Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 1 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 600994 Deafness, autosomal dominant 5 Deafness, autosomal dominant 5 (3) 000 604392 Arylhydrocarbon-interacting receptor Leber congenital amaurosis, 604393 (3) 010 protein-like 1 154500 Treacher Collins-Franceschetti syndrome-1 Treacher Collins mandibulofacial 011 (TREACLE) dysostosis (3) 301200 Amelogenin Amelogenesis imperfecta (3) 010 309000 Oculocerebrorenal syndrome of Lowe Lowe syndrome (3) 02 300500 Ocular albinism-1, Nettleship-Falls type Ocular albinism, Nettleship-Falls type (3) 02 300031 Fragile site, folic acid type, rare, fra(X)(q28) Mental retardation, X-linked, FRAXF type 020 (3) 180090 Retinaldehyde-binding protein-1, cellular Retinitis pigmentosa, autosomal recessive 030 (3) 604365 Prominin, mouse, homolog-like 1 Retinal degeneration, autosomal recessive, 030 prominin-related (3) 602280 Tubby-like protein-1 Retinitis pigmentosa-14, 600132 (3) 030 603937 Oxygen-regulated photoreceptor protein-1 Retinitis pigmentosa-1, 180100 (3) 030 (retinitis pigmentosa-1) 153700 Vitelliform macular dystrophy (Best Macular dystrophy, vitelliform type (3) 030 disease) 601652 Myocilin (trabecular meshwork-induced Glaucoma 1A, primary open angle, juvenile- 030 glucocorticoid response protein) onset, 137750 (3); Glaucoma 1A, primary open angle, recessive (3) 142640 Histidine-rich glycoprotein Thrombophilia due to HRG deficiency (3); 040 ?Thrombophilia due to elevated HRG (1) 603904 Integral membrane protein 2B (BRI gene) Dementia, familial British, 176500 (3); 040 Dementia, familial Danish, 117300 (3) 163890 Synuclein, alpha (non A4 component of Parkinson disease, type 1, 601508 (3) 040 amyloid precursor) 137290 Membrane component, chromosome 1, Corneal dystrophy, gelatinous drop-like, 050 surface marker 1 (40kD glycoprotein, 204870 (3) identified by monoclonal antibody GA733) 601517 Ataxin-2 Spinocerebellar ataxia-2, 183090 (3) 030 162200 Neurofibromin (neurofibromatosis, type I) Neurofibromatosis, type 1 (3); Watson 03 syndrome, 193520 (3); Leukemia, juvenile myelomonocytic (3) 235200 Hemochromatosis Hemochromatosis (3); Porphyria variegata, 040 176200 (3) 240300 Autoimmune regulator Autoimmune polyglandular disease, type I 040 (3) 173910 Polycystin-2 Polycystic kidney disease, adult, type II (3) 040 602452 Budding uninhibited by benzimidazoles 1, Colorectal cancer with chromosomal 050 S. cerevisiae, homolog of (mitotic instability (3) checkpoint gene BUB1) 602117 Necdin Prader-Willi syndrome, 176270 (3) 011 219800 Cystinosis Cystinosis, nephropathic (3) 020 256731 Ceroid-lipofuscinosis, neuronal-5 Ceroid-lipofuscinosis, neuronal-5, variant 030 late infantile (3) 253800 Fukuyama congenital muscular dystrophy Muscular dystrophy, Fukuyama congenital 031 (3); ?Walker-Warburg syndrome, 236670 (2) 208900 Ataxia-telangiectasia mutated (includes Ataxia-telangiectasia (3); T-cell 030 complementation groups A, C, D, and E) prolymphocytic leukemia, sporadic (3); Lymphoma, B-cell non-Hodgkin, somatic (3); {Breast cancer, susceptibility to} (3); Lymphoma, mantel cell (3) 229300 Frataxin Friedreich ataxia (3); Friedreich ataxia with 030 retained reflexes (2) 156570 5-methyltetrahydrofolate-homocysteine Methylcobalamin deficiency, cbl G type (3) 03 methyltransferase 1 222300 Wolframin Wolfram syndrome (3) 030 256100 Nephronophthisis-1 gene Nephronophthisis, juvenile (3) 030 190080 Avian myelocytomatosis viral (v-myc) Burkitt lymphoma, 113970 (3) 030 oncogene homolog 191100 Tuberous sclerosis-1 Tuberous sclerosis-1 (3) 030 603009 Dysferlin Muscular dystrophy, limb-girdle, type 2B, 040 253601 (3); Miyoshi myopathy, 254130 (3); Myopathy, distal, with anterior tibial onset (3) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 2 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 164500 Spinocerebellar ataxia 7 Spinocerebellar ataxia-7 (3) 040 (olivopontocerebellar atrophy with retinal degeneration) 605018 Cylindromatosis gene Cylindromatosis, familial, 132700 (3) 040 601556 Ataxin-1 Spinocerebellar ataxia-1, 164400 (3) 0 4 191092 Tuberous sclerosis-2 (tuberin) Tuberous sclerosis-2 (3) 040 193300 von Hippel-Lindau syndrome von Hippel-Lindau syndrome (3); Renal cell 040 carcinoma (3) 170993 Peroxisomal membrane protein-3, 35kD Zellweger syndrome-3 (3); Refsum 011 disease, infantile form, 266510 (3) 604831 Ellis-van Creveld syndrome gene Ellis-van Creveld syndrome, 225500 (3); 011 Weyers acrodental dysostosis, 193530 (3) 214500 Lysosomal trafficking regulator Chediak-Higashi syndrome (3) 020 600354 Survival of motor neuron 1, telomeric Spinal muscular atrophy-1, 253300 (3); 020 Spinal muscular atrophy-2, 253550 (3); Spinal muscular atrophy-3, 253400 (3) 185620 Surfeit-1 Leigh syndrome, due to COX deficiency, 020 256000 (3) 257220 Niemann-Pick disease, type C Niemann-Pick disease, type C1 (3); 02 Niemann-Pick disease, type D, 257250 (3) 600005 MHC class II transactivator MHC class II deficiency, complementation 020 group A, 209920 (3) 156490 Non-metastatic cells 1, protein (NM23A) Neuroblastoma (3) 02 expressed in 204200 Ceroid-lipofuscinosis, neuronal-3, juvenile Ceroid-lipofuscinosis, neuronal-3, juvenile 030 (Batten disease) (3) 216400 Cockayne syndrome 1, classical Cockayne syndrome-1 (3) 030 253250 Mulibrey nanism gene Mulibrey nanism, 253250 (3) 030 312080 Proteolipid protein Pelizaeus-Merzbacher disease (3); Spastic 03 paraplegia-2, 312920 (3) 164040 Nucleophosmin 1 (nucleolar Leukemia, acute promyelocytic, 040 phosphoprotein B23, numatrin) NPM/RARA type (3) 143100 Huntingtin Huntington disease (3) 04 480000 Sex-determining region Y (testis Gonadal dysgenesis, XY type (3) 00 determining factor) 119500 Popliteala pterygium syndrome Popliteal pterygium syndrome (3) 011 302060 Tafazzin Endocardial fibroelastosis-2 (2); Barth 01 syndrome (3); Cardiomyopathy, X-linked dilated, 300069 (3); Noncompaction of left ventricular myocardium, isolated, 300183 (3) 115501 Tyrosinase-related protein 1 Albinism, brown, 203290 (1); Albinism, 02 rufous, 278400 (3) 305100 Ectodermal dysplasia-1, anhidrotic Ectodermal dysplasia-1, anhidrotic (3) 020 109150 Machado-Joseph disease (spinocerebellar Machado-Joseph disease (3) 040 ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant); ataxin-3 603680 Spinocerebellar ataxia 8 Spinocerebellar ataxia 8 (3) 040 604214 KREV interaction trapped 1 Cerebral cavernous malformations-1, 041 116860 (3) 604277 Spastin Spastic paraplegia-4, 182601 (3) 040 601097 Peripheral myelin protein-22 Charcot-Marie-Tooth neuropathy-1A, 0 4 118220 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, recurrent, with pressure palsies, 162500 (3); Charcot- Marie-Tooth disease with deafness, 118300 (3) 113705 Breast cancer-1, early onset Breast cancer-1 (3); Ovarian cancer (3) 040 201460 Acyl-Coenzyme A dehydrogenase, long Acyl-CoA dehydrogenase, long chain, 121000 chain deficiency of (3) 274500 Thyroid peroxidase Thyroid iodine peroxidase deficiency (1); 13100 Goiter, congenital (3); Hypothyroidism, congenital (3) 138571 Glycogen synthase-2, liver Glycogen storage disease, type 0, 240600 10110 (3) 603005 ATP sulfurylase/APS kinase 2 SEMD, Pakistani type (3) 101101 601771 Cytochrome P450, subfamily I, dioxin- Glaucoma 3A, primary infantile, 231300 (3) 121100 inducible, polypeptide 1 Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 3 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 250790 Cytochrome b5 Methemoglobinemia due to cytochrome b5 131100 deficiency (3) 300180 Arylsulfatase E Chondrodysplasia punctata, X-linked 103101 recessive, 302950 (3); Chondrodysplasia punctata, brachytelephalangic, 302940 (3) 203100 Tyrosinase Albinism, oculocutaneous, type IA (3); 101200 Waardenburg syndrome/ocular albinism, digenic, 103470 (3) 250800 Diaphorase (NADH); cytochrome b-5 Methemoglobinemia, type I (3); 101200 reductase Methemoglobinemia, type II (3) 604313 Galactokinase-1 Galactokinase deficiency with cataracts, 10120 230200 (3) 203200 Oculocutaneous albinism II (pink-eye Albinism, oculocutaneous, type II (3); 121201 dilution, murine, homolog of) Albinism, ocular, autosomal recessive (3) 261600 Phenylalanine hydroxylase Phenylketonuria (3); 12120 [Hyperphenylalaninemia, mild] (3) 103850 Aldolase A, fructose-bisphosphatase Aldolase A deficiency (3) 131200 203500 Homogentisate 1,2-dioxygenase Alkaptonuria (3) 131200 (homogentisate oxidase) 222900 Sucrase-isomaltase Sucrose intolerance (3) 131200 250850 Methionine adenosyltransferase I, alpha Hypermethioninemia, persistent, autosomal 131200 dominant, due to methionine adenosyltransferase I/III deficiency (3); Methionine adenosyltransferase deficiency, autosomal recessive (3) 261630 Quinoid dihydropteridine reductase Phenylketonuria due to dihydropteridine 13120 reductase deficiency (3) 261640 6-pyruvoyltetrahydropterin synthase Phenylketonuria due to PTS deficiency (3) 13120 107730 Apolipoprotein B (including Ag(x) antigen) Hypobetalipoproteinemia (3); 11220 Abetalipoproteinemia (3); Hyperbetalipoproteinemia, 144400 (3); Apolipoprotein B-100, ligand-defective, 144010 (3) 305900 Glucose-6-phosphate dehydrogenase G6PD deficiency (3); Favism (3); Hemolytic 113200 anemia due to G6PD deficiency (3) 308100 Steroid sulfatase, microsomal (arylsulfatase Ichthyosis, X-linked (3); Placental steroid 11320 C, isozyme S) sulfatase deficiency (3) 303100 Choroideremia Choroideremia (3) 13320 180072 Phosphodiesterase-6B, cGMP-specific, Night blindness, congenital stationary, type 101300 rod, beta 3, 163500 (3); Retinitis pigmentosa, autosomal recessive (3) 187680 Thiopurine S-methyltransferase 6-mercaptopurine sensitivity (3) 111300 271980 Succinic semialdehyde dehydrogenase Succinic semialdehyde dehydrogenase 11130 deficiency (3) 115500 Catalase Acatalasemia (3) 12130 229600 Aldolase B, fructose-bisphosphatase Fructose intolerance (3) 121300 258870 Ornithine aminotransferase Gyrate atrophy of choroid and retina with 12130 ornithinemia, B6 responsive or unresponsive (3) 136132 Flavin-containing monooxygenase 3 [Fish-odor syndrome], 602079 (3) 131300 142600 Hexokinase-1 Hemolytic anemia due to hexokinase 131300 deficiency (3) 162150 Proprotein convertase subtilisin/kexin type Obestiy with impaired prohormone 131300 1 processing, 600955 (3) 218030 Hydroxysteroid (11-beta) dehydrogenase 2 Apparent mineralocorticoid excess, 131300 hypertension due to (3); Hypertension, mild low-renin (3) 232700 Phosphorylase, glycogen, liver Glycogen storage disease VI (3) 131300 239510 Aldehyde dehydrogenase-4 (delta-1- Hyperprolinemia, type II (3) 131300 pyrroline 5-carboxylate dehydrogenase) 264300 Hydroxysteroid (17-beta) dehydrogenase 3 Pseudohermaphroditism, male, with 131300 gynecomastia (3) 274270 Dihydropyrimidine dehydrogenase Thymine-uraciluria (3); {Fluorouracil 13130 toxicity, sensitivity to} (3) 601617 Retinol dehydrogenase-5 Fundus albipunctatus, 136880 (3) 131300 602365 Cathepsin C Papillon-Lefevre syndrome, 245000 (3); 131300 Haim-Munk syndrome, 245010 (3) 232800 Phosphofructokinase, muscle type Glycogen storage disease VII (3) 1 1300 Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 4 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 124020 Cytochrome P450, subfamily IIC Mephenytoin poor metabolizer (3) 1 1300 (mephenytoin 4\(fm-hydroxylase) 107910 Cytochrome P450, subfamily XIX Gynecomastia, familial, due to increased 102300 (aromatization of androgens) aromatase activity (1); Virilization, maternal and fetal, from placental aromatase deficiency (3) 177000 Ferrochelatase Protoporphyria, erythropoietic (3); 10230 Protoporphyria, erythropoietic, recessive, with liver failure (3) 603968 Polymerase, DNA, eta Xeroderma pigmentosum, variant type, 102300 278750 (3) 176100 Uroporphyrinogen decarboxylase Porphyria cutanea tarda (3); Porphyria, 11230 hepatoerythropoietic (3) 121300 Coproporphyrinogen oxidase Coproporphyria (3); Harderoporphyrinuria 13230 (3) 130130 Elastase-2, neutrophil Cyclic hematopoiesis, 162800 (3) 132300 600179 Guanylate cyclase 2D, membrane, retina- Leber congenital amaurosis, type I, 204000 132300 specific (3); Cone-rod dystrophy 6, 601777(3) 307030 Glycerol kinase deficiency Glycerol kinase deficiency (3); 12330 Hyperglycerolemia (3) 309850 Monoamine oxidase A Brunner syndrome (3) 133300 311800 Phosphoglycerate kinase-1 Hemolytic anemia due to PGK deficiency 13330 (3); Myoglobinuria/hemolysis due to PGK deficiency (3) 604489 Alpha-methylacyl-CoA racemase Alpha-methylacyl-CoA racemase deficiency 101400 (3) 605113 Alpha-aminoadipic semialdehyde synthase Hyperlysinemia, 238700 (3); 10140 Saccharopinuria, 268700 (1) 102770 Adenosine monophosphate deaminase-1, Myoadenylate deaminase deficiency (3) 111400 muscle 177400 Butyrylcholinesterase Apnea, postanesthetic (3) 111400 601130 Cytochrome P450, subfamily IIC Tolbutamide poor metabolizer (3); Warfarin 111400 (mephenytoin 4-hydroxylase), polypeptide sensitivity, 122700 (3) 9 134580 Coagulation factor XIII, B polypeptide Factor XIIIB deficiency (3) 131400 150000 Lactate dehydrogenase A Exertional myoglobinuria due to deficiency 13140 of LDH-A (3) 180071 Phosphodiesterase-6A, cGMP-specific, Retinitis pigmentosa, autosomal recessive 131400 rod, alpha (3) 190195 Transglutaminase-1 (K polypeptide Ichthyosis, lamellar, autosomal recessive, 131400 epidermal type I, protein-glutamine gamma- 242300 (3); Ichthyosiform erythroderma, glutamyltransferase) congenital, 242100 (3) 232600 Phosphorylase, glycogen, muscle McArdle disease (3) 131400 261670 Phosphoglycerate mutase, muscle form Myopathy due to phosphoglycerate mutase 13140 deficiency (3) 600759 Presenilin 2 Alzheimer disease-4 (3) 102400 122720 Cytochrome P450, subfamily IIA, Coumarin resistance, 122700 (3); {Nicotine 112400 phenobarbital-inducible, polypeptide 6 addiction, protection from} (3) 133540 Excision repair cross complementing Cockayne syndrome-2, type B (3); 132400 rodent repair deficiency, complementation Cerebrooculofacioskeletal syndrome, group 6 214150 (3) 301300 Aminolevulinate, delta-, synthase-2 Anemia, sideroblastic/hypochromic (3) 133400 311870 Phosphorylase kinase, muscle, alpha Muscle glycogenosis (3) 133400 polypeptide 400005 Ubiquitin-specific protease-9, Y Azoospermia (3) 10 400 chromosome (Drosophila fat facets related, Y-linked) 179820 Renin [Hyperproreninemia] (3) 10 400 602403 Bleomycin hydrolase {Alzheimer disease, susceptibility to} (3) 131500 102772 Adenosine monophosphate deaminase-3, [AMP deaminase deficiency, erythrocytic] 111600 isoform E (3) 254600 Myeloperoxidase Myeloperoxidase deficiency (3) 11160 124030 Cytochrome P450, subfamily IID {?Parkinsonism, susceptibility to} (1); 1100 Debrisoquine sensitivity (3) 102600 Adenine phosphoribosyltransferase Urolithiasis, 2,8-dihydroxyadenine (3) 101110 601105 Cathepsin K Pycnodysostosis, 265800 (3) 121111 276000 Protease, serine, 1 (trypsin 1) Trypsinogen deficiency (1); Pancreatitis, 131110 hereditary, 167800 (3) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 5 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 153454 Procollagen-lysine, 2-oxoglutarate 5- Ehlers-Danlos syndrome, type VI, 225400 10121 dioxygenase (lysine hydroxylase) (3) 243500 Isovaleryl Coenzyme A dehydrogenase Isovalericacidemia (3) 121210 160777 Myosin, heavy polypeptide kinase Griscelli syndrome-type pigmentary dilution 131210 with mental retardation, 214450 (3) 207800 Arginase, liver Argininemia (3) 131210 236200 Cystathionine beta-synthase Homocystinuria, B6-responsive and 131210 nonresponsive types (3) 248600 Branched chain keto acid dehydrogenase Maple syrup urine disease, type Ia (3) 131210 E1, alpha polypeptide 248610 Dihydrolipoamide branched chain Maple syrup urine disease, type II (3) 131210 transacylase (E2 component of branched chain keto acid dehydrogenase complex) 248611 Branched chain keto acid dehydrogenase Maple syrup urine disease, type Ib (3) 131210 E1, beta polypeptide 600173 Janus kinase 3 (Janus kinase, leukocyte) SCID, autosomal recessive, T-negative/B- 131210 positive type (3) 311250 Ornithine transcarbamylase Ornithine transcarbamylase deficiency (3) 12321 266200 Pyruvate kinase, liver and RBC type Anemia, hemolytic, due to PK deficiency (3) 101310

