Human Phenotype Ontology (HPO) Version 2 Genpanel

# Symbol Genename Chr Genanfang Genende 1 A2M alpha-2-macroglobulin 12 9.220.304 9.268.558 2 AAAS achalasia, adrenocortical insufficiency, alacrimia 12 53.701.240 53.715.412 3 AAGAB alpha- and gamma-adaptin binding protein 15 67.493.013 67.547.536 4 AARS alanyl-tRNA synthetase 16 70.286.198 70.323.452 5 AARS2 alanyl-tRNA synthetase 2, mitochondrial 6 44.266.463 44.281.094 6 AASS aminoadipate-semialdehyde synthase 7 121.713.598 121.784.344 7 ABAT 4-aminobutyrate aminotransferase 16 8.768.444 8.878.432 8 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 9 107.543.283 107.690.527 9 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 2 215.796.266 216.003.151 10 ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 16 2.325.879 2.390.747 11 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1 94.458.393 94.586.705 12 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 7 87.133.179 87.342.639 13 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2 169.779.336 169.887.833 14 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 7 87.031.361 87.105.019 15 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 2 220.074.488 220.083.712 (Langereis blood group) 16 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 X 74.273.007 74.376.175 17 ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 16 48.200.782 48.281.479 18 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 10 101.542.457 101.611.662 19 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 16 16.243.422 16.318.083 20 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 11 17.414.432 17.498.449 21 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 12 21.950.323 22.094.797 22 ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 X 152.990.323 153.010.216 23 ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 1 94.883.933 94.984.219 24 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 14 74.751.980 74.769.767 25 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 2 44.039.611 44.066.039 26 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 2 44.066.103 44.105.947 27 ABHD12 abhydrolase domain containing 12 20 25.275.379 25.371.618 28 ABHD5 abhydrolase domain containing 5 3 43.732.375 43.764.217 29 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 9 133.588.266 133.763.062 30 ACACA acetyl-CoA carboxylase alpha 17 35.441.927 35.766.902 31 ACAD8 acyl-CoA dehydrogenase family, member 8 11 134.123.428 134.135.749 32 ACAD9 acyl-CoA dehydrogenase family, member 9 3 128.598.333 128.631.957 33 ACADL acyl-CoA dehydrogenase, long chain 2 211.052.632 211.090.215 34 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1 76.190.043 76.229.355 35 ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 12 121.163.544 121.177.811 36 ACADSB acyl-CoA dehydrogenase, short/branched chain 10 124.768.429 124.817.806 37 ACADVL acyl-CoA dehydrogenase, very long chain 17 7.120.444 7.128.586 38 ACAN aggrecan 15 89.346.674 89.418.585 39 ACAT1 acetyl-CoA acetyltransferase 1 11 107.992.258 108.018.895 40 ACAT2 acetyl-CoA acetyltransferase 2 6 160.182.989 160.200.087 41 ACBD6 acyl-CoA binding domain containing 6 1 180.257.352 180.472.022 42 ACE angiotensin I converting enzyme 17 61.554.422 61.575.741 43 ACO2 aconitase 2, mitochondrial 22 41.865.099 41.924.993 44 ACOX1 acyl-CoA oxidase 1, palmitoyl 17 73.937.588 73.975.515 45 ACP2 acid phosphatase 2, lysosomal 11 47.260.853 47.270.457 46 ACP5 acid phosphatase 5, tartrate resistant 19 11.685.475 11.689.801 47 ACSF3 acyl-CoA synthetase family member 3 16 89.160.217 89.222.171 48 ACSL4 acyl-CoA synthetase long-chain family member 4 X 108.884.564 108.976.621 49 ACTA1 actin, alpha 1, skeletal muscle 1 229.566.992 229.569.858 50 ACTA2 actin, alpha 2, smooth muscle, aorta 10 90.694.831 90.751.147 51 ACTB actin, beta 7 5.566.779 5.570.232 52 ACTC1 actin, alpha, cardiac muscle 1 15 35.080.297 35.087.927 53 ACTG1 actin gamma 1 17 79.476.997 79.479.892 54 ACTN1 actinin, alpha 1 14 69.340.840 69.446.083 55 ACTN2 actinin, alpha 2 1 236.849.754 236.927.931 56 ACTN4 actinin, alpha 4 19 39.138.256 39.221.336 57 ACVR1 activin A receptor, type I 2 158.592.958 158.732.374 58 ACVR2B activin A receptor, type IIB 3 38.495.790 38.534.633 59 ACVRL1 activin A receptor type II-like 1 12 52.300.657 52.317.145 60 ACY1 aminoacylase 1 3 52.017.300 52.023.218 61 ADA adenosine deaminase 20 43.248.160 43.280.376 62 ADAM10 ADAM metallopeptidase domain 10 15 58.887.403 59.042.177 63 ADAM17 ADAM metallopeptidase domain 17 2 9.629.392 9.695.917 64 ADAM9 ADAM metallopeptidase domain 9 8 38.854.505 38.962.780 65 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 19 8.645.124 8.675.588 66 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 9 136.279.459 136.324.525 67 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 15 100.511.643 100.882.183 68 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 16 77.316.025 77.469.011 69 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 5 178.537.852 178.772.431 70 ADAMTSL2 ADAMTS-like 2 9 136.397.286 136.440.641 71 ADAMTSL4 ADAMTS-like 4 1 150.521.846 150.533.413 72 ADAR adenosine deaminase, RNA-specific 1 154.554.533 154.600.456 73 ADAT3 adenosine deaminase, tRNA-specific 3 19 1.905.371 1.913.446 74 ADCK3 aarF domain containing kinase 3 1 227.084.589 227.175.246 75 ADCK4 aarF domain containing kinase 4 19 41.197.434 41.222.790 76 ADCY5 adenylate cyclase 5 3 123.001.143 123.167.924 77 ADIPOQ adiponectin, C1Q and collagen domain containing 3 186.560.463 186.576.252 78 ADK adenosine kinase 10 75.910.943 76.469.061 79 ADRA2B adrenoceptor alpha 2B 2 96.778.623 96.782.281 80 ADSL adenylosuccinate lyase 22 40.742.504 40.762.577 81 AFF1 AF4/FMR2 family, member 1 4 87.855.758 88.062.206 82 AFF2 AF4/FMR2 family, member 2 X 147.582.139 148.082.193 83 AFG3L2 AFG3-like AAA ATPase 2 18 12.328.943 12.377.275 84 AFP alpha-fetoprotein 4 74.301.933 74.321.492 85 AGA aspartylglucosaminidase 4 178.351.928 178.363.657 86 AGBL1 ATP/GTP binding protein-like 1 15 86.623.137 87.572.283 87 AGK acylglycerol kinase 7 141.251.078 141.354.209 88 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1 100.315.633 100.389.579 89 AGO1 argonaute RISC catalytic component 1 1 36.335.412 36.395.211 90 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 9 139.567.595 139.581.911 91 AGPS alkylglycerone phosphate synthase 2 178.257.471 178.408.564 92 AGRN agrin 1 955.503 991.499 93 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1 230.838.269 230.850.336 94 AGTR1 angiotensin II receptor, type 1 3 148.415.658 148.460.790 95 AGTR2 angiotensin II receptor, type 2 X 115.301.958 115.306.225 96 AGXT alanine-glyoxylate aminotransferase 2 241.808.162 241.818.536 97 AHCY adenosylhomocysteinase 20 32.868.071 32.899.608 98 AHI1 Abelson helper integration site 1 6 135.604.670 135.818.903 99 AICDA activation-induced cytidine deaminase 12 8.754.762 8.765.463 100 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 X 129.263.337 129.299.861 101 AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional 4 107.236.767 107.270.382 protein 1 102 AIP aryl hydrocarbon receptor interacting protein 11 67.250.505 67.258.579 103 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 17 6.327.057 6.338.576 104 AIRE autoimmune regulator 21 45.705.721 45.718.102 105 AK1 adenylate kinase 1 9 130.628.759 130.640.022 106 AK2 adenylate kinase 2 1 33.473.541 33.502.512 107 AKAP9 A kinase (PRKA) anchor protein 9 7 91.570.181 91.739.987 108 AKR1C2 aldo-keto reductase family 1, member C2 10 5.029.967 5.060.225 109 AKR1D1 aldo-keto reductase family 1, member D1 7 137.761.178 137.803.050 110 AKT1 v-akt murine thymoma viral oncogene homolog 1 14 105.235.686 105.262.080 111 AKT2 v-akt murine thymoma viral oncogene homolog 2 19 40.736.224 40.791.443 112 AKT3 v-akt murine thymoma viral oncogene homolog 3 1 243.651.535 244.014.381 113 ALAD aminolevulinate dehydratase 9 116.148.592 116.163.618 114 ALAS2 5'-aminolevulinate synthase 2 X 55.035.488 55.057.497 115 ALDH18A1 aldehyde dehydrogenase 18 family, member A1 10 97.365.686 97.416.759 116 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 9 75.515.578 75.653.633 117 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 15 101.419.897 101.456.831 118 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 12 112.204.691 112.247.789 119 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 17 19.552.064 19.580.908 120 ALDH4A1 aldehyde dehydrogenase 4 family, member A1 1 19.197.924 19.229.293 121 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 6 24.495.197 24.537.435 122 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 14 74.524.365 74.551.196 123 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 5 125.877.533 125.931.104 124 ALDOA aldolase A, fructose-bisphosphate 16 30.064.411 30.081.741 125 ALDOB aldolase B, fructose-bisphosphate 9 104.182.842 104.198.062 126 ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 16 5.121.810 5.137.380 127 ALG10 ALG10, alpha-1,2-glucosyltransferase 12 34.175.216 34.181.237 128 ALG11 ALG11, alpha-1,2-mannosyltransferase 13 52.586.523 52.603.784 129 ALG12 ALG12, alpha-1,6-mannosyltransferase 22 50.296.852 50.312.106 130 ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit X 110.924.346 111.003.877 131 ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 9 101.978.707 101.984.246 132 ALG3 ALG3, alpha-1,3- mannosyltransferase 3 183.960.117 183.967.313 133 ALG6 ALG6, alpha-1,3-glucosyltransferase 1 63.833.261 63.904.233 134 ALG8 ALG8, alpha-1,3-glucosyltransferase 11 77.811.988 77.850.699 135 ALG9 ALG9, alpha-1,2-mannosyltransferase 11 111.652.919 111.742.305 136 ALK anaplastic lymphoma receptor tyrosine kinase 2 29.415.640 30.144.477 137 ALMS1 Alstrom syndrome 1 2 73.612.886 73.837.047 138 ALOX12B arachidonate 12-lipoxygenase, 12R type 17 7.975.954 7.991.021 139 ALOXE3 arachidonate lipoxygenase 3 17 7.999.218 8.022.365 140 ALPL alkaline phosphatase, liver/bone/kidney 1 21.835.475 21.904.905 141 ALS2 amyotrophic lateral sclerosis 2 (juvenile) 2 202.564.986 202.645.895 142 ALX1 ALX homeobox 1 12 85.673.713 85.695.562 143 ALX3 ALX homeobox 3 1 110.602.997 110.613.322 144 ALX4 ALX homeobox 4 11 44.282.278 44.331.735 145 AMACR alpha-methylacyl-CoA racemase 5 33.987.091 34.008.220 146 AMELX amelogenin, X-linked X 11.311.533 11.318.881 147 AMELY amelogenin, Y-linked Y 6.733.959 6.742.068 148 AMER1 APC membrane recruitment protein 1 X 63.404.997 63.425.624 149 AMH anti-Mullerian hormone 19 2.249.113 2.252.072 150 AMHR2 anti-Mullerian hormone receptor, type II 12 53.817.594 53.825.439 151 AMN amnion associated transmembrane protein 14 103.388.993 103.397.179 152 AMPD1 adenosine monophosphate deaminase 1 1 115.215.719 115.238.239 153 AMT aminomethyltransferase 3 49.454.211 49.460.111 154 ANG angiogenin, ribonuclease, RNase A family, 5 14 21.152.336 21.162.345 155 ANGPTL3 angiopoietin-like 3 1 63.063.158 63.071.976 156 ANK1 ankyrin 1, erythrocytic 8 41.510.744 41.754.280 157 ANK2 ankyrin 2, neuronal 4 113.739.239 114.304.896 158 ANK3 ankyrin 3, node of Ranvier (ankyrin G) 10 61.786.056 62.493.284 159 ANKH ANKH inorganic pyrophosphate transport regulator 5 14.704.909 14.871.887 160 ANKRD11 ankyrin repeat domain 11 16 89.334.029 89.556.969 161 ANKRD26 ankyrin repeat domain 26 10 27.284.054 27.389.427 162 ANKRD55 ankyrin repeat domain 55 5 55.395.507 55.529.186 163 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 9 101.494.291 101.558.794 164 ANO10 anoctamin 10 3 43.407.818 43.663.560 165 ANO3 anoctamin 3 11 26.210.458 26.684.836 166 ANO5 anoctamin 5 11 22.214.199 22.304.913 167 ANO6 anoctamin 6 12 45.609.770 45.834.187 168 ANTXR1 anthrax toxin receptor 1 2 69.240.276 69.476.459 169 ANTXR2 anthrax toxin receptor 2 4 80.822.771 80.994.626 170 AP1S1 adaptor-related protein complex 1, sigma 1 subunit 7 100.797.685 100.804.557 171 AP1S2 adaptor-related protein complex 1, sigma 2 subunit X 15.843.929 15.873.137 172 AP2S1 adaptor-related protein complex 2, sigma 1 subunit 19 47.341.423 47.354.203 173 AP3B1 adaptor-related protein complex 3, beta 1 subunit 5 77.298.150 77.590.579 174 AP4B1 adaptor-related protein complex 4, beta 1 subunit 1 114.437.370 114.447.741 175 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit 15 51.200.780 51.298.097 176 AP4M1 adaptor-related protein complex 4, mu 1 subunit 7 99.699.130 99.704.803 177 AP4S1 adaptor-related protein complex 4, sigma 1 subunit 14 31.494.312 31.565.656 178 AP5Z1 adaptor-related protein complex 5, zeta 1 subunit 7 4.815.262 4.834.026 179 APC adenomatous polyposis coli 5 112.043.202 112.181.936 180 APCDD1 adenomatosis polyposis coli down-regulated 1 18 10.454.625 10.488.698 181 APOA1 apolipoprotein A-I 11 116.706.467 116.708.338 182 APOA4 apolipoprotein A-IV 11 116.691.418 116.694.011 183 APOA5 apolipoprotein A-V 11 116.660.086 116.663.136 184 APOB apolipoprotein B 2 21.224.301 21.266.945 185 APOC2 apolipoprotein C-II 19 45.449.239 45.452.822 186 APOC3 apolipoprotein C-III 11 116.700.624 116.703.787 187 APOE apolipoprotein E 19 45.409.039 45.412.650 188 APOL1 apolipoprotein L, 1 22 36.649.117 36.663.577 189 APP amyloid beta (A4) precursor protein 21 27.252.861 27.543.446 190 APRT adenine phosphoribosyltransferase 16 88.875.877 88.878.342 191 APTX aprataxin 9 32.972.604 33.001.639 192 AQP2 aquaporin 2 (collecting duct) 12 50.344.524 50.352.664 193 AQP5 aquaporin 5 12 50.355.279 50.359.465 194 AR androgen receptor X 66.763.874 66.950.461 195 ARAF A-Raf proto-oncogene, serine/threonine kinase X 47.420.499 47.431.320 196 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 20 47.538.250 47.653.230 (brefeldin A-inhibited) 197 ARG1 arginase 1 6 131.894.344 131.905.472 198 ARHGAP26 Rho GTPase activating protein 26 5 142.149.881 142.608.572 199 ARHGAP31 Rho GTPase activating protein 31 3 119.013.220 119.138.323 200 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha 17 79.825.595 79.829.282 201 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 8 1.772.149 1.906.807 202 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 11 120.207.264 120.360.645 203 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 X 135.747.708 135.863.503 204 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 X 62.854.847 63.005.426 205 ARID1A AT rich interactive domain 1A (SWI-like) 1 27.022.522 27.108.601 206 ARID1B AT rich interactive domain 1B (SWI1-like) 6 157.098.980 157.531.913 207 ARID5A AT rich interactive domain 5A (MRF1-like) 2 97.202.464 97.218.375 208 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 15 72.766.667 72.878.904 209 ARL13B ADP-ribosylation factor-like 13B 3 93.698.983 93.774.522 210 ARL2BP ADP-ribosylation factor-like 2 binding protein 16 57.279.037 57.287.547 211 ARL6 ADP-ribosylation factor-like 6 3 97.483.365 97.520.086 212 ARMC4 armadillo repeat containing 4 10 28.101.095 28.287.977 213 ARSA arylsulfatase A 22 51.061.182 51.066.601 214 ARSB arylsulfatase B 5 78.073.032 78.282.357 215 ARSE arylsulfatase E (chondrodysplasia punctata 1) X 2.852.673 2.886.345 216 ARVCF armadillo repeat gene deleted in velocardiofacial syndrome 22 19.954.126 20.004.325 217 ARX aristaless related homeobox X 25.021.811 25.034.065 218 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 8 17.913.925 17.942.507 219 ASCC1 activating signal cointegrator 1 complex subunit 1 10 73.855.790 73.976.892 220 ASCC3 activating signal cointegrator 1 complex subunit 3 6 100.956.325 101.329.243 221 ASCL1 achaete-scute family bHLH transcription factor 1 12 103.351.452 103.354.294 222 ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) 1 155.305.052 155.532.324 223 ASL argininosuccinate lyase 7 65.540.776 65.558.330 224 ASNS asparagine synthetase (glutamine-hydrolyzing) 7 97.481.429 97.501.854 225 ASPA aspartoacylase 17 3.377.404 3.402.700 226 ASPM asp (abnormal spindle) homolog, microcephaly associated 1 197.053.257 197.115.824 (Drosophila) 227 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 17 79.935.426 79.975.282 228 ASS1 argininosuccinate synthase 1 9 133.320.094 133.376.661 229 ASXL1 additional sex combs like transcriptional regulator 1 20 30.946.147 31.027.122 230 ASXL3 additional sex combs like transcriptional regulator 3 18 31.158.541 31.331.159 231 ATCAY ataxia, cerebellar, Cayman type 19 3.880.618 3.928.080 232 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide 2 216.176.679 216.214.496 formyltransferase/IMP cyclohydrolase 233 ATL1 atlastin GTPase 1 14 50.999.800 51.099.786 234 ATL3 atlastin GTPase 3 11 63.391.554 63.439.533 235 ATM ATM serine/threonine kinase 11 108.093.559 108.239.829 236 ATN1 atrophin 1 12 7.033.626 7.051.484 237 ATOH7 atonal homolog 7 (Drosophila) 10 69.990.352 69.991.870 238 ATP13A2 ATPase type 13A2 1 17.312.453 17.338.467 239 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 1 160.085.520 160.113.381 240 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 19 42.470.628 42.498.428 241 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 16 28.889.192 28.915.830 242 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 12 110.719.032 110.788.898 243 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 X 152.783.905 152.848.387 244 ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 3 130.569.327 130.735.556 245 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha 18 43.664.110 43.684.199 subunit 1, cardiac muscle 246 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon 20 57.603.733 57.607.422 subunit 247 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 X 40.440.141 40.465.889 248 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 12 124.196.865 124.246.302 249 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 7 138.391.039 138.484.305 250 ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 2 71.162.998 71.192.561 251 ATP7A ATPase, Cu++ transporting, alpha polypeptide X 77.166.194 77.305.892 252 ATP7B ATPase, Cu++ transporting, beta polypeptide 13 52.506.805 52.586.181 253 ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 13 25.946.209 26.599.989 2 254 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 18 55.313.658 55.470.327 1 255 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 17 17.921.334 17.942.483 256 ATR ATR serine/threonine kinase 3 142.168.077 142.297.668 257 ATRIP ATR interacting protein 3 48.488.114 48.509.044 258 ATRX alpha thalassemia/mental retardation syndrome X-linked X 76.760.356 77.041.755 259 ATXN1 ataxin 1 6 16.299.343 16.761.721 260 ATXN10 ataxin 10 22 46.067.678 46.241.187 261 ATXN2 ataxin 2 12 111.890.018 112.037.480 262 ATXN3 ataxin 3 14 92.524.896 92.572.965 263 ATXN7 ataxin 7 3 63.849.785 63.989.240 264 ATXN8OS ATXN8 opposite strand (non-protein coding) 13 70.681.345 70.713.885 265 AUH AU RNA binding protein/enoyl-CoA hydratase 9 93.976.097 94.124.215 266 AURKC aurora kinase C 19 57.741.750 57.746.916 267 AVP arginine vasopressin 20 3.063.202 3.065.370 268 AVPR2 arginine vasopressin receptor 2 X 153.167.985 153.172.620 269 AXIN1 axin 1 16 337.440 405.244 270 AXIN2 axin 2 17 63.524.681 63.557.740 271 B2M beta-2-microglobulin 15 45.003.685 45.010.357 272 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 1 235.610.505 235.667.781 273 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1 1.167.629 1.170.421 274 B3GALTL beta 1,3-galactosyltransferase-like 13 31.774.112 31.906.413 275 B3GAT3 beta-1,3-glucuronyltransferase 3 11 62.382.768 62.389.647 276 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 12 58.019.678 58.027.022 277 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 9 33.110.636 33.167.356 1 278 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 5 177.027.119 177.037.348 279 B9D1 B9 protein domain 1 17 19.240.563 19.281.495 280 B9D2 B9 protein domain 2 19 41.860.322 41.870.078 281 BAAT bile acid CoA:amino acid N-acyltransferase 9 104.122.699 104.147.287 282 BAG3 BCL2-associated athanogene 3 10 121.410.859 121.437.331 283 BANF1 barrier to autointegration factor 1 11 65.769.550 65.771.617 284 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 3 52.435.020 52.444.121