251000 Methylmalonyl Coenzyme A mutase Methylmalonicaciduria, mutase deficiency 121310 type (3) 278300 Xanthine dehydrogenase (xanthine Xanthinuria, type I (3) 12131 oxidase) 170100 Peptidase D (prolidase) Prolidase deficiency (3) 13131 172490 Phosphorylase kinase, beta polypeptide Phosphorylase kinase deficiency of liver 1 1310 and muscle, autosomal recessive, 261750 (3) 191290 Tyrosine hydroxylase Segawa syndrome, recessive (3) 132310 306000 Phosphorylase kinase deficiency, liver Glycogenosis, X-linked hepatic, type I (3); 1 331 (glycogen storage disease type VIII) Glycogenosis, X-linked hepatic, type II (3) 180381 Rhodopsin kinase Oguchi disease-2, 258100 (3) 131410 238600 Lipoprotein lipase Hyperlipoproteinemia I (1); Lipoprotein 131410 lipase deficiency (3); Chylomicronemia syndrome, familial (3); Combined hyperlipemia, familial (3) 245900 Lecithin-cholesterol acyltransferase Norum disease (3); Fish-eye disease (3) 131410 602690 Succinate dehydrogenase complex, subunit Paragangliomas, familial nonchromaffin, 1, 102410 D, integral membrane protein 168000 (3) 604325 Protein phosphatase 2, regulatory subunit Spinocerebellar ataxia 12, 604326 (3) 102410 B, beta 176000 Hydroxymethylbilane synthase Porphyria, acute intermittent (3) 12241 107280 Alpha-1-antichymotrypsin Alpha-1-antichymotrypsin deficiency (3); 132410 Cerebrovascular disease, occlusive (3) 138079 Glucokinase (hexokinase-4) MODY, type 2, 125851 (3); 132410 Hyperinsulinism, familial, 602485 (3) 311850 Phosphoribosyl pyrophosphate synthetase- Phosphoribosyl pyrophosphate synthetase- 10341 1 related gout (3) 147450 Superoxide dismutase-1, soluble Amytrophic lateral sclerosis, due to SOD1 132510 deficiency, 105400 (3) 191342 Ubiquitin C-terminal esterase L1 Parkinson disease, familial, 168600 (3) 132510 600532 NADH dehydrogenase (ubiquinone) {Parkinson disease, susceptibility to}, 11 510 flavoprotein 2, 24kD 168600 (3) 120700 Complement component-3 C3 deficiency (3) 101020 120810 Complement component-4A C4 deficiency (3) 101020 120820 Complement component-4B C4 deficiency (3) 101020 264900 Coagulation factor XI (plasma Factor XI deficiency (3) 11112 thromboplastin antecedent) 201910 Cytochrome P450, subfamily XXIA, Adrenal hyperplasia, congenital, due to 21- 131121 polypeptide 2 (steroid 21-hydroxylase) hydroxylase deficiency (3) 202010 Cytochrome P450, subfamily XIB, Adrenal hyperplasia, congenital, due to 11- 131121 polypeptide 1 (11-beta-hydroxylase; beta-hydroxylase deficiency (3); corticosteroid methyl-oxidase II (CMO II)) Aldosteronism, glucocorticoid-remediable (3) 202110 Cytochrome P450, subfamily XVII (steroid Adrenal hyperplasia, congenital, due to 17- 131121 17-alpha-hydroxylase) alpha-hydroxylase deficiency (3) 276600 Tyrosine aminotransferase, cytosolic Tyrosinemia, type II (3) 13112 208400 Aspartylglucosaminidase Aspartylglucosaminuria (3) 10122 Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 6 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 230000 Fucosidase, alpha-L- 1, tissue Fucosidosis (3) 101220 258900 Uridine monophosphate synthetase Oroticaciduria (3) 10122 (orotate phosphoribosyl transferase and orotidine-5\(fm-decarboxylase) 232200 Glucose-6-phosphatase, catalytic Glycogen storage disease I (3) 121220 601785 Phosphomannomutase 2 Carbohydrate-deficient glycoprotein 121220 syndrome, type I, 212065 (3) 172471 Phosphorylase kinase, gamma 2 Glycogenosis, hepatic, autosomal (3) 131220 (testis/liver) 231670 Glutaryl-Coenzyme A dehydrogenase Glutaricaciduria, type I (3) 131220 603033 Collagenic tail of endplate Endplate acetylcholinesterase deficiency, 131220 acetylcholinesterase 603034 (3) 300300 Bruton agammaglobulinemia tyrosine Agammaglobulinemia, type 1, X-linked (3); 103220 kinase ?XLA and isolated growth hormone deficiency, 307200 (3) 308000 Hypoxanthine phosphoribosyltransferase 1 Lesch-Nyhan syndrome (3); HPRT-related 13322 gout (3) 151670 Lipase, hepatic Hepatic lipase deficiency (3) 10132 213700 Cytochrome P450, subfamily XXVIIA, Cerebrotendinous xanthomatosis (3) 10132 polypeptide 1 (sterol 27-hydroxylase) 603824 UDP-N-acetylglucosamine 2-epimerase/N- Sialuria, 269921 (3) 101320 acetylmannosamine kinase 107400 Protease inhibitor (alpha-1-antitrypsin) Emphysema-cirrhosis (3); Hemorrhagic 11132 diathesis due to \`antithrombin\' Pittsburgh (3); Emphysema (3) 230800 Glucosidase, acid beta Gaucher disease (3); Gaucher disease with 111320 cardiovascular calcification (3) 264700 Cytochrome P450, subfamily XXVIIB, Pseudovitamin D deficiency rickets 1 (3) 121320 polypeptide 1 600722 Palmitoyl-protein thioesterase 1 Ceroid lipofuscinosis, neuronal-1, infantile, 121320 256730 (3); Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits (3) 601690 Phospholipase A2, group VII (platelet- Platelet-activating factor acetylhydrolase 121320 activating factor acetylhydrolase) deficiency (3); {Asthma and atopy, susceptibility to}, 147070 (3) 201810 Hydroxy-delta-5-steroid dehydrogenase, 3 3-beta-hydroxysteroid dehydrogenase, type 131321 beta- and steroid delta-isomerase, type 2 II, deficiency (3) (adrenal, gonadal) 252800 Iduronidase, alpha-L- Mucopolysaccharidosis Ih (3); 131320 Mucopolysaccharidosis Is (3); Mucopolysaccharidosis Ih/s (3) 252900 N-sulfoglucosamine sulfohydrolase Sanfilippo syndrome, type A (3) 131320 (sulfamidase) 253000 Galactosamine (N-acetyl)-6-sulfate Mucopolysaccharidosis IVA (3) 131320 sulfatase 253200 Arylsulfatase B Maroteaux-Lamy syndrome, several forms 131320 (3) 254780 Laforin Epilepsy, myoclonic, Lafora type (3) 131320 259730 Carbonic anhydrase II Renal tubular acidosis-osteopetrosis 13132 syndrome (3) 126391 Ligase I, DNA, ATP-dependent DNA ligase I deficiency (3) 102321 604327 Xylosylprotein 4-beta- Ehlers-Danlos syndrome, progeroid form, 102320 galactosyltransferase, polypeptide 7 130070 (3) 601728 Phosphatase and tensin homolog (mutated Cowden disease, 158350 (3); Lhermitte- 122320 in multiple advanced cancers 1) Duclos syndrome (3); Bannayan-Zonana syndrome, 153480 (3); Endometrial carcinoma (3); Polyposis, juvenile intestinal, 174900 (3); Prostate cancer (3) 300205 Emopamil-binding protein Chondrodysplasia punctata, X-linked 103320 dominant, 302960 (3) 301500 Galactosidase, alpha Fabry disease (3) 12332 300032 ATR-X gene (helicase 2; X-linked nuclear Alpha-thalassemia/mental retardation 133320 protein) syndrome, 301040 (3); Juberg-Marsidi syndrome, 309590 (3); Sutherland-Haan syndrome, 309470 (3); Smith-Fineman- Myers syndrome, 309580 (3) 306400 Cytochrome b-245, beta polypeptide Chronic granulomatous disease, X-linked 133320 (3) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 7 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 309900 Iduronate 2-sulfatase (Hunter syndrome) Mucopolysaccharidosis II (3) 13332 117700 Ceruloplasmin [Hypoceruloplasminemia, hereditary] (1); 101420 Hemosiderosis, systemic, due to aceruloplasminemia (3) 120570 Complement component-1, q C1q deficiency, type B (3) 101420 subcomponent, beta polypeptide 120575 Complement component-1, q C1q deficiency, type C (3) 101420 subcomponent, gamma polypeptide 125860 Diaphorase-4 {Benzene toxicity, susceptibility to} (3); 111420 {Leukemia, post-chemotherapy, susceptibility to} (3) 133700 Exostoses, multiple, 1 Exostoses, multiple, type 1 (3); 131420 Chondrosarcoma, 215300 (3) 189980 Abelson murine leukemia viral (v-abl) Leukemia, chronic myeloid (3) 131420 oncogene homolog 1 232400 Amylo-1,6-glucosidase, 4-alpha- Glycogen storage disease IIIa (3); 131420 glucanotransferase (glycogen debranching Glycogen storage disease IIIb (3) enzyme) 233690 Cytochrome b-245, alpha polypeptide Chronic granulomatous disease, 131420 autosomal, due to deficiency of CYBA (3) 233700 Neutrophil cytosolic factor-1, 47kD Chronic granulomatous disease due to 131420 deficiency of NCF-1 (3) 233710 Neutrophil cytosolic factor-2, 65kD Chronic granulomatous disease due to 131420 deficiency of NCF-2 (3) 602026 Phytanoyl-CoA hydroxylase Refsum disease, 266500 (3) 13142 120550 Complement component-1, q C1q deficiency, type A (3) 102420 subcomponent, alpha polypeptide 104311 Presenilin 1 Alzheimer disease-3 (3) 102420 153450 Lysozyme Amyloidosis, renal, 105200 (3) 12242 190040 Platelet-derived growth factor, beta Meningioma, SIS-related (3); 132420 polypeptide (oncogene SIS) Dermatofibrosarcoma protuberans (3); Giant-cell fibroblastoma (3) 190090 Protooncogene SRC, Rous sarcoma Colon cancer, advanced (3) 132420 600079 Protein tyrosine phosphatase, non-receptor Colon cancer (3) 132420 type 12 106180 Dipeptidyl carboxypeptidase-1 (angiotensin {Myocardial infarction, susceptibility to} (3); 10 420 I converting enzyme) {Alzheimer disease, susceptibility to}, 104300 (3) 137350 Gelsolin Amyloidosis, Finnish type, 105120 (3) 12252 176960 Protein kinase C, alpha polypeptide Pituitary tumor, invasive (3) 102030 191740 UDP glycosyltransferase 1A Crigler-Najjar syndrome, type I, 218800 (3); 101130 [Gilbert syndrome], 143500 (3) 601336 Glucosidase I Glucosidase I deficiency (3) 101131 603051 Alkylglycerone-phosphate synthase Rhizomelic chondrodysplasia punctata, 101130 type 3, 600121 (3) 604539 A disintegrin-like and metalloproteinase Ehlers-Danlos syndrome, type VIIC, 101131 with thrombospondin type 1 motif, 2 225410 (3) (procollagen I N-proteinase) 253260 Biotinidase Biotinidase deficiency (3) 121130 602858 Delta-7-dehydrocholesterol reductase Smith-Lemli-Opitz syndrome, type I, 121131 270400 (3); Smith-Lemli-Opitz syndrome, type II, 268670 (3) 602616 mannosyl (alpha-1,6-)-glycoprotein beta- Carbohydrate-deficient glycoprotein 131131 1,2-N-acetylglucosaminyl- transferase syndrome, type II, 212066 (3) 602744 Glyceronephosphate O-acyltransferase Chondrodysplasia punctata, rhizomelic, 131131 type 2, 222765 (3) 601545 Platelet-activating factor acetylhydrolase, Lissencephaly-1 (3); Subcortical laminar 122131 isoform 1B, alpha subunit heterotopia (3) 300121 Doublecortin Lissencephaly, X-linked, 300067 (3); 103131 Subcortical laminal heteropia, X-linked, 300067 (3) 600423 Endothelin converting enzyme 1 Hirschsprung disease, cardiac defects, and 13 131 autonomic dysfunction (3) 130410 Electron transfer flavoprotein, beta Glutaricaciduria, type IIB (3) 10123 polypeptide 161015 NADH dehydrogenase (ubiquinone) Leigh syndrome, 256000 (3); Alexander 101230 flavoprotein 1, 51kD disease, 203450 (3)

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 8 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 179615 Recombination activating gene-1 Severe combined immunodeficiency, B cell- 101230 negative, 601457 (3); Reticulosis, familial histiocytic, 267700 (3); Omenn syndrome, 603554 (3) 179616 Recombination activating gene-2 Severe combined immunodeficiency, B cell- 101230 negative, 601457 (3); Omenn syndrome, 603554 (3) 201470 Acyl-Coenzyme A dehydrogenase, C-2 to Acyl-CoA dehydrogenase, short-chain, 101230 C-3 short chain deficiency of (3) 201475 Acyl-Coenzyme A dehydrogenase, very VLCAD deficiency (3) 101230 long chain 228000 N-acylsphingosine amidohydrolase (acid Farber lipogranulomatosis (3) 101230 ceramidase) 231675 Electron transfer flavoprotein:ubiquinone Glutaricaciduria, type IIC (3) 101230 oxidoreductase 236250 Methylenetetrahydrofolate reductase Homocystinuria due to MTHFR deficiency 101230 (3) 246900 Dihydrolipoamide dehydrogenase (E3 Lipoamide dehydrogenase deficiency (3) 101230 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex) 248500 Mannosidase, alpha, class 2B, member 1 Mannosidosis, alpha-, types I and II (3) 101230 248510 Mannosidase, beta A, lysosomal Mannosidosis, beta- (3) 101230 256540 Protective protein for beta-galactosidase Galactosialidosis (3) 10123 (cathepsin A) 276700 Fumarylacetoacetase Tyrosinemia, type I (3) 10123 278000 Lipase A, lysosomal acid, cholesterol Wolman disease (3); Cholesteryl ester 10123 esterase storage disease (3) 600528 Carnitine palmitoyltransferase I, liver CPT deficiency, hepatic, type I, 255120 (3) 10123 600890 Hydroxyacyl-Coenzyme A LCHAD deficiency (3); Trifunctional protein 10123 dehydrogenase/3-ketoacyl-Coenzyme A deficiency, type 1 (3); HELLP syndrome, thiolase/ enoyl-Coenzyme A hydratase maternal, of pregnancy (3); Fatty liver, (trifunctional protein), alpha subunit acute, of pregnancy (3) 601825 NADH dehydrogenase (ubiquinone) Fe-S Leigh syndrome, 256000 (3) 10123 protein 7, 20kD (NADH-coenzyme Q reductase) 602694 NADH dehydrogenase (ubiquinone) Fe-S Complex I deficiency (3) 101231 protein 4, 18kD (NADH-coenzyme Q reductase) 603707 Molybdenum cofactor synthesis-1 Molybdenum cofactor deficiency, type A, 101230 252150 (3) 603708 Molybdenum cofactor synthesis-2 Molybdenum cofactor deficiency, type B, 101230 252150 (3) 603711 Oxysterol 7-alpha-hydroxylase Giant cell hepatitis, neonatal, 231100 (3) 101230 201450 Acyl-Coenzyme A dehydrogenase, C-4 to Acyl-CoA dehydrogenase, medium chain, 121230 C-12 straight chain deficiency of (3) 207900 Argininosuccinate lyase Argininosuccinicaciduria (3) 12123 212138 Carnitine-acylcarnitine translocase Carnitine-acylcarnitine translocase 12123 deficiency (3) 232300 Glucosidase, acid alpha- Glycogen storage disease II (3) 121230 237300 Carbamoyl-phosphate synthetase 1, Carbamoylphosphate synthetase I 121230 mitochondrial deficiency (3) 256550 Neuraminidase 1 (lysosomal sialidase; Sialidosis, type I (3); Sialidosis, type II (3) 12123 sialidase 1) 266150 Pyruvate carboxylase Pyruvate carboxylase deficiency (3) 12123 601002 Glutathione synthetase Hemolytic anemia due to glutathione 12123 synthetase deficiency, 231900 (3); 5- oxoprolinuria, 266130 (3) 601860 Hydroxysteroid (17-beta) dehydrogenase 4 D-bifunctional protein deficiency (3) 121231

603470 Argininosuccinate synthetase Citrullinemia, 215700 (3) 12123 102700 Adenosine deaminase Severe combined immunodeficiency due to 131230 ADA deficiency (3); Hemolytic anemia due to ADA excess (1) 136850 Fumarate hydratase Fumarase deficiency (3) 131230 137167 Gamma-glutamyl carboxylase Vitamin K-dependent coagulation defect, 131230 277450 (3)