285 BAX BCL2-associated X protein 19 49.458.117 49.465.055 286 BBS1 Bardet-Biedl syndrome 1 11 66.278.077 66.301.084 287 BBS10 Bardet-Biedl syndrome 10 12 76.738.266 76.742.222 288 BBS12 Bardet-Biedl syndrome 12 4 123.653.857 123.666.098 289 BBS2 Bardet-Biedl syndrome 2 16 56.504.301 56.554.008 290 BBS4 Bardet-Biedl syndrome 4 15 72.978.520 73.030.817 291 BBS5 Bardet-Biedl syndrome 5 2 170.335.967 170.363.165 292 BBS7 Bardet-Biedl syndrome 7 4 122.745.484 122.791.652 293 BBS9 Bardet-Biedl syndrome 9 7 33.169.144 33.645.680 294 BCAN brevican 1 156.611.740 156.629.324 295 BCAP31 B-cell receptor-associated protein 31 X 152.965.947 152.990.201 296 BCHE butyrylcholinesterase 3 165.490.692 165.555.260 297 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 19 41.903.694 41.930.910 298 BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 6 80.816.344 81.055.987 299 BCKDK branched chain ketoacid dehydrogenase kinase 16 31.119.615 31.124.112 300 BCL10 B-cell CLL/lymphoma 10 1 85.731.459 85.742.604 301 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 2 60.678.302 60.780.633 302 BCL2 B-cell CLL/lymphoma 2 18 60.790.579 60.987.011 303 BCL3 B-cell CLL/lymphoma 3 19 45.246.070 45.263.301 304 BCO1 beta-carotene oxygenase 1 16 81.272.176 81.324.747 305 BCOR BCL6 corepressor X 39.910.499 40.036.643 306 BCR breakpoint cluster region 22 23.522.402 23.660.224 307 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 2 219.524.379 219.528.166 308 BDNF brain-derived neurotrophic factor 11 27.676.440 27.743.605 309 BDP1 B double prime 1, subunit of RNA polymerase III transcription 5 70.751.442 70.863.649 initiation factor IIIB 310 BEAN1 brain expressed, associated with NEDD4, 1 16 66.461.200 66.527.432 311 BEST1 bestrophin 1 11 61.717.356 61.731.935 312 BFSP1 beaded filament structural protein 1, filensin 20 17.474.550 17.549.865 313 BFSP2 beaded filament structural protein 2, phakinin 3 133.118.790 133.194.056 314 BHLHA9 basic helix-loop-helix family, member a9 17 1.173.858 1.174.565 315 BICD2 bicaudal D homolog 2 (Drosophila) 9 95.473.645 95.527.083 316 BIN1 bridging integrator 1 2 127.805.599 127.864.903 317 BIRC3 baculoviral IAP repeat containing 3 11 102.188.181 102.210.134 318 BLK BLK proto-oncogene, Src family tyrosine kinase 8 11.351.521 11.422.108 319 BLM Bloom syndrome, RecQ helicase-like 15 91.260.579 91.358.686 320 BLNK B-cell linker 10 97.951.455 98.031.333 321 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 19 45.682.003 45.685.058 322 BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 15 45.879.417 45.901.909 323 BLVRA biliverdin reductase A 7 43.798.272 43.846.941 324 BMP1 bone morphogenetic protein 1 8 22.022.653 22.069.839 325 BMP15 bone morphogenetic protein 15 X 50.653.735 50.659.641 326 BMP2 bone morphogenetic protein 2 20 6.748.745 6.760.910 327 BMP4 bone morphogenetic protein 4 14 54.416.454 54.423.554 328 BMPER BMP binding endothelial regulator 7 33.944.523 34.195.484 329 BMPR1A bone morphogenetic protein receptor, type IA 10 88.516.396 88.684.945 330 BMPR1B bone morphogenetic protein receptor, type IB 4 95.679.128 96.079.601 331 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine 2 203.241.033 203.432.474 kinase) 332 BOLA3 bolA family member 3 2 74.362.528 74.375.039 333 BPGM 2,3-bisphosphoglycerate mutase 7 134.331.531 134.364.568 334 BRAF B-Raf proto-oncogene, serine/threonine kinase 7 140.415.749 140.624.564 335 BRAT1 BRCA1-associated ATM activator 1 7 2.577.444 2.595.392 336 BRCA1 breast cancer 1, early onset 17 41.196.312 41.277.500 337 BRCA2 breast cancer 2, early onset 13 32.889.617 32.973.809 338 BRIP1 BRCA1 interacting protein C-terminal helicase 1 17 59.756.547 59.940.920 339 BRWD3 bromodomain and WD repeat domain containing 3 X 79.924.987 80.065.233 340 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) 11 62.457.734 62.477.091 341 BSND barttin CLCNK-type chloride channel accessory beta subunit 1 55.464.617 55.474.465 342 BTD biotinidase 3 15.642.864 15.689.147 343 BTK Bruton agammaglobulinemia tyrosine kinase X 100.604.435 100.641.212 344 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase 10 103.113.790 103.317.078 345 BUB1 BUB1 mitotic checkpoint serine/threonine kinase 2 111.395.275 111.435.684 346 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 15 40.453.210 40.513.337 347 BUB3 BUB3 mitotic checkpoint protein 10 124.913.760 124.924.886 348 C10orf11 chromosome 10 open reading frame 11 10 77.191.217 78.317.133 349 C10orf2 chromosome 10 open reading frame 2 10 102.747.293 102.754.159 350 C12orf57 chromosome 12 open reading frame 57 12 7.052.146 7.055.165 351 C12orf65 chromosome 12 open reading frame 65 12 123.717.844 123.742.651 352 C15orf41 chromosome 15 open reading frame 41 15 36.871.812 37.102.449 353 C19orf12 chromosome 19 open reading frame 12 19 30.189.793 30.206.696 354 C1GALT1C1 C1GALT1-specific chaperone 1 X 119.759.529 119.764.005 355 C1QA complement component 1, q subcomponent, A chain 1 22.963.118 22.966.175 356 C1QB complement component 1, q subcomponent, B chain 1 22.979.682 22.988.130 357 C1QC complement component 1, q subcomponent, C chain 1 22.969.969 22.974.603 358 C1QTNF5 C1q and tumor necrosis factor related protein 5 11 119.209.644 119.217.383 359 C1R complement component 1, r subcomponent 12 7.187.513 7.189.412 360 C1R complement component 1, r subcomponent 12 7.241.205 7.245.043 361 C1S complement component 1, s subcomponent 12 7.167.819 7.178.336 362 C2 complement component 2 6 31.865.562 31.913.449 363 C21orf59 chromosome 21 open reading frame 59 21 33.973.977 33.985.174 364 C2orf71 chromosome 2 open reading frame 71 2 29.284.556 29.297.127 365 C3 complement component 3 19 6.677.846 6.720.662 366 C4A complement component 4A (Rodgers blood group) 6 31.949.834 31.970.457 367 C4B complement component 4B (Chido blood group) 6 31.982.572 32.003.195 368 C4orf26 chromosome 4 open reading frame 26 4 76.481.258 76.491.103 369 C5 complement component 5 9 123.714.613 123.812.554 370 C5orf42 chromosome 5 open reading frame 42 5 37.079.423 37.249.530 371 C6 complement component 6 5 41.142.248 41.261.588 372 C7 complement component 7 5 40.909.599 40.983.041 373 C8A complement component 8, alpha polypeptide 1 57.320.443 57.383.894 374 C8B complement component 8, beta polypeptide 1 57.394.883 57.433.213 375 C8orf37 chromosome 8 open reading frame 37 8 96.257.141 96.281.707 376 C9 complement component 9 5 39.284.377 39.364.655 377 C9orf72 chromosome 9 open reading frame 72 9 27.546.543 27.573.864 378 CA12 carbonic anhydrase XII 15 63.615.730 63.674.326 379 CA2 carbonic anhydrase II 8 86.376.131 86.393.721 380 CA4 carbonic anhydrase IV 17 58.227.302 58.236.907 381 CA8 carbonic anhydrase VIII 8 61.101.423 61.193.954 382 CABP2 calcium binding protein 2 11 67.286.418 67.291.085 383 CABP4 calcium binding protein 4 11 67.219.886 67.229.245 384 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 19 13.317.256 13.617.274 385 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12 2.079.952 2.807.115 386 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 3 53.529.076 53.847.179 387 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit X 49.061.523 49.089.833 388 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17 48.638.429 48.704.835 389 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit 16 1.203.241 1.271.772 390 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 1 201.008.635 201.081.694 391 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 12 1.901.123 2.027.870 392 CACNB2 calcium channel, voltage-dependent, beta 2 subunit 10 18.429.373 18.830.688 393 CACNB4 calcium channel, voltage-dependent, beta 4 subunit 2 152.689.285 152.955.593 394 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 22 36.956.916 37.098.690 395 CALM1 calmodulin 1 (phosphorylase kinase, delta) 14 90.863.327 90.874.619 396 CALR calreticulin 19 13.049.414 13.055.304 397 CALR3 calreticulin 3 19 16.589.767 16.607.015 398 CAMK2G calcium/calmodulin-dependent protein kinase II gamma 10 75.572.259 75.634.349 399 CAMTA1 calmodulin binding transcription activator 1 1 6.845.384 7.829.766 400 CANT1 calcium activated nucleotidase 1 17 76.987.798 77.005.899 401 CAPN10 calpain 10 2 241.526.133 241.538.526 402 CAPN3 calpain 3, (p94) 15 42.646.545 42.704.515 403 CAPN5 calpain 5 11 76.777.992 76.837.201 404 CARD11 caspase recruitment domain family, member 11 7 2.945.709 3.083.579 405 CARD14 caspase recruitment domain family, member 14 17 78.143.791 78.183.130 406 CARD9 caspase recruitment domain family, member 9 9 139.258.408 139.268.133 407 CASC5 cancer susceptibility candidate 5 15 40.886.447 40.954.881 408 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK X 41.374.187 41.782.415 family) 409 CASP10 caspase 10, apoptosis-related cysteine peptidase 2 202.047.621 202.094.129 410 CASP2 caspase 2, apoptosis-related cysteine peptidase 7 142.985.308 143.004.789 411 CASP8 caspase 8, apoptosis-related cysteine peptidase 2 202.098.166 202.152.434 412 CASQ2 calsequestrin 2 (cardiac muscle) 1 116.242.624 116.311.426 413 CASR calcium-sensing receptor 3 121.902.530 122.005.350 414 CAT catalase 11 34.460.472 34.493.607 415 CATSPER1 cation channel, sperm associated 1 11 65.784.223 65.793.988 416 CAV1 caveolin 1, caveolae protein, 22kDa 7 116.164.839 116.201.239 417 CAV3 caveolin 3 3 8.775.486 8.788.451 418 CBFB core-binding factor, beta subunit 16 67.063.050 67.134.961 419 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 11 119.076.986 119.178.859 420 CBS cystathionine-beta-synthase 21 44.473.301 44.496.472 421 CBX2 chromobox homolog 2 17 77.751.977 77.761.449 422 CC2D1A coiled-coil and C2 domain containing 1A 19 14.016.956 14.041.693 423 CC2D2A coiled-coil and C2 domain containing 2A 4 15.471.489 15.603.594 424 CCBE1 collagen and calcium binding EGF domains 1 18 57.098.171 57.364.860 425 CCDC103 coiled-coil domain containing 103 17 42.977.080 42.983.541 426 CCDC114 coiled-coil domain containing 114 19 48.799.709 48.825.191 427 CCDC39 coiled-coil domain containing 39 3 180.331.360 180.397.300 428 CCDC40 coiled-coil domain containing 40 17 78.010.431 78.074.412 429 CCDC50 coiled-coil domain containing 50 3 191.046.874 191.116.459 430 CCDC6 coiled-coil domain containing 6 10 61.548.505 61.666.414 431 CCDC65 coiled-coil domain containing 65 12 49.297.893 49.325.696 432 CCDC78 coiled-coil domain containing 78 16 772.582 776.880 433 CCDC8 coiled-coil domain containing 8 19 46.913.586 46.916.919 434 CCDC88C coiled-coil domain containing 88C 14 91.737.667 91.884.188 435 CCL11 chemokine (C-C motif) ligand 11 17 32.612.687 32.615.199 436 CCM2 cerebral cavernous malformation 2 7 45.039.345 45.116.069 437 CCNA2 cyclin A2 4 122.737.599 122.745.153 438 CCND1 cyclin D1 11 69.455.873 69.469.242 439 CCR6 chemokine (C-C motif) receptor 6 6 167.525.295 167.554.168 440 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) 5 10.250.041 10.266.501 441 CD151 CD151 molecule (Raph blood group) 11 832.952 838.840 442 CD19 CD19 molecule 16 28.943.082 28.950.668 443 CD247 CD247 molecule 1 167.399.877 167.487.847 444 CD27 CD27 molecule 12 6.554.051 6.560.884 445 CD2AP CD2-associated protein 6 47.445.482 47.594.999 446 CD320 CD320 molecule 19 8.367.011 8.373.439 447 CD36 CD36 molecule (thrombospondin receptor) 7 80.231.504 80.308.593 448 CD3D CD3d molecule, delta (CD3-TCR complex) 11 118.209.789 118.213.459 449 CD3E CD3e molecule, epsilon (CD3-TCR complex) 11 118.175.295 118.186.890 450 CD3G CD3g molecule, gamma (CD3-TCR complex) 11 118.215.032 118.224.497 451 CD4 CD4 molecule 12 6.898.638 6.929.976 452 CD40 CD40 molecule, TNF receptor superfamily member 5 20 44.746.899 44.758.384 453 CD40LG CD40 ligand X 135.730.281 135.742.549 454 CD59 CD59 molecule, complement regulatory protein 11 33.724.556 33.758.025 455 CD79A CD79a molecule, immunoglobulin-associated alpha 19 42.381.190 42.385.439 456 CD79B CD79b molecule, immunoglobulin-associated beta 17 62.006.098 62.009.710 457 CD81 CD81 molecule 11 2.397.391 2.418.649 458 CD82 CD82 molecule 11 44.587.141 44.641.339 459 CD8A CD8a molecule 2 87.011.728 87.035.519 460 CD96 CD96 molecule 3 111.260.926 111.384.843 461 CDAN1 codanin 1 15 43.015.760 43.029.417 462 CDC6 cell division cycle 6 17 38.444.146 38.459.413 463 CDC73 cell division cycle 73 1 193.091.088 193.223.945 464 CDH1 cadherin 1, type 1, E-cadherin (epithelial) 16 68.771.128 68.869.445 465 CDH15 cadherin 15, type 1, M-cadherin (myotubule) 16 89.238.163 89.261.900 466 CDH23 cadherin-related 23 10 73.156.691 73.575.704 467 CDH3 cadherin 3, type 1, P-cadherin (placental) 16 68.678.151 68.732.959 468 CDHR1 cadherin-related family member 1 10 85.954.391 85.979.377 469 CDK11B cyclin-dependent kinase 11B 1 1.571.100 1.590.473 470 CDK16 cyclin-dependent kinase 16 X 47.077.445 47.089.396 471 CDK19 cyclin-dependent kinase 19 6 110.931.181 111.136.590 472 CDK4 cyclin-dependent kinase 4 12 58.141.510 58.146.304 473 CDK5RAP2 CDK5 regulatory subunit associated protein 2 9 123.151.147 123.342.448 474 CDKL5 cyclin-dependent kinase-like 5 X 18.443.725 18.671.749 475 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) 12 12.870.302 12.875.305 476 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 11 2.904.448 2.907.063 477 CDKN2A cyclin-dependent kinase inhibitor 2A 9 21.967.751 21.994.490 478 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 9 22.002.902 22.009.312 479 CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) 19 10.677.138 10.679.655 480 CDON cell adhesion associated, oncogene regulated 11 125.826.713 125.933.187 481 CDR1 cerebellar degeneration-related protein 1, 34kDa X 139.865.425 139.866.723 482 CDSN corneodesmosin 6 31.082.865 31.088.252 483 CDT1 chromatin licensing and DNA replication factor 1 16 88.870.186 88.875.666 484 CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16 19 45.202.421 45.213.986 485 CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 19 42.212.530 42.234.437 486 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha 19 33.790.840 33.793.430 487 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon 14 23.586.515 23.588.820 488 CECR1 cat eye syndrome chromosome region, candidate 1 22 17.659.681 17.702.744 489 CEL carboxyl ester lipase 9 135.936.741 135.947.250 490 CENPJ centromere protein J 13 25.456.412 25.497.027 491 CEP135 centrosomal protein 135kDa 4 56.814.974 56.899.529 492 CEP152 centrosomal protein 152kDa 15 49.030.135 49.104.092 493 CEP164 centrosomal protein 164kDa 11 117.184.792 117.283.982 494 CEP290 centrosomal protein 290kDa 12 88.442.790 88.535.993 495 CEP41 centrosomal protein 41kDa 7 130.033.612 130.081.051 496 CEP57 centrosomal protein 57kDa 11 95.523.625 95.565.857 497 CEP63 centrosomal protein 63kDa 3 134.204.575 134.293.855 498 CERKL ceramide kinase-like 2 182.401.399 182.521.834 499 CERS3 ceramide synthase 3 15 100.940.600 101.084.925 500 CES1 carboxylesterase 1 16 55.836.763 55.867.098 501 CETP cholesteryl ester transfer protein, plasma 16 56.995.835 57.017.757 502 CFAP53 cilia and flagella associated protein 53 18 47.753.563 47.792.865 503 CFC1 cripto, FRL-1, cryptic family 1 2 131.349.738 131.357.148 504 CFD complement factor D (adipsin) 19 859.665 863.624 505 CFH complement factor H 1 196.621.008 196.716.634 506 CFHR5 complement factor H-related 5 1 196.946.667 196.978.804 507 CFI complement factor I 4 110.661.848 110.723.381 508 CFL2 cofilin 2 (muscle) 14 35.179.588 35.184.029 509 CFP complement factor properdin X 47.483.612 47.489.704 510 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding 7 117.120.017 117.308.719 cassette sub-family C, member 7) 511 CHAT choline O-acetyltransferase 10 50.817.141 50.873.150 512 CHD2 chromodomain helicase DNA binding protein 2 15 93.442.286 93.571.237 513 CHD7 chromodomain helicase DNA binding protein 7 8 61.591.321 61.780.587 514 CHEK2 checkpoint kinase 2 22 29.083.731 29.137.822 515 CHKB choline kinase beta 22 51.017.387 51.021.428 516 CHM choroideremia (Rab escort protein 1) X 85.116.185 85.302.566 517 CHMP1A charged multivesicular body protein 1A 16 89.710.839 89.724.193 518 CHMP2B charged multivesicular body protein 2B 3 87.276.413 87.304.698 519 CHMP4B charged multivesicular body protein 4B 20 32.399.110 32.442.173 520 CHN1 chimerin 1 2 175.664.042 175.870.671 521 CHRDL1 chordin-like 1 X 109.917.084 110.039.286 522 CHRM3 cholinergic receptor, muscarinic 3 1 239.549.876 240.078.750 523 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) 2 175.612.320 175.629.200 524 CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) 8 27.317.278 27.336.813 525 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 20 61.974.662 62.009.487 526 CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) 17 7.348.406 7.360.932 527 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) 1 154.540.257 154.552.354 528 CHRND cholinergic receptor, nicotinic, delta (muscle) 2 233.390.870 233.401.375 529 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 17 4.801.064 4.806.369 530 CHRNG cholinergic receptor, nicotinic, gamma (muscle) 2 233.404.424 233.411.038 531 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 15 40.763.160 40.765.357 532 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 10 73.724.120 73.773.322 533 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 16 75.507.022 75.528.926 534 CHSY1 chondroitin sulfate synthase 1 15 101.715.928 101.792.137 535 CHUK conserved helix-loop-helix ubiquitous kinase 10 101.948.123 101.989.367 536 CIB2 calcium and integrin binding family member 2 15 78.396.948 78.423.877 537 CIDEC cell death-inducing DFFA-like effector c 3 9.908.394 9.921.938 538 CIITA class II, major histocompatibility complex, transactivator 16 10.971.055 11.018.840 539 CIRH1A cirrhosis, autosomal recessive 1A (cirhin) 16 69.166.499 69.202.937 540 CISD2 CDGSH iron sulfur domain 2 4 103.749.224 103.813.964 541 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy- 6 139.693.392 139.695.787 terminal domain, 2 542 CLCF1 cardiotrophin-like cytokine factor 1 11 67.131.635 67.141.648 543 CLCN1 chloride channel, voltage-sensitive 1 7 143.013.219 143.049.097 544 CLCN2 chloride channel, voltage-sensitive 2 3 184.063.973 184.079.439 545 CLCN4 chloride channel, voltage-sensitive 4 X 10.124.985 10.205.700 546 CLCN5 chloride channel, voltage-sensitive 5 X 49.687.225 49.863.892 547 CLCN7 chloride channel, voltage-sensitive 7 16 1.494.934 1.525.085 548 CLCNKA chloride channel, voltage-sensitive Ka 1 16.348.486 16.360.548 549 CLCNKB chloride channel, voltage-sensitive Kb 1 16.370.231 16.383.821 550 CLDN1 claudin 1 3 190.023.490 190.040.235 551 CLDN14 claudin 14 21 37.832.919 37.948.867 552 CLDN16 claudin 16 3 190.105.661 190.129.932 553 CLDN19 claudin 19 1 43.198.764 43.205.925 554 CLEC7A C-type lectin domain family 7, member A 12 10.269.376 10.282.868 555 CLIC2 chloride intracellular channel 2 X 154.505.500 154.563.997 556 CLMP CXADR-like membrane protein 11 122.943.020 123.066.007 557 CLN3 ceroid-lipofuscinosis, neuronal 3 16 28.488.600 28.505.897 558 CLN5 ceroid-lipofuscinosis, neuronal 5 13 77.566.059 77.576.652 559 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 15 68.499.330 68.522.081 560 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with 8 1.703.944 1.734.736 mental retardation) 561 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit 19 6.361.463 6.368.915 562 CLRN1 clarin 1 3 150.643.950 150.690.786 563 CNBP CCHC-type zinc finger, nucleic acid binding protein 3 128.886.658 128.902.810 564 CNGA1 cyclic nucleotide gated channel alpha 1 4 47.937.994 48.018.646 565 CNGA3 cyclic nucleotide gated channel alpha 3 2 98.962.618 99.015.064 566 CNGB1 cyclic nucleotide gated channel beta 1 16 57.916.244 58.005.020 567 CNGB3 cyclic nucleotide gated channel beta 3 8 87.586.163 87.755.903 568 CNKSR1 connector enhancer of kinase suppressor of Ras 1 1 26.503.981 26.516.375 569 CNKSR2 connector enhancer of kinase suppressor of Ras 2 X 21.392.532 21.672.813 570 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 10 104.678.075 104.838.344

571 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 2 97.426.639 97.477.628

572 CNTN1 contactin 1 12 41.086.244 41.466.214 573 CNTN2 contactin 2 (axonal) 1 205.012.340 205.047.173 574 CNTNAP2 contactin associated protein-like 2 7 145.813.453 148.118.090 575 COA5 cytochrome c oxidase assembly factor 5 2 99.215.786 99.224.981 576 COASY CoA synthase 17 40.713.485 40.718.299 577 COCH cochlin 14 31.343.741 31.364.285 578 COG1 component of oligomeric golgi complex 1 17 71.189.070 71.204.646 579 COG4 component of oligomeric golgi complex 4 16 70.514.472 70.557.457 580 COG5 component of oligomeric golgi complex 5 7 106.842.189 107.204.959 581 COG6 component of oligomeric golgi complex 6 13 40.229.764 40.365.802 582 COG7 component of oligomeric golgi complex 7 16 23.399.814 23.464.583 583 COG8 component of oligomeric golgi complex 8 16 69.362.524 69.373.526 584 COL10A1 collagen, type X, alpha 1 6 116.440.085 116.447.296 585 COL11A1 collagen, type XI, alpha 1 1 103.342.023 103.574.052 586 COL11A2 collagen, type XI, alpha 2 6 33.130.469 33.160.245 587 COL14A1 collagen, type XIV, alpha 1 8 121.137.347 121.384.273 588 COL17A1 collagen, type XVII, alpha 1 10 105.791.046 105.845.638 589 COL18A1 collagen, type XVIII, alpha 1 21 46.825.058 46.933.634 590 COL1A1 collagen, type I, alpha 1 17 48.261.457 48.279.003 591 COL1A2 collagen, type I, alpha 2 7 94.023.873 94.060.544 592 COL2A1 collagen, type II, alpha 1 12 48.366.748 48.398.285 593 COL3A1 collagen, type III, alpha 1 2 189.839.099 189.877.472 594 COL4A1 collagen, type IV, alpha 1 13 110.801.310 110.959.496 595 COL4A2 collagen, type IV, alpha 2 13 110.959.631 111.165.374 596 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 2 228.029.281 228.179.508 597 COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 5 74.666.928 74.807.806 598 COL4A4 collagen, type IV, alpha 4 2 227.867.427 228.029.275 599 COL4A5 collagen, type IV, alpha 5 X 107.683.019 107.940.775 600 COL4A6 collagen, type IV, alpha 6 X 107.398.837 107.682.704 601 COL5A1 collagen, type V, alpha 1 9 137.533.651 137.736.689 602 COL5A2 collagen, type V, alpha 2 2 189.896.641 190.044.668 603 COL6A1 collagen, type VI, alpha 1 21 47.401.663 47.424.963 604 COL6A2 collagen, type VI, alpha 2 21 47.518.033 47.552.763 605 COL6A3 collagen, type VI, alpha 3 2 238.232.655 238.322.850 606 COL7A1 collagen, type VII, alpha 1 3 48.601.506 48.632.593 607 COL8A2 collagen, type VIII, alpha 2 1 36.560.840 36.591.305 608 COL9A1 collagen, type IX, alpha 1 6 70.925.743 71.012.786 609 COL9A2 collagen, type IX, alpha 2 1 40.766.162 40.782.939 610 COL9A3 collagen, type IX, alpha 3 20 61.448.414 61.472.511 611 COLEC11 collectin sub-family member 11 2 3.642.422 3.692.234 612 COLQ collagen-like tail subunit (single strand of homotrimer) of 3 15.491.640 15.563.277 asymmetric acetylcholinesterase 613 COMP cartilage oligomeric matrix protein 19 18.893.583 18.902.114 614 COMT catechol-O-methyltransferase 22 19.929.263 19.957.498 615 COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 4 84.184.972 84.206.067 616 COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 12 120.941.082 120.966.964 617 COQ6 coenzyme Q6 monooxygenase 14 74.416.637 74.429.815 618 COQ9 coenzyme Q9 16 57.481.337 57.495.187 619 CORIN corin, serine peptidase 4 47.596.015 47.840.395 620 CORO1A coronin, actin binding protein, 1A 16 30.194.731 30.200.397 621 COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase 17 13.972.719 14.111.996 assembly factor 622 COX14 COX14 cytochrome c oxidase assembly factor 12 50.503.418 50.514.240 623 COX15 cytochrome c oxidase assembly homolog 15 (yeast) 10 101.455.886 101.492.423 624 COX20 COX20 cytochrome c oxidase assembly factor 1 244.998.608 245.008.359 625 COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung) 20 30.225.685 30.232.837 626 COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 19 36.139.125 36.149.686 627 COX7B cytochrome c oxidase subunit VIIb X 77.154.961 77.160.881 628 CP ceruloplasmin (ferroxidase) 3 148.880.197 148.939.832 629 CPA6 carboxypeptidase A6 8 68.334.405 68.658.620 630 CPN1 carboxypeptidase N, polypeptide 1 10 101.802.065 101.841.642 631 CPOX coproporphyrinogen oxidase 3 98.296.677 98.312.470 632 CPS1 carbamoyl-phosphate synthase 1, mitochondrial 2 211.342.406 211.543.831 633 CPT1A carnitine palmitoyltransferase 1A (liver) 11 68.522.088 68.611.878 634 CPT2 carnitine palmitoyltransferase 2 1 53.662.101 53.679.869 635 CR2 complement component (3d/Epstein Barr virus) receptor 2 1 207.627.645 207.663.240 636 CRADD CASP2 and RIPK1 domain containing adaptor with death domain 12 94.071.121 94.289.530 637 CRB1 crumbs family member 1, photoreceptor morphogenesis 1 197.170.592 197.447.585 associated 638 CRBN cereblon 3 3.191.317 3.221.401 639 CREB1 cAMP responsive element binding protein 1 2 208.394.616 208.470.284 640 CREBBP CREB binding protein 16 3.775.055 3.930.121 641 CRELD1 cysteine-rich with EGF-like domains 1 3 9.975.478 9.987.097 642 CRH corticotropin releasing hormone 8 67.088.612 67.090.846 643 CRLF1 cytokine receptor-like factor 1 19 18.704.035 18.717.660 644 CRTAP cartilage associated protein 3 33.155.450 33.189.265 645 CRX cone-rod homeobox 19 48.323.807 48.346.587 646 CRYAA crystallin, alpha A 21 44.589.141 44.592.915 647 CRYAB crystallin, alpha B 11 111.779.350 111.782.473 648 CRYBA1 crystallin, beta A1 17 27.573.875 27.581.512 649 CRYBA4 crystallin, beta A4 22 27.017.928 27.026.636 650 CRYBB1 crystallin, beta B1 22 26.995.362 27.013.991 651 CRYBB2 crystallin, beta B2 22 25.615.612 25.627.836 652 CRYBB3 crystallin, beta B3 22 25.595.817 25.603.326 653 CRYGB crystallin, gamma B 2 209.007.297 209.010.877 654 CRYGC crystallin, gamma C 2 208.992.861 208.994.554 655 CRYGD crystallin, gamma D 2 208.986.331 208.989.313 656 CRYGS crystallin, gamma S 3 186.256.232 186.263.049 657 CSF1R colony stimulating factor 1 receptor 5 149.432.854 149.492.935 658 CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity Y 1.337.693 1.378.828 (granulocyte-macrophage) 659 CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity X 1.387.693 1.428.828 (granulocyte-macrophage) 660 CSF2RB colony stimulating factor 2 receptor, beta, low-affinity 22 37.309.639 37.336.491 (granulocyte-macrophage) 661 CSF3R colony stimulating factor 3 receptor (granulocyte) 1 36.931.644 36.948.915 662 CSNK1D casein kinase 1, delta 17 80.197.523 80.231.594 663 CSPP1 centrosome and spindle pole associated protein 1 8 67.976.588 68.108.849 664 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) 11 19.203.577 19.232.118 665 CST3 cystatin C 20 23.608.534 23.618.685 666 CSTA cystatin A (stefin A) 3 122.044.011 122.060.816 667 CSTB cystatin B (stefin B) 21 45.193.546 45.196.256 668 CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa X 100.075.348 100.095.924 669 CTC1 CTS telomere maintenance complex component 1 17 8.128.139 8.151.413 670 CTCF CCCTC-binding factor (zinc finger protein) 16 67.596.310 67.673.088 671 CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) 18 77.439.801 77.514.510 phosphatase, subunit 1 672 CTGF connective tissue growth factor 6 132.269.316 132.272.518 673 CTH cystathionine gamma-lyase 1 70.876.901 70.905.534 674 CTHRC1 collagen triple helix repeat containing 1 8 104.383.743 104.395.233 675 CTNNA3 catenin (cadherin-associated protein), alpha 3 10 67.672.276 69.455.949 676 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 3 41.236.401 41.281.939 677 CTNND2 catenin (cadherin-associated protein), delta 2 5 10.971.952 11.904.155 678 CTNS cystinosin, lysosomal cystine transporter 17 3.539.762 3.566.397 679 CTSA cathepsin A 20 44.519.591 44.527.459 680 CTSC cathepsin C 11 88.026.760 88.070.941 681 CTSD cathepsin D 11 1.773.982 1.785.222 682 CTSF cathepsin F 11 66.330.935 66.336.047 683 CTSH cathepsin H 15 79.214.092 79.237.436 684 CTSK cathepsin K 1 150.768.684 150.780.917 685 CUBN cubilin (intrinsic factor-cobalamin receptor) 10 16.865.965 17.171.816 686 CUL3 cullin 3 2 225.334.867 225.450.114 687 CUL4B cullin 4B X 119.658.444 119.709.684 688 CUL7 cullin 7 6 43.005.355 43.021.683 689 CUX2 cut-like homeobox 2 12 111.471.828 111.788.358 690 CXCR4 chemokine (C-X-C motif) receptor 4 2 136.871.919 136.875.725 691 CYB5A cytochrome b5 type A (microsomal) 18 71.920.527 71.959.251 692 CYB5R3 cytochrome b5 reductase 3 22 43.013.846 43.045.405 693 CYBA cytochrome b-245, alpha polypeptide 16 88.709.697 88.717.492 694 CYBB cytochrome b-245, beta polypeptide X 37.639.266 37.672.718 695 CYC1 cytochrome c-1 8 145.149.960 145.152.428 696 CYCS cytochrome c, somatic 7 25.158.270 25.164.980 697 CYLD cylindromatosis (turban tumor syndrome) 16 50.775.961 50.835.847 698 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 15 74.630.103 74.660.081 699 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 8 143.953.773 143.961.236 700 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 8 143.991.975 143.999.259 701 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 10 104.590.288 104.597.290 702 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 15 51.500.254 51.630.795 703 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 15 75.011.883 75.017.951 704 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 15 75.041.184 75.048.941 705 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 2 38.294.746 38.303.323 706 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 32.006.093 32.009.447 707 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 20 52.769.985 52.790.516 708 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 2 72.356.367 72.374.991 709 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 10 94.820.565 94.829.304 710 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 2 219.646.472 219.680.016 711 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 12 58.156.117 58.160.976 712 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 19 41.349.441 41.356.360 713 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 19 41.497.138 41.524.308 714 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 10 96.522.463 96.612.671 715 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 10 96.698.350 96.749.486 716 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 22 42.522.501 42.526.883 717 CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 11 14.899.551 14.913.874 718 CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 4 108.852.716 108.874.617 719 CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 19 15.619.336 15.663.128 720 CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 4 187.112.565 187.134.617 721 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 8 65.508.529 65.711.348 722 D2HGDH D-2-hydroxyglutarate dehydrogenase 2 242.674.030 242.708.231 723 DACT1 dishevelled-binding antagonist of beta-catenin 1 14 59.100.786 59.115.039 724 DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 3 49.506.136 49.573.051 725 DARS aspartyl-tRNA synthetase 2 136.664.252 136.743.254 726 DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1 173.793.719 173.827.682 727 DAZ1 deleted in azoospermia 1 Y 25.275.502 25.345.239 728 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 9 136.501.485 136.524.466 729 DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA 2 120.124.504 120.130.122 binding protein) 730 DBT dihydrolipoamide branched chain transacylase E2 1 100.652.478 100.715.409 731 DCAF17 DDB1 and CUL4 associated factor 17 2 172.290.761 172.341.562 732 DCC DCC netrin 1 receptor 18 49.866.542 51.062.273 733 DCHS1 dachsous cadherin-related 1 11 6.642.556 6.685.320 734 DCHS2 dachsous cadherin-related 2 4 155.155.527 155.412.930 735 DCK deoxycytidine kinase 4 71.859.265 71.896.631 736 DCLRE1C DNA cross-link repair 1C 10 14.948.870 14.996.106 737 DCN decorin 12 91.539.035 91.576.806 738 DCTN1 dynactin 1 2 74.588.281 74.619.214 739 DCX doublecortin X 110.537.007 110.655.460 740 DCXR dicarbonyl/L-xylulose reductase 17 79.993.757 79.995.573 741 DDB1 damage-specific DNA binding protein 1, 127kDa 11 61.066.919 61.100.691 742 DDB2 damage-specific DNA binding protein 2, 48kDa 11 47.236.493 47.260.769 743 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 7 50.526.134 50.633.154 744 DDHD1 DDHD domain containing 1 14 53.503.458 53.620.046 745 DDHD2 DDHD domain containing 2 8 38.088.861 38.120.351 746 DDIT3 DNA-damage-inducible transcript 3 12 57.910.371 57.914.300 747 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase 1 20.978.260 20.988.037 subunit (non-catalytic) 748 DDR2 discoidin domain receptor tyrosine kinase 2 1 162.602.228 162.756.409 749 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 12 31.226.779 31.257.733 750 DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 1 200.609.935 200.639.126 751 DEAF1 DEAF1 transcription factor 11 644.225 695.740 752 DEC1 deleted in esophageal cancer 1 9 117.904.097 118.164.923 753 DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 8 91.013.580 91.064.232 754 DEPDC5 DEP domain containing 5 22 32.149.937 32.303.020 755 DES desmin 2 220.283.099 220.291.461 756 DFNA5 deafness, autosomal dominant 5 7 24.737.974 24.797.639 757 DFNB31 deafness, autosomal recessive 31 9 117.164.360 117.267.789 758 DFNB59 deafness, autosomal recessive 59 2 179.316.163 179.326.149 759 DGKE diacylglycerol kinase, epsilon 64kDa 17 54.911.460 54.946.036 760 DGUOK deoxyguanosine kinase 2 74.153.953 74.186.088 761 DHCR24 24-dehydrocholesterol reductase 1 55.315.300 55.352.921 762 DHCR7 7-dehydrocholesterol reductase 11 71.145.457 71.159.477 763 DHDDS dehydrodolichyl diphosphate synthase 1 26.758.773 26.797.797 764 DHFR dihydrofolate reductase 5 79.922.045 79.950.800 765 DHH desert hedgehog 12 49.483.204 49.488.602 766 DHODH dihydroorotate dehydrogenase (quinone) 16 72.042.643 72.059.316 767 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 10 12.110.916 12.165.227 768 DIABLO diablo, IAP-binding mitochondrial protein 12 122.692.209 122.712.081 769 DIAPH1 diaphanous-related formin 1 5 140.894.588 140.998.622 770 DIAPH2 diaphanous-related formin 2 X 95.939.650 96.855.597 771 DIAPH3 diaphanous-related formin 3 13 60.239.717 60.738.119 772 DICER1 dicer 1, ribonuclease type III 14 95.552.565 95.623.759 773 DIO1 deiodinase, iodothyronine, type I 1 54.359.860 54.376.763 774 DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) 12 50.898.768 51.142.450 775 DIRC2 disrupted in renal carcinoma 2 3 122.513.901 122.599.986 776 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 2 232.826.293 233.208.678 777 DISC2 disrupted in schizophrenia 2 (non-protein coding) 1 231.950.372 231.954.263 778 DISP1 dispatched homolog 1 (Drosophila) 1 222.988.342 223.179.337 779 DKC1 dyskeratosis congenita 1, dyskerin X 153.991.031 154.005.964 780 DKK1 dickkopf WNT signaling pathway inhibitor 1 10 54.074.041 54.077.417 781 DLAT dihydrolipoamide S-acetyltransferase 11 111.895.538 111.935.002 782 DLD dihydrolipoamide dehydrogenase 7 107.531.586 107.561.643 783 DLEC1 deleted in lung and esophageal cancer 1 3 38.080.497 38.164.228 784 DLG1 discs, large homolog 1 (Drosophila) 3 196.769.431 197.026.171 785 DLG3 discs, large homolog 3 (Drosophila) X 69.664.705 69.725.343 786 DLG5 discs, large homolog 5 (Drosophila) 10 79.550.549 79.686.348 787 DLL3 delta-like 3 (Drosophila) 19 39.989.557 39.999.121 788 DLX3 distal-less homeobox 3 17 48.067.369 48.072.588 789 DLX5 distal-less homeobox 5 7 96.649.702 96.654.143 790 DMD dystrophin X 31.137.345 33.357.726 791 DMGDH dimethylglycine dehydrogenase 5 78.293.387 78.365.497 792 DMP1 dentin matrix acidic phosphoprotein 1 4 88.571.454 88.585.513 793 DMPK dystrophia myotonica-protein kinase 19 46.272.975 46.285.815 794 DMRT1 doublesex and mab-3 related transcription factor 1 9 841.690 969.090 795 DMRT2 doublesex and mab-3 related transcription factor 2 9 1.049.858 1.057.554 796 DNA2 DNA replication helicase/nuclease 2 10 70.173.821 70.231.878 797 DNAAF1 dynein, axonemal, assembly factor 1 16 84.178.865 84.211.524 798 DNAAF2 dynein, axonemal, assembly factor 2 14 50.091.892 50.101.948 799 DNAAF3 dynein, axonemal, assembly factor 3 19 55.670.029 55.678.090 800 DNAAF5 dynein, axonemal, assembly factor 5 7 766.338 826.116 801 DNAH11 dynein, axonemal, heavy chain 11 7 21.582.833 21.941.451 802 DNAH5 dynein, axonemal, heavy chain 5 5 13.690.437 14.011.841 803 DNAI1 dynein, axonemal, intermediate chain 1 9 34.458.750 34.520.987 804 DNAI2 dynein, axonemal, intermediate chain 2 17 72.270.386 72.311.023 805 DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 2 220.144.040 220.151.622 806 DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 7 157.129.692 157.210.133 807 DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 3 180.701.497 180.707.562 808 DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 20 62.526.455 62.567.384 809 DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 1 65.720.133 65.881.552 810 DNAL1 dynein, axonemal, light chain 1 14 74.111.578 74.170.431 811 DNASE1L3 deoxyribonuclease I-like 3 3 58.178.353 58.196.730 812 DNM1L dynamin 1-like 12 32.832.134 32.898.584 813 DNM2 dynamin 2 19 10.828.729 10.944.169 814 DNMT1 DNA (cytosine-5-)-methyltransferase 1 19 10.244.021 10.305.783 815 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 20 31.350.191 31.397.162 816 DOCK6 dedicator of cytokinesis 6 19 11.309.969 11.373.168 817 DOCK8 dedicator of cytokinesis 8 9 214.865 465.259 818 DOK7 docking protein 7 4 3.465.033 3.503.203 819 DOLK dolichol kinase 9 131.707.809 131.710.012 820 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N- 11 118.967.213 118.973.124 acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