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 9 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 143450 Hydroxyacyl-Coenzyme A Trifunctional protein deficiency, type II (3) 131230 dehydrogenase/3-ketoacyl-Coenzyme A thiolase /enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit 154550 Mannosephosphate isomerase Carbohydrate-deficient glycoprotein 131230 (phosphomannose isomerase 1) syndrome, type Ib, 602579 (3) 190450 Triosephosphate isomerase-1 Hemolytic anemia due to triosephosphate 131230 isomerase deficiency (3) 222748 Dihydropyrimidinase Dihydropyrimidinuria (3) 131230 230350 UDP galactose-4-epimerase Galactose epimerase deficiency (3) 131230 230500 Galactosidase, beta-1 GM1-gangliosidosis (3); 131230 Mucopolysaccharidosis IVB (3) 232000 Propionyl Coenzyme A carboxylase, alpha Propionicacidemia, type I or pccA type (3) 131230 polypeptide 232050 Propionyl Coenzyme A carboxylase, beta Propionicacidemia, type II or pccB type (3) 131230 polypeptide 238300 Glycine dehydrogenase (decarboxylating; Hyperglycinemia, nonketotic, 1 (3) 131230 glycine decarboxylase, glycine cleavage system protein P) 245050 Succinyl CoA:3-oxoacid CoA transferase Ketoacidosis due to SCOT deficiency (3) 131230 245200 Galactosylceraminidase Krabbe disease (3) 13123 245349 Pyruvate dehydrogenase complex, lipoyl- Lacticacidemia due to PDX1 deficiency (3) 131230 containing component X 248360 Malonyl-CoA decarboxylase Malonyl-CoA decarboxylase deficiency (3) 131230 250100 Arylsulfatase A Metachromatic leukodystrophy (3) 131230 251170 Mevalonate kinase Mevalonicaciduria (3); 131230 Hyperimmunoglobulinemia D and periodic fever syndrome, 260920 (3) 253270 Holocarbyoxylase synthetase Multiple carboxylase deficiency, biotin- 131230 responsive (3) 268800 Hexosaminidase B, beta polypeptide Sandhoff disease, infantile, juvenile, and 13123 adult forms (3); Spinal muscular atrophy, juvenile (3) 271900 Aspartoacylase (aminoacylase-2) Canavan disease (3) 13123 272800 Hexosaminidase A, alpha polypeptide Tay-Sachs disease (3); GM2- 13123 gangliosidosis, several forms (3); [Hex A pseudodeficiency] (3) 600857 Succinate dehydrogenase complex, subunit Leigh syndrome (3) 131230 A, flavoprotein 602125 Cytochrome c oxidase, subunit X Encephalopathy, progressive 131230 mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency (3) 602141 NADH dehydrogenase (ubiquinone) Fe-S Leigh syndrome, 256000 (3) 131230 protein 8, 23kD (NADH-coenzyme Q reductase) 602671 Glucose-6-phosphate transporter-1 Glycogen storage disease Ib, 232220 (3); 131230 Glycogen storage disease Ic, 232240 (3) 232500 Glycogen branching enzyme Glycogen storage disease IV (3) 1 1230 124080 Cytochrome P450, subfamily XIB, CMO II deficiency (3) 1 1230 polypeptide 2 176860 Protein C (inactivator of coagulation factors Thrombophilia due to protein C deficiency 12223 Va and VIIIa) (3); Purpura fulminans, neonatal (1) 138130 Glutamate dehydrogenase-1 Hyperinsulinism-hyperammonemia 132230 syndrome (3) 602216 Serine/threonine protein kinase-11 Peutz-Jeghers syndrome, 175200 (3) 132230 306700 Coagulation factor VIIIc, procoagulant Hemophilia A (3) 11323 component 312170 Pyruvate dehydrogenase, E1-alpha Pyruvate dehydrogenase deficiency (3) 13323 polypeptide-1 602900 DNA methyltransferase 3B Immunodeficiency-centromeric instability- 101331 facial anomalies syndrome, 242860 (3) 604285 Alanine-glyoxylate aminotransferase, liver- Hyperoxaluria, primary, type 1, 259900 (3) 10133 specific peroxisomal 252920 N-acetylglucosaminidase, alpha- Sanfilippo syndrome, type B (3) 121330 137150 4-aminobutyrate aminotransferase GABA-transaminase deficiency (3) 131330 203750 Acetyl-Coenzyme A acetyltransferase-1 3-ketothiolase deficiency (3) 131330 (acetoacetyl Coenzyme A thiolase) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 10 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 257200 Sphingomyelin phosphodiesterase-1, acid Niemann-Pick disease, type A (3); 13133 lysosomal Niemann-Pick disease, type B (3) 160900 Dystrophia myotonica-protein kinase Myotonic dystrophy (3) 12233 164050 Nucleoside phosphorylase Nucleoside phosphorylase deficiency, 10 330 immunodeficiency due to (3) 179502 RAP1, GTP-GDP dissociation stimulator 1 Lymphocytic leukemia, acute T-cell (3) 101430 602447 Paraoxonase-2 {Coronary artery disease, susceptibility to} 10 530 (3) 120580 Complement component-1, s C1r/C1s deficiency, combined (1); C1s 1010 0 subcomponent deficiency, isolated (3) 173335 Phosphodiesterase I/nucleotide Ossification of posterior longitudinal 1010 0 pyrophosphatase 1 (homologous to mouse ligament of spine, 602475 (3) Ly-41 antigen) 604443 Long-chain acyl-CoA synthetase 2 Myelodysplastic syndrome (3); 1010 0 Myelogenous leukemia, acute (3) 217000 Complement component-2 C2 deficiency (3) 1110 0 300142 p21-activated kinase-3 Mental retardation, X-linked 30 (3) 1330 0 264600 Steroid-5-alpha-reductase, alpha Pseudovaginal perineoscrotal hypospadias 1011 polypeptide-2 (3-oxo-5 alpha-steroid delta 4-(3) dehydrogenase alpha-2) 270200 Aldehyde dehydrogenase-10 (fatty Sjogren-Larsson syndrome (3) 1211 0 aldehyde dehydrogenase) 600923 Protoporphyrinogen oxidase Porphyria variegata, 176200 (3) 1311 1 176930 Coagulation factor II (thrombin) Hypoprothrombinemia (3); 1012 Dysprothrombinemia (3) 227600 Coagulation factor X Factor X deficiency (3) 1012 0 263700 Uroporphyrinogen III synthase Porphyria, congenital erythropoietic (3) 1012 600650 Carnitine palmitoyltransferase II Myopathy due to CPT II deficiency, 255110 1012 (3); CPT deficiency, hepatic, type II, 600649 (3) 601240 Guanidinoacetate methyltransferase GAMT deficiency (3) 1012 0 602568 Methionine synthase reductase Homocystinuria-megaloblastic anemia, cbl 1012 0 E type, 236270 (3) 126090 Pterin-4a-carbinolamine dehydratase Hyperphenylalaninemia due to pterin-4a- 1312 (dimerization cofactor of hepatic nuclear carbinolamine dehydratase deficiency, factor 1-alpha) 264070 (3) 134570 Coagulation factor XIII, A polypeptide Factor XIIIA deficiency (3) 1312 227500 Coagulation factor VII Factor VII deficiency (3) 1312 0 307800 Phosphate regulating gene with Hypophosphatemia, hereditary (3) 1032 0 homologies to endopeptidases on the X chromosome 103000 Adenylate kinase-1 Hemolytic anemia due to adenylate kinase 1013 0 deficiency (3) 103050 Adenylosuccinate lyase Adenylosuccinase deficiency (1); Autism, 1013 0 succinylpurinemic (3) 114240 Calpain, large polypeptide L3 Muscular dystrophy, limb-girdle, type 2A, 1013 0 253600 (3) 141250 Heme oxygenase, decycling, 1 Heme oxygenase-1 deficiency (3) 1013 0 246450 3-hydroxy-3-methylglutaryl-Coenzyme A HMG-CoA lyase deficiency (3) 1213 0 lyase 601492 Hyaluronoglucosaminidase 1 Mucopolysaccharidosis type IX (3) 1213 1 104170 Acetylgalactosaminidase, alpha-N- (alpha- Schindler disease (3); Kanzaki disease (3); 1313 galactosidase B) NAGA deficiency, mild (3) 172400 Glucose phosphate isomerase; neuroleukin Hemolytic anemia due to 1313 0 glucosephosphate isomerase deficiency (3); Hydrops fetalis, one form (1) 253220 Glucuronidase, beta- Mucopolysaccharidosis VII (3) 1313 0 600225 GTP cyclohydrolase 1 Phenylketonuria, atypical, due to GCH1 1313 deficiency, 233910 (1); Dystonia, DOPA- responsive, 128230 (3) 604296 Glyoxylate reductase/hydroxypyruvate Fanconi anemia, complementation group F 1313 reductase (3) 601623 Ubiquitin protein ligase E3A Angelman syndrome, 105830 (3) 1031 168820 Paraoxonase-1 {Coronary artery disease, susceptibility to} 1030 (3) 100650 Aldehyde dehydrogenase-2, mitochondrial Alcohol intolerance, acute (3); {?Fetal 1114 0 alcohol syndrome} (1) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 11 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 125270 Aminolevulinate, delta-, dehydratase Porphyria, acute hepatic (3); {Lead 1314 poisoning, susceptibility to} (3) 131222 Endothelial cell growth factor-1, platelet- Myoneurogastrointestinal 1314 0 derived encephalomyopathy syndrome, 603041 (3) 123829 Cyclin-dependent kinase 4 Melanoma (3) 1224 0 171760 Alkaline phosphatase, liver/bone/kidney Hypophosphatasia, infantile, 241500 (3); 1213 0 Hypophosphatasia, childhood, 241510 (3); ?Hypophosphatasia, adult, 146300 (1) 300248 Inhibitor of kappa light polypeptide gene Incontinentia pigmenti, type II, 308310 (3) 1231 1 enhancer in B cells, kinase of, gamma 173350 Plasminogen Plasminogen Tochigi disease (3); 1024 0 Thrombophilia, dysplasminogenemic (1); Plasminogen deficiency, types I and II (1); Conjunctivitis, ligneous, 217090 (3) 163729 Nitric oxide synthase 3, endothelial cell {Preeclampsia, susceptibility to, 189800} 1 (2); {Coronary spasm, susceptibility to} (3) 162080 Neural retina leucine zipper Retinitis pigmentosa, autosomal dominant 202000 (3) 602229 SRY (sex-determining region Y)-box-10 Waardenburg-Shah syndrome, 277580 (3); 23010 Yemenite deaf-blind hypopigmentation syndrome, 601706 (3); Waardenburg-Shah syndrome, neurologic variant (3) 602617 Forkhead, drosophila, homolog-like 15 Bamforth-Lazarus syndrome, 241850 (3) 201101 (thyroid transcription factor-2) 603273 Tumor protein p63 Ectrodactyly, ectodermal dysplasia, and 201101 cleft lip/palate syndrome 3, 604292 (3) 106210 Paired box homeotic gene-6 Aniridia (3); Peters anomaly, 603807 (3); 202101 Cataract, congenital, with late-onset corneal dystrophy (3); Foveal hypoplasia, isolated, 136520 (3); Ectopia pupillae, 129750 (3); Keratitis, 148190 (3) 142959 Homeo box-A13 Hand-foot-uterus syndrome, 140000 (3) 202101 142993 C. elegans ceh-10 homeo domain- Microphthalmia, cataracts, and iris 202101 containing homolog abnormalities (3) 604386 Trichorhinophalangeal syndrome type I zinc Trichorhinophalangeal syndrome, type I, 202101 finger protein 190350 (3) 601622 TWIST, drosophila, homolog of Saethre-Chotzen syndrome, 101400 (3) 222101 601653 Eyes absent, Drosophila, homolog of, 1 Branchiootorenal syndrome, 113650 (3); 222101 Branchiootic syndrome (3); Anterior segment anomalies and cataract (3); Branchiootorenal syndrome with cataract, 113650 (3) 123101 msh, Drosophila, homeo box homolog of, 2 Craniosynostosis, type 2, 604757 (3); 232101 Parietal foramina 1, 168500 (3) 142989 Homeo box-D13 Synpolydactyly, type II, 186000 (3) 232101 156845 Microphthalmia-associated transcription Waardenburg syndrome, type IIA, 193510 232101 factor (3); Waardenburg syndrome/ocular albinism, digenic, 103470 (3); Tietz syndrome, 103500 (3) 600211 Runt-related transcription factor 2 Cleidocranial dysplasia, 119600 (3); Dental 232100 anomalies, isolated (3) 601090 Forkhead, drosophila, homolog-like 7 Iridogoniodysgenesis, 601631 (3); Anterior 232101 segment mesenchymal dysgenesis (3); Rieger anomaly (3); Axenfeld anomaly (3) 602575 LIM homeo box transcription factor 1, beta Nail-patella syndrome, 161200 (3); Nail- 232101 patella syndrome with open-angle glaucoma, 137750 (3) 600525 Distal-less homeo box-3 Trichodontoosseous syndrome, 190320 (3) 23 101