821 DPEP1 dipeptidase 1 (renal) 16 89.679.716 89.707.216 822 DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic 20 49.551.404 49.575.081 subunit 823 DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory 9 130.697.374 130.700.763 subunit 824 DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 1 155.112.367 155.112.996 825 DPP6 dipeptidyl-peptidase 6 7 153.584.419 154.264.025 826 DPP6 dipeptidyl-peptidase 6 7 154.400.205 154.685.995 827 DPY19L2 dpy-19-like 2 (C. elegans) 12 63.952.693 64.062.354 828 DPYD dihydropyrimidine dehydrogenase 1 97.543.299 98.386.615 829 DPYS dihydropyrimidinase 8 105.391.652 105.479.281 830 DRC1 dynein regulatory complex subunit 1 2 26.624.784 26.679.579 831 DRD2 dopamine receptor D2 11 113.280.317 113.346.413 832 DSC2 desmocollin 2 18 28.645.938 28.682.388 833 DSC3 desmocollin 3 18 28.570.052 28.622.781 834 DSE dermatan sulfate epimerase 6 116.601.231 116.762.422 835 DSG1 desmoglein 1 18 28.898.052 28.937.394 836 DSG2 desmoglein 2 18 29.078.027 29.128.814 837 DSG4 desmoglein 4 18 28.956.740 28.993.880 838 DSP desmoplakin 6 7.541.808 7.586.946 839 DSPP dentin sialophosphoprotein 4 88.529.681 88.538.025 840 DST dystonin 6 56.322.785 56.819.426 841 DTNA dystrobrevin, alpha 18 32.073.254 32.471.808 842 DTNBP1 dystrobrevin binding protein 1 6 15.523.032 15.663.289 843 DUOX2 dual oxidase 2 15 45.384.851 45.406.537 844 DUOXA2 dual oxidase maturation factor 2 15 45.406.523 45.410.304 845 DUSP6 dual specificity phosphatase 6 12 89.741.837 89.746.296 846 DYM dymeclin 18 46.567.846 46.987.172 847 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 14 102.430.865 102.517.135 848 DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 11 102.980.160 103.350.591 849 DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21 38.739.859 38.887.679 850 DYSF dysferlin 2 71.680.347 71.913.895 851 DYX1C1 dyslexia susceptibility 1 candidate 1 15 55.709.953 55.800.432 852 EARS2 glutamyl-tRNA synthetase 2, mitochondrial 16 23.533.334 23.568.696 853 EBP emopamil binding protein (sterol isomerase) X 48.379.306 48.387.104 854 ECE1 endothelin converting enzyme 1 1 21.543.740 21.672.034 855 ECEL1 endothelin converting enzyme-like 1 2 233.344.537 233.352.532 856 ECM1 extracellular matrix protein 1 1 150.480.487 150.486.265 857 EDA ectodysplasin A X 68.835.911 69.259.322 858 EDAR ectodysplasin A receptor 2 109.510.927 109.605.828 859 EDARADD EDAR-associated death domain 1 236.557.680 236.648.008 860 EDN1 endothelin 1 6 12.290.529 12.297.427 861 EDN3 endothelin 3 20 57.875.499 57.901.047 862 EDNRA endothelin receptor type A 4 148.402.069 148.466.106 863 EDNRB endothelin receptor type B 13 78.469.616 78.549.664 864 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 20 62.119.365 62.130.668 865 EEF1B2 eukaryotic translation elongation factor 1 beta 2 2 207.024.318 207.027.653 866 EEF2 eukaryotic translation elongation factor 2 19 3.976.054 3.985.477 867 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 2 56.093.097 56.151.298 868 EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 11 65.633.912 65.640.405 869 EFHC1 EF-hand domain (C-terminal) containing 1 6 52.284.994 52.360.583 870 EFNB1 ephrin-B1 X 68.048.840 68.062.007 871 EFTUD2 elongation factor Tu GTP binding domain containing 2 17 42.927.655 42.976.993 872 EGF epidermal growth factor 4 110.834.040 110.934.118 873 EGFR epidermal growth factor receptor 7 55.086.678 55.279.262 874 EGLN1 egl-9 family hypoxia-inducible factor 1 1 231.499.497 231.560.790 875 EGR2 early growth response 2 10 64.571.756 64.578.927 876 EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 3 184.908.412 184.971.886 877 EHMT1 euchromatic histone-lysine N-methyltransferase 1 9 140.513.444 140.730.579 878 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 2 88.856.259 88.927.094 879 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 15 40.226.331 40.327.797 880 EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 12 124.105.570 124.118.323

881 EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 14 75.469.612 75.476.294 882 EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 1 45.316.194 45.452.394 58kDa 883 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 2 27.587.219 27.593.324

884 EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 3 183.852.810 183.863.099

885 EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa X 24.073.065 24.096.927

886 EIF4A3 eukaryotic translation initiation factor 4A3 17 78.109.013 78.120.982 887 EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 3 184.032.283 184.053.146 888 ELAC2 elaC ribonuclease Z 2 17 12.894.929 12.921.381 889 ELANE elastase, neutrophil expressed 19 850.989 856.246 890 ELK1 ELK1, member of ETS oncogene family X 47.493.744 47.510.003 891 ELMOD3 ELMO/CED-12 domain containing 3 2 85.581.843 85.618.875 892 ELN elastin 7 73.442.119 73.484.237 893 ELOVL4 ELOVL fatty acid elongase 4 6 80.624.529 80.657.315 894 ELP2 elongator acetyltransferase complex subunit 2 18 33.709.837 33.754.688 895 ELP4 elongator acetyltransferase complex subunit 4 11 31.531.297 31.806.073 896 EMD emerin X 153.607.597 153.609.883 897 EMG1 EMG1 N1-specific pseudouridine methyltransferase 12 7.079.944 7.085.165 898 EMX2 empty spiracles homeobox 2 10 119.301.956 119.309.057 899 ENAM enamelin 4 71.494.461 71.512.536 900 ENG endoglin 9 130.577.291 130.617.052 901 ENO3 enolase 3 (beta, muscle) 17 4.853.404 4.860.426 902 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 6 132.129.156 132.216.295 903 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 10 97.471.536 97.637.023 904 EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) 3 69.024.363 69.063.112 transferase 905 EP300 E1A binding protein p300 22 41.488.614 41.576.081 906 EPAS1 endothelial PAS domain protein 1 2 46.524.541 46.613.842 907 EPB41 erythrocyte membrane protein band 4.1 1 29.213.603 29.446.558 908 EPB41L1 erythrocyte membrane protein band 4.1-like 1 20 34.679.426 34.820.721 909 EPB42 erythrocyte membrane protein band 4.2 15 43.489.425 43.513.323 910 EPCAM epithelial cell adhesion molecule 2 47.596.287 47.614.167 911 EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) 18 43.427.574 43.547.305 912 EPHA2 EPH receptor A2 1 16.450.832 16.482.582 913 EPHB2 EPH receptor B2 1 23.037.263 23.241.823 914 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 1 225.997.797 226.033.264 915 EPHX2 epoxide hydrolase 2, cytoplasmic 8 27.348.519 27.402.439 916 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 6 145.946.440 146.057.128 917 EPS8L3 EPS8-like 3 1 110.292.702 110.306.644 918 EPX eosinophil peroxidase 17 56.270.089 56.282.535 919 ERBB2 erb-b2 receptor tyrosine kinase 2 17 37.844.167 37.884.915 920 ERBB3 erb-b2 receptor tyrosine kinase 3 12 56.473.809 56.497.291 921 ERBB4 erb-b2 receptor tyrosine kinase 4 2 212.240.442 213.403.879 922 ERCC1 excision repair cross-complementation group 1 19 45.910.591 45.982.241 923 ERCC2 excision repair cross-complementation group 2 19 45.854.649 45.873.845 924 ERCC3 excision repair cross-complementation group 3 2 128.014.866 128.051.752 925 ERCC4 excision repair cross-complementation group 4 16 14.014.014 14.046.205 926 ERCC5 excision repair cross-complementation group 5 13 103.498.191 103.528.351 927 ERCC6 excision repair cross-complementation group 6 10 50.662.526 50.747.169 928 ERCC6L2 excision repair cross-complementation group 6-like 2 9 98.637.900 98.731.122 929 ERCC8 excision repair cross-complementation group 8 5 60.169.659 60.240.905 930 ERF Ets2 repressor factor 19 42.751.717 42.759.309 931 ERLIN2 ER lipid raft associated 2 8 37.593.743 37.615.319 932 ERMAP erythroblast membrane-associated protein (Scianna blood group) 1 43.282.776 43.310.660

933 ERMARD ER membrane-associated RNA degradation 6 170.151.718 170.181.680 934 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 8 27.632.057 27.670.141

935 ESPN espin 1 6.484.836 6.521.004 936 ESR1 estrogen receptor 1 6 152.011.631 152.424.409 937 ESRRB estrogen-related receptor beta 14 76.837.690 76.968.182 938 ETFA electron-transfer-flavoprotein, alpha polypeptide 15 76.508.628 76.603.810 939 ETFB electron-transfer-flavoprotein, beta polypeptide 19 51.848.409 51.869.672 940 ETFDH electron-transferring-flavoprotein dehydrogenase 4 159.593.277 159.629.842 941 ETHE1 ethylmalonic encephalopathy 1 19 44.010.871 44.031.408 942 ETV1 ets variant 1 7 13.930.854 14.031.050 943 ETV6 ets variant 6 12 11.802.788 12.048.336 944 EVC Ellis van Creveld syndrome 4 5.712.924 5.816.031 945 EVC2 Ellis van Creveld syndrome 2 4 5.544.531 5.711.275 946 EWSR1 EWS RNA-binding protein 1 22 29.663.998 29.696.515 947 EXOSC3 exosome component 3 9 37.779.711 37.785.089 948 EXPH5 exophilin 5 11 108.376.158 108.464.492 949 EXT1 exostosin glycosyltransferase 1 8 118.811.602 119.124.058 950 EXT2 exostosin glycosyltransferase 2 11 44.117.099 44.266.980 951 EYA1 EYA transcriptional coactivator and phosphatase 1 8 72.109.668 72.459.888 952 EYA4 EYA transcriptional coactivator and phosphatase 4 6 133.561.512 133.853.258 953 EYS eyes shut homolog (Drosophila) 6 64.429.876 66.417.118 954 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 7 148.504.464 148.581.441 955 F10 coagulation factor X 13 113.777.113 113.803.843 956 F11 coagulation factor XI 4 187.187.099 187.210.835 957 F12 coagulation factor XII (Hageman factor) 5 176.829.139 176.836.577 958 F13A1 coagulation factor XIII, A1 polypeptide 6 6.144.311 6.320.924 959 F13B coagulation factor XIII, B polypeptide 1 197.007.877 197.036.568 960 F2 coagulation factor II (thrombin) 11 46.740.743 46.761.056 961 F5 coagulation factor V (proaccelerin, labile factor) 1 169.481.192 169.555.769 962 F7 coagulation factor VII (serum prothrombin conversion accelerator) 13 113.760.102 113.774.995 963 F8 coagulation factor VIII, procoagulant component X 154.064.063 154.255.351 964 F9 coagulation factor IX X 138.612.889 138.645.617 965 FA2H fatty acid 2-hydroxylase 16 74.746.853 74.808.729 966 FADD Fas (TNFRSF6)-associated via death domain 11 70.049.269 70.053.508 967 FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 15 80.445.233 80.478.924 968 FAM111A family with sequence similarity 111, member A 11 58.910.219 58.922.512 969 FAM126A family with sequence similarity 126, member A 7 22.980.878 23.053.814 970 FAM134B family with sequence similarity 134, member B 5 16.472.922 16.617.167 971 FAM161A family with sequence similarity 161, member A 2 62.051.983 62.081.278 972 FAM20A family with sequence similarity 20, member A 17 66.531.257 66.597.095 973 FAM20C family with sequence similarity 20, member C 7 192.969 300.740 974 FAM58A family with sequence similarity 58, member A X 152.853.383 152.864.632 975 FAM83H family with sequence similarity 83, member H 8 144.806.103 144.822.710 976 FAN1 FANCD2/FANCI-associated nuclease 1 15 31.191.703 31.235.311 977 FANCA Fanconi anemia, complementation group A 16 89.803.959 89.883.066 978 FANCB Fanconi anemia, complementation group B X 14.861.529 14.891.184 979 FANCC Fanconi anemia, complementation group C 9 97.861.336 98.079.991 980 FANCD2 Fanconi anemia, complementation group D2 3 10.068.113 10.143.614 981 FANCE Fanconi anemia, complementation group E 6 35.420.116 35.434.918 982 FANCF Fanconi anemia, complementation group F 11 22.644.079 22.647.387 983 FANCG Fanconi anemia, complementation group G 9 35.073.833 35.080.043 984 FANCI Fanconi anemia, complementation group I 15 89.785.634 89.860.362 985 FANCL Fanconi anemia, complementation group L 2 58.386.378 58.468.515 986 FANCM Fanconi anemia, complementation group M 14 45.605.136 45.670.093 987 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial 6 5.261.251 5.771.816 988 FAS Fas cell surface death receptor 10 90.750.288 90.775.542 989 FASLG Fas ligand (TNF superfamily, member 6) 1 172.628.185 172.636.013 990 FASN fatty acid synthase 17 80.036.214 80.056.106 991 FASTKD2 FAST kinase domains 2 2 207.630.112 207.660.913 992 FAT4 FAT atypical cadherin 4 4 126.237.003 126.414.087 993 FBLN1 fibulin 1 22 45.898.719 45.997.014 994 FBLN5 fibulin 5 14 92.335.755 92.414.046 995 FBN1 fibrillin 1 15 48.700.503 48.937.985 996 FBN2 fibrillin 2 5 127.593.601 127.873.735 997 FBP1 fructose-1,6-bisphosphatase 1 9 97.365.415 97.402.531 998 FBXL4 F-box and leucine-rich repeat protein 4 6 99.321.601 99.395.882 999 FBXO38 F-box protein 38 5 147.763.498 147.822.399 1000 FBXO7 F-box protein 7 22 32.870.707 32.894.818 1001 FBXW4 F-box and WD repeat domain containing 4 10 103.370.421 103.455.345 1002 FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) 1 161.551.129 161.571.010 (gene/pseudogene) 1003 FCN3 ficolin (collagen/fibrinogen domain containing) 3 1 27.695.601 27.701.315 1004 FECH ferrochelatase 18 55.212.073 55.253.969 1005 FERMT1 fermitin family member 1 20 6.055.492 6.104.191 1006 FERMT3 fermitin family member 3 11 63.974.152 63.991.363 1007 FGA fibrinogen alpha chain 4 155.504.280 155.511.897 1008 FGB fibrinogen beta chain 4 155.484.132 155.493.915 1009 FGD1 FYVE, RhoGEF and PH domain containing 1 X 54.471.887 54.522.599 1010 FGD4 FYVE, RhoGEF and PH domain containing 4 12 32.552.518 32.798.984 1011 FGF10 fibroblast growth factor 10 5 44.305.004 44.389.808 1012 FGF14 fibroblast growth factor 14 13 102.373.205 103.054.124 1013 FGF16 fibroblast growth factor 16 X 76.709.645 76.712.013 1014 FGF17 fibroblast growth factor 17 8 21.900.264 21.906.320 1015 FGF20 fibroblast growth factor 20 8 16.850.334 16.859.674 1016 FGF23 fibroblast growth factor 23 12 4.477.393 4.488.894 1017 FGF3 fibroblast growth factor 3 11 69.624.736 69.634.192 1018 FGF8 fibroblast growth factor 8 (androgen-induced) 10 103.529.887 103.540.126 1019 FGF9 fibroblast growth factor 9 13 22.245.215 22.278.640 1020 FGFR1 fibroblast growth factor receptor 1 8 38.268.656 38.326.352 1021 FGFR2 fibroblast growth factor receptor 2 10 123.237.844 123.357.972 1022 FGFR3 fibroblast growth factor receptor 3 4 1.795.039 1.810.599 1023 FH fumarate hydratase 1 241.660.857 241.683.085 1024 FHL1 four and a half LIM domains 1 X 135.228.861 135.293.518 1025 FHL2 four and a half LIM domains 2 2 105.977.272 106.055.230 1026 FIG4 FIG4 phosphoinositide 5-phosphatase 6 110.012.424 110.146.634 1027 FIGLA folliculogenesis specific basic helix-loop-helix 2 71.004.442 71.017.775 1028 FKBP10 FK506 binding protein 10, 65 kDa 17 39.968.962 39.979.469 1029 FKBP14 FK506 binding protein 14, 22 kDa 7 30.050.199 30.066.417 1030 FKRP fukutin related protein 19 47.249.303 47.261.832 1031 FKTN fukutin 9 108.320.411 108.403.399 1032 FLCN folliculin 17 17.115.523 17.140.502 1033 FLG filaggrin 1 152.274.651 152.297.679 1034 FLNA filamin A, alpha X 153.576.900 153.603.006 1035 FLNB filamin B, beta 3 57.994.127 58.157.982 1036 FLNC filamin C, gamma 7 128.470.436 128.499.328 1037 FLRT3 fibronectin leucine rich transmembrane protein 3 20 14.304.639 14.318.313 1038 FLT3 fms-related tyrosine kinase 3 13 28.577.411 28.682.904 1039 FLT4 fms-related tyrosine kinase 4 5 180.028.506 180.076.624 1040 FLVCR1 feline leukemia virus subgroup C cellular receptor 1 1 213.031.597 213.072.705 1041 FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 14 76.044.940 76.114.512 2 1042 FMO3 flavin containing monooxygenase 3 1 171.060.018 171.086.961 1043 FMR1 fragile X mental retardation 1 X 146.993.469 147.032.647 1044 FN1 fibronectin 1 2 216.225.177 216.300.890 1045 FOLR1 folate receptor 1 (adult) 11 71.900.602 71.907.367 1046 FOS FBJ murine osteosarcoma viral oncogene homolog 14 75.745.477 75.748.937 1047 FOXC1 forkhead box C1 6 1.610.681 1.614.132 1048 FOXC2 forkhead box C2 16 86.600.857 86.602.539 1049 FOXE1 forkhead box E1 9 100.615.537 100.618.997 1050 FOXE3 forkhead box E3 1 47.881.744 47.883.724 1051 FOXF1 forkhead box F1 16 86.544.133 86.548.070 1052 FOXG1 forkhead box G1 14 29.236.278 29.239.483 1053 FOXI1 forkhead box I1 5 169.532.917 169.536.729 1054 FOXL2 forkhead box L2 3 138.663.066 138.665.982 1055 FOXN1 forkhead box N1 17 26.833.249 26.865.175 1056 FOXO1 forkhead box O1 13 41.129.801 41.240.734 1057 FOXO4 forkhead box O4 X 70.315.999 70.323.384 1058 FOXP1 forkhead box P1 3 71.003.865 71.633.140 1059 FOXP2 forkhead box P2 7 113.726.365 114.333.827 1060 FOXP3 forkhead box P3 X 49.106.897 49.122.200 1061 FOXRED1 FAD-dependent oxidoreductase domain containing 1 11 126.138.935 126.148.027 1062 FRAS1 Fraser extracellular matrix complex subunit 1 4 78.978.724 79.465.423 1063 FREM1 FRAS1 related extracellular matrix 1 9 14.734.664 14.910.993 1064 FREM2 FRAS1 related extracellular matrix protein 2 13 39.261.173 39.461.268 1065 FRG1 FSHD region gene 1 4 190.861.974 190.884.360 1066 FRMD7 FERM domain containing 7 X 131.211.021 131.262.050 1067 FRMPD4 FERM and PDZ domain containing 4 X 12.156.585 12.742.642 1068 FRY furry homolog (Drosophila) 13 32.605.269 32.870.794 1069 FSCN2 fascin actin-bundling protein 2, retinal 17 79.481.022 79.504.156 1070 FSHB follicle stimulating hormone, beta polypeptide 11 30.252.563 30.256.824 1071 FSHR follicle stimulating hormone receptor 2 49.189.296 49.381.666 1072 FTCD formimidoyltransferase cyclodeaminase 21 47.556.065 47.575.499 1073 FTH1 ferritin, heavy polypeptide 1 11 61.731.757 61.735.132 1074 FTL ferritin, light polypeptide 19 49.467.659 49.470.136 1075 FTO fat mass and obesity associated 16 53.737.875 54.148.379 1076 FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli) X 48.334.454 48.344.752 1077 FUCA1 fucosidase, alpha-L- 1, tissue 1 24.171.567 24.194.859 1078 FUCA2 fucosidase, alpha-L- 2, plasma 6 143.815.949 143.833.020 1079 FUS FUS RNA binding protein 16 31.191.431 31.206.192 1080 FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) 19 5.830.637 5.839.764 1081 FUZ fuzzy planar cell polarity protein 19 50.310.123 50.316.567 1082 FXN frataxin 9 71.650.479 71.715.094 1083 FXYD2 FXYD domain containing ion transport regulator 2 11 117.690.790 117.699.408 1084 FYCO1 FYVE and coiled-coil domain containing 1 3 45.959.391 46.037.316 1085 FZD4 frizzled class receptor 4 11 86.656.717 86.666.440 1086 FZD6 frizzled class receptor 6 8 104.310.661 104.345.094 1087 G6PC glucose-6-phosphatase, catalytic subunit 17 41.052.814 41.066.450 1088 G6PC3 glucose 6 phosphatase, catalytic, 3 17 42.148.098 42.153.712 1089 G6PD glucose-6-phosphate dehydrogenase X 153.759.606 153.775.796 1090 GAA glucosidase, alpha; acid 17 78.075.339 78.093.680 1091 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 5 161.274.197 161.326.965 1092 GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 X 151.334.706 151.619.831 1093 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 15 26.788.693 27.018.935 1094 GABRD gamma-aminobutyric acid (GABA) A receptor, delta 1 1.950.768 1.962.192 1095 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 5 161.494.648 161.582.545 1096 GAD1 glutamate decarboxylase 1 (brain, 67kDa) 2 171.673.200 171.717.661 1097 GALC galactosylceramidase 14 88.304.164 88.460.009 1098 GALE UDP-galactose-4-epimerase 1 24.122.089 24.127.294 1099 GALK1 galactokinase 1 17 73.754.018 73.761.280 1100 GALNS galactosamine (N-acetyl)-6-sulfatase 16 88.880.142 88.923.374 1101 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 2 166.604.313 166.650.803 1102 GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5 7 151.653.464 151.717.019 1103 GALT galactose-1-phosphate uridylyltransferase 9 34.646.586 34.650.595 1104 GAMT guanidinoacetate N-methyltransferase 19 1.397.025 1.401.569 1105 GAN gigaxonin 16 81.348.571 81.413.803 1106 GARS glycyl-tRNA synthetase 7 30.634.181 30.673.649 1107 GATA1 GATA binding protein 1 (globin transcription factor 1) X 48.644.982 48.652.718 1108 GATA2 GATA binding protein 2 3 128.198.265 128.212.030 1109 GATA3 GATA binding protein 3 10 8.087.294 8.117.164 1110 GATA4 GATA binding protein 4 8 11.534.433 11.617.510 1111 GATA6 GATA binding protein 6 18 19.749.404 19.782.491 1112 GATAD1 GATA zinc finger domain containing 1 7 92.076.762 92.089.381 1113 GATAD2B GATA zinc finger domain containing 2B 1 153.777.201 153.895.451 1114 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 15 45.653.322 45.670.980

1115 GBA glucosidase, beta, acid 1 155.204.239 155.214.653 1116 GBA2 glucosidase, beta (bile acid) 2 9 35.736.863 35.749.925 1117 GBE1 glucan (1,4-alpha-), branching enzyme 1 3 81.538.850 81.810.950 1118 GCDH glutaryl-CoA dehydrogenase 19 13.001.943 13.010.813 1119 GCH1 GTP cyclohydrolase 1 14 55.308.723 55.369.603 1120 GCK glucokinase (hexokinase 4) 7 44.183.870 44.229.022 1121 GCLC glutamate-cysteine ligase, catalytic subunit 6 53.362.139 53.409.927 1122 GCM2 glial cells missing homolog 2 (Drosophila) 6 10.873.456 10.882.098 1123 GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood 6 10.521.542 10.629.601 group) 1124 GCSH glycine cleavage system protein H (aminomethyl carrier) 16 81.115.552 81.129.980 1125 GDAP1 ganglioside induced differentiation associated protein 1 8 75.262.618 75.279.345 1126 GDF1 growth differentiation factor 1 19 18.979.361 19.006.953 1127 GDF2 growth differentiation factor 2 10 48.413.092 48.416.853 1128 GDF3 growth differentiation factor 3 12 7.842.381 7.848.360 1129 GDF5 growth differentiation factor 5 20 34.021.149 34.026.027 1130 GDF6 growth differentiation factor 6 8 97.154.558 97.173.020 1131 GDI1 GDP dissociation inhibitor 1 X 153.665.259 153.671.814 1132 GDNF glial cell derived neurotrophic factor 5 37.812.779 37.839.782 1133 GFAP glial fibrillary acidic protein 17 42.982.994 42.992.920 1134 GFER growth factor, augmenter of liver regeneration 16 2.034.150 2.037.750 1135 GFI1 growth factor independent 1 transcription repressor 1 92.940.318 92.952.433 1136 GFI1B growth factor independent 1B transcription repressor 9 135.820.888 135.867.084 1137 GFM1 G elongation factor, mitochondrial 1 3 158.362.286 158.410.361 1138 GFPT1 glutamine--fructose-6-phosphate transaminase 1 2 69.546.901 69.614.386 1139 GGCX gamma-glutamyl carboxylase 2 85.771.978 85.788.657 1140 GH1 growth hormone 1 17 61.994.560 61.996.206 1141 GHR growth hormone receptor 5 42.423.577 42.721.980 1142 GHRH growth hormone releasing hormone 20 35.879.489 35.887.534 1143 GHRHR growth hormone releasing hormone receptor 7 31.003.636 31.019.146 1144 GHSR growth hormone secretagogue receptor 3 172.161.081 172.166.246 1145 GIF gastric intrinsic factor (vitamin B synthesis) 11 59.596.746 59.612.974 1146 GIGYF2 GRB10 interacting GYF protein 2 2 233.562.015 233.725.287 1147 GIP gastric inhibitory polypeptide 17 47.035.918 47.045.955 1148 GIPC3 GIPC PDZ domain containing family, member 3 19 3.585.557 3.593.539 1149 GJA1 gap junction protein, alpha 1, 43kDa 6 121.756.745 121.770.873 1150 GJA3 gap junction protein, alpha 3, 46kDa 13 20.712.394 20.735.524 1151 GJA5 gap junction protein, alpha 5, 40kDa 1 147.228.332 147.253.165 1152 GJA8 gap junction protein, alpha 8, 50kDa 1 147.374.946 147.381.396 1153 GJB1 gap junction protein, beta 1, 32kDa X 70.435.062 70.445.065 1154 GJB2 gap junction protein, beta 2, 26kDa 13 20.761.602 20.768.605 1155 GJB3 gap junction protein, beta 3, 31kDa 1 35.246.790 35.251.967 1156 GJB4 gap junction protein, beta 4, 30.3kDa 1 35.225.342 35.229.325 1157 GJB6 gap junction protein, beta 6, 30kDa 13 20.796.101 20.806.534 1158 GJC2 gap junction protein, gamma 2, 47kDa 1 228.337.415 228.347.527 1159 GK glycerol kinase X 30.671.476 30.749.579 1160 GLA galactosidase, alpha X 100.652.779 100.663.001 1161 GLB1 galactosidase, beta 1 3 33.038.100 33.138.694 1162 GLDC glycine dehydrogenase (decarboxylating) 9 6.532.464 6.645.692 1163 GLE1 GLE1 RNA export mediator 9 131.266.971 131.304.580 1164 GLI2 GLI family zinc finger 2 2 121.493.441 121.750.229 1165 GLI3 GLI family zinc finger 3 7 42.000.547 42.277.469 1166 GLIS2 GLIS family zinc finger 2 16 4.366.240 4.389.598 1167 GLIS3 GLIS family zinc finger 3 9 3.824.128 4.300.036 1168 GLMN glomulin, FKBP associated protein 1 92.711.955 92.764.566 1169 GLRA1 glycine receptor, alpha 1 5 151.202.074 151.304.397 1170 GLRB glycine receptor, beta 4 157.997.277 158.093.251 1171 GLRX5 glutaredoxin 5 14 96.001.323 96.011.055 1172 GLUD1 glutamate dehydrogenase 1 10 88.809.959 88.854.776 1173 GLUL glutamate-ammonia ligase 1 182.350.839 182.361.341 1174 GLYCTK glycerate kinase 3 52.321.836 52.329.272 1175 GM2A GM2 ganglioside activator 5 150.632.613 150.650.083 1176 GMPPA GDP-mannose pyrophosphorylase A 2 220.363.587 220.371.718 1177 GMPPB GDP-mannose pyrophosphorylase B 3 49.758.909 49.761.407 1178 GMPS guanine monphosphate synthase 3 155.588.325 155.657.150 1179 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 19 3.094.408 3.121.468

1180 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting 3 50.264.120 50.296.786 activity polypeptide 2 1181 GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting 1 110.091.186 110.138.465 activity polypeptide 3 1182 GNAL guanine nucleotide binding protein (G protein), alpha activating 18 11.689.014 11.885.684 activity polypeptide, olfactory type 1183 GNAO1 guanine nucleotide binding protein (G protein), alpha activating 16 56.225.251 56.391.356 activity polypeptide O 1184 GNAQ guanine nucleotide binding protein (G protein), q polypeptide 9 80.335.189 80.646.219 1185 GNAS GNAS complex locus 20 57.414.756 57.486.250 1186 GNAS-AS1 GNAS antisense RNA 1 20 57.393.973 57.425.958 1187 GNAT1 guanine nucleotide binding protein (G protein), alpha transducing 3 50.229.043 50.235.129 activity polypeptide 1 1188 GNAT2 guanine nucleotide binding protein (G protein), alpha transducing 1 110.145.889 110.155.705 activity polypeptide 2 1189 GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 3 179.113.876 179.169.371

1190 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine 9 36.214.438 36.277.053 kinase 1191 GNMT glycine N-methyltransferase 6 42.928.500 42.931.618 1192 GNPAT glyceronephosphate O-acyltransferase 1 231.376.919 231.413.719 1193 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta 12 102.139.275 102.224.645 subunits 1194 GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit 16 1.401.900 1.413.352 1195 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing 8 25.276.774 25.282.556 hormone) 1196 GNRHR gonadotropin-releasing hormone receptor 4 68.603.093 68.621.804 1197 GNS glucosamine (N-acetyl)-6-sulfatase 12 65.107.222 65.153.226 1198 GOLGA5 golgin A5 14 93.260.576 93.306.308 1199 GON4L gon-4-like (C. elegans) 1 155.719.450 155.829.185 1200 GOPC golgi-associated PDZ and coiled-coil motif containing 6 117.881.432 117.923.705 1201 GORAB golgin, RAB6-interacting 1 170.501.263 170.522.974 1202 GOSR2 golgi SNAP receptor complex member 2 17 45.000.486 45.044.366 1203 GOT1 glutamic-oxaloacetic transaminase 1, soluble 10 101.156.627 101.190.530 1204 GP1BA glycoprotein Ib (platelet), alpha polypeptide 17 4.835.312 4.838.325 1205 GP1BB glycoprotein Ib (platelet), beta polypeptide 22 19.711.066 19.712.297 1206 GP6 glycoprotein VI (platelet) 19 55.525.073 55.549.632 1207 GP9 glycoprotein IX (platelet) 3 128.775.459 128.781.254 1208 GPC3 glypican 3 X 132.669.773 133.119.673 1209 GPC6 glypican 6 13 93.879.078 95.060.274 1210 GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) 12 50.497.602 50.505.103 1211 GPD1L glycerol-3-phosphate dehydrogenase 1-like 3 32.148.003 32.210.207 1212 GPHN gephyrin 14 66.974.125 67.648.525 1213 GPI glucose-6-phosphate isomerase 19 34.855.645 34.893.318 1214 GPR143 G protein-coupled receptor 143 X 9.693.453 9.734.005 1215 GPR179 G protein-coupled receptor 179 17 36.481.493 36.499.693 1216 GPR56 G protein-coupled receptor 56 16 57.653.442 57.698.944 1217 GPR98 G protein-coupled receptor 98 5 89.854.617 90.460.254 1218 GPSM2 G-protein signaling modulator 2 1 109.417.972 109.473.044 1219 GPX1 glutathione peroxidase 1 3 49.394.609 49.395.791 1220 GRHL2 grainyhead-like 2 (Drosophila) 8 102.504.668 102.681.954 1221 GRHL3 grainyhead-like 3 (Drosophila) 1 24.645.812 24.690.972 1222 GRHPR glyoxylate reductase/hydroxypyruvate reductase 9 37.422.693 37.436.990 1223 GRIA1 glutamate receptor, ionotropic, AMPA 1 5 152.870.084 153.193.429 1224 GRIA3 glutamate receptor, ionotropic, AMPA 3 X 122.317.996 122.624.766 1225 GRID1 glutamate receptor, ionotropic, delta 1 10 87.359.312 88.126.250 1226 GRIK2 glutamate receptor, ionotropic, kainate 2 6 101.841.584 102.517.958 1227 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 9 140.033.609 140.063.214 1228 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16 9.847.265 10.276.611 1229 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 12 13.713.684 14.133.022 1230 GRIP1 glutamate receptor interacting protein 1 12 66.741.178 67.463.014 1231 GRK1 G protein-coupled receptor kinase 1 13 114.321.594 114.325.974 1232 GRK1 G protein-coupled receptor kinase 1 13 114.426.046 114.438.637 1233 GRM1 glutamate receptor, metabotropic 1 6 146.286.032 146.758.782 1234 GRM6 glutamate receptor, metabotropic 6 5 178.405.328 178.422.124 1235 GRN granulin 17 42.422.491 42.430.474 1236 GRPR gastrin-releasing peptide receptor X 16.141.424 16.171.641 1237 GRXCR1 glutaredoxin, cysteine rich 1 4 42.895.283 43.032.675 1238 GSC goosecoid homeobox 14 95.234.560 95.236.499 1239 GSN gelsolin 9 124.030.380 124.095.122 1240 GSR glutathione reductase 8 30.535.578 30.585.486 1241 GSS glutathione synthetase 20 33.516.236 33.543.794 1242 GTF2H5 general transcription factor IIH, polypeptide 5 6 158.589.379 158.620.376 1243 GUCA1A guanylate cyclase activator 1A (retina) 6 42.123.144 42.147.794 1244 GUCA1B guanylate cyclase activator 1B (retina) 6 42.151.022 42.162.694 1245 GUCY2C guanylate cyclase 2C 12 14.765.566 14.849.519 1246 GUCY2D guanylate cyclase 2D, membrane (retina-specific) 17 7.905.988 7.923.658 1247 GUSB glucuronidase, beta 7 65.425.671 65.447.301 1248 GYG1 glycogenin 1 3 148.709.195 148.745.456 1249 GYS1 glycogen synthase 1 (muscle) 19 49.471.382 49.496.610 1250 GYS2 glycogen synthase 2 (liver) 12 21.684.461 21.783.722 1251 H19 H19, imprinted maternally expressed transcript (non-protein 11 2.016.406 2.019.065 coding) 1252 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 1 9.294.822 9.331.396 1253 HACD1 3-hydroxyacyl-CoA dehydratase 1 10 17.631.031 17.659.383 1254 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein 6 105.175.968 105.307.794 ligase 1 1255 HADH hydroxyacyl-CoA dehydrogenase 4 108.910.870 108.956.331 1256 HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl- 2 26.413.504 26.467.665 CoA hydratase (trifunctional protein), alpha subunit 1257 HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl- 2 26.467.616 26.513.333 CoA hydratase (trifunctional protein), beta subunit 1258 HAGH hydroxyacylglutathione hydrolase 16 1.859.104 1.877.195 1259 HAMP hepcidin antimicrobial peptide 19 35.773.410 35.776.046 1260 HARS histidyl-tRNA synthetase 5 140.053.490 140.071.681 1261 HARS2 histidyl-tRNA synthetase 2, mitochondrial 5 140.071.011 140.078.903 1262 HAX1 HCLS1 associated protein X-1 1 154.245.039 154.248.351 1263 HBA1 hemoglobin, alpha 1 16 226.679 227.520 1264 HBA2 hemoglobin, alpha 2 16 222.846 223.709 1265 HBB hemoglobin, beta 11 5.246.696 5.248.301 1266 HBD hemoglobin, delta 11 5.254.059 5.255.858 1267 HBE1 hemoglobin, epsilon 1 11 5.289.580 5.291.373 1268 HBEGF heparin-binding EGF-like growth factor 5 139.712.428 139.726.188 1269 HBG1 hemoglobin, gamma A 11 5.269.502 5.271.087 1270 HBG2 hemoglobin, gamma G 11 5.274.421 5.276.011 1271 HBQ1 hemoglobin, theta 1 16 230.333 231.178 1272 HBZ hemoglobin, zeta 16 192.921 204.504 1273 HCCS holocytochrome c synthase X 11.129.406 11.141.206 1274 HCFC1 host cell factor C1 X 153.213.008 153.237.284 1275 HCN4 hyperpolarization activated cyclic nucleotide gated potassium 15 73.612.200 73.661.605 channel 4 1276 HCRT hypocretin (orexin) neuropeptide precursor 17 40.336.078 40.337.470 1277 HDAC4 histone deacetylase 4 2 239.969.864 240.323.346 1278 HDAC6 histone deacetylase 6 X 48.660.086 48.683.408 1279 HDAC8 histone deacetylase 8 X 71.549.366 71.792.953 1280 HEPACAM hepatic and glial cell adhesion molecule 11 124.789.089 124.806.308 1281 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 15 28.356.183 28.567.313 1282 HES7 hes family bHLH transcription factor 7 17 8.023.908 8.027.410 1283 HESX1 HESX homeobox 1 3 57.231.866 57.261.656 1284 HEXA hexosaminidase A (alpha polypeptide) 15 72.635.778 72.669.474 1285 HEXB hexosaminidase B (beta polypeptide) 5 73.935.547 74.017.113 1286 HFE hemochromatosis 6 26.087.422 26.096.438 1287 HFE2 hemochromatosis type 2 (juvenile) 1 145.413.191 145.417.545 1288 HGD homogentisate 1,2-dioxygenase 3 120.347.015 120.401.418 1289 HGF hepatocyte growth factor (hepapoietin A; scatter factor) 7 81.331.444 81.399.452 1290 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 42.995.592 43.057.970 1291 HIBCH 3-hydroxyisobutyryl-CoA hydrolase 2 191.069.355 191.184.771 1292 HINT1 histidine triad nucleotide binding protein 1 5 130.494.976 130.501.041 1293 HIP1 huntingtin interacting protein 1 7 75.162.619 75.368.290 1294 HIRA histone cell cycle regulator 22 19.318.221 19.419.247 1295 HIST1H4B histone cluster 1, H4b 6 26.027.124 26.027.480 1296 HIST3H3 histone cluster 3, H3 1 228.612.546 228.613.026 1297 HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 6 143.072.604 143.267.495 1298 HK1 hexokinase 1 10 71.029.740 71.161.638 1299 HLA-A major histocompatibility complex, class I, A 6 29.910.247 29.913.661 1300 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 6 32.627.241 32.634.466 1301 HLA-DRA major histocompatibility complex, class II, DR alpha 6 32.407.619 32.412.823 1302 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 6 32.546.546 32.557.613 1303 HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase 21 38.123.189 38.362.545 (ATP-hydrolysing)) ligase) 1304 HMBS hydroxymethylbilane synthase 11 118.955.587 118.964.259 1305 HMGA1 high mobility group AT-hook 1 6 34.204.577 34.214.008 1306 HMGA2 high mobility group AT-hook 2 12 66.218.240 66.360.071 1307 HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1 24.128.367 24.165.110 1308 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 1 120.290.619 120.311.555 1309 HMOX1 heme oxygenase (decycling) 1 22 35.777.060 35.790.207 1310 HMX1 H6 family homeobox 1 4 8.847.803 8.873.543 1311 HNF1A HNF1 homeobox A 12 121.415.861 121.440.315 1312 HNF1B HNF1 homeobox B 17 36.046.434 36.105.096 1313 HNF4A hepatocyte nuclear factor 4, alpha 20 42.984.441 43.061.485 1314 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 10 99.344.102 99.372.559 1315 HOXA1 homeobox A1 7 27.132.612 27.135.625 1316 HOXA11 homeobox A11 7 27.220.776 27.224.835 1317 HOXA13 homeobox A13 7 27.236.499 27.239.725 1318 HOXA2 homeobox A2 7 27.139.973 27.142.394 1319 HOXB1 homeobox B1 17 46.606.807 46.608.272 1320 HOXC13 homeobox C13 12 54.332.576 54.340.328 1321 HOXD10 homeobox D10 2 176.981.492 176.984.670 1322 HOXD13 homeobox D13 2 176.957.532 176.960.666 1323 HPD 4-hydroxyphenylpyruvate dioxygenase 12 122.277.433 122.326.517 1324 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) 4 175.411.328 175.444.049 1325 HPRT1 hypoxanthine phosphoribosyltransferase 1 X 133.594.175 133.634.698 1326 HPS1 Hermansky-Pudlak syndrome 1 10 100.175.955 100.206.720 1327 HPS3 Hermansky-Pudlak syndrome 3 3 148.847.371 148.891.305 1328 HPS4 Hermansky-Pudlak syndrome 4 22 26.846.848 26.879.829 1329 HPS5 Hermansky-Pudlak syndrome 5 11 18.300.217 18.343.751 1330 HPS6 Hermansky-Pudlak syndrome 6 10 103.825.124 103.827.795 1331 HPSE2 heparanase 2 (inactive) 10 100.216.834 100.995.632 1332 HR hair growth associated 8 21.971.932 21.988.566 1333 HRAS Harvey rat sarcoma viral oncogene homolog 11 532.242 535.561 1334 HRG histidine-rich glycoprotein 3 186.383.747 186.396.023 1335 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 2 129.023.054 129.076.171 1336 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 1 209.859.525 209.908.295 1337 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 16 67.465.036 67.471.456 1338 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 X 53.458.206 53.461.323 1339 HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 9 98.997.588 99.064.662 1340 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 5 118.788.138 118.878.030 1341 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta- 1 119.957.554 119.965.662 isomerase 2 1342 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta- 16 30.995.949 31.000.473 isomerase 7 1343 HSF4 heat shock transcription factor 4 16 67.197.288 67.203.848 1344 HSPB1 heat shock 27kDa protein 1 7 75.931.875 75.933.614 1345 HSPB3 heat shock 27kDa protein 3 5 53.751.431 53.752.214 1346 HSPB8 heat shock 22kDa protein 8 12 119.616.595 119.632.551 1347 HSPD1 heat shock 60kDa protein 1 (chaperonin) 2 198.351.308 198.364.998 1348 HSPG2 heparan sulfate proteoglycan 2 1 22.148.737 22.263.750 1349 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 5 63.255.875 63.258.119 1350 HTRA1 HtrA serine peptidase 1 10 124.221.041 124.274.424 1351 HTRA2 HtrA serine peptidase 2 2 74.756.532 74.760.683 1352 HTT huntingtin 4 3.076.408 3.245.687 1353 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein X 53.559.057 53.713.697 ligase 1354 HYAL1 hyaluronoglucosaminidase 1 3 50.337.320 50.349.812 1355 HYDIN HYDIN, axonemal central pair apparatus protein 16 70.841.287 71.264.625 1356 HYLS1 hydrolethalus syndrome 1 11 125.753.509 125.770.541 1357 IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) 1 228.353.429 228.369.958 1358 ICAM1 intercellular adhesion molecule 1 19 10.380.707 10.397.291 1359 ICK intestinal cell (MAK-like) kinase 6 52.866.097 52.926.676 1360 ICOS inducible T-cell co-stimulator 2 204.801.454 204.826.302 1361 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 15 90.626.283 90.645.730 1362 IDH3B isocitrate dehydrogenase 3 (NAD+) beta 20 2.639.041 2.644.865 1363 IDS iduronate 2-sulfatase X 148.560.295 148.586.884 1364 IDUA iduronidase, alpha-L- 4 980.785 998.317 1365 IER3IP1 immediate early response 3 interacting protein 1 18 44.681.390 44.702.745 1366 IFITM5 interferon induced transmembrane protein 5 11 298.200 299.526 1367 IFNAR2 interferon (alpha, beta and omega) receptor 2 21 34.602.231 34.636.831 1368 IFNG interferon, gamma 12 68.548.550 68.553.521 1369 IFNGR1 interferon gamma receptor 1 6 137.518.621 137.540.981 1370 IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) 21 34.775.202 34.809.828 1371 IFT122 intraflagellar transport 122 3 129.158.671 129.239.350 1372 IFT140 intraflagellar transport 140 16 1.560.428 1.662.109 1373 IFT172 intraflagellar transport 172 2 27.667.240 27.712.575 1374 IFT43 intraflagellar transport 43 14 76.452.096 76.550.416 1375 IFT80 intraflagellar transport 80 3 159.974.774 160.118.028 1376 IFT88 intraflagellar transport 88 13 21.140.585 21.265.576 1377 IGBP1 immunoglobulin (CD79A) binding protein 1 X 69.353.318 69.386.174 1378 IGF1 insulin-like growth factor 1 (somatomedin C) 12 102.789.645 102.875.563 1379 IGF1R insulin-like growth factor 1 receptor 15 99.192.272 99.507.759 1380 IGF2R insulin-like growth factor 2 receptor 6 160.390.131 160.527.583 1381 IGFBP7 insulin-like growth factor binding protein 7 4 57.897.237 57.976.551 1382 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) 14 106.207.810 106.209.407 1383 IGHM immunoglobulin heavy constant mu 14 106.318.298 106.322.322 1384 IGHMBP2 immunoglobulin mu binding protein 2 11 68.671.319 68.708.070 1385 IGKC immunoglobulin kappa constant 2 89.156.874 89.157.196 1386 IGLL1 immunoglobulin lambda-like polypeptide 1 22 23.915.312 23.922.619 1387 IGSF1 immunoglobulin superfamily, member 1 X 130.407.480 130.423.403 1388 IHH indian hedgehog 2 219.919.142 219.925.238 1389 IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, 9 111.629.800 111.696.608 kinase complex-associated protein 1390 IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, 8 42.128.820 42.190.171 kinase beta 1391 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, X 153.769.419 153.796.804 kinase gamma 1392 IL10RA interleukin 10 receptor, alpha 11 117.857.106 117.872.198 1393 IL10RB interleukin 10 receptor, beta 21 34.638.665 34.669.539 1394 IL11RA interleukin 11 receptor, alpha 9 34.652.182 34.661.899 1395 IL12B interleukin 12B 5 158.741.791 158.757.481 1396 IL12RB1 interleukin 12 receptor, beta 1 19 18.170.371 18.197.806 1397 IL17F interleukin 17F 6 52.101.484 52.109.298 1398 IL17RA interleukin 17 receptor A 22 17.565.849 17.596.584 1399 IL17RD interleukin 17 receptor D 3 57.124.010 57.204.345 1400 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 X 28.605.681 29.974.467 1401 IL1RN interleukin 1 receptor antagonist 2 113.868.693 113.891.593 1402 IL21R interleukin 21 receptor 16 27.413.483 27.463.363 1403 IL2RA interleukin 2 receptor, alpha 10 6.052.657 6.104.333 1404 IL2RB interleukin 2 receptor, beta 22 37.521.878 37.552.414 1405 IL2RG interleukin 2 receptor, gamma X 70.327.254 70.331.481 1406 IL31RA interleukin 31 receptor A 5 55.147.207 55.218.682 1407 IL36RN interleukin 36 receptor antagonist 2 113.816.215 113.822.321 1408 IL3RA interleukin 3 receptor, alpha (low affinity) Y 1.405.488 1.451.582 1409 IL3RA interleukin 3 receptor, alpha (low affinity) X 1.455.488 1.501.582 1410 IL4R interleukin 4 receptor 16 27.325.161 27.376.099 1411 IL7R interleukin 7 receptor 5 35.856.977 35.879.705 1412 ILDR1 immunoglobulin-like domain containing receptor 1 3 121.706.170 121.741.127 1413 IMPAD1 inositol monophosphatase domain containing 1 8 57.870.488 57.906.430 1414 IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 7 128.032.331 128.050.045 1415 IMPG2 interphotoreceptor matrix proteoglycan 2 3 100.941.390 101.039.419 1416 INF2 inverted formin, FH2 and WH2 domain containing 14 105.147.902 105.185.947 1417 ING1 inhibitor of growth family, member 1 13 111.364.970 111.373.421 1418 INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa 2 99.061.321 99.207.496 1419 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 9 139.323.067 139.334.305 1420 INPPL1 inositol polyphosphate phosphatase-like 1 11 71.934.916 71.950.191 1421 INS insulin 11 2.181.009 2.182.439 1422 INSL3 insulin-like 3 (Leydig cell) 19 17.927.322 17.932.383 1423 INSR insulin receptor 19 7.112.266 7.294.011 1424 INVS inversin 9 102.861.467 103.063.908 1425 IQCB1 IQ motif containing B1 3 121.488.608 121.553.926 1426 IQSEC2 IQ motif and Sec7 domain 2 X 53.262.058 53.350.522 1427 IRAK4 interleukin-1 receptor-associated kinase 4 12 44.152.747 44.183.346 1428 IRF1 interferon regulatory factor 1 5 131.817.301 131.826.465 1429 IRF4 interferon regulatory factor 4 6 391.739 411.443 1430 IRF5 interferon regulatory factor 5 7 128.577.976 128.590.089 1431 IRF6 interferon regulatory factor 6 1 209.958.968 209.979.520 1432 IRF8 interferon regulatory factor 8 16 85.932.774 85.956.212 1433 IRGM immunity-related GTPase family, M 5 150.226.085 150.228.231 1434 IRX5 iroquois homeobox 5 16 54.965.111 54.968.397 1435 ISCU iron-sulfur cluster assembly enzyme 12 108.955.239 108.963.160 1436 ISPD isoprenoid synthase domain containing 7 16.127.152 16.460.947 1437 ITCH itchy E3 ubiquitin protein ligase 20 32.951.041 33.099.198 1438 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 5 52.285.156 52.390.609 1439 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, 17 42.449.550 42.466.873 antigen CD41) 1440 ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 17 48.133.340 48.167.849 receptor) 1441 ITGA6 integrin, alpha 6 2 173.291.954 173.371.181 1442 ITGA7 integrin, alpha 7 12 56.078.352 56.109.821 1443 ITGA8 integrin, alpha 8 10 15.557.711 15.762.328 1444 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 16 31.271.288 31.344.213 1445 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 21 46.305.864 46.348.753 subunit) 1446 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 17 45.331.208 45.390.077 1447 ITGB4 integrin, beta 4 17 73.717.516 73.753.899 1448 ITK IL2-inducible T-cell kinase 5 156.607.907 156.682.109 1449 ITM2B integral membrane protein 2B 13 48.807.274 48.836.232 1450 ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 3 4.535.032 4.889.524 1451 IVD isovaleryl-CoA dehydrogenase 15 40.697.686 40.728.146 1452 IYD iodotyrosine deiodinase 6 150.689.987 150.725.765 1453 JAG1 jagged 1 20 10.618.332 10.654.694 1454 JAK2 Janus kinase 2 9 4.985.245 5.129.948 1455 JAK3 Janus kinase 3 19 17.935.591 17.958.880 1456 JAM3 junctional adhesion molecule 3 11 133.938.820 134.021.652 1457 JPH2 junctophilin 2 20 42.740.337 42.816.218 1458 JPH3 junctophilin 3 16 87.635.441 87.731.762 1459 JUP junction plakoglobin 17 39.910.859 39.942.964 1460 KAL1 Kallmann syndrome 1 sequence X 8.496.915 8.700.227 1461 KANK1 KN motif and ankyrin repeat domains 1 9 470.294 746.106 1462 KANSL1 KAT8 regulatory NSL complex subunit 1 17 44.107.282 44.302.740 1463 KARS lysyl-tRNA synthetase 16 75.661.622 75.681.585 1464 KAT6B K(lysine) acetyltransferase 6B 10 76.584.685 76.792.380 1465 KBTBD13 kelch repeat and BTB (POZ) domain containing 13 15 65.369.154 65.372.276 1466 KCNA1 potassium channel, voltage gated shaker related subfamily A, 12 5.019.073 5.027.422 member 1 1467 KCNA5 potassium channel, voltage gated shaker related subfamily A, 12 5.153.085 5.155.954 member 5 1468 KCNC3 potassium channel, voltage gated Shaw related subfamily C, 19 50.818.765 50.832.634 member 3 1469 KCND3 potassium channel, voltage gated Shal related subfamily D, 1 112.318.444 112.532.147 member 3 1470 KCNE1 potassium channel, voltage gated subfamily E regulatory beta 21 35.790.910 35.884.573 subunit 1 1471 KCNE2 potassium channel, voltage gated subfamily E regulatory beta 21 35.736.323 35.743.440 subunit 2 1472 KCNE3 potassium channel, voltage gated subfamily E regulatory beta 11 74.165.886 74.178.600 subunit 3 1473 KCNE5 potassium channel, voltage gated subfamily E regulatory beta X 108.866.929 108.868.393 subunit 5 1474 KCNH2 potassium channel, voltage gated eag related subfamily H, 7 150.642.044 150.675.402 member 2 1475 KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 11 128.707.909 128.737.268 1476 KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 1 160.007.257 160.040.051 1477 KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 11 17.406.795 17.410.878 1478 KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 2 233.630.512 233.641.275 1479 KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 17 68.164.757 68.176.189 1480 KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5 11 128.761.313 128.791.060 1481 KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8 12 21.917.889 21.928.436 1482 KCNK9 potassium channel, two pore domain subfamily K, member 9 8 140.613.081 140.715.299 1483 KCNMA1 potassium channel, calcium activated large conductance subfamily 10 78.629.359 79.397.577 M alpha, member 1 1484 KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 11 2.466.221 2.870.340

1485 KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein 11 2.629.558 2.721.228 coding) 1486 KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 20 62.031.561 62.103.993

1487 KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 8 133.133.105 133.493.004

1488 KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4 1 41.249.684 41.306.124

1489 KCNT1 potassium channel, sodium activated subfamily T, member 1 9 138.594.031 138.684.993 1490 KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 9 2.717.526 2.730.037

1491 KCTD1 potassium channel tetramerization domain containing 1 18 24.034.874 24.237.365 1492 KCTD7 potassium channel tetramerization domain containing 7 7 66.093.868 66.113.964 1493 KDM5A lysine (K)-specific demethylase 5A 12 389.223 498.620 1494 KDM5C lysine (K)-specific demethylase 5C X 53.220.503 53.254.604 1495 KDM5D lysine (K)-specific demethylase 5D Y 21.867.301 21.906.825 1496 KDM6A lysine (K)-specific demethylase 6A X 44.732.419 44.972.024 1497 KDM6B lysine (K)-specific demethylase 6B 17 7.737.521 7.758.118 1498 KDM7A lysine (K)-specific demethylase 7A 7 139.784.546 139.876.741 1499 KDR kinase insert domain receptor 4 55.944.426 55.991.762 1500 KERA keratocan 12 91.444.268 91.452.131 1501 KHDC3L KH domain containing 3-like, subcortical maternal complex 6 74.072.400 74.073.898 member 1502 KIAA0196 KIAA0196 8 126.036.502 126.104.061 1503 KIAA0319L KIAA0319-like 1 35.899.091 36.023.037 1504 KIAA1279 KIAA1279 10 70.748.477 70.776.739 1505 KIAA2022 KIAA2022 X 73.952.691 74.145.287 1506 KIF11 kinesin family member 11 10 94.352.825 94.415.152 1507 KIF1A kinesin family member 1A 2 241.653.181 241.759.725 1508 KIF1B kinesin family member 1B 1 10.270.606 10.441.664 1509 KIF1C kinesin family member 1C 17 4.901.243 4.931.694 1510 KIF21A kinesin family member 21A 12 39.687.030 39.837.192 1511 KIF22 kinesin family member 22 16 29.801.383 29.816.706 1512 KIF2A kinesin heavy chain member 2A 5 61.601.989 61.683.011 1513 KIF4A kinesin family member 4A X 69.509.879 69.640.774 1514 KIF5A kinesin family member 5A 12 57.943.812 57.980.416 1515 KIF5C kinesin family member 5C 2 149.632.792 149.686.924 1516 KIF5C kinesin family member 5C 2 149.793.796 149.883.273 1517 KIF7 kinesin family member 7 15 90.171.201 90.198.725 1518 KIRREL3 kin of IRRE like 3 (Drosophila) 11 126.293.388 126.870.766 1519 KISS1 KiSS-1 metastasis-suppressor 1 204.159.469 204.165.619 1520 KISS1R KISS1 receptor 19 917.342 921.015 1521 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 4 55.524.095 55.606.881

1522 KITLG KIT ligand 12 88.886.570 88.974.250 1523 KL klotho 13 33.590.571 33.640.282 1524 KLF1 Kruppel-like factor 1 (erythroid) 19 12.995.236 12.998.017 1525 KLF11 Kruppel-like factor 11 2 10.170.776 10.194.963 1526 KLF6 Kruppel-like factor 6 10 3.818.188 3.827.473 1527 KLHDC8B kelch domain containing 8B 3 49.208.987 49.213.919 1528 KLHL10 kelch-like family member 10 17 39.992.572 40.004.599 1529 KLHL15 kelch-like family member 15 X 24.001.833 24.045.303 1530 KLHL3 kelch-like family member 3 5 136.953.189 137.150.310 1531 KLHL41 kelch-like family member 41 2 170.366.212 170.382.772 1532 KLHL7 kelch-like family member 7 7 23.145.353 23.215.040 1533 KLK4 kallikrein-related peptidase 4 19 51.409.608 51.413.994 1534 KLKB1 kallikrein B, plasma (Fletcher factor) 1 4 187.148.502 187.179.625 1535 KLLN killin, p53-regulated DNA replication inhibitor 10 89.618.918 89.623.194 1536 KMT2A lysine (K)-specific methyltransferase 2A 11 118.307.205 118.397.539 1537 KMT2B lysine (K)-specific methyltransferase 2B 19 36.208.921 36.229.781 1538 KMT2D lysine (K)-specific methyltransferase 2D 12 49.412.758 49.453.935 1539 KPTN kaptin (actin binding protein) 19 47.978.398 47.987.521 1540 KRAS Kirsten rat sarcoma viral oncogene homolog 12 25.358.180 25.403.870 1541 KRIT1 KRIT1, ankyrin repeat containing 7 91.828.283 91.875.414 1542 KRT1 keratin 1, type II 12 53.068.520 53.074.191 1543 KRT10 keratin 10, type I 17 38.974.369 38.978.863 1544 KRT12 keratin 12, type I 17 39.017.430 39.023.462 1545 KRT13 keratin 13, type I 17 39.657.233 39.661.865 1546 KRT14 keratin 14, type I 17 39.738.531 39.743.147 1547 KRT16 keratin 16, type I 17 39.766.030 39.769.079 1548 KRT17 keratin 17, type I 17 39.775.692 39.780.882 1549 KRT18 keratin 18, type I 12 53.342.655 53.346.690 1550 KRT2 keratin 2, type II 12 53.038.342 53.045.959 1551 KRT3 keratin 3, type II 12 53.183.469 53.189.892 1552 KRT4 keratin 4, type II 12 53.200.327 53.207.900 1553 KRT5 keratin 5, type II 12 52.908.359 52.914.328 1554 KRT6A keratin 6A, type II 12 52.880.958 52.887.181 1555 KRT6B keratin 6B, type II 12 52.840.435 52.845.910 1556 KRT71 keratin 71, type II 12 52.937.693 52.946.931 1557 KRT74 keratin 74, type II 12 52.959.603 52.967.609 1558 KRT8 keratin 8, type II 12 53.290.971 53.343.650 1559 KRT81 keratin 81, type II 12 52.679.697 52.685.299 1560 KRT83 keratin 83, type II 12 52.708.085 52.715.182 1561 KRT85 keratin 85, type II 12 52.753.790 52.761.309 1562 KRT86 keratin 86, type II 12 52.642.892 52.702.947 1563 KRT9 keratin 9, type I 17 39.722.093 39.728.310 1564 L1CAM L1 cell adhesion molecule X 153.126.969 153.151.628 1565 L2HGDH L-2-hydroxyglutarate dehydrogenase 14 50.704.285 50.778.947 1566 LAMA1 laminin, alpha 1 18 6.941.743 7.117.813 1567 LAMA2 laminin, alpha 2 6 129.204.286 129.837.711 1568 LAMA3 laminin, alpha 3 18 21.269.562 21.535.030 1569 LAMA4 laminin, alpha 4 6 112.429.134 112.575.924 1570 LAMB1 laminin, beta 1 7 107.564.244 107.643.804 1571 LAMB2 laminin, beta 2 (laminin S) 3 49.158.547 49.170.599 1572 LAMB3 laminin, beta 3 1 209.788.215 209.825.820 1573 LAMC2 laminin, gamma 2 1 183.147.952 183.214.262 1574 LAMC3 laminin, gamma 3 9 133.884.504 133.968.446 1575 LAMP2 lysosomal-associated membrane protein 2 X 119.560.003 119.603.204 1576 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 1 156.024.517 156.028.301