602302 Hairless, mouse, homolog of Alopecia universalis, 203655 (3); Atrichia 231200 with papular lesions, 209500 (3) 602669 Paired-like homeodomain transcription Anterior segment mesenchymal dysgenesis 202200 factor-3 and cataract, 107250 (3); Cataract, congenital (3) 193500 Paired box homeotic gene-3 Waardenburg syndrome, type I (3); 22220 Waardenburg syndrome, type III, 148820 (3); Rhabdomyosarcoma, alveolar, 268220 (3); Craniofacial-deafness-hand syndrome, 122880 (3) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 12 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 305371 GATA-binding protein-1 (globin Dyserythropoietic anemia with 203200 transcription factor-1) thrombocytopenia (3) 300039 POU domain, class 3, transcription factor 4 Deafness, X-linked 3, conductive, with 233200 stapes fixation, 304400 (3) 602225 Cone-rod homeo box-containing gene Cone-rod retinal dystrophy-2, 120970 (3); 231300 Leber congenital amaurosis due to defect in CRX, 204000 (3); Retinitis pigmentosa, late-onset dominant (3) 142983 msh, Drosophila, homeo box homolog of, 1 Hypodontia, autosomal dominant, 106600 202301 (formerly homeo box 7) (3); Hypodontia with orofacial cleft, 106600 (3) 603128 Single-minded, drosophila, homolog of, 1 Obesity, severe (3) 202300 129010 KROX-20, Drosophila, homolog of (early Neuropathy, congenital hypomyelinating, 1 232300 growth response-2) (3) 300005 Methyl-CpG-binding protein-2 Rett syndrome, 312750 (3) 223300 312865 Growth control factor, X-linked Short stature, idiopathic familial (3); Leri- 233300 (pseudoautosomal homeo box-containing Weill dyschondrosteosis, 127300 (3); osteogenic gene) Langer mesomelic dysplasia, 249700 (3) 604485 Nuclear receptor subfamily 2, group E, Enhanced S-cone syndrome, 268100 (3) 231400 member 3 602460 POU domain, class 4, transcription factor-3 Deafness, autosomal dominant 15, 602459 232400 (3) 300108 Diaphanous, Drosophila, homolog of, 2 Premature ovarian failure, 311360 (3) 233400 600140 CREB binding protein Rubenstein-Taybi syndrome, 180849 (3) 232211 300200 DSS-AHC critical region on the X Adrenal hypoplasia, congenital, with 233210 chromosome, gene 1 hypogonadotropic hypogonadism (3); Dosage-sensitive sex reversal, 300018 (3) 194070 Wilms tumor-1 Wilms tumor, type 1 (3); Denys-Drash 212310 syndrome (3); Frasier syndrome, 136680 (3) 180200 Retinoblastoma-1 Retinoblastoma (3); Osteosarcoma, 22231 259500 (2); Bladder cancer, 109800 (3); Pinealoma with bilateral retinoblastoma (2) 138040 Nuclear receptor subfamily 3, group C, Cortisol resistance (3) 231410 member 1 (glucocorticoid receptor) 604641 Mitogen-activated protein kinase 8- Diabetes mellitus, noninsulin-dependent, 202410 interacting protein 1 125853 (3) 600281 Hepatocyte nuclear factor 4, alpha MODY, type 1, 125850 (3); {Diabetes 222410 (transcription factor-14) mellitus, noninsulin-dependent}, 125853 (3) 601724 Neurogenic differentiation 1 Diabetes mellitus, type II, 125853 (3) 222410 133430 Estrogen receptor 1 Breast cancer (1); Estrogen resistance (3) 232410 601487 Peroxisome proliferator activated receptor, Obesity, severe, 601665 (3); [Obesity, 21 410 gamma protection against] (3); Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension, 604367 (3) 190182 Transforming growth factor, beta receptor Colon cancer (3); Colorectal cancer, 232510 II, 70-80kD familial nonpolyposis, type 6 (3) 189907 Transcription factor-2, hepatic; LF-B3; MODY, type V (3); MODY5 with non- 232121 variant hepatic nuclear factor diabetic renal disease and Mullerian aplasia (3) 190160 Thyroid hormone receptor, beta (avian Thyroid hormone resistance, 274300, 232320 erythroblastic leukemia viral (v-erb-a) 188570 (3) oncogene homolog-2) 179755 Papillary renal cell carcinoma, translocation-Renal cell carcinoma, papillary, 1, 605074 202420 associated (3) 142410 Interferon production regulator factor MODY, type 3, 600496 (3); {Diabetes 232420 (HNF1), albumin proximal factor mellitus, noninsulin-dependent, 2}, 601407 (2) {Diabetes mellitus, insulin-dependent} (3) 151385 Runt-related transcription factor 1 (aml1 Leukemia, acute myeloid (1); Platelet 232420 oncogene) disorder, familial, with associated myeloid malignancy, 601399 (3) 190020 Harvey rat sarcoma viral (v-Ha-ras) Bladder cancer, 109800 (3) 232420 oncogene homolog 167416 Paired box homeotic gene-9 Oligodontia, 604625 (3) 201131 600838 Winged helix nude T-cell immunodeficiency, congenital 231130 alopecia, and nail dystrophy (3) 114290 SRY (sex-determining region Y)-box 9 Campomelic dysplasia with autosomal sex 202131 reversal (3) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 13 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 601620 T-box 5 Holt-Oram syndrome, 142900 (3) 202131 602630 TG-interacting factor Holoprosencephaly-4, 142946 (3) 202131 603073 ZIC family member 2 Holoprosencephaly-5 (3) 2 02131 603714 Sine oculis homeo box, drosophila, Holoprosencephaly-2, 157170 (3) 2 02131 homolog of, 3 142994 Homeo box-HB9 Currarino syndrome, 176450 (3) 232131 602218 Sal-like 1 Townes-Brocks syndrome, 107480 (3) 232130 306955 Zic family member-3 Heterotaxy, X-linked visceral (3) 203131 173110 POU domain, class 1, transcription factor 1 Pituitary hormone deficiency, combined (3) 2 0123 (Pit1, growth hormone factor 1) 230400 Galactose-1-phosphate uridyltransferase Galactosemia (3) 221230 601861 Regulatory factor X-associated protein MHC class II deficiency, group B, 209920 231230 (3) 601863 Regulatory factor X, 5 (influences HLA MHC class II deficiency, complementation 231230 class II expression) group C, 209920 (3) 167410 Paired box homeotic gene-7 Rhabdomyosarcoma, alveolar, 268220 (3) 201330 136533 Forkhead, Drosophila, homolog of, 1 Rhabdomyosarcoma, alveolar, 268220 (3) 231330 167409 Paired box homeotic gene-2 Optic nerve coloboma with renal disease, 202331 120330 (3) 131320 GATA-binding protein-3 Hypoparathyroidism, sensorineural 232330 deafness, and renal dysplasia, 146255 (3) 176797 Promyelocytic leukemia zinc finger Leukemia, acute promyelocytic, 202430 PL2F/RARA type (3) 191170 Tumor protein p53 Colorectal cancer, 114500 (3); Li-Fraumeni 222430 syndrome (3) 601542 Paired-like homeodomain transcription Rieger syndrome, 180500 (3); 2 020 1 factor-2 Iridogoniodysgenesis syndrome-2, 137600 (3) 102578 Promyelocytic leukemia, inducer of Leukemia, acute promyelocytic, 2320 0 PML/RARA type (3) 600035 Empty spiracles, Drosophila, homolog of, 2 Schizencephaly (3) 2311 1 600577 LIM/homeodomain protein LHX3 Pituitary hormone deficiency, combined, 2311 1 with rigid cervical spine, 262600 (3) 601802 Homeo box gene expressed in ES cells Septooptic dysplasia, 182230 (3) 2311 1 165240 GLI-Kruppel family member GLI3 Greig cephalopolysyndactyly syndrome, 2021 1 (oncogene GLI3) 175700 (3); Pallister-Hall syndrome, 146510 (3); Polydactyly, preaxial, type IV, 174700 (3); Polydactyly, postaxial, types A1 and B, 174200 (3) 167415 Paired box homeotic gene-8 Hypothyroidism, congenital, due to thyroid 2021 1 dysgenesis or hypoplasia (3) 184757 Fushi tarazu factor, Drosophila, homolog Sex reversal, XY, with adrenal failure (3) 2321 1 of, 1 600584 Cardiac-specific homeo box Atrial septal defect with atrioventricular 2321 1 conduction defects, 108900 (3) 601621 T-box 3 Ulnar-mammary syndrome, 181450 (3) 2321 1 313700 Androgen receptor (dihydrotestosterone Androgen insensitivity, several forms (3); 2231 receptor) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Prostate cancer (3); Perineal hypospadias (3); Breast cancer, male, with Reifenstein syndrome (3) 600733 Insulin promoter factor 1, homeodomain Pancreatic agenesis, 260370 (3); MODY, 2212 1 transcription factor type IV (3) TypeII DM 601538 Prophet of Pit1, paired-like homeodomain Pituitary hormone deficiency, combined (3) 2 312 transcription factor 601769 Vitamin D (1,25-dihydroxyvitamin D3) Rickets, vitamin D-resistant, 277440 (3); 2312 receptor ?Osteoporosis, involutional (1) 601601 Transcription factor AP-2 beta (activating Char syndrome, 169100 (3) 2222 1 enhancer-binding protein 2 beta) 600983 Nuclear receptor subfamily 3, group C, Pseudohypoaldosteronism type I, 2322 0 member 2 (mineralocorticoid receptor; autosomal dominant, 177735 (3); aldosterone receptor) Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) 600075 TATA box binding protein Complex neurologic disorder, 117200 (3) 2023 0 109565 B-cell CLL/lymphoma-6 Lymphoma, B-cell (2); Lymphoma, diffuse 2020 0 large cell (3) Toll-like recpetor-4 Endotoxin hyporesponsiveness (3) 603030Copyright  2001 Johns Hopkins University. All rights reserved 301000 Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 14 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 180380 Rhodopsin Retinitis pigmentosa-4, autosomal 322000 dominant (3); Retinitis pigmentosa, autosomal recessive (3); Night blindness, congenital stationery, rhodopsin-related (3) 155555 Melanocortin-1 receptor (alpha melanocyte- {UV-induced skin damage, vulnerability to} 332000 stimulating hormone receptor) (3); [Red hair/fair skin] (3) 182452 Somatostatin receptor-2 Lung cancer, small cell (3) 30 000 602337 Receptor tyrosine kinase-like orphan Brachydactyly, type B1, 113000 (3); 331101 receptor 2 Robinow syndrome, autosomal recessive, 268310 (3) 176943 Fibroblast growth factor receptor-2 Crouzon syndrome, 123500 (3); Jackson- 302101 (bacteria-expressed kinase) Weiss syndrome, 123150 (3); Beare- Stevenson cutis gyrata syndrome, 123790 (3); Pfeiffer syndrome, 101600 (3); Apert syndrome, 101200 (3); Saethre-Chotzen syndrome (3) 600221 TEK tyrosine kinase, endothelial Venous malformations, multiple cutaneous 322101 and mucosal, 600195 (3) 180069 Retinal pigment epithelium-specific protein, Leber congenital amaurosis-2, 204100 (3); 301200 65kD Retinal dystrophy, autosomal recessive, childhood-onset (3); Retinitis pigmentosa- 20 (3) 136352 fms-related tyrosine kinase-4 (vascular Lymphedema, hereditary I, 153100 (3) 331200 endothelial growth factor receptor 3) 190900 Blue cone pigment Colorblindness, tritan (3) 312200 155541 Melanocortin-4 receptor Obesity, autosomal dominant (3) 332200 604095 Downless, mouse, homolog of Ectodermal dysplasia, hypohidrotic, 332200 autosomal dominant, 129490 (3); Ectodermal dysplasia, hypohidrotic, autosomal recessive, 224900 (3) 303800 Green cone pigment Colorblindness, deutan (3) 31320 303900 Red cone pigment Colorblindness, protan (3) 31320 173470 Integrin, beta-3 (platelet glycoprotein IIIa; Glanzmann thrombasthenia, type B (3) 301300 antigen CD61) 273800 Integrin, alpha-2b (platelet glycoprotein IIb Glanzmann thrombasthenia, type A (3); 301300 of IIb/IIIa complex, antigen CD41B) Thrombocytopenia, neonatal alloimmune 136435 Follicle stimulating hormone receptor Ovarian dysgenesis, hypergonadotropic, 311300 with normal karyotype, 233300 (3) 600956 Anti-Mullerian hormone receptor, type II Persistent Mullerian duct syndrome, type II, 321301 261550 (3) 152790 Luteinizing hormone/choriogonadotropin Precocious puberty, male, 176410 (3); 331300 receptor Pseudohermaphroditism, male, with Leydig cell hypoplasia (3); Hypogonadotropic hypogonadism (3); Micropenis (3); Leydig cell adenoma, with precocious puberty (3) 159530 Myeloproliferative leukemia virus, homolog Thrombocytopenia, congenital 331300 of amegakaryocytic, 604498 (3) 118504 Cholinergic receptor, nicotinic, alpha Epilepsy, nocturnal frontal lobe, 600513 (3) 302300 polypeptide-4 126450 Dopamine receptor D2 Dystonia, myoclonic, 159900 (3) 302300 601284 Activin A receptor, type II-like kinase 1 Hereditary hemorrhagic telangiectasia-2, 322301 600376 (3) 126452 Dopamine receptor D4 Autonomic nervous system dysfunction (3); 30 300 [Novelty seeking personality], 601696 (1)