1577 LARGE like-glycosyltransferase 22 33.668.509 34.316.464 1578 LARP7 La ribonucleoprotein domain family, member 7 4 113.558.120 113.578.748 1579 LARS2 leucyl-tRNA synthetase 2, mitochondrial 3 45.430.053 45.590.334 1580 LAS1L LAS1-like (S. cerevisiae) X 64.732.462 64.754.686 1581 LBR lamin B receptor 1 225.589.204 225.616.557 1582 LCA5 Leber congenital amaurosis 5 6 80.194.708 80.247.147 1583 LCAT lecithin-cholesterol acyltransferase 16 67.973.787 67.978.656 1584 LCT lactase 2 136.545.415 136.594.750 1585 LDB3 LIM domain binding 3 10 88.426.542 88.495.829 1586 LDHA lactate dehydrogenase A 11 18.415.936 18.429.765 1587 LDHB lactate dehydrogenase B 12 21.788.275 21.810.789 1588 LDLR low density lipoprotein receptor 19 11.200.037 11.244.506 1589 LDLRAP1 low density lipoprotein receptor adaptor protein 1 1 25.870.071 25.895.377 1590 LEMD3 LEM domain containing 3 12 65.563.351 65.642.141 1591 LEP leptin 7 127.881.241 127.897.682 1592 LEPR leptin receptor 1 65.886.335 66.103.176 1593 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 7 2.552.163 2.568.811 1594 LGI1 leucine-rich, glioma inactivated 1 10 95.517.566 95.557.916 1595 LHB luteinizing hormone beta polypeptide 19 49.519.237 49.520.350 1596 LHCGR luteinizing hormone/choriogonadotropin receptor 2 48.913.913 48.982.880 1597 LHFPL5 lipoma HMGIC fusion partner-like 5 6 35.773.071 35.791.852 1598 LHX3 LIM homeobox 3 9 139.088.096 139.096.955 1599 LHX4 LIM homeobox 4 1 180.199.433 180.244.188 1600 LIAS lipoic acid synthetase 4 39.460.644 39.479.273 1601 LIFR leukemia inhibitory factor receptor alpha 5 38.475.065 38.595.507 1602 LIG4 ligase IV, DNA, ATP-dependent 13 108.859.790 108.870.716 1603 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and 19 54.777.675 54.785.033 ITIM domains), member 2 1604 LIN28B lin-28 homolog B (C. elegans) 6 105.384.874 105.531.207 1605 LIPA lipase A, lysosomal acid, cholesterol esterase 10 90.973.326 91.011.660 1606 LIPC lipase, hepatic 15 58.702.953 58.861.073 1607 LIPH lipase, member H 3 185.225.570 185.270.369 1608 LIPN lipase, family member N 10 90.519.786 90.538.648 1609 LITAF lipopolysaccharide-induced TNF factor 16 11.641.578 11.681.322 1610 LMAN1 lectin, mannose-binding, 1 18 56.995.055 57.026.508 1611 LMBR1 limb development membrane protein 1 7 156.470.537 156.685.902 1612 LMBRD1 LMBR1 domain containing 1 6 70.385.641 70.507.049 1613 LMF1 lipase maturation factor 1 16 903.634 1.031.318 1614 LMNA lamin A/C 1 156.052.369 156.109.880 1615 LMNB1 lamin B1 5 126.112.315 126.172.712 1616 LMX1B LIM homeobox transcription factor 1, beta 9 129.376.722 129.463.311 1617 LOR loricrin 1 153.232.179 153.234.600 1618 LOXHD1 lipoxygenase homology domains 1 18 44.056.935 44.236.996 1619 LPA lipoprotein, Lp(a) 6 160.952.506 161.097.478 1620 LPAR6 lysophosphatidic acid receptor 6 13 48.985.181 49.018.840 1621 LPIN1 lipin 1 2 11.817.705 11.967.535 1622 LPIN2 lipin 2 18 2.916.992 3.013.313 1623 LPL lipoprotein lipase 8 19.796.582 19.824.770 1624 LPP LIM domain containing preferred translocation partner in lipoma 3 187.871.097 188.608.460

1625 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O- 4 155.665.163 155.674.270 acyltransferase) 1626 LRBA LPS-responsive vesicle trafficking, beach and anchor containing 4 151.185.811 151.936.879 1627 LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 1 113.615.792 113.667.824 1628 LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane 4 110.769.340 110.793.471 domains 3 1629 LRP1 low density lipoprotein receptor-related protein 1 12 57.522.282 57.607.142 1630 LRP2 low density lipoprotein receptor-related protein 2 2 169.983.619 170.219.123 1631 LRP4 low density lipoprotein receptor-related protein 4 11 46.878.268 46.940.173 1632 LRP5 low density lipoprotein receptor-related protein 5 11 68.080.077 68.216.743 1633 LRPPRC leucine-rich pentatricopeptide repeat containing 2 44.113.363 44.223.144 1634 LRRC6 leucine rich repeat containing 6 8 133.584.201 133.687.863 1635 LRRC8A leucine rich repeat containing 8 family, member A 9 131.644.391 131.680.318 1636 LRRK2 leucine-rich repeat kinase 2 12 40.618.813 40.763.087 1637 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 9 130.213.765 130.265.780 1638 LRTOMT leucine rich transmembrane and O-methyltransferase domain 11 71.791.377 71.821.828 containing 1639 LTBP2 latent transforming growth factor beta binding protein 2 14 74.964.886 75.079.034 1640 LTBP3 latent transforming growth factor beta binding protein 3 11 65.306.030 65.325.858 1641 LTBP4 latent transforming growth factor beta binding protein 4 19 41.099.072 41.135.725 1642 LTC4S leukotriene C4 synthase 5 179.219.263 179.223.616 1643 LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1 19 13.208.002 13.213.974 1644 LYRM4 LYR motif containing 4 6 5.047.395 5.261.172 1645 LYST lysosomal trafficking regulator 1 235.824.331 236.047.008 1646 LYZ lysozyme 12 69.742.134 69.748.013 1647 LZTFL1 leucine zipper transcription factor-like 1 3 45.864.808 45.957.216 1648 LZTS1 leucine zipper, putative tumor suppressor 1 8 20.103.676 20.161.492 1649 MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) 7 1.855.428 2.272.583 1650 MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 16 79.627.745 79.634.622

1651 MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 20 39.314.488 39.317.880 B 1652 MAGEL2 melanoma antigen family L2 15 23.888.696 23.892.993 1653 MAGT1 magnesium transporter 1 X 77.081.861 77.151.090 1654 MAK male germ cell-associated kinase 6 10.762.956 10.838.788 1655 MALT1 MALT1 paracaspase 18 56.338.618 56.417.371 1656 MAMLD1 mastermind-like domain containing 1 X 149.529.836 149.682.448 1657 MAN1B1 mannosidase, alpha, class 1B, member 1 9 139.981.379 140.003.639 1658 MAN2B1 mannosidase, alpha, class 2B, member 1 19 12.757.322 12.777.591 1659 MANBA mannosidase, beta A, lysosomal 4 103.552.643 103.682.151 1660 MAOA monoamine oxidase A X 43.514.155 43.606.071 1661 MAOB monoamine oxidase B X 43.625.857 43.741.721 1662 MAP2K1 mitogen-activated protein kinase kinase 1 15 66.679.182 66.783.882 1663 MAP2K2 mitogen-activated protein kinase kinase 2 19 4.090.319 4.124.126 1664 MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin 5 56.110.900 56.191.979 protein ligase 1665 MAP3K8 mitogen-activated protein kinase kinase kinase 8 10 30.722.950 30.750.762 1666 MAPK1 mitogen-activated protein kinase 1 22 22.113.946 22.221.970 1667 MAPK10 mitogen-activated protein kinase 10 4 86.933.452 87.374.283 1668 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 16 1.756.184 1.820.318 1669 MAPT microtubule-associated protein tau 17 43.971.702 44.105.700 1670 MARS2 methionyl-tRNA synthetase 2, mitochondrial 2 198.570.028 198.573.114 1671 MARVELD2 MARVEL domain containing 2 5 68.710.939 68.738.701 1672 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating 3 186.933.873 187.009.810 component of Ra-reactive factor) 1673 MASP2 mannan-binding lectin serine peptidase 2 1 11.086.580 11.107.296 1674 MASTL microtubule associated serine/threonine kinase-like 10 27.443.753 27.475.848 1675 MAT1A methionine adenosyltransferase I, alpha 10 82.031.576 82.049.721 1676 MATN3 matrilin 3 2 20.191.813 20.212.455 1677 MATR3 matrin 3 5 138.609.441 138.667.366 1678 MBD5 methyl-CpG binding domain protein 5 2 148.778.580 149.271.046 1679 MBTPS2 membrane-bound transcription factor peptidase, site 2 X 21.857.656 21.916.427 1680 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone 16 89.984.287 89.987.385 receptor) 1681 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) 18 13.882.043 13.915.535 1682 MC4R melanocortin 4 receptor 18 58.038.564 58.040.001 1683 MCC mutated in colorectal cancers 5 112.357.796 112.824.527 1684 MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) 3 182.733.006 182.817.373 1685 MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) 5 70.883.115 70.954.533 1686 MCEE methylmalonyl CoA epimerase 2 71.336.806 71.357.394 1687 MCF2 MCF.2 cell line derived transforming sequence X 138.663.930 138.790.381 1688 MCFD2 multiple coagulation factor deficiency 2 2 47.129.009 47.168.994 1689 MCM4 minichromosome maintenance complex component 4 8 48.872.763 48.890.720 1690 MCM6 minichromosome maintenance complex component 6 2 136.597.196 136.634.047 1691 MCOLN1 mucolipin 1 19 7.587.496 7.598.895 1692 MCPH1 microcephalin 1 8 6.264.113 6.501.140 1693 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 12 69.201.952 69.239.324 1694 MECP2 methyl CpG binding protein 2 X 153.287.025 153.363.188 1695 MED12 mediator complex subunit 12 X 70.338.406 70.362.304 1696 MED13L mediator complex subunit 13-like 12 116.396.381 116.714.991 1697 MED17 mediator complex subunit 17 11 93.517.405 93.546.496 1698 MED23 mediator complex subunit 23 6 131.895.106 131.949.379 1699 MED25 mediator complex subunit 25 19 50.321.319 50.340.237 1700 MEF2C myocyte enhancer factor 2C 5 88.014.058 88.199.922 1701 MEFV Mediterranean fever 16 3.292.028 3.306.648 1702 MEGF10 multiple EGF-like-domains 10 5 126.565.206 126.796.914 1703 MEGF8 multiple EGF-like-domains 8 19 42.829.730 42.882.921 1704 MEN1 multiple endocrine neoplasia I 11 64.570.986 64.578.766 1705 MEOX1 mesenchyme homeobox 1 17 41.717.757 41.739.262 1706 MERTK MER proto-oncogene, tyrosine kinase 2 112.656.056 112.797.293 1707 MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2 15 90.319.589 90.321.985 1708 MET MET proto-oncogene, receptor tyrosine kinase 7 116.312.406 116.438.440 1709 MFN2 mitofusin 2 1 12.040.238 12.073.572 1710 MFRP membrane frizzled-related protein 11 119.209.644 119.217.383 1711 MFSD8 major facilitator superfamily domain containing 8 4 128.838.960 128.887.185 1712 MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N- 14 50.087.460 50.090.199 acetylglucosaminyltransferase 1713 MGME1 mitochondrial genome maintenance exonuclease 1 20 17.949.534 17.971.765 1714 MGP matrix Gla protein 12 15.034.115 15.038.853 1715 MIB1 mindbomb E3 ubiquitin protein ligase 1 18 19.321.290 19.450.918 1716 MID1 midline 1 X 10.413.350 10.851.829 1717 MID2 midline 2 X 107.068.889 107.174.867 1718 MIF macrophage migration inhibitory factor (glycosylation-inhibiting 22 24.236.565 24.237.409 factor) 1719 MINPP1 multiple inositol-polyphosphate phosphatase 1 10 89.264.223 89.313.218 1720 MIPOL1 mirror-image polydactyly 1 14 37.667.118 38.020.464 1721 MIR17HG miR-17-92 cluster host gene 13 92.000.074 92.006.829 1722 MIR184 microRNA 184 15 79.502.130 79.502.213 1723 MIR96 microRNA 96 7 129.414.532 129.414.609 1724 MITF microphthalmia-associated transcription factor 3 69.788.586 70.017.488 1725 MKKS McKusick-Kaufman syndrome 20 10.385.428 10.414.887 1726 MKRN3 makorin ring finger protein 3 15 23.810.454 23.820.764 1727 MKS1 Meckel syndrome, type 1 17 56.282.797 56.296.966 1728 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 22 50.497.820 50.524.358 1729 MLF1 myeloid leukemia factor 1 3 158.288.953 158.324.249 1730 MLH1 mutL homolog 1 3 37.034.841 37.092.337 1731 MLH3 mutL homolog 3 14 75.480.467 75.518.235 1732 MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, 19 6.210.392 6.279.959 Drosophila); translocated to, 1 1733 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, 10 21.813.540 22.032.559 Drosophila); translocated to, 10 1734 MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, 9 20.341.663 20.622.514 Drosophila); translocated to, 3 1735 MLPH melanophilin 2 238.395.053 238.463.961 1736 MLYCD malonyl-CoA decarboxylase 16 83.932.720 83.962.428 1737 MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 4 146.540.540 146.581.187 1738 MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 12 109.991.520 110.011.358 1739 MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with 1 45.965.856 45.976.739 homocystinuria 1740 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with 2 150.426.147 150.444.330 homocystinuria 1741 MMP1 matrix metallopeptidase 1 11 102.660.641 102.668.966 1742 MMP13 matrix metallopeptidase 13 11 102.813.721 102.826.463 1743 MMP14 matrix metallopeptidase 14 (membrane-inserted) 14 23.305.742 23.316.809 1744 MMP2 matrix metallopeptidase 2 16 55.513.081 55.540.586 1745 MMP20 matrix metallopeptidase 20 11 102.447.566 102.496.063 1746 MMP9 matrix metallopeptidase 9 20 44.637.547 44.645.200 1747 MN1 meningioma (disrupted in balanced translocation) 1 22 28.144.265 28.197.486 1748 MNX1 motor neuron and pancreas homeobox 1 7 156.797.547 156.803.347 1749 MOCS1 molybdenum cofactor synthesis 1 6 39.872.034 39.902.290 1750 MOCS2 molybdenum cofactor synthesis 2 5 52.391.509 52.405.602 1751 MOG myelin oligodendrocyte glycoprotein 6 29.624.758 29.640.149 1752 MOGS mannosyl-oligosaccharide glucosidase 2 74.688.184 74.692.537 1753 MPC1 mitochondrial pyruvate carrier 1 6 166.778.407 166.796.501 1754 MPDU1 mannose-P-dolichol utilization defect 1 17 7.486.965 7.491.530 1755 MPDZ multiple PDZ domain protein 9 13.105.700 13.279.660 1756 MPI mannose phosphate isomerase 15 75.182.377 75.190.581 1757 MPL MPL proto-oncogene, thrombopoietin receptor 1 43.803.475 43.820.135 1758 MPLKIP M-phase specific PLK1 interacting protein 7 40.172.342 40.174.251 1759 MPO myeloperoxidase 17 56.347.217 56.358.296 1760 MPV17 MpV17 mitochondrial inner membrane protein 2 27.532.360 27.545.969 1761 MPZ myelin protein zero 1 161.274.525 161.279.762 1762 MRAP melanocortin 2 receptor accessory protein 21 33.664.124 33.687.095 1763 MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 11 94.150.466 94.227.040 1764 MRPL3 mitochondrial ribosomal protein L3 3 131.181.045 131.221.860 1765 MRPL44 mitochondrial ribosomal protein L44 2 224.822.121 224.832.431 1766 MRPS16 mitochondrial ribosomal protein S16 10 75.008.601 75.012.451 1767 MRPS22 mitochondrial ribosomal protein S22 3 139.062.861 139.075.888 1768 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 11 60.223.251 60.238.225 1769 MSH2 mutS homolog 2 2 47.630.206 47.739.716 1770 MSH6 mutS homolog 6 2 48.010.221 48.034.092 1771 MSR1 macrophage scavenger receptor 1 8 15.965.387 16.050.300 1772 MSRB3 methionine sulfoxide reductase B3 12 65.672.423 65.860.687 1773 MSTN myostatin 2 190.920.426 190.927.455 1774 MSX1 msh homeobox 1 4 4.861.392 4.865.663 1775 MSX2 msh homeobox 2 5 174.151.575 174.157.902 1776 MTAP methylthioadenosine phosphorylase 9 21.802.635 21.941.040 1777 MTF1 metal-regulatory transcription factor 1 1 38.275.239 38.325.292 1778 MTFMT mitochondrial methionyl-tRNA formyltransferase 15 65.293.850 65.321.977 1779 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 11.845.787 11.866.160 1780 MTM1 myotubularin 1 X 149.731.104 149.841.616 1781 MTMR2 myotubularin related protein 2 11 95.566.044 95.657.371 1782 MTO1 mitochondrial tRNA translation optimization 1 6 74.171.454 74.211.179 1783 MTPAP mitochondrial poly(A) polymerase 10 30.598.730 30.638.267 1784 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1 236.958.581 237.067.281 1785 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase 5 7.851.299 7.901.237 reductase 1786 MTTP microsomal triglyceride transfer protein 4 100.485.240 100.545.154 1787 MUC1 mucin 1, cell surface associated 1 155.158.300 155.162.768 1788 MUSK muscle, skeletal, receptor tyrosine kinase 9 113.430.935 113.566.386 1789 MUT methylmalonyl CoA mutase 6 49.398.073 49.431.041 1790 MUTYH mutY homolog 1 45.794.914 45.806.142 1791 MVK mevalonate kinase 12 110.011.500 110.035.071 1792 MYB v-myb avian myeloblastosis viral oncogene homolog 6 135.502.453 135.540.311 1793 MYBPC1 myosin binding protein C, slow type 12 101.988.709 102.079.658 1794 MYBPC3 myosin binding protein C, cardiac 11 47.352.957 47.374.253 1795 MYC v-myc avian myelocytomatosis viral oncogene homolog 8 128.748.315 128.753.680 1796 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma 2 16.080.683 16.087.129 derived homolog 1797 MYD88 myeloid differentiation primary response 88 3 38.179.969 38.184.513 1798 MYF6 myogenic factor 6 (herculin) 12 81.101.408 81.103.257 1799 MYH11 myosin, heavy chain 11, smooth muscle 16 15.796.992 15.950.887 1800 MYH14 myosin, heavy chain 14, non-muscle 19 50.706.885 50.813.801 1801 MYH2 myosin, heavy chain 2, skeletal muscle, adult 17 10.424.465 10.453.017 1802 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic 17 10.531.843 10.560.626 1803 MYH6 myosin, heavy chain 6, cardiac muscle, alpha 14 23.849.942 23.878.836 1804 MYH7 myosin, heavy chain 7, cardiac muscle, beta 14 23.881.947 23.904.870 1805 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal 17 10.293.642 10.325.267 1806 MYH9 myosin, heavy chain 9, non-muscle 22 36.677.323 36.784.107 1807 MYL2 myosin, light chain 2, regulatory, cardiac, slow 12 111.348.623 111.358.404 1808 MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 3 46.899.357 46.904.973 1809 MYLK myosin light chain kinase 3 123.331.143 123.603.149 1810 MYLK2 myosin light chain kinase 2 20 30.407.115 30.422.500 1811 MYO15A myosin XVA 17 18.012.020 18.083.116 1812 MYO1A myosin IA 12 57.422.301 57.444.549 1813 MYO1E myosin IE 15 59.428.168 59.665.071 1814 MYO3A myosin IIIA 10 26.223.002 26.501.465 1815 MYO5A myosin VA (heavy chain 12, myoxin) 15 52.599.480 52.821.247 1816 MYO5B myosin VB 18 47.349.156 47.721.542 1817 MYO6 myosin VI 6 76.458.893 76.629.254 1818 MYO7A myosin VIIA 11 76.839.302 76.926.286 1819 MYOC myocilin, trabecular meshwork inducible glucocorticoid response 1 171.604.557 171.621.773

1820 MYOT myotilin 5 137.203.536 137.223.540 1821 MYOZ2 myozenin 2 4 120.056.939 120.108.944 1822 MYPN myopalladin 10 69.865.874 69.971.774 1823 MYT1L myelin transcription factor 1-like 2 1.792.885 2.335.147 1824 NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit X 153.195.280 153.200.607 1825 NAGA N-acetylgalactosaminidase, alpha- 22 42.454.338 42.466.852 1826 NAGLU N-acetylglucosaminidase, alpha 17 40.687.951 40.696.467 1827 NAGS N-acetylglutamate synthase 17 42.082.032 42.086.436 1828 NALCN sodium leak channel, non selective 13 101.706.130 102.068.813 1829 NANOS1 nanos homolog 1 (Drosophila) 10 120.789.228 120.793.854 1830 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) 8 18.027.971 18.081.198 1831 NAT8L N-acetyltransferase 8-like (GCN5-related, putative) 4 2.061.239 2.070.816 1832 NBAS neuroblastoma amplified sequence 2 15.307.032 15.701.472 1833 NBEAL2 neurobeachin-like 2 3 47.021.173 47.051.194 1834 NBN nibrin 8 90.945.564 90.996.952 1835 NCF1 neutrophil cytosolic factor 1 7 74.188.309 74.203.720 1836 NCF2 neutrophil cytosolic factor 2 1 183.524.697 183.560.056 1837 NCF4 neutrophil cytosolic factor 4, 40kDa 22 37.257.030 37.274.059 1838 NCOA4 nuclear receptor coactivator 4 10 51.565.108 51.590.734 1839 NCSTN nicastrin 1 160.313.063 160.328.742 1840 NDE1 nudE neurodevelopment protein 1 16 15.737.124 15.820.210 1841 NDN necdin, melanoma antigen (MAGE) family member 15 23.930.554 23.932.450 1842 NDP Norrie disease (pseudoglioma) X 43.808.022 43.832.921 1843 NDRG1 N-myc downstream regulated 1 8 134.249.414 134.309.835 1844 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 5 149.865.365 149.937.773 1845 NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa X 119.005.734 119.010.629

1846 NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 2 240.896.789 240.964.819 42kDa 1847 NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 19 5.891.287 5.904.024 14.7kDa 1848 NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 12 95.365.104 95.397.489 1849 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa 5 140.024.948 140.027.370 1850 NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 12 4.758.264 4.796.720