147781 Interleukin-4 receptor {Atopy, susceptibility to} (3) 311400 138850 Gonadotropin-releasing hormone receptor Hypogonadotropic hypogonadism (3) 331400 133171 Erythropoietin receptor [Erythrocytosis, familial], 133100 (3) 332400 603499 Tumor necrosis factor receptor superfamily, Osteolysis, familial expansile, 174810 (3); 332310 member 11A Paget disease of bone, 602080 (3) 138033 Glucagon receptor Diabetes mellitus, type II (3) 311410 100690 Cholinergic receptor, nicotinic, alpha Myasthenic syndrome, slow-channel 332410 polypeptide-1, muscle congenital, 601462 (3) 188070 Thromboxane A2 receptor Bleeding disorder due to defective 332410 thromboxane A2 receptor (3) 604720 Transferrin receptor 2 Hemochromotosis, 604250 (3) 31151

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 15 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 600946 Growth hormone receptor Laron dwarfism, 262500 (3); Short stature, 32122 idiopathic (3); Short stature, autosomal dominant, with normal serum growth hormone binding protein (3) 138720 Glycoprotein Ib, platelet, beta polypeptide Bernard-Soulier syndrome, type B, 231200 331220 (2); Giant platelet disorder, isolated (3) 227400 Coagulation factor V (proaccelerin, labile Hemorrhagic diathesis due to factor V 331220 factor) deficiency (1); {Thromboembolism susceptibility due to factor V Leiden} (3) 231200 Glycoprotein Ib, platelet, alpha polypeptide Bernard-Soulier syndrome (3) 331220 143890 Low density lipoprotein receptor Hypercholesterolemia, familial (3) 31232 180901 Ryanodine receptor-1, skeletal {Malignant hyperthermia susceptibility 1}, 322320 145600 (3); Central core disease, 117000 (3) 601309 Patched, Drosophila, homolog of Basal cell nevus syndrome, 109400 (3); 322321 Basal cell carcinoma, sporadic (3) 600799 Bone morphogenetic receptor, type II Pulmonary hypertension, familial primary, 332320 178600 (3) 603046 Translocation-related gene on chromosome Renal cell carcinoma, 144700 (3) 332320 8 304800 Arginine vasopressin receptor-2 Diabetes insipidus, nephrogenic (3) 333320 601604 Interleukin-12 receptor, beta-1 {Mycobacterial and salmonella infections, 33 320 susceptibility to} (3) 106165 Angiotensin receptor 1 Hypertension, essential, 145500 (3) 301420 147280 Insulin-like growth factor-2 receptor Hepatocellular carcinoma (3) 301420 (mannose-6-phosphate receptor, cation- independent) 600276 Notch, Drosophila, homolog of, 3 Cerebral arteriopathy with subcortical 302420 infarcts and leukoencephalopathy, 125310 (3) 134637 Tumor necrosis factor receptor superfamily, {Autoimmune lymphoproliferative 332420 member 6 syndrome} (3) 604584 Platelet-derived growth factor receptor-like Hepatocellular cancer, 114550 (3); 332420 Colorectal cancer, 114500 (3) 146790 Fc fragment of IgG, low affinity IIa, receptor {Lupus nephritis, susceptibility to} (3) 30 420 for (CD32) 601267 Chemokine (C-C) receptor 2 {HIV infection, susceptibility/resistence to} 31 420 (3) 601373 Chemokine (C-C) receptor 5 {HIV infection, susceptibility/resistance to} 31 420 (3) 600065 Integrin, beta-2 (antigen CD18 (p95), Leukocyte adhesion deficiency, 116920 (3) 30103 lymphocyte function-associated antigen-1; macrophage antigen, beta polypeptide) 164770 Colony-stimulating factor-1 receptor; Myeloid malignancy, predisposition to (3) 302030 oncogene FMS (McDonough feline sarcoma) 147556 Integrin, alpha-6 Epidermolysis bullosa, junctional, with 301130 pyloric stenosis, 226730 (3) 147557 Integrin, beta-4 Epidermolysis bullosa, junctional, with 301130 pyloric atresia, 226730 (3); Epidermolysis bullosa, generalized atrophic benign, 226650 (3) 136350 Fibroblast growth factor receptor-1 (fms- Pfeiffer syndrome, 101600 (3); Jackson- 331131 related tyrosine kinase-2) Weiss sydnrome, 123150 (3) 147670 Insulin receptor Leprechaunism, 246200 (3); Rabson- 302130 Mendenhall syndrome, 262190 (3); Diabetes mellitus, insulin-resistant, with acanthosis nigricans (3) 134934 Fibroblast growth factor receptor-3 Achondroplasia, 100800 (3); 322130 Hypochondroplasia, 146000 (3); Thanatophoric dysplasia, types I and II, 187600 (3); Crouzon syndrome with acanthosis nigricans (3); Muencke syndrome, 602849 (3) 138981 Colony-stimulating factor-2 receptor, beta, Pulmonary alveolar proteinosis, 265120 (3) 301230 low-affinity 147730 Interleukin-2 receptor Interleukin-2 receptor, alpha chain, 301230 deficiency of (3) 176947 Zeta-chain associated protein kinase, 70kD Selective T-cell defect (3) 301230 (syk-related tyrosine kinase) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 16 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 138971 Colony-stimulating factor-3 receptor Kostmann neutropenia, 202700 (3) 331230 (granulocyte) 146661 Interleukin-7 receptor Severe combined immunodeficiency, T-cell 331230 negative, B-cell/natural killer cell-positive type, 600802 (3) 186740 CD3G antigen, gamma polypeptide (TiT3 Immunodeficiency due to defect in CD3- 331230 complex) gamma (3) 131244 Endothelin receptor type B Hirschsprung disease-2, 600155 (3) 332230 308380 Interleukin-2 receptor, gamma Severe combined immunodeficiency, X- 30323 linked, 300400 (3); Combined immunodeficiency, X-linked, moderate, 312863 (3) 107470 Immune interferon, receptor for Mycobacterial infection, atypical, familial 301330 disseminated, 209950 (3); BCG infection, generalized familial (3); {Tuberculosis, susceptibility to} (3) 147569 Interferon gamma receptor-2 (interferon Mycobacterial infection, atypical, familial 301330 gamma transducer 1) disseminated, 209950 (3) 601969 Deleted in malignant brain tumors 1 Glioblastoma multiforme, 137800 (3); 302330 Medulloblastoma, 155255 (3) 603673 Patched, drosophila, homolog of, 2 Medulloblastoma, 155255 (3); Basal cell 302330 carcinoma, 109400 (3) 186830 CD3E antigen, epsilon polypeptide (TiT3 Immunodeficiency, T-cell receptor/CD3 332330 complex) complex (3) 187040 T-cell acute lymphocytic leukemia-1 Leukemia-1, T-cell acute lymphocytic (3) 332330 164761 RET transforming sequence; oncogene Multiple endocrine neoplasia IIA, 171400 302431 RET (3); Medullary thyroid carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Hirschsprung disease, 142623 (3) 164860 Oncogene MET Renal cell carcinoma, papillary, familial and 302430 sporadic, 605074 (3); Hepatocellular carcinoma, childhood type, 114550 (3) 164920 Hardy-Zuckerman 4 feline sarcoma (v-kit) Piebaldism (3); Mast cell leukemia (3); 302430 oncogene Mastocytosis with associated hematologic disorder (3); Germ cell tumors, 273300 (3) 186880 T-cell antigen receptor, alpha polypeptide Leukemia/lymphoma, T-cell (3) 332430 600536 Integrin, alpha-7 Myopathy, congenital (3) 3311 0 600644 Herpesvirus entry mediator C (poliovirus Ectodermal dysplasia, Margarita Island 3311 1 receptor-related 1; nectin) type, 225060 (3); Zlotogora-Ogur syndrome, 225000 (3); Cleft lip/palate ectodermal dysplasia syndrome, 225000 (3) 168468 Parathyroid hormone receptor-1 Metaphyseal chondrodysplasia, Murk 3021 1 Jansen type, 156400 (3) 146740 Fc fragment of IgG, low affinity III, receptor {Lupus erythematosus, systemic, 3012 0 for (CD16) susceptibility}, 152700 (1); Neutropenia, alloimmune neonatal (3); {Viral infections, recurrent} (3) 603372 Thyroid-stimulating hormone receptor Hypothyroidism, congenital, due to TSH 3022 0 resistance, 275200 (3); Thyroid adenoma, hyperfunctioning (3); Graves disease, 275000 (1); Hyperthroidism, congenital (3) 601199 Calcium-sensing receptor Hypocalciuric hypercalcemia, type I, 3222 0 145980 (3); Neonatal hyperparathyroidism, 239200 (3); Hypocalcemia, autosomal dominant, 601198 (3) 138491 Glycine receptor, alpha-1 polypeptide Glycine receptor, alpha-1 polypeptide 3322 0 109690 Adrenergic, beta-2-, receptor, surface {Asthma, nocturnal, susceptibility to} (3); 3003 0 {Obesity, susceptibility to} (3) 139191 Growth hormone releasing hormone Growth hormone deficient dwarfism (3) 3313 0 receptor 191315 Neurotrophic tyrosine kinase, receptor, type Insensitivity to pain, congenital, with 3130 1 anhidrosis, 256800 (3); Medullary thyroid carcinoma, familial, 155240 (3) 100710 Cholinergic receptor, nicotinic, beta Myasthenic syndrome, slow-channel 3323 0 polypeptide-1, muscle congenital, 601462 (3) 173510 CD36 antigen (collagen type I) [Macrothrombocytopenia] (1); Platelet 3014 0 glycoprotein IV deficiency (3) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 17 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 100725 Cholinergic receptor, nicotinic, epsilon Myasthenic syndrome, slow-channel 3314 0 polypeptide congenital, 601462 (3) 114131 Calcitonin receptor {Osteoporosis, postmenopausal, 3105 0 susceptibility}, 166710 (3) 147440 Insulin-like growth factor-1, or Growth retardation with deafness and 401100 somatomedin C mental retardation (3) 152780 Luteinizing hormone, beta polypeptide Hypogonadism, hypergonadotropic (3); 432101 ?Male pseudohermaphroditism due to defective LH (1) 139250 Growth hormone-1 Isolated growth hormone deficiency, Illig 432200 type with absent GH and Kowarski type with bioinactive GH (3) 600957 Anti-Mullerian hormone Persistent Mullerian duct syndrome, type I, 421301 261550 (3) 114130 Calcitonin/calcitonin-related polypeptide, Osteoporosis (3) 400400 alpha 164160 Leptin (murine obesity homolog) Obesity, severe, due to leptin deficiency 401310 (3); Obesity, morbid, with hypogonadism (3) 176830 Proopiomelanocortin ACTH deficiency (1); Obesity, adrenal 401310 (adrenocorticotropin/beta-lipotropin) insufficiency, and red hair (3) 192340 Arginine vasopressin (neurophysin II, Diabetes insipidus, neurohypophyseal, 432310 antidiuretic hormone) 125700 (3) 600044 Thrombopoietin (megakaryocyte growth Thrombocythemia, essential, 187950 (3) 432310 and development factor) 188450 Thyroglobulin Hypothyroidism, hereditary congenital (3); 431220 Goiter, adolescent multinodular (1); Goiter, nonendemic, simple (3) 188540 Thyroid-stimulating hormone, beta Hypothyroidism, nongoitrous (3) 431220 polypeptide 106150 Angiotensinogen {Hypertension, essential, susceptibility to} 431420 (3); {Preeclampsia, susceptibility to} (3) 176730 Insulin Diabetes mellitus, rare form (1); MODY, 402420 one form (3); Hyperproinsulinemia, familial (3) 168450 Parathyroid hormone Hypoparathyroidism, autosomal 4022 0 dominant(3); Hypoparathyroidism, autosomal recessive (3) 107776 Aquaporin-1 (channel-forming integral Colton blood group, 110450 (3); [Aquaporin- 500 protein, 28kD) 1 deficiency] (3) 114208 Calcium channel, voltage-dependent, L Hypokalemic periodic paralysis, 170400 500 type, alpha 1S subunit (3); {Malignant hyperthermia susceptibility 5}, 601887 (3) 605080 Cyclic nucleotide-gated channel, beta-3 Achromatopsia-3, 262300 (3) 510 602232 Potassium voltage-gated channel, KQT-like Epilepsy, benign neonatal, type 2, 121201 510 subfamily, member-3 (3) 602235 Potassium voltage-gated channel, KQT-like Epilepsy, benign, neonatal, type 1, 121200 510 subfamily, member 2 (3) 600053 Cyclic nucleotide-gated channel, alpha-3 Achromatopsia-2, 216900 (3) 520 182389 Sodium channel, voltage-gated, type I, Epilepsy, generalized, with febrile seizures 530 alpha polypeptide plus, type 2, 604233 (3) 108730 ATPase, Ca++ transporting, fast-twitch, 1 Brody myopathy, 601003 (3) 540 123825 Cyclic nucleotide gated channel, alpha 1 Retinitis pigmentosa, autosomal recessive 540 (3) 603537 Potassium voltage-gated channel, KQT-like Deafness, autosomal dominant 2, 600101 540 subfamily, member 4 (3) 603796 Potassium voltage-gated channel, Isk- Long QT syndrome-6 (3) 540 related family, member 2 108740 ATPase, Ca++ dependent, slow-twitch, Darier disease, 124200 (3) 540 cardiac muscle-2 300110 Calcium channel, voltage-dependent, alpha-mucopolysaccharidosis II (3) 540 1F subunit 192132 ATPase, H+ transporting, lysosomal, beta Renal tubular acidosis with deafness, 520 polypeptide, 58kD (vacuolar proton pump, 267300 (3) subunit 3) 192500 Potassium voltage-gated channel, KQT-like Long QT syndrome-1 (3); Jervell and 520 subfamily, member 1 Lange-Nielsen syndrome, 220400 (3) 600359 Potassium inwardly-rectifying channel, Bartter syndrome, type 2 (3) 530 subfamily J, member 1 602023 Chloride channel, kidney, B Bartter syndrome, type 3 (3) 530 Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 18 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 600163 Sodium channel, voltage-gated, type V, Long QT syndrome-3, 603830 (3); Brugada 530 alpha polypeptide syndrome, 601144 (3); Heart block, progressive, 2, 604559 (3); Heart block, nonprogressive, 604559 (3) 152427 Potassium channel, voltage-gated, Long QT syndrome-2 (3) 540 subfamily H, member 2 (human ether-a-go- go-related gene) 170280 Perforin Hemophagocytic lymphohistiocytosis, 500 familial, 2, 603553 (3) 600228 Sodium channel, nonvoltage-gated 1, alpha Pseudohypoaldosteronism, type I, 264350 520 (3) 600760 Sodium channel, nonvoltage-gated 1, beta Liddle syndrome, 177200 (3); 520 a 600761 Sodium channel, nonvoltage-gated 1, Liddle syndrome, 177200 (3); 520 a gamma 176261 Potassium voltage-gated channel, Isk- Jervell and Lange-Nielsen syndrome, 530 related subfamily, member 1 220400 (3); Long QT syndrome-5 (3) 600937 Potassium inwardly-rectifying channel, Persistent hyperinsulinemic hypoglycemia 520 subfamily J, member 11 of infancy, 256450 (3) 118425 Chloride channel-1, skeletal muscle Myotonia congenita, recessive, 255700 (3); 530 Myotonia congenita, dominant, 160800 (3); Myotonia levior, recessive (3) 601949 Calcium channel, voltage-dependent, beta Epilepsy, juvenile myoclonic, 254770 (3); 530 4 subunit Epilepsy, generalize idiopathic, 600669 (3); Ataxia, episodic (3) 300008 Chloride channel-5 Dent disease, 300009 (3); Nephrolithiasis, 530 type I, 310468 (3); Hypophosphatemia, type III (3); Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (3) 107777 Aquaporin-2 (collecting duct) Diabetes insipidus, nephrogenic, autosomal 540 recessive, 222000 (3); Diabetes insipidus, nephrogenic, autosomal dominant, 125800 (3) 600839 Solute carrier family 12 Bartter syndrome, 241200 (3) 540 (sodium/potassium/chloride transporters), member 1 109270 Solute carrier family 4, anion exchanger, [Acanthocytosis, one form] (1); 540 member 1 (erythrocyte membrane protein [Elliptocytosis, Malaysian-Melanesian type] band 3, Diego blood group) (3); Spherocytosis, hereditary (3); Hemolytic anemia due to band 3 defect (3); Renal tubular acidosis, distal, 179800 (3) 176260 Potassium voltage-gated channel, shaker- Episodic ataxia/myokymia syndrome, 540 related subfamily, member 1 160120 (3) 600760 Sodium channel, nonvoltage-gated 1, beta Pseudohypoaldosteronism, type I, 264350 540 b (3) 600761 Sodium channel, nonvoltage-gated 1, Pseudohypoaldosteronism, type I, 264350 540 b gamma (3) 600235 Sodium channel, voltage-gated, type I, beta Generalized epilepsy with febrile seizures 530 polypeptide plus (3) 601011 Calcium channel, voltage-dependent, P/Q Hemiplegic migraine, familial, 141500 (3); 530 type, alpha 1A subunit Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia-6, 183086 (3); Cerebellar ataxia, pure (3) 601843 Solute carrier family 5 (sodium iodide Hypothyroidism, congenital, 274400 (3) 610 symporter), member-5 182380 Solute carrier family 5 (sodium/glucose Glucose/galactose malabsorption (3) 620 transporter), member 1 601691 ATP-binding transporter, retina-specific Stargardt disease-1, 248200 (3); Retinitis 630 pigmentosa-19, 601718 (3); Cone-rod dystrophy 3 (3); Macular dystrophy, age- related, 2, 153800 (3); Fundus flavimaculatus, 248200 (2) 602421 Cystic fibrosis transmembrane Cystic fibrosis, 219700 (3); Congenital 630 conductance regulator (ATP-binding bilateral absence of vas deferens, 277180 cassette, subfamily C, member 7) (3); Sweat chloride elevation without CF (3); {Pancreatitis, idiopathic} (3); {Hypertrypsinemia, neonatal} (3)