1851 NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 15 41.679.547 41.694.658 1852 NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 5 60.240.956 60.448.864 1853 NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 3 49.057.908 49.060.928 1854 NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 6 97.337.187 97.345.767 1855 NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 20 13.765.672 13.799.067 1856 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 8 96.037.209 96.115.685 1857 NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa 2 201.936.462 201.950.473 1858 NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 8 125.551.343 125.580.751 1859 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH- 2 206.987.803 207.024.243 coenzyme Q reductase) 1860 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH- 1 161.167.209 161.184.185 coenzyme Q reductase) 1861 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH- 11 47.600.562 47.606.115 coenzyme Q reductase) 1862 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH- 5 52.856.464 52.979.171 coenzyme Q reductase) 1863 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH- 5 1.801.496 1.816.165 coenzyme Q reductase) 1864 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH- 19 1.383.526 1.395.588 coenzyme Q reductase) 1865 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH- 11 67.798.084 67.804.114 coenzyme Q reductase) 1866 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 11 67.374.323 67.380.012 1867 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 18 9.102.628 9.134.343 1868 NEB nebulin 2 152.341.853 152.591.001 1869 NECAB2 N-terminal EF-hand calcium binding protein 2 16 84.002.237 84.036.379 1870 NEFL neurofilament, light polypeptide 8 24.808.468 24.814.383 1871 NEK1 NIMA-related kinase 1 4 170.314.421 170.533.778 1872 NEK2 NIMA-related kinase 2 1 211.831.598 211.848.972 1873 NEK8 NIMA-related kinase 8 17 27.055.822 27.069.784 1874 NELFA negative elongation factor complex member A 4 1.984.441 2.010.962 1875 NEU1 sialidase 1 (lysosomal sialidase) 6 31.826.829 31.830.709 1876 NEUROD1 neuronal differentiation 1 2 182.540.833 182.545.392 1877 NEUROG3 neurogenin 3 10 71.331.791 71.333.210 1878 NEXN nexilin (F actin binding protein) 1 78.354.200 78.412.009 1879 NF1 neurofibromin 1 17 29.421.945 29.704.695 1880 NF2 neurofibromin 2 (merlin) 22 29.999.545 30.094.589 1881 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19 13.106.584 13.209.610 1882 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 10 104.153.867 104.162.286 2 (p49/p100) 1883 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells 14 35.870.716 35.873.960 inhibitor, alpha 1884 NFU1 NFU1 iron-sulfur cluster scaffold 2 69.623.245 69.664.760 1885 NGF nerve growth factor (beta polypeptide) 1 115.828.537 115.880.857 1886 NGLY1 N-glycanase 1 3 25.760.435 25.831.530 1887 NHEJ1 nonhomologous end-joining factor 1 2 219.940.046 220.025.587 1888 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 6 18.120.718 18.122.851 1889 NHP2 NHP2 ribonucleoprotein 5 177.576.464 177.580.961 1890 NHS Nance-Horan syndrome (congenital cataracts and dental X 17.393.357 17.754.114 anomalies) 1891 NIN ninein (GSK3B interacting protein) 14 51.186.481 51.297.839 1892 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 15 23.043.279 23.086.843 1893 NIPAL4 NIPA-like domain containing 4 5 156.887.027 156.901.730 1894 NIPBL Nipped-B homolog (Drosophila) 5 36.876.861 37.065.926 1895 NKX2-1 NK2 homeobox 1 14 36.985.602 36.990.894 1896 NKX2-5 NK2 homeobox 5 5 172.659.107 172.662.315 1897 NKX2-6 NK2 homeobox 6 8 23.559.964 23.564.111 1898 NKX3-2 NK3 homeobox 2 4 13.542.454 13.546.114 1899 NLGN3 neuroligin 3 X 70.364.681 70.391.682 1900 NLGN4X neuroligin 4, X-linked X 5.808.067 6.146.916 1901 NLRP1 NLR family, pyrin domain containing 1 17 5.404.719 5.487.832 1902 NLRP12 NLR family, pyrin domain containing 12 19 54.296.838 54.327.657 1903 NLRP3 NLR family, pyrin domain containing 3 1 247.579.247 247.612.410 1904 NLRP7 NLR family, pyrin domain containing 7 19 55.434.857 55.477.611 1905 NME1 NME/NM23 nucleoside diphosphate kinase 1 17 49.230.920 49.239.450 1906 NME8 NME/NM23 family member 8 7 37.887.930 37.940.003 1907 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 1 10.003.486 10.045.556 1908 NNT nicotinamide nucleotide transhydrogenase 5 43.602.791 43.705.668 1909 NOBOX NOBOX oogenesis homeobox 7 144.094.333 144.107.320 1910 NOD2 nucleotide-binding oligomerization domain containing 2 16 50.727.507 50.766.990 1911 NODAL nodal growth differentiation factor 10 72.191.692 72.201.465 1912 NOG noggin 17 54.671.060 54.672.951 1913 NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) 16 67.204.400 67.209.640 1914 NOP10 NOP10 ribonucleoprotein 15 34.633.917 34.635.362 1915 NOP56 NOP56 ribonucleoprotein 20 2.633.178 2.639.039 1916 NOTCH1 notch 1 9 139.388.896 139.440.238 1917 NOTCH2 notch 2 1 120.454.176 120.639.880 1918 NOTCH3 notch 3 19 15.270.444 15.311.792 1919 NPC1 Niemann-Pick disease, type C1 18 21.086.148 21.166.581 1920 NPC2 Niemann-Pick disease, type C2 14 74.942.900 74.960.084 1921 NPHP1 nephronophthisis 1 (juvenile) 2 110.880.913 110.962.639 1922 NPHP3 nephronophthisis 3 (adolescent) 3 132.399.453 132.441.303 1923 NPHP4 nephronophthisis 4 1 5.922.870 6.052.618 1924 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 36.316.274 36.342.895 1925 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 1 179.519.674 179.545.086 1926 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 5 170.814.652 170.837.888 1927 NPPA natriuretic peptide A 1 11.905.766 11.907.840 1928 NPR2 natriuretic peptide receptor 2 9 35.789.962 35.809.728 1929 NR0B1 nuclear receptor subfamily 0, group B, member 1 X 30.322.539 30.327.495 1930 NR0B2 nuclear receptor subfamily 0, group B, member 2 1 27.237.975 27.240.567 1931 NR2E3 nuclear receptor subfamily 2, group E, member 3 15 72.102.888 72.110.600 1932 NR2F1 nuclear receptor subfamily 2, group F, member 1 5 92.919.043 92.930.319 1933 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid 5 142.657.496 143.113.322 receptor) 1934 NR3C2 nuclear receptor subfamily 3, group C, member 2 4 148.999.915 149.365.850 1935 NR4A3 nuclear receptor subfamily 4, group A, member 3 9 102.584.137 102.629.173 1936 NR5A1 nuclear receptor subfamily 5, group A, member 1 9 127.243.515 127.269.769 1937 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 1 115.247.085 115.259.515 1938 NRG3 neuregulin 3 10 83.635.070 84.746.935 1939 NRL neural retina leucine zipper 14 24.547.902 24.584.223 1940 NRTN neurturin 19 5.823.818 5.828.335 1941 NRXN1 neurexin 1 2 50.145.643 51.259.674 1942 NSD1 nuclear receptor binding SET domain protein 1 5 176.560.026 176.727.214 1943 NSDHL NAD(P) dependent steroid dehydrogenase-like X 151.999.511 152.037.907 1944 NSMF NMDA receptor synaptonuclear signaling and neuronal migration 9 140.342.022 140.353.808 factor 1945 NSUN2 NOP2/Sun RNA methyltransferase family, member 2 5 6.599.352 6.633.473 1946 NT5C2 5'-nucleotidase, cytosolic II 10 104.847.774 104.953.063 1947 NT5C3A 5'-nucleotidase, cytosolic IIIA 7 33.053.725 33.102.409 1948 NT5E 5'-nucleotidase, ecto (CD73) 6 86.159.302 86.205.509 1949 NTF4 neurotrophin 4 19 49.564.323 49.568.333 1950 NTNG1 netrin G1 1 107.682.540 108.024.477 1951 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1 156.785.542 156.851.642 1952 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 9 87.283.417 87.641.985 1953 NUBPL nucleotide binding protein-like 14 32.030.591 32.330.430 1954 NUP214 nucleoporin 214kDa 9 134.000.948 134.110.057 1955 NUP62 nucleoporin 62kDa 19 50.410.082 50.432.988 1956 NYX nyctalopin X 41.306.713 41.334.905 1957 OAT ornithine aminotransferase 10 126.085.872 126.107.545 1958 OBSL1 obscurin-like 1 2 220.415.450 220.436.357 1959 OCA2 oculocutaneous albinism II 15 28.000.021 28.344.483 1960 OCLN occludin 5 68.788.119 68.853.931 1961 OCRL oculocerebrorenal syndrome of Lowe X 128.673.826 128.726.533 1962 OFD1 oral-facial-digital syndrome 1 X 13.733.549 13.787.480 1963 OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 7 44.646.104 44.748.669 1964 OGG1 8-oxoguanine DNA glycosylase 3 9.791.628 9.829.468 1965 OPA1 optic atrophy 1 (autosomal dominant) 3 193.310.933 193.415.600 1966 OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic 19 46.031.025 46.088.122 paraplegia) 1967 OPHN1 oligophrenin 1 X 67.262.186 67.653.369 1968 OPLAH 5-oxoprolinase (ATP-hydrolysing) 8 145.106.167 145.115.584 1969 OPN1LW opsin 1 (cone pigments), long-wave-sensitive X 153.409.725 153.424.507 1970 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive X 153.448.085 153.462.352 1971 OPN1SW opsin 1 (cone pigments), short-wave-sensitive 7 128.412.543 128.415.844 1972 OPTN optineurin 10 13.141.425 13.180.291 1973 ORAI1 ORAI calcium release-activated calcium modulator 1 12 122.064.455 122.079.946 1974 ORC1 origin recognition complex, subunit 1 1 52.838.501 52.870.143 1975 ORC4 origin recognition complex, subunit 4 2 148.687.966 148.779.173 1976 ORC6 origin recognition complex, subunit 6 16 46.723.558 46.732.306 1977 OSMR oncostatin M receptor 5 38.845.960 38.935.743 1978 OSTM1 osteopetrosis associated transmembrane protein 1 6 108.362.613 108.395.941 1979 OTC ornithine carbamoyltransferase X 38.211.736 38.280.703 1980 OTOA otoancorin 16 21.689.835 21.772.050 1981 OTOF otoferlin 2 26.680.071 26.781.566 1982 OTOG otogelin 11 17.568.920 17.667.491 1983 OTOGL otogelin-like 12 80.583.151 80.772.870 1984 OTX2 orthodenticle homeobox 2 14 57.267.425 57.277.194 1985 OXCT1 3-oxoacid CoA transferase 1 5 41.730.167 41.870.791 1986 P2RX2 purinergic receptor P2X, ligand gated ion channel, 2 12 133.195.393 133.198.972 1987 P2RY11 purinergic receptor P2Y, G-protein coupled, 11 19 10.222.197 10.226.065 1988 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 3 151.054.631 151.102.600 1989 P3H1 prolyl 3-hydroxylase 1 1 43.212.006 43.232.755 1990 P3H2 prolyl 3-hydroxylase 2 3 189.674.517 189.840.226 1991 P4HB prolyl 4-hydroxylase, beta polypeptide 17 79.801.034 79.818.566 1992 PABPN1 poly(A) binding protein, nuclear 1 14 23.789.397 23.795.394 1993 PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 17 2.496.923 2.588.909 (45kDa) 1994 PAH phenylalanine hydroxylase 12 103.232.104 103.311.381 1995 PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 X 110.187.513 110.470.590 1996 PALB2 partner and localizer of BRCA2 16 23.614.481 23.652.678 1997 PANK2 pantothenate kinase 2 20 3.869.486 3.904.538 1998 PAPPA pregnancy-associated plasma protein A, pappalysin 1 9 118.916.071 119.164.600 1999 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 10 89.419.476 89.507.462 2000 PARK2 parkin RBR E3 ubiquitin protein ligase 6 161.768.590 163.148.834 2001 PARK7 parkinson protein 7 1 8.021.714 8.045.342 2002 PARP1 poly (ADP-ribose) polymerase 1 1 226.548.392 226.595.801 2003 PAX1 paired box 1 20 21.686.297 21.699.124 2004 PAX2 paired box 2 10 102.495.316 102.589.698 2005 PAX3 paired box 3 2 223.064.606 223.163.715 2006 PAX4 paired box 4 7 127.250.346 127.255.982 2007 PAX6 paired box 6 11 31.806.340 31.839.509 2008 PAX7 paired box 7 1 18.957.500 19.075.360 2009 PAX8 paired box 8 2 113.973.574 114.036.527 2010 PAX9 paired box 9 14 37.126.773 37.147.012 2011 PBX1 pre-B-cell leukemia homeobox 1 1 164.528.597 164.821.067 2012 PC pyruvate carboxylase 11 66.615.993 66.725.847 2013 PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor 10 72.642.037 72.648.541 of hepatocyte nuclear factor 1 alpha 2014 PCCA propionyl CoA carboxylase, alpha polypeptide 13 100.741.269 101.182.691 2015 PCCB propionyl CoA carboxylase, beta polypeptide 3 135.969.167 136.056.737 2016 PCDH15 protocadherin-related 15 10 55.562.531 56.561.051 2017 PCDH19 protocadherin 19 X 99.546.642 99.665.271 2018 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) 20 56.136.137 56.141.515 2019 PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) 14 24.563.347 24.573.339 2020 PCM1 pericentriolar material 1 8 17.780.364 17.887.457 2021 PCNT pericentrin 21 47.743.976 47.865.682 2022 PCSK1 proprotein convertase subtilisin/kexin type 1 5 95.726.040 95.768.985 2023 PCSK9 proprotein convertase subtilisin/kexin type 9 1 55.505.149 55.530.526 2024 PCYT1A phosphate cytidylyltransferase 1, choline, alpha 3 195.961.239 196.014.623 2025 PDCD10 programmed cell death 10 3 167.401.692 167.452.693 2026 PDE11A phosphodiesterase 11A 2 178.487.977 178.973.066 2027 PDE4D phosphodiesterase 4D, cAMP-specific 5 58.264.865 59.783.925 2028 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 5 149.237.519 149.324.356 2029 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 4 619.363 664.681 2030 PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 10 95.372.345 95.425.430 2031 PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 2 232.597.147 232.645.974 2032 PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 17 79.617.489 79.623.607 2033 PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 12 15.125.956 15.134.799 2034 PDE8B phosphodiesterase 8B 5 76.476.082 76.724.081 2035 PDGFB platelet-derived growth factor beta polypeptide 22 39.619.685 39.640.957 2036 PDGFRA platelet-derived growth factor receptor, alpha polypeptide 4 55.095.264 55.164.412 2037 PDGFRB platelet-derived growth factor receptor, beta polypeptide 5 149.493.402 149.535.447 2038 PDGFRL platelet-derived growth factor receptor-like 8 17.433.942 17.500.642 2039 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 X 19.362.011 19.379.825 2040 PDHB pyruvate dehydrogenase (lipoamide) beta 3 58.413.357 58.419.579 2041 PDHX pyruvate dehydrogenase complex, component X 11 34.937.677 35.017.675 2042 PDK3 pyruvate dehydrogenase kinase, isozyme 3 X 24.483.344 24.568.583 2043 PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 8 94.929.083 94.938.296 2044 PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 10 26.986.353 27.035.727 2045 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 6 107.473.761 107.780.779 2046 PDX1 pancreatic and duodenal homeobox 1 13 28.494.168 28.500.451 2047 PDYN prodynorphin 20 1.959.402 1.974.931 2048 PDZD7 PDZ domain containing 7 10 102.767.440 102.790.914 2049 PECR peroxisomal trans-2-enoyl-CoA reductase 2 216.903.111 216.946.539 2050 PEPD peptidase D 19 33.877.855 34.012.799 2051 PER2 period circadian clock 2 2 239.152.679 239.198.678 2052 PET100 PET100 homolog (S. cerevisiae) 19 7.694.671 7.696.510 2053 PEX1 peroxisomal biogenesis factor 1 7 92.116.337 92.157.845 2054 PEX10 peroxisomal biogenesis factor 10 1 2.336.241 2.344.010 2055 PEX11B peroxisomal biogenesis factor 11 beta 1 145.516.165 145.523.732 2056 PEX12 peroxisomal biogenesis factor 12 17 33.901.814 33.905.656 2057 PEX13 peroxisomal biogenesis factor 13 2 61.244.812 61.279.125 2058 PEX14 peroxisomal biogenesis factor 14 1 10.535.003 10.690.815 2059 PEX16 peroxisomal biogenesis factor 16 11 45.931.220 45.939.674 2060 PEX19 peroxisomal biogenesis factor 19 1 160.246.599 160.254.941 2061 PEX2 peroxisomal biogenesis factor 2 8 77.892.494 77.913.280 2062 PEX26 peroxisomal biogenesis factor 26 22 18.560.686 18.573.797 2063 PEX3 peroxisomal biogenesis factor 3 6 143.771.918 143.811.753 2064 PEX5 peroxisomal biogenesis factor 5 12 7.341.759 7.371.170 2065 PEX6 peroxisomal biogenesis factor 6 6 42.931.611 42.946.981 2066 PEX7 peroxisomal biogenesis factor 7 6 137.143.702 137.235.072 2067 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 X 54.959.307 55.025.244 2068 PFKM phosphofructokinase, muscle 12 48.499.656 48.540.187 2069 PFN1 profilin 1 17 4.848.945 4.852.381 2070 PGAM2 phosphoglycerate mutase 2 (muscle) 7 44.102.326 44.105.186 2071 PGAP2 post-GPI attachment to proteins 2 11 3.818.954 3.847.601 2072 PGD phosphogluconate dehydrogenase 1 10.458.884 10.480.565 2073 PGK1 phosphoglycerate kinase 1 X 77.359.666 77.382.324 2074 PGM1 phosphoglucomutase 1 1 64.058.947 64.125.916 2075 PGR progesterone receptor 11 100.900.355 101.000.544 2076 PHACTR1 phosphatase and actin regulator 1 6 12.716.888 13.290.476 2077 PHB prohibitin 17 47.481.410 47.492.267 2078 PHC1 polyhomeotic homolog 1 (Drosophila) 12 9.067.292 9.094.063 2079 PHEX phosphate regulating endopeptidase homolog, X-linked X 22.050.921 22.266.478 2080 PHF6 PHD finger protein 6 X 133.507.324 133.562.822 2081 PHF8 PHD finger protein 8 X 53.963.113 54.075.368 2082 PHGDH phosphoglycerate dehydrogenase 1 120.254.419 120.286.849 2083 PHIP pleckstrin homology domain interacting protein 6 79.644.136 79.788.011 2084 PHKA1 phosphorylase kinase, alpha 1 (muscle) X 71.798.664 71.934.029 2085 PHKA2 phosphorylase kinase, alpha 2 (liver) X 18.910.416 19.002.480 2086 PHKB phosphorylase kinase, beta 16 47.495.047 47.735.434 2087 PHKG2 phosphorylase kinase, gamma 2 (testis) 16 30.759.574 30.772.497 2088 PHOX2A paired-like homeobox 2a 11 71.950.121 71.955.220 2089 PHOX2B paired-like homeobox 2b 4 41.746.099 41.750.987 2090 PHYH phytanoyl-CoA 2-hydroxylase 10 13.319.796 13.342.133 2091 PI3 peptidase inhibitor 3, skin-derived 20 43.803.540 43.805.185 2092 PICALM phosphatidylinositol binding clathrin assembly protein 11 85.668.214 85.780.923 2093 PIEZO1 piezo-type mechanosensitive ion channel component 1 16 88.781.746 88.851.372 2094 PIEZO2 piezo-type mechanosensitive ion channel component 2 18 10.670.244 11.148.761 2095 PIGA phosphatidylinositol glycan anchor biosynthesis, class A X 15.337.573 15.353.676 2096 PIGL phosphatidylinositol glycan anchor biosynthesis, class L 17 16.120.509 16.230.098 2097 PIGM phosphatidylinositol glycan anchor biosynthesis, class M 1 159.997.462 160.001.783 2098 PIGN phosphatidylinositol glycan anchor biosynthesis, class N 18 59.711.457 59.854.289 2099 PIGO phosphatidylinositol glycan anchor biosynthesis, class O 9 35.087.028 35.096.598 2100 PIGT phosphatidylinositol glycan anchor biosynthesis, class T 20 44.044.707 44.054.885 2101 PIGV phosphatidylinositol glycan anchor biosynthesis, class V 1 27.113.739 27.124.894 2102 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit 3 178.866.311 178.952.500 alpha 2103 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 5 67.511.584 67.597.649 2104 PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 19 18.263.988 18.281.343 2105 PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 17 8.782.233 8.869.029 2106 PIKFYVE phosphoinositide kinase, FYVE finger containing 2 209.130.990 209.223.475 2107 PINK1 PTEN induced putative kinase 1 1 20.959.948 20.978.004 2108 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 19 3.630.179 3.700.484 2109 PITPNM3 PITPNM family member 3 17 6.354.583 6.459.877 2110 PITX1 paired-like homeodomain 1 5 134.363.424 134.369.964 2111 PITX2 paired-like homeodomain 2 4 111.538.579 111.563.279 2112 PITX3 paired-like homeodomain 3 10 103.989.946 104.001.231 2113 PKD1 polycystic kidney disease 1 (autosomal dominant) 16 2.138.709 2.185.899 2114 PKD2 polycystic kidney disease 2 (autosomal dominant) 4 88.928.799 88.998.931 2115 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 6 51.480.145 51.952.423 2116 PKLR pyruvate kinase, liver and RBC 1 155.259.084 155.278.531 2117 PKP1 plakophilin 1 1 201.252.580 201.302.121 2118 PKP2 plakophilin 2 12 32.943.680 33.049.780 2119 PLA2G5 phospholipase A2, group V 1 20.386.157 20.418.394 2120 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 22 38.507.502 38.577.857 2121 PLA2G7 phospholipase A2, group VII (platelet-activating factor 6 46.672.053 46.703.430 acetylhydrolase, plasma) 2122 PLAG1 pleiomorphic adenoma gene 1 8 57.073.463 57.123.859 2123 PLAT plasminogen activator, tissue 8 42.032.236 42.065.242 2124 PLAU plasminogen activator, urokinase 10 75.670.862 75.677.259 2125 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 20 8.112.912 8.865.547 2126 PLCB4 phospholipase C, beta 4 20 9.049.357 9.461.463 2127 PLCD1 phospholipase C, delta 1 3 38.048.987 38.071.154 2128 PLCE1 phospholipase C, epsilon 1 10 95.753.746 96.088.149 2129 PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 16 81.812.899 81.996.290 2130 PLEC plectin 8 144.989.321 145.050.913 2131 PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef 16 67.311.413 67.323.403 domain) member 4 2132 PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef 1 6.526.152 6.580.121 domain) member 5 2133 PLEKHM1 pleckstrin homology domain containing, family M (with RUN 17 43.513.266 43.568.146 domain) member 1 2134 PLG plasminogen 6 161.123.225 161.175.086 2135 PLIN1 perilipin 1 15 90.207.598 90.222.648 2136 PLN phospholamban 6 118.869.442 118.881.587 2137 PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 1 11.994.724 12.035.599 2138 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 3 145.787.225 145.879.282 2139 PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 7 100.849.258 100.861.011 2140 PLP1 proteolipid protein 1 X 103.031.439 103.047.548 2141 PLS3 plastin 3 X 114.795.177 114.885.181 2142 PMM2 phosphomannomutase 2 16 8.891.670 8.943.194 2143 PMP22 peripheral myelin protein 22 17 15.133.094 15.168.674 2144 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 7 6.012.870 6.048.737 2145 PNKD paroxysmal nonkinesigenic dyskinesia 2 219.135.115 219.211.516 2146 PNKP polynucleotide kinase 3'-phosphatase 19 50.364.460 50.370.840 2147 PNLIP pancreatic lipase 10 118.305.428 118.327.367 2148 PNMT phenylethanolamine N-methyltransferase 17 37.824.234 37.826.728 2149 PNP purine nucleoside phosphorylase 14 20.937.538 20.946.165 2150 PNPLA1 patatin-like phospholipase domain containing 1 6 36.210.945 36.276.372 2151 PNPLA2 patatin-like phospholipase domain containing 2 11 818.901 825.573 2152 PNPLA6 patatin-like phospholipase domain containing 6 19 7.599.033 7.626.653 2153 PNPO pyridoxamine 5'-phosphate oxidase 17 46.018.889 46.026.674 2154 PNPT1 polyribonucleotide nucleotidyltransferase 1 2 55.861.198 55.921.045 2155 POC1A POC1 centriolar protein A 3 52.109.249 52.188.720 2156 POF1B premature ovarian failure, 1B X 84.532.395 84.634.748 2157 POFUT1 protein O-fucosyltransferase 1 20 30.795.625 30.826.467 2158 POGLUT1 protein O-glucosyltransferase 1 3 119.187.785 119.213.555 2159 POLA1 polymerase (DNA directed), alpha 1, catalytic subunit X 24.712.038 25.015.103 2160 POLD1 polymerase (DNA directed), delta 1, catalytic subunit 19 50.887.531 50.921.275 2161 POLE polymerase (DNA directed), epsilon, catalytic subunit 12 133.200.344 133.264.050 2162 POLG polymerase (DNA directed), gamma 15 89.859.536 89.878.026 2163 POLG2 polymerase (DNA directed), gamma 2, accessory subunit 17 62.473.902 62.493.184 2164 POLH polymerase (DNA directed), eta 6 43.543.878 43.588.260 2165 POLR1C polymerase (RNA) I polypeptide C, 30kDa 6 43.484.777 43.497.114 2166 POLR1D polymerase (RNA) I polypeptide D, 16kDa 13 28.194.880 28.241.559 2167 POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 10 79.734.907 79.789.298 2168 POLR3B polymerase (RNA) III (DNA directed) polypeptide B 12 106.751.436 106.903.976 2169 POMC proopiomelanocortin 2 25.383.722 25.391.559 2170 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1 46.654.353 46.685.977 1,2-) 2171 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 3 43.120.721 43.147.575 1,4-) 2172 POMK protein-O-mannose kinase 8 42.948.649 42.978.323 2173 POMP proteasome maturation protein 13 29.233.141 29.253.094 2174 POMT1 protein-O-mannosyltransferase 1 9 134.378.282 134.399.193 2175 POMT2 protein-O-mannosyltransferase 2 14 77.741.299 77.787.225 2176 PON1 paraoxonase 1 7 94.927.669 94.953.884 2177 POR P450 (cytochrome) oxidoreductase 7 75.544.420 75.616.173 2178 PORCN porcupine homolog (Drosophila) X 48.367.347 48.379.202 2179 POU1F1 POU class 1 homeobox 1 3 87.308.783 87.325.737 2180 POU3F4 POU class 3 homeobox 4 X 82.763.269 82.764.775 2181 POU4F3 POU class 4 homeobox 3 5 145.718.587 145.720.083 2182 POU6F2 POU class 6 homeobox 2 7 39.017.609 39.504.390 2183 PPARG peroxisome proliferator-activated receptor gamma 3 12.329.349 12.475.855 2184 PPIB peptidylprolyl isomerase B (cyclophilin B) 15 64.448.014 64.455.354 2185 PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D 17 58.677.544 58.743.641 2186 PPOX protoporphyrinogen oxidase 1 161.135.832 161.148.136 2187 PPP1R3A protein phosphatase 1, regulatory subunit 3A 7 113.516.882 113.559.082 2188 PPP2R1B protein phosphatase 2, regulatory subunit A, beta 11 111.597.632 111.637.169 2189 PPP2R2B protein phosphatase 2, regulatory subunit B, beta 5 145.969.067 146.461.083 2190 PPP2R5D protein phosphatase 2, regulatory subunit B', delta 6 42.952.218 42.980.083 2191 PPT1 palmitoyl-protein thioesterase 1 1 40.538.382 40.563.142 2192 PQBP1 polyglutamine binding protein 1 X 48.755.160 48.760.422 2193 PRCC papillary renal cell carcinoma (translocation-associated) 1 156.737.274 156.770.609 2194 PRCD progressive rod-cone degeneration 17 74.523.668 74.541.458 2195 PRDM16 PR domain containing 16 1 2.985.565 3.355.185 2196 PRDM5 PR domain containing 5 4 121.613.070 121.844.013 2197 PRF1 perforin 1 (pore forming protein) 10 72.357.104 72.362.531 2198 PRG4 proteoglycan 4 1 186.265.405 186.283.688 2199 PRICKLE1 prickle homolog 1 (Drosophila) 12 42.852.140 42.983.572 2200 PRICKLE2 prickle homolog 2 (Drosophila) 3 64.079.526 64.253.859 2201 PRIMPOL primase and polymerase (DNA-directed) 4 185.570.767 185.616.112 2202 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 7 151.253.200 151.574.316 2203 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 17 66.507.921 66.547.457 2204 PRKCA protein kinase C, alpha 17 64.298.760 64.806.862 2205 PRKCD protein kinase C, delta 3 53.195.223 53.226.733 2206 PRKCG protein kinase C, gamma 19 54.385.467 54.410.906 2207 PRKCSH protein kinase C substrate 80K-H 19 11.546.111 11.561.783 2208 PRKG1 protein kinase, cGMP-dependent, type I 10 52.750.911 54.058.110 2209 PRKRA protein kinase, interferon-inducible double stranded RNA 2 179.296.141 179.315.958 dependent activator 2210 PRLR prolactin receptor 5 35.048.861 35.230.823 2211 PRMT9 protein arginine methyltransferase 9 4 148.558.936 148.605.381 2212 PRNP prion protein 20 4.666.797 4.682.235 2213 PROC protein C (inactivator of coagulation factors Va and VIIIa) 2 128.175.996 128.186.822 2214 PRODH proline dehydrogenase (oxidase) 1 22 18.900.206 18.924.066 2215 PROK2 prokineticin 2 3 71.820.806 71.834.357 2216 PROKR2 prokineticin receptor 2 20 5.281.711 5.297.378 2217 PROM1 prominin 1 4 15.969.849 16.085.723 2218 PROP1 PROP paired-like homeobox 1 5 177.419.236 177.423.243 2219 PROS1 protein S (alpha) 3 93.591.881 93.692.934 2220 PROX2 prospero homeobox 2 14 75.319.736 75.330.562 2221 PRPF3 pre-mRNA processing factor 3 1 150.293.928 150.325.704 2222 PRPF31 pre-mRNA processing factor 31 19 54.618.790 54.635.150 2223 PRPF6 pre-mRNA processing factor 6 20 62.612.417 62.664.453 2224 PRPF8 pre-mRNA processing factor 8 17 1.553.923 1.588.176 2225 PRPH2 peripherin 2 (retinal degeneration, slow) 6 42.664.333 42.690.692 2226 PRPS1 phosphoribosyl pyrophosphate synthetase 1 X 106.871.654 106.894.256 2227 PRPS2 phosphoribosyl pyrophosphate synthetase 2 X 12.809.474 12.842.346 2228 PRRT2 proline-rich transmembrane protein 2 16 29.823.409 29.827.202 2229 PRRX1 paired related homeobox 1 1 170.633.313 170.708.541 2230 PRSS1 protease, serine, 1 (trypsin 1) 7 142.457.319 142.460.927 2231 PRSS12 protease, serine, 12 (neurotrypsin, motopsin) 4 119.201.193 119.274.053 2232 PRSS56 protease, serine, 56 2 233.385.173 233.390.426 2233 PRX periaxin 19 40.899.671 40.919.279 2234 PSAP prosaposin 10 73.576.055 73.611.082 2235 PSAT1 phosphoserine aminotransferase 1 9 80.911.991 80.945.009 2236 PSEN1 presenilin 1 14 73.603.143 73.690.399 2237 PSEN2 presenilin 2 1 227.057.885 227.083.804 2238 PSENEN presenilin enhancer gamma secretase subunit 19 36.236.478 36.238.056 2239 PSG1 pregnancy specific beta-1-glycoprotein 1 19 43.370.613 43.383.921 2240 PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 20 60.711.783 60.718.514 2241 PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 6 32.808.494 32.812.712 2242 PSMC3IP PSMC3 interacting protein 17 40.724.328 40.729.849 2243 PSPH phosphoserine phosphatase 7 56.078.056 56.119.297 2244 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 15 77.287.021 77.329.673 2245 PTCH1 patched 1 9 98.205.264 98.279.247 2246 PTCH2 patched 2 1 45.285.516 45.309.226 2247 PTCHD1 patched domain containing 1 X 23.352.985 23.414.918 2248 PTDSS1 phosphatidylserine synthase 1 8 97.274.167 97.346.774 2249 PTEN phosphatase and tensin homolog 10 89.623.195 89.728.532 2250 PTF1A pancreas specific transcription factor, 1a 10 23.481.460 23.483.181 2251 PTGIS prostaglandin I2 (prostacyclin) synthase 20 48.120.411 48.184.707 2252 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H 9 125.132.809 125.157.982 synthase and cyclooxygenase) 2253 PTH parathyroid hormone 11 13.513.601 13.517.567 2254 PTH1R parathyroid hormone 1 receptor 3 46.919.236 46.945.289 2255 PTHLH parathyroid hormone-like hormone 12 28.111.017 28.125.664 2256 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12 112.856.536 112.947.717 2257 PTPN12 protein tyrosine phosphatase, non-receptor type 12 7 77.166.773 77.269.388 2258 PTPN14 protein tyrosine phosphatase, non-receptor type 14 1 214.521.640 214.725.024 2259 PTPN2 protein tyrosine phosphatase, non-receptor type 2 18 12.785.477 12.884.337 2260 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 1 114.356.433 114.414.375 2261 PTPRC protein tyrosine phosphatase, receptor type, C 1 198.608.098 198.726.605 2262 PTPRJ protein tyrosine phosphatase, receptor type, J 11 48.002.101 48.192.394 2263 PTPRO protein tyrosine phosphatase, receptor type, O 12 15.475.191 15.751.265 2264 PTPRQ protein tyrosine phosphatase, receptor type, Q 12 80.838.126 81.073.968 2265 PTRF polymerase I and transcript release factor 17 40.554.467 40.575.506 2266 PTS 6-pyruvoyltetrahydropterin synthase 11 112.097.088 112.104.696 2267 PUF60 poly-U binding splicing factor 60KDa 8 144.898.514 144.911.556 2268 PUS1 pseudouridylate synthase 1 12 132.413.745 132.428.406 2269 PVR poliovirus receptor 19 45.147.098 45.169.429 2270 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) 11 119.508.808 119.599.435 2271 PVRL4 poliovirus receptor-related 4 1 161.040.781 161.059.385 2272 PYCR1 pyrroline-5-carboxylate reductase 1 17 79.890.260 79.895.203 2273 PYGL phosphorylase, glycogen, liver 14 51.371.935 51.411.248 2274 PYGM phosphorylase, glycogen, muscle 11 64.513.861 64.528.187 2275 QDPR quinoid dihydropteridine reductase 4 17.488.016 17.513.857 2276 RAB18 RAB18, member RAS oncogene family 10 27.793.103 27.831.166 2277 RAB23 RAB23, member RAS oncogene family 6 57.051.790 57.087.112 2278 RAB27A RAB27A, member RAS oncogene family 15 55.495.164 55.582.034 2279 RAB28 RAB28, member RAS oncogene family 4 13.343.863 13.485.989 2280 RAB33B RAB33B, member RAS oncogene family 4 140.374.961 140.397.070 2281 RAB39B RAB39B, member RAS oncogene family X 154.487.526 154.493.852 2282 RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 2 135.809.835 135.928.280 2283 RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) 1 220.321.610 220.445.843 2284 RAB40AL RAB40A, member RAS oncogene family-like X 102.192.200 102.193.228 2285 RAB7A RAB7A, member RAS oncogene family 3 128.444.975 128.533.641 2286 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP 22 37.621.301 37.640.339 binding protein Rac2) 2287 RAD21 RAD21 homolog (S. pombe) 8 117.858.173 117.887.105 2288 RAD50 RAD50 homolog (S. cerevisiae) 5 131.892.616 131.980.313 2289 RAD51 RAD51 recombinase 15 40.987.327 41.024.356 2290 RAD51C RAD51 paralog C 17 56.769.934 56.811.703 2291 RAD54B RAD54 homolog B (S. cerevisiae) 8 95.384.188 95.487.343 2292 RAD54L RAD54-like (S. cerevisiae) 1 46.713.367 46.744.145 2293 RAF1 Raf-1 proto-oncogene, serine/threonine kinase 3 12.625.100 12.705.700 2294 RAG1 recombination activating gene 1 11 36.532.053 36.601.312 2295 RAG2 recombination activating gene 2 11 36.613.493 36.619.829 2296 RAI1 retinoic acid induced 1 17 17.584.787 17.714.767 2297 RALGDS ral guanine nucleotide dissociation stimulator 9 135.973.107 136.024.607 2298 RANBP2 RAN binding protein 2 2 109.335.902 109.402.267 2299 RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 9 134.452.157 134.615.364 2300 RAPSN receptor-associated protein of the synapse 11 47.459.308 47.470.730 2301 RARA retinoic acid receptor, alpha 17 38.465.423 38.513.895 2302 RARB retinoic acid receptor, beta 3 25.215.638 25.639.423 2303 RARS2 arginyl-tRNA synthetase 2, mitochondrial 6 88.223.656 88.299.735 2304 RASA1 RAS p21 protein activator (GTPase activating protein) 1 5 86.564.070 86.687.743 2305 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 3 50.367.217 50.378.367 2306 RAX retina and anterior neural fold homeobox 18 56.934.267 56.940.625 2307 RAX2 retina and anterior neural fold homeobox 2 19 3.769.087 3.772.219 2308 RB1 retinoblastoma 1 13 48.877.883 49.056.026 2309 RB1CC1 RB1-inducible coiled-coil 1 8 53.535.018 53.627.026 2310 RBBP8 retinoblastoma binding protein 8 18 20.513.295 20.606.451 2311 RBM10 RNA binding motif protein 10 X 47.004.617 47.046.214 2312 RBM20 RNA binding motif protein 20 10 112.404.155 112.599.227 2313 RBM28 RNA binding motif protein 28 7 127.950.429 127.983.962 2314 RBM8A RNA binding motif protein 8A 1 145.507.557 145.513.536 2315 RBP3 retinol binding protein 3, interstitial 10 48.381.487 48.390.991 2316 RBP4 retinol binding protein 4, plasma 10 95.351.593 95.361.101 2317 RBPJ recombination signal binding protein for immunoglobulin kappa J 4 26.165.077 26.436.753 region 2318 RCVRN recoverin 17 9.801.027 9.808.684 2319 RD3 retinal degeneration 3 1 211.649.864 211.666.259 2320 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 14 68.168.603 68.201.168 2321 RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 12 56.114.151 56.118.526 2322 RDX radixin 11 110.045.605 110.167.437 2323 RECQL4 RecQ protein-like 4 8 145.736.667 145.743.210 2324 REEP1 receptor accessory protein 1 2 86.441.116 86.565.206 2325 REEP2 receptor accessory protein 2 5 137.774.690 137.782.658 2326 REG1A regenerating islet-derived 1 alpha 2 79.347.584 79.350.545 2327 RELN reelin 7 103.112.231 103.629.963 2328 REN renin 1 204.123.944 204.135.465 2329 RENBP renin binding protein X 153.200.722 153.210.232 2330 RET ret proto-oncogene 10 43.572.517 43.625.799 2331 RFT1 RFT1 homolog (S. cerevisiae) 3 53.122.499 53.164.480 2332 RFX5 regulatory factor X, 5 (influences HLA class II expression) 1 151.313.116 151.319.785 2333 RFX6 regulatory factor X, 6 6 117.198.376 117.253.326 2334 RFXANK regulatory factor X-associated ankyrin-containing protein 19 19.303.008 19.312.678 2335 RFXAP regulatory factor X-associated protein 13 37.393.339 37.403.740 2336 RGR retinal G protein coupled receptor 10 86.004.809 86.018.944 2337 RGS7 regulator of G-protein signaling 7 1 240.938.817 241.520.505 2338 RGS9 regulator of G-protein signaling 9 17 63.133.456 63.223.821 2339 RGS9BP regulator of G protein signaling 9 binding protein 19 33.166.313 33.169.206 2340 RHAG Rh-associated glycoprotein 6 49.572.888 49.604.587 2341 RHBDF2 rhomboid 5 homolog 2 (Drosophila) 17 74.466.975 74.497.509 2342 RHO rhodopsin 3 129.247.482 129.254.187 2343 RIMS1 regulating synaptic membrane exocytosis 1 6 72.596.406 73.112.845 2344 RIN2 Ras and Rab interactor 2 20 19.738.254 19.983.103 2345 RIPK4 receptor-interacting serine-threonine kinase 4 21 43.159.529 43.187.249 2346 RIT1 Ras-like without CAAX 1 1 155.867.599 155.881.193 2347 RLBP1 retinaldehyde binding protein 1 15 89.753.098 89.764.922 2348 RLIM ring finger protein, LIM domain interacting X 73.802.811 73.834.461 2349 RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) 6 151.725.897 151.773.316 2350 RMRP RNA component of mitochondrial RNA processing 9 35.657.748 35.658.015 endoribonuclease 2351 RNASEH2A ribonuclease H2, subunit A 19 12.912.863 12.924.462 2352 RNASEH2B ribonuclease H2, subunit B 13 51.483.814 51.544.596 2353 RNASEH2C ribonuclease H2, subunit C 11 65.485.144 65.488.409 2354 RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 1 182.542.769 182.558.420 2355 RNASET2 ribonuclease T2 6 167.342.992 167.370.077 2356 RNF135 ring finger protein 135 17 29.296.224 29.326.929 2357 RNF139 ring finger protein 139 8 125.487.008 125.500.859 2358 RNF168 ring finger protein 168, E3 ubiquitin protein ligase 3 196.195.654 196.230.639 2359 RNF170 ring finger protein 170 8 42.704.780 42.751.866 2360 RNF212 ring finger protein 212 4 1.050.039 1.107.352 2361 RNF213 ring finger protein 213 17 78.234.643 78.372.586 2362 RNF216 ring finger protein 216 7 5.659.672 5.821.361 2363 RNF6 ring finger protein (C3H2C3 type) 6 13 26.786.894 26.796.686 2364 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 2 122.288.456 122.288.585 2365 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 3 75.955.845 77.699.115 2366 ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) 11 124.735.305 124.751.370 2367 ROGDI rogdi homolog (Drosophila) 16 4.846.963 4.852.951 2368 ROM1 retinal outer segment membrane protein 1 11 62.380.213 62.382.592 2369 ROR2 receptor tyrosine kinase-like orphan receptor 2 9 94.484.878 94.712.444 2370 RP1 retinitis pigmentosa 1 (autosomal dominant) 8 55.528.627 55.682.524 2371 RP1L1 retinitis pigmentosa 1-like 1 8 10.463.859 10.512.617 2372 RP2 retinitis pigmentosa 2 (X-linked recessive) X 46.696.347 46.741.793 2373 RP9 retinitis pigmentosa 9 (autosomal dominant) 7 33.134.409 33.149.002 2374 RPE65 retinal pigment epithelium-specific protein 65kDa 1 68.894.507 68.915.642 2375 RPGR retinitis pigmentosa GTPase regulator X 38.128.423 38.186.817 2376 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 14 21.756.136 21.819.460 2377 RPGRIP1L RPGRIP1-like 16 53.633.818 53.737.771 2378 RPIA ribose 5-phosphate isomerase A 2 88.991.176 89.050.452 2379 RPL10 ribosomal protein L10 X 153.626.571 153.630.901 2380 RPL11 ribosomal protein L11 1 24.018.269 24.022.915 2381 RPL15 ribosomal protein L15 3 23.958.295 23.965.187 2382 RPL21 ribosomal protein L21 13 27.825.692 27.830.705 2383 RPL26 ribosomal protein L26 17 8.280.834 8.286.565 2384 RPL35A ribosomal protein L35a 3 197.677.023 197.682.722 2385 RPL5 ribosomal protein L5 1 93.297.594 93.307.481 2386 RPS10 ribosomal protein S10 6 34.385.231 34.393.902 2387 RPS14 ribosomal protein S14 5 149.822.712 149.829.351 2388 RPS17 ribosomal protein S17 15 82.821.161 82.824.865 2389 RPS19 ribosomal protein S19 19 42.363.988 42.375.484 2390 RPS24 ribosomal protein S24 10 79.793.518 79.816.571 2391 RPS26 ribosomal protein S26 12 56.435.686 56.438.007 2392 RPS4X ribosomal protein S4, X-linked X 71.492.453 71.497.141 2393 RPS4Y1 ribosomal protein S4, Y-linked 1 Y 2.709.623 2.734.997 2394 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 X 20.168.029 20.285.523 2395 RPS7 ribosomal protein S7 2 3.622.853 3.628.509 2396 RPSA ribosomal protein SA 3 39.448.204 39.454.033 2397 RRM2B ribonucleotide reductase M2 B (TP53 inducible) 8 103.216.729 103.251.346 2398 RS1 retinoschisin 1 X 18.657.808 18.690.223 2399 RSPH1 radial spoke head 1 homolog (Chlamydomonas) 21 43.892.596 43.916.417 2400 RSPH4A radial spoke head 4 homolog A (Chlamydomonas) 6 116.937.642 116.954.148 2401 RSPH9 radial spoke head 9 homolog (Chlamydomonas) 6 43.612.767 43.638.935 2402 RSPO1 R-spondin 1 1 38.076.821 38.100.595 2403 RSPO4 R-spondin 4 20 939.095 982.907 2404 RTEL1 regulator of telomere elongation helicase 1 20 62.289.163 62.327.606 2405 RTN2 reticulon 2 19 45.988.546 46.000.313 2406 RTTN rotatin 18 67.671.040 67.872.962 2407 RUNX1 runt-related transcription factor 1 21 36.160.098 36.421.595 2408 RUNX2 runt-related transcription factor 2 6 45.296.054 45.518.819 2409 RXFP2 relaxin/insulin-like family peptide receptor 2 13 32.313.679 32.377.009 2410 RYR1 ryanodine receptor 1 (skeletal) 19 38.924.340 39.078.204 2411 RYR2 ryanodine receptor 2 (cardiac) 1 237.205.510 237.997.288 2412 RYR3 ryanodine receptor 3 15 33.603.177 34.158.304 2413 S100G S100 calcium binding protein G X 16.668.281 16.672.791 2414 SACS sacsin molecular chaperone 13 23.902.962 24.007.867 2415 SAG S-antigen; retina and pineal gland (arrestin) 2 234.216.309 234.255.701 2416 SALL1 spalt-like transcription factor 1 16 51.169.886 51.185.183 2417 SALL4 spalt-like transcription factor 4 20 50.400.551 50.419.059 2418 SAMD9 sterile alpha motif domain containing 9 7 92.728.826 92.747.336 2419 SAMHD1 SAM domain and HD domain 1 20 35.519.285 35.580.246 2420 SAR1B secretion associated, Ras related GTPase 1B 5 133.936.839 133.968.533 2421 SARS seryl-tRNA synthetase 1 109.756.515 109.780.804 2422 SART3 squamous cell carcinoma antigen recognized by T cells 3 12 108.915.991 108.955.165 2423 SAT1 spermidine/spermine N1-acetyltransferase 1 X 23.801.275 23.804.327 2424 SATB2 SATB homeobox 2 2 200.134.223 200.335.989 2425 SBDS Shwachman-Bodian-Diamond syndrome 7 66.452.690 66.460.588 2426 SBF1 SET binding factor 1 22 50.883.429 50.913.467 2427 SBF2 SET binding factor 2 11 9.800.214 10.315.754 2428 SC5D sterol-C5-desaturase 11 121.163.388 121.184.119 2429 SCAPER S-phase cyclin A-associated protein in the ER 15 76.640.526 77.197.796 2430 SCARB2 scavenger receptor class B, member 2 4 77.079.890 77.135.052 2431 SCARF2 scavenger receptor class F, member 2 22 20.778.874 20.792.146 2432 SCN10A sodium channel, voltage gated, type X alpha subunit 3 38.738.837 38.835.501 2433 SCN11A sodium channel, voltage gated, type XI alpha subunit 3 38.887.260 38.995.136 2434 SCN1A sodium channel, voltage gated, type I alpha subunit 2 166.845.670 167.005.642 2435 SCN1B sodium channel, voltage gated, type I beta subunit 19 35.521.555 35.531.353 2436 SCN2A sodium channel, voltage gated, type II alpha subunit 2 165.986.659 166.248.820 2437 SCN2B sodium channel, voltage gated, type II beta subunit 11 118.033.519 118.047.337 2438 SCN3B sodium channel, voltage gated, type III beta subunit 11 123.499.895 123.525.315 2439 SCN4A sodium channel, voltage gated, type IV alpha subunit 17 62.015.914 62.066.876 2440 SCN4B sodium channel, voltage gated, type IV beta subunit 11 118.004.092 118.023.630 2441 SCN5A sodium channel, voltage gated, type V alpha subunit 3 38.589.553 38.691.164 2442 SCN8A sodium channel, voltage gated, type VIII alpha subunit 12 51.984.050 52.206.648 2443 SCN9A sodium channel, voltage gated, type IX alpha subunit 2 167.051.695 167.232.497 2444 SCNN1A sodium channel, non voltage gated 1 alpha subunit 12 6.456.009 6.486.896 2445 SCNN1B sodium channel, non voltage gated 1 beta subunit 16 23.313.591 23.392.620 2446 SCNN1G sodium channel, non voltage gated 1 gamma subunit 16 23.194.040 23.228.201 2447 SCO1 SCO1 cytochrome c oxidase assembly protein 17 10.583.649 10.600.885 2448 SCO2 SCO2 cytochrome c oxidase assembly protein 22 50.961.997 50.964.868 2449 SCP2 sterol carrier protein 2 1 53.392.901 53.517.289 2450 SDCCAG8 serologically defined colon cancer antigen 8 1 243.419.307 243.663.393 2451 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 5 218.338 256.815 2452 SDHAF1 succinate dehydrogenase complex assembly factor 1 19 36.486.090 36.487.220 2453 SDHAF2 succinate dehydrogenase complex assembly factor 2 11 61.197.514 61.214.239 2454 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 1 17.345.217 17.380.665 2455 SDHC succinate dehydrogenase complex, subunit C, integral membrane 1 161.284.166 161.334.541 protein, 15kDa 2456 SDHD succinate dehydrogenase complex, subunit D, integral membrane 11 111.957.548 111.966.525 protein 2457 SEC23A Sec23 homolog A (S. cerevisiae) 14 39.501.123 39.572.447 2458 SEC23B Sec23 homolog B (S. cerevisiae) 20 18.488.188 18.542.059 2459 SEC63 SEC63 homolog (S. cerevisiae) 6 108.188.960 108.279.482 2460 SECISBP2 SECIS binding protein 2 9 91.933.394 91.974.561 2461 SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, 7 83.587.659 84.122.040 secreted, (semaphorin) 3A 2462 SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, 7 82.993.222 83.278.479 secreted, (semaphorin) 3E 2463 SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane 1 156.117.145 156.147.542 domain (TM) and short cytoplasmic domain, (semaphorin) 4A 2464 SEPN1 selenoprotein N, 1 1 26.126.667 26.144.713 2465 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 4 25.121.627 25.162.204 2466 Sep 12 septin 12 16 4.827.615 4.838.522 2467 Sep 09 septin 9 17 75.277.492 75.496.678 2468 SERAC1 serine active site containing 1 6 158.530.536 158.589.312 2469 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, 14 94.843.084 94.857.029 antitrypsin), member 1 2470 SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, 14 94.770.585 94.789.688 antitrypsin), member 6 2471 SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, X 105.277.190 105.282.718 antitrypsin), member 7 2472 SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6 6 2.948.393 2.972.399 2473 SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 18 61.420.281 61.472.610 2474 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 1 173.872.938 173.886.516 2475 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 22 21.128.383 21.142.008 2476 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator 7 100.770.370 100.782.547 inhibitor type 1), member 1 2477 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment 17 1.665.259 1.680.859 epithelium derived factor), member 1 2478 SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment 17 1.646.015 1.658.562 epithelium derived factor), member 2 2479 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 11 57.365.027 57.382.326 2480 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), 11 75.273.101 75.283.849 member 1, (collagen binding protein 1) 2481 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 3 167.453.432 167.543.357 2482 SETBP1 SET binding protein 1 18 42.258.849 42.648.475 2483 SETD5 SET domain containing 5 3 9.439.384 9.519.838 2484 SETX senataxin 9 135.136.827 135.232.113 2485 SF3B1 splicing factor 3b, subunit 1, 155kDa 2 198.256.698 198.299.815 2486 SF3B4 splicing factor 3b, subunit 4, 49kDa 1 149.895.209 149.901.449 2487 SFTPA1 surfactant protein A1 10 81.370.651 81.375.199 2488 SFTPA2 surfactant protein A2 10 81.315.608 81.320.177 2489 SFTPB surfactant protein B 2 85.884.440 85.895.864 2490 SFTPC surfactant protein C 8 22.014.853 22.021.992 2491 SFTPD surfactant protein D 10 81.697.496 81.708.861 2492 SFXN4 sideroflexin 4 10 120.900.425 120.925.221 2493 SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 17 48.243.240 48.253.293 2494 SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 4 52.885.752 52.904.485 2495 SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 5 155.462.147 156.194.799 2496 SGCE sarcoglycan, epsilon 7 94.214.536 94.285.521 2497 SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 13 23.755.060 23.899.304 2498 SGSH N-sulfoglucosamine sulfohydrolase 17 78.180.515 78.194.199 2499 SH2B3 SH2B adaptor protein 3 12 111.843.720 111.889.427 2500 SH2D1A SH2 domain containing 1A X 123.480.132 123.507.010 2501 SH3BP2 SH3-domain binding protein 2 4 2.794.750 2.842.823 2502 SH3GL1 SH3-domain GRB2-like 1 19 4.360.364 4.400.565 2503 SH3PXD2B SH3 and PX domains 2B 5 171.752.185 171.881.527 2504 SH3TC2 SH3 domain and tetratricopeptide repeats 2 5 148.361.713 148.442.737 2505 SHANK2 SH3 and multiple ankyrin repeat domains 2 11 70.313.961 70.935.808 2506 SHANK3 SH3 and multiple ankyrin repeat domains 3 22 51.113.070 51.171.640 2507 SHFM1 split hand/foot malformation (ectrodactyly) type 1 7 96.318.079 96.339.203 2508 SHH sonic hedgehog 7 155.595.558 155.604.967 2509 SHOC2 soc-2 suppressor of clear homolog (C. elegans) 10 112.679.301 112.773.425 2510 SHOX short stature homeobox Y 535.079 570.146 2511 SHOX short stature homeobox X 585.079 620.146 2512 SHROOM4 shroom family member 4 X 50.334.642 50.557.044 2513 SI sucrase-isomaltase (alpha-glucosidase) 3 164.696.686 164.796.283 2514 SIGMAR1 sigma non-opioid intracellular receptor 1 9 34.634.719 34.637.805 2515 SIL1 SIL1 nucleotide exchange factor 5 138.282.409 138.534.065 2516 SIM1 single-minded family bHLH transcription factor 1 6 100.832.891 100.912.805 2517 SIX1 SIX homeobox 1 14 61.111.417 61.116.155 2518 SIX3 SIX homeobox 3 2 45.169.037 45.173.216 2519 SIX5 SIX homeobox 5 19 46.268.043 46.272.497 2520 SIX6 SIX homeobox 6 14 60.975.938 60.978.525 2521 SKI SKI proto-oncogene 1 2.160.134 2.241.652 2522 SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 6 31.926.581 31.937.532 2523 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 13 103.696.348 103.719.196 2 2524 SLC10A3 solute carrier family 10, member 3 X 153.715.645 153.719.002 2525 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion 12 51.373.566 51.422.118 transporter), member 2 2526 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), 15 48.498.498 48.596.275 member 1 2527 SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 16 56.899.119 56.949.762

2528 SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 15 34.522.197 34.630.265 6 2529 SLC16A12 solute carrier family 16, member 12 10 91.190.051 91.295.497 2530 SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) X 73.641.328 73.753.764

2531 SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 6 74.303.102 74.363.737 2532 SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 12 100.750.857 100.815.837 8 2533 SLC19A2 solute carrier family 19 (thiamine transporter), member 2 1 169.433.147 169.455.208 2534 SLC19A3 solute carrier family 19 (thiamine transporter), member 3 2 228.549.926 228.582.814 2535 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate 9 4.490.427 4.587.469 transporter, system Xag), member 1 2536 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), 5 36.606.457 36.688.436 member 3 2537 SLC20A2 solute carrier family 20 (phosphate transporter), member 2 8 42.273.980 42.397.356 2538 SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 11 64.358.113 64.369.825 12 2539 SLC22A18 solute carrier family 22, member 18 11 2.920.951 2.946.476 2540 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), 5 131.705.396 131.731.306 member 5 2541 SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), 15 65.903.618 65.953.334 member 1 2542 SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), 15 48.413.169 48.434.926 member 5 2543 SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), 22 19.163.088 19.166.338 member 1 2544 SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 2 172.639.915 172.750.816

2545 SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 7 95.749.532 95.951.459

2546 SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine 13 41.363.547 41.386.601 transporter) member 15 2547 SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate 17 73.269.061 73.285.530 carrier), member 19 2548 SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), 3 48.894.356 48.936.426 member 20 2549 SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), 11 790.475 798.269 member 22 2550 SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), 12 98.987.403 98.995.778 member 3 2551 SLC25A38 solute carrier family 25, member 38 3 39.424.815 39.438.819 2552 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide 4 186.064.417 186.071.538 translocator), member 4 2553 SLC26A2 solute carrier family 26 (anion exchanger), member 2 5 149.340.300 149.366.963 2554 SLC26A3 solute carrier family 26 (anion exchanger), member 3 7 107.405.912 107.443.678 2555 SLC26A4 solute carrier family 26 (anion exchanger), member 4 7 107.301.080 107.358.254 2556 SLC26A5 solute carrier family 26 (anion exchanger), member 5 7 102.993.177 103.086.624 2557 SLC26A8 solute carrier family 26 (anion exchanger), member 8 6 35.911.291 35.992.413 2558 SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 9 131.102.839 131.123.749 2559 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), 10 73.079.010 73.123.147 member 3 2560 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1 43.391.046 43.424.847 2561 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 20 45.338.279 45.364.986

2562 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 3 170.714.137 170.744.768

2563 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 4 9.827.848 10.041.872

2564 SLC30A10 solute carrier family 30, member 10 1 220.087.606 220.101.993 2565 SLC30A2 solute carrier family 30 (zinc transporter), member 2 1 26.364.513 26.373.439 2566 SLC31A1 solute carrier family 31 (copper transporter), member 1 9 115.983.808 116.026.772 2567 SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 3 155.544.300 155.572.248 2568 SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), 5 176.811.432 176.825.849 member 1 2569 SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), 4 25.656.853 25.680.735 member 2 2570 SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), 9 140.125.209 140.131.006 member 3 2571 SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 6 88.182.637 88.222.057

2572 SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 X 48.760.459 48.769.235 2573 SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) 1 100.435.345 100.492.535 transporter), member A3 2574 SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1 11 45.825.623 45.834.568 2575 SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), 1 67.465.015 67.520.080 member D1 2576 SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 5 150.694.539 150.727.151

2577 SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), 11 118.895.061 118.901.616 member 4 2578 SLC39A13 solute carrier family 39 (zinc transporter), member 13 11 47.428.683 47.438.051 2579 SLC39A4 solute carrier family 39 (zinc transporter), member 4 8 145.637.798 145.642.279 2580 SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), 2 44.502.597 44.547.963 member 1 2581 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 2 190.425.316 190.448.478 2582 SLC45A2 solute carrier family 45, member 2 5 33.944.721 33.984.780 2583 SLC46A1 solute carrier family 46 (folate transporter), member 1 17 26.721.661 26.733.230 2584 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood 17 42.325.758 42.351.654 group) 2585 SLC4A11 solute carrier family 4, sodium borate transporter, member 11 20 3.208.063 3.222.109 2586 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), 4 72.053.003 72.437.804 member 4 2587 SLC52A2 solute carrier family 52 (riboflavin transporter), member 2 8 145.582.217 145.584.946 2588 SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 20 740.724 756.628 2589 SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 22 32.439.019 32.509.016

2590 SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 16 31.494.439 31.502.091

2591 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 19 17.982.641 18.005.983 2592 SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 2 108.602.979 108.630.663

2593 SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 3 11.034.420 11.080.935 2594 SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 5 1.201.710 1.225.232 19 2595 SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2 16 55.689.542 55.740.104 2596 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 3 45.796.941 45.838.039 2597 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 5 1.392.905 1.445.543 2598 SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 11 20.620.946 20.676.610 2599 SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 X 152.953.752 152.962.048 2600 SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L 14 23.242.431 23.289.020 system), member 7 2601 SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ 19 33.321.417 33.360.683 system), member 9 2602 SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton 17 72.744.751 72.765.499 antiporter 3), member 3 regulator 1 2603 SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton X 135.067.583 135.129.428 antiporter 6), member 6 2604 SLCO1B1 solute carrier organic anion transporter family, member 1B1 12 21.284.128 21.392.730 2605 SLCO1B3 solute carrier organic anion transporter family, member 1B3 12 20.963.638 21.070.019 2606 SLCO2A1 solute carrier organic anion transporter family, member 2A1 3 133.651.540 133.748.920 2607 SLITRK1 SLIT and NTRK-like family, member 1 13 84.451.340 84.456.528 2608 SLITRK6 SLIT and NTRK-like family, member 6 13 86.366.922 86.373.483 2609 SLURP1 secreted LY6/PLAUR domain containing 1 8 143.822.362 143.823.829 2610 SLX4 SLX4 structure-specific endonuclease subunit 16 3.631.182 3.661.585 2611 SMAD3 SMAD family member 3 15 67.358.036 67.487.533 2612 SMAD4 SMAD family member 4 18 48.556.583 48.611.412 2613 SMAD6 SMAD family member 6 15 66.994.674 67.074.338 2614 SMAD9 SMAD family member 9 13 37.418.968 37.494.409 2615 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of 9 2.015.342 2.193.624 chromatin, subfamily a, member 2 2616 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of 19 11.071.598 11.172.958 chromatin, subfamily a, member 4 2617 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of 4 95.128.759 95.212.443 chromatin, subfamily a, containing DEAD/H box 1 2618 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of 2 217.277.137 217.347.776 chromatin, subfamily a-like 1 2619 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of 22 24.129.150 24.176.705 chromatin, subfamily b, member 1 2620 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of 17 38.781.214 38.805.658 chromatin, subfamily e, member 1 2621 SMC1A structural maintenance of chromosomes 1A X 53.401.070 53.449.677 2622 SMC3 structural maintenance of chromosomes 3 10 112.327.449 112.364.392 2623 SMCHD1 structural maintenance of chromosomes flexible hinge domain 18 2.655.886 2.805.015 containing 1 2624 SMN1 survival of motor neuron 1, telomeric 5 70.220.768 70.248.839 2625 SMOC1 SPARC related modular calcium binding 1 14 70.346.105 70.499.083 2626 SMOC2 SPARC related modular calcium binding 2 6 168.841.831 169.068.674 2627 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 6.411.644 6.416.228 2628 SMPX small muscle protein, X-linked X 21.724.090 21.776.278 2629 SMS spermine synthase X 21.958.691 22.025.798 2630 SNAI2 snail family zinc finger 2 8 49.830.236 49.833.999 2631 SNAP29 synaptosomal-associated protein, 29kDa 22 21.213.292 21.245.502 2632 SNCA synuclein, alpha (non A4 component of amyloid precursor) 4 90.645.250 90.759.447 2633 SNCB synuclein, beta 5 176.047.210 176.057.557 2634 SNIP1 Smad nuclear interacting protein 1 1 38.000.050 38.019.945 2635 SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) 2 96.940.074 96.971.307 2636 SNRPE small nuclear ribonucleoprotein polypeptide E 1 203.830.740 203.840.280 2637 SNRPN small nuclear ribonucleoprotein polypeptide N 15 25.068.794 25.223.730 2638 SNTA1 syntrophin, alpha 1 20 31.995.763 32.031.698 2639 SNX10 sorting nexin 10 7 26.331.515 26.413.949 2640 SOBP sine oculis binding protein homolog (Drosophila) 6 107.811.317 107.982.513 2641 SOD1 superoxide dismutase 1, soluble 21 33.031.935 33.041.244 2642 SOS1 son of sevenless homolog 1 (Drosophila) 2 39.208.690 39.347.686 2643 SOST sclerostin 17 41.831.099 41.836.156 2644 SOX10 SRY (sex determining region Y)-box 10 22 38.368.319 38.380.556 2645 SOX17 SRY (sex determining region Y)-box 17 8 55.370.495 55.373.456 2646 SOX18 SRY (sex determining region Y)-box 18 20 62.679.079 62.680.979 2647 SOX2 SRY (sex determining region Y)-box 2 3 181.429.712 181.432.224 2648 SOX3 SRY (sex determining region Y)-box 3 X 139.585.152 139.587.225 2649 SOX9 SRY (sex determining region Y)-box 9 17 70.117.161 70.122.561 2650 SP110 SP110 nuclear body protein 2 231.033.634 231.090.444 2651 SP7 Sp7 transcription factor 12 53.720.359 53.730.167 2652 SPAG1 sperm associated antigen 1 8 101.170.263 101.254.132 2653 SPAST spastin 2 32.288.660 32.382.706 2654 SPATA16 spermatogenesis associated 16 3 172.607.147 172.859.058 2655 SPATA7 spermatogenesis associated 7 14 88.851.982 88.904.804 2656 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1- 22 24.666.785 24.813.708 like 2657 SPG11 spastic paraplegia 11 (autosomal recessive) 15 44.854.894 44.955.876 2658 SPG20 spastic paraplegia 20 (Troyer syndrome) 13 36.875.775 36.944.317 2659 SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) 15 65.255.363 65.282.251 2660 SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 16 89.574.802 89.624.174 2661 SPINK1 serine peptidase inhibitor, Kazal type 1 5 147.204.143 147.218.794 2662 SPINK5 serine peptidase inhibitor, Kazal type 5 5 147.443.535 147.516.925 2663 SPINT2 serine peptidase inhibitor, Kunitz type, 2 19 38.755.098 38.783.254 2664 SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ 2 73.114.512 73.119.289 oxidoreductase) 2665 SPRED1 sprouty-related, EVH1 domain containing 1 15 38.544.925 38.649.450 2666 SPRY4 sprouty homolog 4 (Drosophila) 5 141.689.992 141.704.620 2667 SPTA1 spectrin, alpha, erythrocytic 1 1 158.580.496 158.656.506 2668 SPTAN1 spectrin, alpha, non-erythrocytic 1 9 131.314.837 131.395.944 2669 SPTB spectrin, beta, erythrocytic 14 65.213.001 65.346.604 2670 SPTBN2 spectrin, beta, non-erythrocytic 2 11 66.449.967 66.496.716 2671 SPTLC1 serine palmitoyltransferase, long chain base subunit 1 9 94.793.416 94.877.756 2672 SPTLC2 serine palmitoyltransferase, long chain base subunit 2 14 77.972.340 78.083.110 2673 SQSTM1 sequestosome 1 5 179.233.388 179.265.078 2674 SRCAP Snf2-related CREBBP activator protein 16 30.709.571 30.751.450 2675 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha- 2 31.749.656 31.806.040 steroid delta 4-dehydrogenase alpha 2) 2676 SRD5A3 steroid 5 alpha-reductase 3 4 56.212.388 56.239.267 2677 SRP72 signal recognition particle 72kDa 4 57.333.370 57.369.847 2678 SRPX2 sushi-repeat containing protein, X-linked 2 X 99.899.163 99.926.296 2679 SRY sex determining region Y Y 2.654.896 2.655.782 2680 SSTR5 somatostatin receptor 5 16 1.122.756 1.131.454 2681 SSX1 synovial sarcoma, X breakpoint 1 X 48.114.752 48.126.879 2682 SSX2 synovial sarcoma, X breakpoint 2 X 52.725.946 52.736.277 2683 ST14 suppression of tumorigenicity 14 (colon carcinoma) 11 130.029.682 130.080.257 2684 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 1 44.173.204 44.396.837 2685 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 2 86.066.271 86.116.157 2686 STAB2 stabilin 2 12 103.981.069 104.160.502 2687 STAC3 SH3 and cysteine rich domain 3 12 57.637.241 57.644.971 2688 STAG1 stromal antigen 1 3 136.055.077 136.471.245 2689 STAMBP STAM binding protein 2 74.056.043 74.100.783 2690 STAR steroidogenic acute regulatory protein 8 38.000.218 38.008.783 2691 STAT1 signal transducer and activator of transcription 1, 91kDa 2 191.833.762 191.878.976 2692 STAT3 signal transducer and activator of transcription 3 (acute-phase 17 40.465.342 40.540.586 response factor) 2693 STAT4 signal transducer and activator of transcription 4 2 191.894.302 192.037.404 2694 STAT5B signal transducer and activator of transcription 5B 17 40.351.195 40.428.478 2695 STEAP3 STEAP family member 3, metalloreductase 2 119.981.384 120.023.228 2696 STIL SCL/TAL1 interrupting locus 1 47.715.811 47.779.819 2697 STIM1 stromal interaction molecule 1 11 3.876.933 4.114.440 2698 STK11 serine/threonine kinase 11 19 1.205.798 1.228.434 2699 STK4 serine/threonine kinase 4 20 43.595.120 43.708.600 2700 STOM stomatin 9 124.101.266 124.132.582 2701 STOX1 storkhead box 1 10 70.587.294 70.655.209 2702 STRA6 stimulated by retinoic acid 6 15 74.471.802 74.502.046 2703 STRADA STE20-related kinase adaptor alpha 17 61.780.192 61.819.330 2704 STRC stereocilin 15 43.891.685 44.002.286 2705 STS steroid sulfatase (microsomal), isozyme S X 7.065.298 7.272.682 2706 STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 11 125.462.690 125.492.654