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 19 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 603967 Sodium channel, voltage-gated, type IV, Hyperkalemic periodic paralysis, 170500 630 alpha polypeptide (3); Paramyotonia congenita, 168300 (3); Myotonia congenita, atypical, acetazolamide-responsive (3); Cramps, familial, potassium-aggravated (3) 300135 ATP-binding cassette-7 Anemia, sideroblastic, with ataxia, 301310 630 (3) 171050 ATP-binding cassette, subfamily B, Colchicine resistance (3) 640 member 1 (P-glycoprotein-1/multiple drug resistance-1) 601107 ATP-binding cassette, subfamily C, Dubin-Johnson syndrome, 237500 (3) 64 member 2 (canalicular multispecific organic anion transporter) 603234 ATP-binding cassette, subfamily C, Pseudoxanthoma elasticum, autosomal 640 member 6 recessive, 264800 (3); Pseudoxanthoma elasticum, autosomal dominant, 177850 (3) 163970 Solute carrier family 6 (neurotransmitter Orthostatic intolerance, 604715 (3) 640 transporter, noradrenalin), member 2, cocaine- and antidepressant-sensitive 182138 Solute carrier family 6 (neurotransmitter Anxiety-related personality traits (3) 640 transporter, serotonin), member 4 604384 ATPase, Ca(2+)-sequestering Hailey-Hailey disease, 169600 (3) 640 138160 Solute carrier family 2 (facilitated glucose {Diabetes mellitus, noninsulin-dependent} 650 transporter), member 2 (3); Fanconi-Bickel syndrome, 227810 (3) 600046 ATP-binding cassette 1 Tangier disease, 205400 (3); HDL 60 deficiency, familial, 604091 (3) 222600 Solute carrier family 26 (sulfate Diastrophic dysplasia (3); Atelosteogenesis 610 transporter), member 2 (diastrophic II, 256050 (3); Achondrogenesis Ib, 600972 dysplasia sulfate transporter) (3); Epiphyseal dysplasia, multiple, 226900 (3) 602631 Solute carrier family 22, member 1-like Breast cancer, 114480 (3); 611 (Beckwith-Wiedemann region 1A; organic- Rhabdomyosarcoma, 268210 (3); Lung cation transporter-like 2) cancer, 211980 (3) 603861 Solute carrier family 25 (mitochondrial Hyperornithinemia-hyperammonemia- 620 carrier), member 15 (ornithine transporter homocitrullinemia syndrome, 238970 (3) 1) 603345 Solute carrier family 4, sodium bicarbonate Renal tubular acidosis, proximal, with 630 cotransporter, member 4 ocular abnormalities, 604278 (3) 138190 Solute carrier family 2 (facilitated glucose {Diabetes mellitus, noninsulin-dependent} 640 transporter), member 4 (3) 603593 Solute carrier family 7 (cationic amino acid Lysinuric protein intolerance, 222700 (3) 620 transporter, y+ system), member 7 603941 Solute carrier family 19 (folate transporter), Thiamine-responsive megaloblastic anemia 631 member 2 syndrome, 249270 (3) 277900 ATPase, Cu++ transporting, beta Wilson disease (3) 63 polypeptide 104614 Solute carrier family 3 (cystine, dibasic and Cystinuria, 220100 (3) 640 neutral amino acid transporters), member 1 604144 Solute carrier family 7 (cationic amino acid Cystinuria, type III (3); Cystinuria, type II (3) 640 transporter, y+ system), member 9 300011 ATPase, Cu++ transporting, alpha Menkes disease, 309400 (3); Occipital horn 61 polypeptide syndrome, 304150 (3); Cutis laxa, neonatal (3) 171060 ATP-binding cassette, subfamily B, Cholestasis, progressive familial 620 member 4 (P-glycoprotein-3/multiple drug intrahepatic, type III, 602347 (3); resistance-3) Cholestasis, familial intrahepatic, of pregnancy, 147480 (3) 600509 ATP-binding cassette, subfamily C, Persistent hyperinsulinemic hypoglycemia 620 member 8 (sulfonylurea receptor) of infancy, 256450 (3) 602397 Familial intrahepatic cholestasis-1 Cholestasis, progressive familial 62 intrahepatic-1, 211600 (3); Cholestasis, benign recurrent intrahepatic, 243300 (3) 603377 Solute carrier, family 22 (organic cation Carnitine deficiency, systemic primary, 620 transporter), member 5 212140 (3) 138140 Solute carrier family 2 (facilitated glucose Glucose transport defect, blood-brain 620 transporter), member 1 barrier (3) 604592 T-cell immune regulator 1 Osteopetrosis, recessive, 259700 (3) 630 603201 ATP-binding cassette, subfamily B, Progressive intrahepatic cholestasis-2, 630 member 11 (bile salt export pump) 601847 (3) 300100 ATP-binding cassette, subfamily D, Adrenoleukodystrophy (3); 63 Copyrightmember  2001 1 Johns Hopkins University. All rightsAdrenom reservedyeloneuropathy (3) Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 20 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 603859 Solute carrier family 25 (mitochondrial Citrullinemia, adult-onset type II, 603471 640 carrier, citrin), member 13 (3) 274600 Pendrin Pendred syndrome (3); Deafness, 62 autosomal recessive 4, 600791 (3); Enlarged vestibular aqueduct, 603545 (3) 601295 Solute carrier family 10 (sodium/bile acid Bile acid malabsorption, primary (3) 620 cotransporter family), member 2 604322 Solute carrier family 17 (sodium Salla disease, 604369 (3); Sialic acid 63 phosphate), member 5 storage disorder, infantile, 269920 (3) 103220 Solute carrier family 25 (mitochondrial Progressive external ophthalmoplegia, type 630 carrier) member 4 (adenine nucleotide 3, 601227 (3) translocator-1, skeletal muscle) 180297 Rhesus blood group-associated Anemia, hemolytic, Rh-null, suppressor 630 glycoprotein type, 268150 (3); Rh(mod) syndrome (3) 600968 Solute carrier family 12 Gitelman syndrome, 263800 (3) 640 (sodium/potassium/chloride transporters), member 3 134790 Ferritin, light chain Hyperferritinemia-cataract syndrome, 710 600886 (3) 118470 Cholesteryl ester transfer protein, plasma [CETP deficiency] (3) 72 140100 Haptoglobin [Anhaptoglobinemia] (3); 720 [Hypohaptogloginemia] (3) 107720 Apolipoprotein C-III Hypertriglyceridemia (3) 750 138700 Apolipoprotein H (beta-2-glycoprotein I) [Apolipoprotein H deficiency] (3) 760 107680 Apolipoprotein A-I ApoA-I and apoC-III deficiency, combined 73 (3); Hypertriglyceridemia, one form (3); Hypoalphalipoproteinemia (3); Corneal clouding, autosomal recessive (3); Amyloidosis, 3 or more types (3) 107741 Apolipoprotein E Hyperlipoproteinemia, type III (3); 74 {Myocardial infarction susceptibility} (3) 176300 Transthyretin (prealbumin) Amyloid neuropathy, familial, several allelic 740 types (3); [Dystransthyretinemic hyperthyroxinemia](3); Amyloidosis, senile systemic (3); Carpal tunnel syndrome, familial (3) 275350 Transcobalamin II Transcobalamin II deficiency (3) 72 107670 Apolipoprotein A-II Apolipoprotein A-II deficiency (3) 74 180250 Retinol-binding protein-4, interstitial Retinol binding protein, deficiency of (3) 740 603557 Myotubularin-related protein 2 Charcot-Marie-Tooth disease, type 4B, 801000 601382 (3) 300206 Il-1 receptor accessory protein-like Mental retardation, X-linked 1, non- 803000 dysmorphic, 309530 (3) 603681 Otoferlin Deafness, autosomal recessive 9, 601071 801100 (3) 603780 RecQ protein-like 4 (DNA helicase, RecQ- Rothmund-Thomson syndrome, 268400 (3) 801101 like, type 4) 300000 Midline-1 Opitz G syndrome, type I (3) 803101 126650 Down-regulated in adenoma ?Colon cancer (1); Chloride diarrhea, 811200 congenital, Finnish type, 214700 (3) 602997 Cubilin (intrinsic factor-cobalamin receptor) Megaloblastic anemia-1, 261100 (3) 831201 139320 Guanine nucleotide-binding protein (G Pseudohypoparathyroidism, type Ia, 8 3220 protein), alpha-stimulating activity 103580 (3); McCune-Albright polyostotic polypeptide-1 fibrous dysplasia, 174800 (3); Somatotrophinoma (3); Pituitary ACTH secreting adenoma (3) 604490 Sacsin Spastic ataxia, Charlevoix-Saguenay type, 811300 270550 (3) 228960 Kininogen [Kininogen deficiency] (3) 831300 159440 Myelin protein zero Charcot-Marie-Tooth neuropathy-1B, 812300 118200 (3); Dejerine-Sottas disease, myelin P(0)-related, 145900 (3); Hypomyelination, congenital (3) 128100 Dystonia-1, torsion, autosomal dominant Dystonia-1, torsion (3) 822300 139330 Guanine nucleotide-binding protein (G Night blindness, congenital stationary (3) 832300 protein), alpha-transducing (transducin) activity polypeptide-1

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 21 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 304700 Translocase of inner mitochondrial Deafness, X-linked 1, progressive (3); Mohr- 833300 membrane 8, yeast, homolog of, A Tranebjaerg syndrome (3); Jensen syndrome, 311150 (3) 605010 Serine protease inhibitor, Kazal type, 5 Netherton syndrome, 256500 (3) 801400 134830 Fibrinogen, beta polypeptide Dysfibrinogenemia, beta type (3); 831400 Afibrinogenemia, congenital, 202400 (3) 602544 Parkin Parkinson disease, juvenile, type 2, 600116 831400 (3) 602783 Paraplegin Spastic paraplegia-7 (3) 831400 134820 Fibrinogen, alpha polypeptide Dysfibrinogenemia, alpha type, causing 832400 bleeding diathesis (3); Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3); Amyloidosis, hereditary renal, 105200 (3); Afibrinogenemia (3) 134850 Fibrinogen, gamma polypeptide Dysfibrinogenemia, gamma type (3); 832400 Hypofibrinogenemia, gamma type (3) 188826 Tissue inhibitor of metalloproteinase-3 Sorsby fundus dystrophy, 136900 (3) 832400 600119 Sarcoglycan, alpha (50kD dystrophin- Muscular dystrophy, Duchenne-like, type 2 832400 associated glycoprotein; adhalin) (3); Adhalinopathy, primary (1) 300096 Transmembrane 4 superfamily, member 2 Mental retardation, X-linked nonspecific (3) 803400 312610 Retinitis pigmentosa GTPase regulator Retinitis pigmentosa-3 (3) 823400 GTPase protein 300104 GDP dissociation inhibitor 1 Mental retardation, X-linked nonspecific, 833400 309541 (3) 147575 Interferon regulatory factor-1 Macrocytic anemia refractory, of 5q- 802500 syndrome, 153550 (3); Myelodysplastic syndrome, preleukemic (3); Myelogenous leukemia, acute (3) ; Gastric cancer, 137215 (3); Nonsmall cell lung cancer (3) 602279 Poly(A)-binding protein-2 Oculopharyngeal muscular dystorphy, 832500 164300 (3); Oculopharyngeal muscular dystrophy, autosomal recessive, 257950 (3) 234000 Coagulation factor XII (Hageman factor) Factor XII deficiency (3) 831600 600856 Cyclin-dependent kinase inhibitor 1C (p57, Beckwith-Wiedemann syndrome, 130650 832111 Kip2) (3) 164009 Nuclear mitotic apparatus protein-1 Leukemia, acute promyelocytic, 832210 NUMA/RARA type (3) 308230 Tumor necrosis factor ligand superfamily, Immunodeficiency, X-linked, with hyper-IgM 833210 member 5 (3) 308240 SH2 domain protein 1A Lymphoproliferative syndrome, X-linked (3) 833210 601411 Sarcoglycan, delta (35kD dystrophin- Muscular dystrophy, limb-girdle, type 2F, 821310 associated glycoprotein) 601287 (3) 600811 Damage-specific DNA binding protein 2, Xeroderma pigmentosum, group E, DDB- 831310 48kD negative subtype, 278740 (3) 139360 Guanine nucleotide-binding protein (G Pituitary ACTH-secreting adenoma (3); 832310 protein), alpha-inhibiting activity Ventricular tachycardia, idiopathic, 192605 polypeptide-2 (3) 601253 Caveolin-3 Muscular dystrophy, limb-girdle, type IC (3) 832310 300202 Sedlin Spondyloepiphyseal dysplasia tarda, 803310 313400 (3) 604611 RecQ protein-like 3 Werner syndrome, 277700 (3) 801410 207750 Apolipoprotein C-II Hyperlipoproteinemia, type Ib (3) 831410 106100 Complement component-1 inhibitor Angioedema, hereditary (3) 802410 602445 Protease inhibitor 12 Encephalopathy, familial, with neuroserpin 802410 inclusion bodies, 604218 (3) 603615 RAD54, S. cerevisiae, homolog-like Lymphoma, non-Hodgkin (3); Breast 802410 cancer, invasive intraductal (3); Colon adenocarcinoma (3) 107300 Antithrombin III Antithrombin III deficiency (3) 81241 123590 Crystallin, alpha B Myopathy, desmin-related, cardioskeletal, 832410 601419 (3) 188040 Thrombomodulin Thrombophilia due to thrombomodulin 832410 defect (3); {Myocardial infarction, susceptibility to} (3) 176880 Protein S, alpha Protein S deficiency (3) 80202

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 22 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 601789 Peroxisome biogenesis factor 13 (peroxin Zellweger syndrome, 214100 (3); 821121 13) Adrenoleukodystrophy, neonatal, 202370 (3) 131195 Endoglin Hereditary hemorrhagic telangiectasia-1, 832120 187300 (3) 601498 Peroxisomal biogenesis factor 6 Peroxisomal biogenesis disorder, 801220 (peroxisomal AAA-type ATPase 1) complementation group 4 (3) 301000 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome (3); 8 3322 Thrombocytopenia, X-linked, 313900 (3) 126340 Excision repair cross complementing Xeroderma pigmentosum, group D, 278730 801320 rodent repair deficiency, complementation (3); Trichothiodystrophy, 601675 (3) group-2 601145 Cystatin B (stefin B) Epilepsy, progressive myoclonic 1, 254800 801320 (3) 602700 E1A-binding protein, 300kD Colorectal cancer, 114500 (3) 801320 600900 Sarcoglycan, beta (43kD dystrophin- Muscular dystrophy, limb-girdle, type 2E, 821320 associated glycoprotein) 604286 (3) 249100 Pyrin (marenostrin) Familial Mediterranean fever (3) 831320 253700 Sarcoglycan, gamma (35kD dystrophin- Muscular dystrophy, limb-girdle, type 2C (3) 831320 associated glycoprotein) 278700 Xeroderma pigmentosum, Xeroderma pigmentosum, group A (3) 831320 complementation group A 278720 Xeroderma pigmentosum, Xeroderma pigmentosum, group C (3) 831320 complementation group C 604610 RecQ protein-like 2 Bloom syndrome, 210900 (3) 831320 167790 Serine protease inhibitor, Kazal type I Pancreatitis, hereditary, 167800 (3) 802320 (pancreatic secretory trypsin inhibitor) 133520 Excision-repair, complementing defective, Xeroderma pigmentosum, group F, 278760 832320 in Chinese hamster, number 4 (3) 300126 Dyskerin Dyskeratosis congenita-1, 305000 (3); 833320 Hoyeraal-Hreidarsson, 300240 (3) 603816 Axis inhibitor 1 Hepatocellular carcinoma, 114550 (3) 801420 604142 TYRO protein tyrosine kinase-binding Polycystic lipomembranous osteodysplasia 801420 protein with sclerosing leukenencephalophathy, 221770 (3) 133701 Exostoses, multiple, 2 Exostoses, multiple, type 2 (3) 831420 262850 Alpha-2-plasmin inhibitor Plasmin inhibitor deficiency (3) 831420 600160 Cyclin-dependent kinase inhibitor 2A (p16, Melanoma, 155601 (3) 831420 inhibits CDK4) 604373 Checkpoint kinase 2 Li-Fraumeni syndrome, 151623 (3) 831420 126337 DNA-damage-inducible transcript-3 Myxoid liposarcoma (3) 802420 142360 Heparin cofactor II Thrombophilia due to heparin cofactor II 802420 deficiency (3) 142380 Hepatitis B virus integration site-6 Hepatocellular carcinoma (3) 802420 147545 Insulin receptor substrate-1 {Diabetes mellitus, noninsulin-dependent} 802420 (3) 600678 MutS, E. coli, homolog of, 6 {Cancer susceptibility} (3); Endometrial 802420 carcinoma (3) 604289 RAD54, S. cerevisiae, homolog of, B Lymphoma, non-Hodgkin (3); Colon 802420 adenocarcinoma (3) 604312 Cystatin C Cerebral amyloid angiopathy, 105150 (3) 802420 600185 Breast cancer-2, early onset Breast cancer 2, early onset (3); Pancreatic 812420 cancer (3) 600258 Postmeiotic segregation increased, S. Colorectal cancer, hereditary nonpolyposis, 822420 cerevisiae, like 1 type 3 (3) 600259 Postmeiotic segregation increased, S. Turcot syndrome with glioblastoma, 276300 822420 cerevisiae, 2, homolog of (3); Colorectal cancer, hereditary nonpolyposis, type 4 (3) 600958 Myosin-binding protein C, cardiac Cardiomyopathy, familial hypertrophic, 4, 822420 115197 (3) 125370 Atrophin 1 Dentatorubro-pallidoluysian atrophy (3) 832420 131100 Menin Multiple endocrine neoplasia I (3); 832420 Hyperparathyroidism, AD, 145000 (3); Prolactinoma, hyperparathyroidism, carcinoid syndrome (2); Carcinoid tumor of lung (3) 133510 Excision-repair cross-complementing Xeroderma pigmentosum, group B (3); 832420 rodent repair deficiency, complementation Trichothiodystrophy (3) Copyrightgrou p 3 2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 23 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 139150 RAS p21 protein activator 1 (GTPase Basal cell carcinoma (3) 832420 activating protein) 600040 BCL2-associated X protein Colorectal cancer (3); T-cell acute 832420 lymphoblastic leukemia (3) 305400 Faciogenital dysplasia (Aarskog-Scott Aarskog-Scott syndrome (3) 833421 syndrome) 311770 Phosphatidylinositol glycan, class A Paroxysmal nocturnal hemoglobinuria (3) 833420 139130 Guanine nucleotide-binding protein, beta {Hypertension, essential, susceptibility to}, 81 420 polypeptide-3 145500 (3) 601757 Peroxisomal biogenesis factor-7 Rhizomelic chondrodysplasia punctata, 821131 type 1, 215100 (3) 602136 Peroxisome biogenesis factor-1 Zellweger syndrome-1, 214100 (3); 831131 Adrenoleukodystrophy, neonatal, 202370 (3); Refsum disease, infantile, 266510 (3) 602768 Delta, drosophila, homolog of Spondylocostal dysostosis, autosomal 831131 recessive, 1, 277300 (3) 602859 Peroxisome biogenesis factor 10 Zellweger syndrome, 214100 (3); 831131 Adrenoleukodystrophy, neonatal, 202370 (3) 604896 McKusick-Kaufman syndrome gene McKusick-Kaufman syndrome (3) 831131 602091 Latent transforming growth factor beta Marfan syndrome, atypical (3) 832131 binding protein-2 310400 Myotubularin Myotubular myopathy, X-linked (3) 803130 Tyrosine phosphatase 603868 Ras-associated protein RAB27A Griscelli syndrome, 214450 (3) 801230 604032 Eukaryotic translation initiation factor 2- Wolcott-Rallison syndrome, 226980 (3) 801230 alpha kinase 3 602716 Nephrin Nephrosis-1, congenital, Finnish type, 811230 256300 (3) 272750 GM2 ganglioside activator protein GM2-gangliosidosis, AB variant (3) 83123 600617 Steroidogenic acute regulatory protein Lipoid adrenal hyperplasia, 201710 (3) 831230 603200 Regulatory factor X, ankyrin repeat- MHC class II deficiency, complementation 802230 containing group B, 209920 (3) 603025 Clathrin assembly lymphoid-myeloid Leukemia, acute myeloid (3); Leukemia, 801330 leukemia gene acute T-cell lymphoblastic (3) 604272 SCO2, S. cerevisiae, homolog of Cardioencephalomyopathy, fatal infantile, 801330 due to cytochrome c oxidase deficiency, 604377 (3) 602956 X-ray repair, complementing defective, in Fanconi anemia, complementation group G 821331 Chinese hamster, 9 (3) 176801 Prosaposin (sphingolipid activator protein- Metachromatic leukodystrophy due to 83133 1) deficiency of SAP-1 (3); Gaucher disease, variant form (3) 217030 I factor (complement component I) C3b inactivator deficiency (3) 831330 603467 Fanconi anemia, complementation group F Fanconi anemia, complementation group F 831331 (3) 604763 Rho guanine nucleotide exchange factor, Leukemia, acute myeloid (3) 80233 leukemia-associated 133530 Excision-repair, complementing defective, Xeroderma pigmentosum, group G, 278780 832330 in Chinese hamster, number 5 (3) 603474 Ribosomal protein S19 Anemia, Diamond-Blackfan, 105650 (3) 832331 306900 Coagulation factor IX (plasma Hemophilia B (3); Warfarin sensitivity (3) 82333 thromboplastic component) 604515 B-cell linker protein (SH2 domain- Hypoglobulinemia and absent B cells (3) 801430 containing leukocyte protein, 65kD) 116806 Catenin (cadherin-associated protein), beta Colorectal cancer (3); Hepatoblastoma (3); 802530 1, 88kD Pilomatricoma (3); Ovarian carcinoma, endometrioid type (3) 175100 Adenomatous polyposis coli Gardner syndrome (3); Adenomatous 81253 polyposis coli (3); Colorectal cancer (3); Desmoid disease, hereditary, 135290 (3); Turcot syndrome, 276300 (3); Adenomatous polyposis coli, attenuated (3)