2707 STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 3 31.574.130 31.677.556

2708 STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin 16 730.115 732.768 protein ligase 2709 STX11 syntaxin 11 6 144.461.770 144.513.076 2710 STX16 syntaxin 16 20 57.226.309 57.254.582 2711 STXBP1 syntaxin binding protein 1 9 130.374.486 130.454.995 2712 STXBP2 syntaxin binding protein 2 19 7.701.987 7.712.760 2713 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 13 48.516.791 48.612.125 2714 SUCLG1 succinate-CoA ligase, alpha subunit 2 84.650.647 84.686.586 2715 SUFU suppressor of fused homolog (Drosophila) 10 104.263.719 104.393.214 2716 SUMF1 sulfatase modifying factor 1 3 4.402.829 4.508.966 2717 SUMO1 small ubiquitin-like modifier 1 2 203.070.903 203.103.322 2718 SUOX sulfite oxidase 12 56.391.043 56.399.309 2719 SURF1 surfeit 1 9 136.218.660 136.223.361 2720 SYCP3 synaptonemal complex protein 3 12 102.122.426 102.133.474 2721 SYN1 synapsin I X 47.431.300 47.479.256 2722 SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein 6 86.317.502 86.353.568 2723 SYNE1 spectrin repeat containing, nuclear envelope 1 6 152.442.819 152.958.534 2724 SYNE2 spectrin repeat containing, nuclear envelope 2 14 64.319.683 64.693.167 2725 SYNE4 spectrin repeat containing, nuclear envelope family member 4 19 36.494.002 36.499.958 2726 SYNGAP1 synaptic Ras GTPase activating protein 1 6 33.387.847 33.421.466 2727 SYNJ1 synaptojanin 1 21 33.997.269 34.100.351 2728 SYP synaptophysin X 49.044.263 49.056.661 2729 SYT14 synaptotagmin XIV 1 210.111.519 210.337.636 2730 SZT2 seizure threshold 2 homolog (mouse) 1 43.855.556 43.919.918 2731 TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 6 149.639.436 149.732.747 2732 TAC3 tachykinin 3 12 57.403.781 57.410.344 2733 TACO1 translational activator of mitochondrially encoded cytochrome c 17 61.678.231 61.685.725 oxidase I 2734 TACR3 tachykinin receptor 3 4 104.510.625 104.640.973 2735 TACSTD2 tumor-associated calcium signal transducer 2 1 59.041.095 59.043.166 2736 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)- X 70.586.094 70.685.855 associated factor, 250kDa 2737 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)- 17 34.136.459 34.174.246 associated factor, 68kDa 2738 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)- 8 120.743.014 120.845.074 associated factor, 150kDa 2739 TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)- X 100.523.241 100.548.059 associated factor, 50kDa 2740 TAL1 T-cell acute lymphocytic leukemia 1 1 47.681.962 47.697.938 2741 TALDO1 transaldolase 1 11 747.417 765.024 2742 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 17 61.043.913 61.505.067 2 2743 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 6 32.812.986 32.821.748 2744 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 6 32.789.610 32.806.547 2745 TAPBP TAP binding protein (tapasin) 6 33.267.471 33.282.164 2746 TARDBP TAR DNA binding protein 1 11.072.462 11.085.549 2747 TAT tyrosine aminotransferase 16 71.600.754 71.610.998 2748 TAZ tafazzin X 153.639.877 153.650.065 2749 TBC1D20 TBC1 domain family, member 20 20 416.124 443.187 2750 TBC1D24 TBC1 domain family, member 24 16 2.525.146 2.555.734 2751 TBC1D7 TBC1 domain family, member 7 6 13.305.183 13.328.787 2752 TBCE tubulin folding cofactor E 1 235.530.728 235.612.280 2753 TBP TATA box binding protein 6 170.863.384 170.881.958 2754 TBX1 T-box 1 22 19.744.226 19.771.116 2755 TBX15 T-box 15 1 119.425.666 119.532.179 2756 TBX19 T-box 19 1 168.250.278 168.283.664 2757 TBX20 T-box 20 7 35.242.042 35.293.711 2758 TBX21 T-box 21 17 45.810.610 45.823.485 2759 TBX22 T-box 22 X 79.270.255 79.287.268 2760 TBX3 T-box 3 12 115.108.059 115.121.969 2761 TBX4 T-box 4 17 59.529.134 59.562.471 2762 TBX5 T-box 5 12 114.791.735 114.846.247 2763 TBX6 T-box 6 16 30.097.114 30.103.258 2764 TBXAS1 thromboxane A synthase 1 (platelet) 7 139.478.047 139.720.125 2765 TCAP titin-cap 17 37.821.599 37.822.807 2766 TCF12 transcription factor 12 15 57.210.833 57.580.716 2767 TCF3 transcription factor 3 19 1.609.289 1.652.328 2768 TCF4 transcription factor 4 18 52.889.562 53.303.252 2769 TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 11 67.806.462 67.818.366 subunit A3 2770 TCL1A T-cell leukemia/lymphoma 1A 14 96.176.304 96.180.533 2771 TCN2 transcobalamin II 22 31.003.070 31.023.047 2772 TCOF1 Treacher Collins-Franceschetti syndrome 1 5 149.737.202 149.779.871 2773 TCTN1 tectonic family member 1 12 111.051.832 111.086.935 2774 TCTN2 tectonic family member 2 12 124.155.660 124.192.950 2775 TCTN3 tectonic family member 3 10 97.423.153 97.453.900 2776 TDGF1 teratocarcinoma-derived growth factor 1 3 46.616.045 46.623.953 2777 TDP1 tyrosyl-DNA phosphodiesterase 1 14 90.421.944 90.511.108 2778 TDRD7 tudor domain containing 7 9 100.174.302 100.258.407 2779 TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer 11 12.695.969 12.966.284 factor) 2780 TECPR2 tectonin beta-propeller repeat containing 2 14 102.829.300 102.968.818 2781 TECR trans-2,3-enoyl-CoA reductase 19 14.640.379 14.676.792 2782 TECTA tectorin alpha 11 120.973.375 121.062.202 2783 TEK TEK tyrosine kinase, endothelial 9 27.109.147 27.230.172 2784 TENM3 teneurin transmembrane protein 3 4 183.065.112 183.724.177 2785 TERC telomerase RNA component 3 169.482.398 169.482.848 2786 TERT telomerase reverse transcriptase 5 1.253.282 1.295.178 2787 TET2 tet methylcytosine dioxygenase 2 4 106.067.032 106.200.960 2788 TF transferrin 3 133.464.977 133.497.850 2789 TFAP2A transcription factor AP-2 alpha (activating enhancer binding 6 10.393.419 10.419.797 protein 2 alpha) 2790 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 6 50.786.439 50.815.326 2 beta) 2791 TFE3 transcription factor binding to IGHM enhancer 3 X 48.886.237 48.900.990 2792 TFG TRK-fused gene 3 100.428.128 100.467.811 2793 TFR2 transferrin receptor 2 7 100.218.039 100.240.332 2794 TG thyroglobulin 8 133.879.149 134.147.146 2795 TGFA transforming growth factor, alpha 2 70.674.412 70.781.147 2796 TGFB1 transforming growth factor, beta 1 19 41.836.812 41.859.831 2797 TGFB2 transforming growth factor, beta 2 1 218.518.676 218.617.961 2798 TGFB3 transforming growth factor, beta 3 14 76.424.440 76.449.334 2799 TGFBI transforming growth factor, beta-induced, 68kDa 5 135.364.584 135.399.507 2800 TGFBR1 transforming growth factor, beta receptor 1 9 101.867.412 101.916.474 2801 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 3 30.647.994 30.735.634 2802 TGIF1 TGFB-induced factor homeobox 1 18 3.411.925 3.458.409 2803 TGM1 transglutaminase 1 14 24.718.159 24.733.115 2804 TGM5 transglutaminase 5 15 43.524.793 43.559.055 2805 TGM6 transglutaminase 6 20 2.361.554 2.413.399 2806 TH tyrosine hydroxylase 11 2.185.159 2.193.107 2807 THAP1 THAP domain containing, apoptosis associated protein 1 8 42.691.817 42.698.474 2808 THBD thrombomodulin 20 23.026.270 23.030.301 2809 THOC2 THO complex 2 X 122.734.412 122.866.904 2810 THOC6 THO complex 6 homolog (Drosophila) 16 3.074.032 3.077.756 2811 THPO thrombopoietin 3 184.089.773 184.097.368 2812 THRA thyroid hormone receptor, alpha 17 38.218.446 38.250.120 2813 THRB thyroid hormone receptor, beta 3 24.158.644 24.536.772 2814 TIA1 TIA1 cytotoxic granule-associated RNA binding protein 2 70.436.576 70.475.886 2815 TICAM1 toll-like receptor adaptor molecule 1 19 4.815.936 4.831.754 2816 TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) X 100.575.548 100.603.957

2817 TIMP3 TIMP metallopeptidase inhibitor 3 22 33.196.802 33.259.028 2818 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 14 24.703.454 24.712.233 2819 TJP2 tight junction protein 2 9 71.714.875 71.870.124 2820 TK2 thymidine kinase 2, mitochondrial 16 66.541.906 66.584.315 2821 TLL1 tolloid-like 1 4 166.794.390 167.026.330 2822 TLR3 toll-like receptor 3 4 186.990.309 187.006.252 2823 TLX1 T-cell leukemia homeobox 1 10 102.891.061 102.897.546 2824 TMC1 transmembrane channel-like 1 9 75.136.717 75.451.267 2825 TMC6 transmembrane channel-like 6 17 76.108.999 76.128.488 2826 TMC8 transmembrane channel-like 8 17 76.125.505 76.139.049 2827 TMCO1 transmembrane and coiled-coil domains 1 1 165.693.528 165.738.159 2828 TMEM114 transmembrane protein 114 16 8.619.502 8.622.226 2829 TMEM126A transmembrane protein 126A 11 85.358.963 85.367.597 2830 TMEM135 transmembrane protein 135 11 86.748.886 87.039.876 2831 TMEM138 transmembrane protein 138 11 61.129.473 61.136.977 2832 TMEM165 transmembrane protein 165 4 56.262.080 56.292.342 2833 TMEM216 transmembrane protein 216 11 61.159.832 61.166.335 2834 TMEM231 transmembrane protein 231 16 75.572.015 75.590.184 2835 TMEM237 transmembrane protein 237 2 202.484.907 202.508.252 2836 TMEM43 transmembrane protein 43 3 14.166.440 14.185.180 2837 TMEM5 transmembrane protein 5 12 64.173.583 64.203.338 2838 TMEM67 transmembrane protein 67 8 94.767.072 94.831.462 2839 TMEM70 transmembrane protein 70 8 74.888.377 74.895.018 2840 TMIE transmembrane inner ear 3 46.742.823 46.752.413 2841 TMLHE trimethyllysine hydroxylase, epsilon X 154.718.672 154.842.622 2842 TMPO thymopoietin 12 98.909.351 98.944.157 2843 TMPRSS15 transmembrane protease, serine 15 21 19.641.433 19.775.970 2844 TMPRSS3 transmembrane protease, serine 3 21 43.791.996 43.816.955 2845 TMPRSS6 transmembrane protease, serine 6 22 37.461.476 37.499.693 2846 TNC tenascin C 9 117.781.854 117.880.536 2847 TNF tumor necrosis factor 6 31.543.344 31.546.113 2848 TNFRSF10B tumor necrosis factor receptor superfamily, member 10b 8 22.877.646 22.926.700 2849 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB 18 59.992.520 60.054.943 activator 2850 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 8 119.935.796 119.964.383 2851 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 17 16.842.398 16.875.432 2852 TNFRSF13C tumor necrosis factor receptor superfamily, member 13C 22 42.321.036 42.322.821 2853 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 12 6.437.923 6.451.283 2854 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 13 43.136.872 43.182.149 2855 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 17 7.452.375 7.461.207 2856 TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 1 173.152.870 173.176.471 2857 TNNC1 troponin C type 1 (slow) 3 52.485.107 52.488.057 2858 TNNI2 troponin I type 2 (skeletal, fast) 11 1.860.233 1.862.910 2859 TNNI3 troponin I type 3 (cardiac) 19 55.663.135 55.669.100 2860 TNNT1 troponin T type 1 (skeletal, slow) 19 55.644.161 55.660.752 2861 TNNT2 troponin T type 2 (cardiac) 1 201.328.136 201.346.836 2862 TNNT3 troponin T type 3 (skeletal, fast) 11 1.940.799 1.959.936 2863 TNPO2 transportin 2 19 12.810.008 12.834.838 2864 TNXB tenascin XB 6 32.008.932 32.077.151 2865 TOP2A topoisomerase (DNA) II alpha 170kDa 17 38.544.773 38.574.202 2866 TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein 9 32.540.542 32.552.626 ligase 2867 TOR1A torsin family 1, member A (torsin A) 9 132.575.221 132.586.441 2868 TP53 tumor protein p53 17 7.571.720 7.590.868 2869 TP63 tumor protein p63 3 189.348.942 189.615.068 2870 TPBG trophoblast glycoprotein 6 83.072.923 83.077.134 2871 TPI1 triosephosphate isomerase 1 12 6.976.288 6.980.110 2872 TPK1 thiamin pyrophosphokinase 1 7 144.149.034 144.533.488 2873 TPM1 tropomyosin 1 (alpha) 15 63.334.838 63.364.114 2874 TPM2 tropomyosin 2 (beta) 9 35.681.990 35.690.583 2875 TPM3 tropomyosin 3 1 154.127.780 154.164.611 2876 TPMT thiopurine S-methyltransferase 6 18.128.542 18.155.374 2877 TPO thyroid peroxidase 2 1.417.233 1.547.445 2878 TPP1 tripeptidyl peptidase I 11 6.633.997 6.640.692 2879 TPRN taperin 9 140.086.069 140.095.163 2880 TRAF3IP2 TRAF3 interacting protein 2 6 111.876.581 111.927.477 2881 TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase 11 36.505.317 36.531.863 2882 TRAPPC11 trafficking protein particle complex 11 4 184.580.420 184.634.747 2883 TRAPPC2 trafficking protein particle complex 2 X 13.730.361 13.752.754 2884 TRAPPC9 trafficking protein particle complex 9 8 140.740.324 141.468.678 2885 TRDN triadin 6 123.537.484 123.958.428 2886 TREH trehalase (brush-border membrane glycoprotein) 11 118.528.942 118.550.381 2887 TREM2 triggering receptor expressed on myeloid cells 2 6 41.126.244 41.130.924 2888 TREX1 three prime repair exonuclease 1 3 48.506.919 48.509.044 2889 TRH thyrotropin-releasing hormone 3 129.693.236 129.696.781 2890 TRHR thyrotropin-releasing hormone receptor 8 110.099.653 110.131.813 2891 TRIM2 tripartite motif containing 2 4 154.073.650 154.260.474 2892 TRIM24 tripartite motif containing 24 7 138.145.079 138.270.333 2893 TRIM32 tripartite motif containing 32 9 119.360.147 119.463.579 2894 TRIM33 tripartite motif containing 33 1 114.935.399 115.053.781 2895 TRIM37 tripartite motif containing 37 17 57.059.999 57.184.266 2896 TRIO trio Rho guanine nucleotide exchange factor 5 14.143.817 14.510.313 2897 TRIOBP TRIO and F-actin binding protein 22 38.092.995 38.172.563 2898 TRIP11 thyroid hormone receptor interactor 11 14 92.434.243 92.506.484 2899 TRMT1 tRNA methyltransferase 1 homolog (S. cerevisiae) 19 13.215.714 13.227.573 2900 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 22 46.731.298 46.753.237 2901 TRPA1 transient receptor potential cation channel, subfamily A, member 8 72.933.486 72.987.819 1 2902 TRPC6 transient receptor potential cation channel, subfamily C, member 11 101.322.295 101.454.687 6 2903 TRPM1 transient receptor potential cation channel, subfamily M, member 15 31.293.264 31.453.476 1 2904 TRPM4 transient receptor potential cation channel, subfamily M, member 19 49.661.016 49.715.098 4 2905 TRPM6 transient receptor potential cation channel, subfamily M, member 9 77.337.411 77.503.010 6 2906 TRPS1 trichorhinophalangeal syndrome I 8 116.420.724 116.713.299 2907 TRPV3 transient receptor potential cation channel, subfamily V, member 17 3.413.796 3.461.289 3 2908 TRPV4 transient receptor potential cation channel, subfamily V, member 12 110.220.892 110.271.212 4 2909 TSC1 tuberous sclerosis 1 9 135.766.735 135.820.094 2910 TSC2 tuberous sclerosis 2 16 2.097.472 2.138.713 2911 TSEN2 TSEN2 tRNA splicing endonuclease subunit 3 12.517.748 12.580.672 2912 TSEN34 TSEN34 tRNA splicing endonuclease subunit 19 54.694.112 54.698.394 2913 TSEN54 TSEN54 tRNA splicing endonuclease subunit 17 73.512.609 73.520.821 2914 TSFM Ts translation elongation factor, mitochondrial 12 58.176.528 58.196.639 2915 TSG101 tumor susceptibility 101 11 18.501.858 18.548.503 2916 TSHB thyroid stimulating hormone, beta 1 115.572.445 115.576.930 2917 TSHR thyroid stimulating hormone receptor 14 81.421.333 81.612.646 2918 TSHZ1 teashirt zinc finger homeobox 1 18 72.922.710 73.001.905 2919 TSPAN12 tetraspanin 12 7 120.427.374 120.498.420 2920 TSPAN7 tetraspanin 7 X 38.420.731 38.548.172 2921 TSPEAR thrombospondin-type laminin G domain and EAR repeats 21 45.917.775 46.131.495 2922 TSPYL1 TSPY-like 1 6 116.596.022 116.601.280 2923 TST thiosulfate sulfurtransferase (rhodanese) 22 37.406.900 37.416.224 2924 TTBK2 tau tubulin kinase 2 15 43.030.928 43.213.037 2925 TTC19 tetratricopeptide repeat domain 19 17 15.902.694 15.932.723 2926 TTC21B tetratricopeptide repeat domain 21B 2 166.729.872 166.810.348 2927 TTC37 tetratricopeptide repeat domain 37 5 94.799.599 94.890.709 2928 TTC8 tetratricopeptide repeat domain 8 14 89.290.574 89.344.335 2929 TTI2 TELO2 interacting protein 2 8 33.356.027 33.370.703 2930 TTN titin 2 179.390.716 179.672.150 2931 TTPA tocopherol (alpha) transfer protein 8 63.972.047 63.998.612 2932 TTR transthyretin 18 29.171.730 29.178.987 2933 TUBA1A tubulin, alpha 1a 12 49.578.578 49.583.107 2934 TUBA8 tubulin, alpha 8 22 18.593.453 18.614.498 2935 TUBB1 tubulin, beta 1 class VI 20 57.594.309 57.601.709 2936 TUBB2B tubulin, beta 2B class IIb 6 3.224.495 3.227.968 2937 TUBB3 tubulin, beta 3 class III 16 89.988.417 90.002.505 2938 TUBB4A tubulin, beta 4A class IVa 19 6.494.330 6.502.595 2939 TUBG1 tubulin, gamma 1 17 40.761.358 40.767.256 2940 TUBGCP6 tubulin, gamma complex associated protein 6 22 50.656.118 50.683.453 2941 TUFM Tu translation elongation factor, mitochondrial 16 28.853.732 28.857.729 2942 TULP1 tubby like protein 1 6 35.465.651 35.480.715 2943 TUSC3 tumor suppressor candidate 3 8 15.397.596 15.624.158 2944 TWIST1 twist family bHLH transcription factor 1 7 19.039.315 19.157.295 2945 TWIST2 twist family bHLH transcription factor 2 2 239.756.673 239.795.893 2946 TWIST2 twist family bHLH transcription factor 2 2 239.831.979 239.832.237 2947 TXNRD2 thioredoxin reductase 2 22 19.863.040 19.929.359 2948 TYK2 tyrosine kinase 2 19 10.461.204 10.491.248 2949 TYMP thymidine phosphorylase 22 50.964.181 50.968.514 2950 TYR tyrosinase 11 88.911.040 89.028.927 2951 TYROBP TYRO protein tyrosine kinase binding protein 19 36.395.303 36.399.211 2952 TYRP1 tyrosinase-related protein 1 9 12.693.385 12.710.285 2953 UBA1 ubiquitin-like modifier activating enzyme 1 X 47.050.199 47.074.527 2954 UBB ubiquitin B 17 16.284.367 16.286.059 2955 UBE2A ubiquitin-conjugating enzyme E2A X 118.708.499 118.718.381 2956 UBE3A ubiquitin protein ligase E3A 15 25.582.394 25.684.190 2957 UBE3B ubiquitin protein ligase E3B 12 109.915.215 109.974.510 2958 UBIAD1 UbiA prenyltransferase domain containing 1 1 11.333.255 11.348.491 2959 UBQLN2 ubiquilin 2 X 56.590.025 56.593.443 2960 UBR1 ubiquitin protein ligase E3 component n-recognin 1 15 43.235.095 43.398.286 2961 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 14 93.673.401 93.695.561 2962 UFD1L ubiquitin fusion degradation 1 like (yeast) 22 19.437.464 19.466.818 2963 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 2 234.668.919 234.681.945 2964 UMOD uromodulin 16 20.344.373 20.364.200 2965 UMPS uridine monophosphate synthetase 3 124.449.213 124.468.120 2966 UNC119 unc-119 homolog (C. elegans) 17 26.873.725 26.879.647 2967 UNC13D unc-13 homolog D (C. elegans) 17 73.823.306 73.840.798 2968 UNC93B1 unc-93 homolog B1 (C. elegans) 11 67.758.575 67.771.593 2969 UNG uracil-DNA glycosylase 12 109.535.399 109.548.798 2970 UPB1 ureidopropionase, beta 22 24.863.344 24.922.553 2971 UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) X 118.941.115 118.986.991 2972 UPK3A uroplakin 3A 22 45.680.868 45.691.755 2973 UQCRB ubiquinol-cytochrome c reductase binding protein 8 97.238.904 97.247.862 2974 UQCRC2 ubiquinol-cytochrome c reductase core protein II 16 21.964.609 21.994.668 2975 UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa 5 132.202.319 132.204.536

2976 UROC1 urocanate hydratase 1 3 126.200.008 126.236.616 2977 UROD uroporphyrinogen decarboxylase 1 45.477.805 45.481.341 2978 UROS uroporphyrinogen III synthase 10 127.474.091 127.511.837 2979 USB1 U6 snRNA biogenesis 1 16 58.033.450 58.055.527 2980 USH1C Usher syndrome 1C (autosomal recessive, severe) 11 17.515.442 17.565.963 2981 USH1G Usher syndrome 1G (autosomal recessive) 17 72.912.176 72.919.351 2982 USH2A Usher syndrome 2A (autosomal recessive, mild) 1 215.796.236 216.596.738 2983 USP9Y ubiquitin specific peptidase 9, Y-linked Y 14.813.160 14.972.768 2984 UVSSA UV-stimulated scaffold protein A 4 1.341.043 1.381.837 2985 VANGL1 VANGL planar cell polarity protein 1 1 116.184.574 116.240.845 2986 VAPB VAMP (vesicle-associated membrane protein)-associated protein B 20 56.964.175 57.026.157 and C 2987 VAX1 ventral anterior homeobox 1 10 118.888.032 118.897.812 2988 VCAN versican 5 82.767.493 82.878.122 2989 VCL vinculin 10 75.757.836 75.879.918 2990 VCP valosin containing protein 9 35.056.065 35.072.739 2991 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor 12 48.235.320 48.298.814 2992 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 3 10.183.319 10.195.354 2993 VIM vimentin 10 17.269.934 17.279.592 2994 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, 14 77.893.018 77.923.983 spe-39 homolog 2995 VKORC1 vitamin K epoxide reductase complex, subunit 1 16 31.102.175 31.106.699 2996 VLDLR very low density lipoprotein receptor 9 2.621.679 2.654.485 2997 VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) 9 79.792.269 80.032.399 2998 VPS13B vacuolar protein sorting 13 homolog B (yeast) 8 100.025.299 100.890.447 2999 VPS33B vacuolar protein sorting 33 homolog B (yeast) 15 91.541.774 91.565.833 3000 VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) 16 46.693.589 46.723.144 3001 VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) 8 17.104.401 17.155.533 3002 VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) 1 150.039.350 150.117.505 3003 VRK1 vaccinia related kinase 1 14 97.263.684 97.347.951 3004 VSX1 visual system homeobox 1 20 25.051.521 25.063.015 3005 VSX2 visual system homeobox 2 14 74.706.175 74.729.441 3006 VTI1A vesicle transport through interaction with t-SNAREs 1A 10 114.206.756 114.578.503 3007 VWF von Willebrand factor 12 6.058.040 6.233.836 3008 WAC WW domain containing adaptor with coiled-coil 10 28.821.355 28.912.041 3009 WAS Wiskott-Aldrich syndrome X 48.542.186 48.549.818 3010 WDPCP WD repeat containing planar cell polarity effector 2 63.348.518 63.815.867 3011 WDR11 WD repeat domain 11 10 122.610.687 122.669.038 3012 WDR19 WD repeat domain 19 4 39.184.024 39.287.430 3013 WDR35 WD repeat domain 35 2 20.110.024 20.189.884 3014 WDR36 WD repeat domain 36 5 110.427.870 110.466.200 3015 WDR45 WD repeat domain 45 X 48.932.092 48.958.059 3016 WDR45B WD repeat domain 45B 17 80.572.438 80.606.411 3017 WDR60 WD repeat domain 60 7 158.649.269 158.738.883 3018 WDR62 WD repeat domain 62 19 36.545.783 36.596.012 3019 WDR72 WD repeat domain 72 15 53.805.938 54.055.075 3020 WDR81 WD repeat domain 81 17 1.619.817 1.641.893 3021 WFS1 Wolfram syndrome 1 (wolframin) 4 6.271.577 6.304.992 3022 WHSC1 Wolf-Hirschhorn syndrome candidate 1 4 1.873.123 1.983.934 3023 WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 8 38.127.217 38.239.872 3024 WIPF1 WAS/WASL interacting protein family, member 1 2 175.424.302 175.547.667 3025 WISP3 WNT1 inducible signaling pathway protein 3 6 112.375.278 112.390.889 3026 WNK1 WNK lysine deficient protein kinase 1 12 861.759 1.020.618 3027 WNK4 WNK lysine deficient protein kinase 4 17 40.932.632 40.949.084 3028 WNT1 wingless-type MMTV integration site family, member 1 12 49.372.236 49.376.396 3029 WNT10A wingless-type MMTV integration site family, member 10A 2 219.745.255 219.758.651 3030 WNT10B wingless-type MMTV integration site family, member 10B 12 49.359.123 49.365.641 3031 WNT3 wingless-type MMTV integration site family, member 3 17 44.839.872 44.896.126 3032 WNT3A wingless-type MMTV integration site family, member 3A 1 228.194.723 228.248.972 3033 WNT4 wingless-type MMTV integration site family, member 4 1 22.443.798 22.470.474 3034 WNT5A wingless-type MMTV integration site family, member 5A 3 55.499.743 55.521.670 3035 WNT7A wingless-type MMTV integration site family, member 7A 3 13.860.082 13.921.618 3036 WRAP53 WD repeat containing, antisense to TP53 17 7.589.389 7.606.820 3037 WRN Werner syndrome, RecQ helicase-like 8 30.890.778 31.031.277 3038 WT1 Wilms tumor 1 11 32.408.789 32.457.104 3039 WWOX WW domain containing oxidoreductase 16 78.133.310 79.246.567 3040 XDH xanthine dehydrogenase 2 31.557.188 31.637.611 3041 XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase X 122.993.662 123.047.829 3042 XIST X inactive specific transcript (non-protein coding) X 73.040.486 73.072.588 3043 XK X-linked Kx blood group X 37.545.133 37.591.383 3044 XPA xeroderma pigmentosum, complementation group A 9 100.437.191 100.459.691 3045 XPC xeroderma pigmentosum, complementation group C 3 14.186.647 14.220.172 3046 XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial 22 41.253.085 41.328.823 3047 YAP1 Yes-associated protein 1 11 101.981.151 102.104.154 3048 YARS tyrosyl-tRNA synthetase 1 33.240.840 33.283.633 3049 YARS2 tyrosyl-tRNA synthetase 2, mitochondrial 12 32.878.195 32.908.895 3050 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa 2 98.330.031 98.356.990 3051 ZBTB16 zinc finger and BTB domain containing 16 11 113.930.289 114.126.702 3052 ZBTB18 zinc finger and BTB domain containing 18 1 244.212.241 244.220.778 3053 ZBTB24 zinc finger and BTB domain containing 24 6 109.783.719 109.804.440 3054 ZBTB40 zinc finger and BTB domain containing 40 1 22.778.344 22.857.650 3055 ZC4H2 zinc finger, C4H2 domain containing X 64.135.682 64.254.624 3056 ZCCHC12 zinc finger, CCHC domain containing 12 X 117.957.787 117.960.931 3057 ZCCHC8 zinc finger, CCHC domain containing 8 12 122.956.146 122.985.543 3058 ZDHHC15 zinc finger, DHHC-type containing 15 X 74.588.262 74.743.337 3059 ZDHHC9 zinc finger, DHHC-type containing 9 X 128.937.264 128.977.910 3060 ZEB1 zinc finger E-box binding homeobox 1 10 31.607.825 31.818.742 3061 ZEB2 zinc finger E-box binding homeobox 2 2 145.141.942 145.277.958 3062 ZFHX4 zinc finger homeobox 4 8 77.593.515 77.779.521 3063 ZFP57 ZFP57 zinc finger protein 6 29.640.169 29.644.931 3064 ZFPM2 zinc finger protein, FOG family member 2 8 106.330.917 106.816.767 3065 ZFX zinc finger protein, X-linked X 24.167.047 24.234.372 3066 ZFY zinc finger protein, Y-linked Y 2.803.112 2.850.547 3067 ZFYVE26 zinc finger, FYVE domain containing 26 14 68.213.237 68.283.306 3068 ZFYVE27 zinc finger, FYVE domain containing 27 10 99.496.878 99.520.664 3069 ZIC2 Zic family member 2 13 100.634.026 100.639.019 3070 ZIC3 Zic family member 3 X 136.648.346 136.654.259 3071 ZMPSTE24 zinc metallopeptidase STE24 1 40.723.722 40.759.856 3072 ZMYM3 zinc finger, MYM-type 3 X 70.459.474 70.475.047 3073 ZMYM6 zinc finger, MYM-type 6 1 35.451.766 35.497.569 3074 ZMYND10 zinc finger, MYND-type containing 10 3 50.378.537 50.383.459 3075 ZNF141 zinc finger protein 141 4 331.417 370.076 3076 ZNF335 zinc finger protein 335 20 44.577.292 44.601.560 3077 ZNF33A zinc finger protein 33A 10 38.299.578 38.353.946 3078 ZNF35 zinc finger protein 35 3 44.690.108 44.702.283 3079 ZNF41 zinc finger protein 41 X 47.305.281 47.343.070 3080 ZNF423 zinc finger protein 423 16 49.524.515 49.891.830 3081 ZNF469 zinc finger protein 469 16 88.493.879 88.507.165 3082 ZNF513 zinc finger protein 513 2 27.600.098 27.603.733 3083 ZNF526 zinc finger protein 526 19 42.724.492 42.732.353 3084 ZNF592 zinc finger protein 592 15 85.291.818 85.349.663 3085 ZNF644 zinc finger protein 644 1 91.380.855 91.487.812 3086 ZNF674 zinc finger protein 674 X 46.357.160 46.404.892 3087 ZNF711 zinc finger protein 711 X 84.498.826 84.528.368 3088 ZNF750 zinc finger protein 750 17 80.787.310 80.797.931 3089 ZNF81 zinc finger protein 81 X 47.696.270 47.781.655