134370 H factor-1 (complement factor H) Factor H deficiency (1); 8010 Membroproliferative glomerulonephritis (1); Hemolytic-uremic syndrome, 235400 (3); Nephropathy, chronic hypocomplementemic (3) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 24 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 603401 Adaptin, beta-3A Hermansky-Pudlak syndrome, 203300 (3) 8 010 604982 Hermansky-Pudlak syndrome gene Hermansky-Pudlak syndrome, 203300 (3) 8 010 181031 S-antigen; retina and pineal gland (arrestin) Oguchi disease-1, 258100 (3) 8310 0 160781 Myosin, light polypeptide-2, regulatory, Cardiomyopathy, hypertrophic, mid-left 8320 0 cardiac, slow ventricular chamber type (3) 312060 Properdin P factor, complement Properdin deficiency, X-linked (3) 8030 600814 Meiotic recombination 11, S. cerevisiae, Ataxia-telangiectasia-like disorder, 604391 8313 0 homolog A of (3) 103950 Alpha-2-macroglobulin Emphysema due to alpha-2-macroglobulin 8024 0 deficiency (1); {Alzheimer disease, susceptibility to} (3) 160790 Myosin, light polypeptide-3, alkali; Cardiomopathy, hypertrophic, mid- 8324 0 ventricular, skeletal, slow ventricular chamber type (3) 600364 Guanylate cyclase activator 1A, retina Cone dystrophy-3, 602093 (3) 8324 0 104150 Alpha-fetoprotein [AFP deficiency, congenital] (1); [Hereditary 910 persistence of alpha-fetoprotein] (3)

142000 Hemoglobin delta Thalassemia, delta- (3); Thalassemia due 920 to Hb Lepore (3) 142200 Hemoglobin, gamma A HPFH, nondeletion type A (3) 920 142250 Hemoglobin, gamma G HPFH, nondeletion type G (3) 920 309550 Fragile X mental retardation-1 Fragile X syndrome (3) 93 600342 Retinal G protein coupled receptor Retinitis pigmentosa, autosomal recessive 940 (3); Retinitis pigmentosa, autosomal dominant (3) 602667 Nibrin Nijmegen breakage syndrome, 251260 (3) 911 141800 Hemoglobin alpha-1 Thalassemias, alpha- (3); 920 Methemoglobinemias, alpha- (3); Erythremias, alpha- (3); Heinz body anemias, alpha- (3) 141850 Hemoglobin alpha-2 Thalassemia, alpha- (3); Erythrocytosis (3); 920 Heinz body anemia (3); Hemoglobin H disease (3); Hypochromic microcytic anemia (3) 601567 Lectin, mannose-binding, 1 Combined factor V and VIII deficiency, 930 227300 (3) 173515 Glycoprotein IX, platelet Bernard-Soulier syndrome, type C (3) 940 600415 Tocopherol, alpha, transfer protein Ataxia with isolated vitamin E deficiency, 940 277460 (3) 182279 Small nuclear ribonucleoprotein Prader-Willi syndrome, 176270 (3) 911 polypeptide N 141900 Hemoglobin beta Sickle cell anemia (3); Thalassemias, beta- 930 (3); Methemoglobinemias, beta- (3); Erythremias, beta- (3); Heinz body anemias, beta- (3); HPFH, deletion type (3) 300075 Ribosomal protein S6 kinase, 90kD, Coffin-Lowry syndrome, 303600 (3); Mental 930 polypeptide 3 retardation, X-linked nonspecific, type 19 (3) 603517 B-cell leukemia/lymphoma 10 Lymphoma, MALT (3); Lymphoma, 940 follicular (3); Mesothelioma (3); Germ cell tumor (3); Sezary syndrome (3); Colon 178640 Pulmonary surfactant-associated protein B, Pulmonary alveolar proteinosis, congenital, 910 18kD 265120 (3) 227645 Fanconi anemia, complementation group C Fanconi anemia, type C (3) 911 227650 Fanconi anemia, complementation group A Fanconi anemia, type A (3) 911 600414 Peroxisome receptor 1 Adrenoleukodystrophy, neonatal, 202370 910 (3) 601607 SWI/SNF related, matrix associated, actin Rhabdoid tumors (3); Rhabdoid 930 dependent regulator of chromatin, predisposition syndrome, familial (3) subfamily b, member 1 164790 Neuroblastoma RAS viral (v-ras) oncogene Colorectal cancer (3) 940 homolog 120435 mutS, E. coli, homolog of, 2 Colorectal cancer, hereditary, 940 nonpolyposis, type 1 (3); Ovarian cancer (3); Muir-Torre syndrome, 158320 (3)

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 25 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 120436 mutL, E. coli, homolog of, 1 Colorectal cancer, hereditary nonpolyposis, 940 type 2 (3); Turcot syndrome with glioblastoma, 276300 (3); Muir-Torre family cancer syndrome, 158320 (3); Leukemia (3) 176705 Prohibitin Breast cancer, sporadic (3) 940 107271 CD59 antigen (p18-20) CD59 deficiency (3) 90 120940 Complement component-9 C9 deficiency (3) 900 120960 Complement component-8, beta C8 deficiency, type II (3) 900 polypeptide 103600 Albumin Analbuminemia (3); [Dysalbuminemic 920 hyperthyroxinemia] (3); [Dysalbuminemic hyperzincemia], 194470 (3) 157147 Microsomal triglyceride transfer protein, Abetalipoproteinemia, 200100 (3) 93 88kD 176640 Prion protein (p27-30) Creutzfeldt-Jakob disease, 123400 (3); 94 Gerstmann-Straussler disease, 137440 (3); Insomnia, fatal familial (3) 120190 Collagen V, alpha-2 polypeptide Ehlers-Danlos syndrome, type I, 130000 (3) 10 0

602574 Tectorin, alpha Deafness, autosomal dominant 8, 601543 10 0 0 (3); Deafness, autosomal dominant 12, 601842 (3); Deafness, autosomal recessive 21, 603629 (3) 120120 Collagen VII, alpha-1 polypeptide Epidermolysis bullosa dystrophica, 10 1 0 dominant, 131750 (3); Epidermolysis bullosa dystrophica, recessive, 226600 (3); Epidermolysis bullosa, pretibial, dominant and recessive, 131850 (3) 121015 Gap junction protein, alpha-3, 46kD Cataract, zonular pulverulent-3, 601885 (3) 10 1 1 (connexin 46) 600310 Cartilage oligomeric matrix protein Pseudoachondroplasia, 177170 (3); 10 1 0 Epiphyseal dysplasia, multiple 1, 132400 (3) 603324 Gap junction protein, beta-3 Erythrokeratodermia variabilis, 133200 (3); 10 1 0 Deafness, autosomal dominant 2, 600101 (3); Deafness, autosomal recessive (3) 121011 Gap junction protein, beta-2, 26kD Deafness, autosomal recessive 1, 220290 10 2 0 (connexin 26) (3); Deafness, autosomal dominant 3, 601544 (3); Vohwinkel syndrome, 124500 (3); Keratoderma, palmoplantar, with deafness, 148350 (3) 120110 Collagen X, alpha-1 polypeptide Metaphyseal chondrodysplasia, Schmid 10 2 1 type (3); Spondylometaphyseal dysplasia, Japanese type (3) 120220 Collagen VI, alpha-1 polypeptide Bethlem myopathy, 158810 (3) 10 2 0 120240 Collagen VI, alpha-2 polypeptide Bethlem myopathy, 158810 (3) 10 2 0 120250 Collagen VI, alpha-3 polypeptide Bethlem myopathy, 158810 (3) 10 2 0 120260 Collagen IX, alpha-2 polypeptide Epiphyseal dysplasia, multiple, type 2, 10 2 0 600204 (3); Intervertebral disc disease, 603932 (3) 120270 Collagen IX, alpha-3 polypeptide Epiphyseal dysplasia, multiple, 3, 600969 10 2 0 (3); Epiphyseal dysplasia, multiple, with myopathy (3) 193400 Coagulation factor VIII VWF (von von Willebrand disease (3) 10 2 0 Willebrand factor) 152445 Loricrin Vohwinkel syndrome with ichthyosis, 10 2 0 604117 (3); Erythrokeratoderma, progressive symmetric, 602036 (3) 600261 Tenascin XA Ehlers-Danlos-like syndrome (3) 10 2 0 600897 Gap junction membrane channel protein Cataract, zonular pulverulent-1, 116200 (3) 10 2 0 alpha-8 (connexin 50) 120131 Collagen IV, alpha-4 polypeptide Alport syndrome, autosomal recessive, 10 3 0 203780 (3); Hematuria, familial benign (3) 601975 Plakophilin-1 Ectodermal dysplasia/skin fragility 10 3 0 syndrome, 604536 (3) 603288 Keratocan Cornea plana congenita, recessive, 217300 10 3 0 (3)

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 26 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 604418 Gap junction protein, beta-6 (connexin-30) Deafness, autosomal dominant 10 3 0 nonsyndromic sensorineural 3, 601544 (3) 125647 Desmoplakin Keratosis palmoplantaris striata II (3) 10 3 0 304040 Gap junction protein, beta-1, 32kD Charcot-Marie-Tooth neuropathy, X-linked- 10 3 0 (connexin 32) 1, dominant, 302800 (3) 604210 Crumbs, drosophila, homolog of, 1 Retinitis pigmentosa-12, autosomal 10 4 0 recessive, 600105 (3) 276901 Usherin Usher syndrome, type 2A (3) 10 4 0 601692 Transforming growth factor, beta-induced, Corneal dystrophy, Groenouw type I, 10 4 0 68kD 121900 (3); Corneal dystrophy, lattice type I, 122200 (3); Corneal dystrophy, Reis- Bucklers type, 121900 (3); Corneal dystrophy, Avellino type (3) 156225 Laminin, alpha-2 (merosin) Muscular dystrophy, congenital merosin- 10 4 0 deficient (3) 601548 EGF-containing fibulin-like extracellular Doyne honeycomb degeneration of retina, 10 4 0 matrix protein 1 (fibrillin-like) 126600 (3) 603196 Cochlin Deafness, autosomal dominant 9, 601369 10 4 0 (3); Meniere disease, 156000 (3) 312700 Retinoschisis Retinoschisis (3) 10 4 0 cell-cell adhesion 125670 Desmoglein-1 Keratosis palmoplantaris striata I, 148700 10 0 (3) 308840 L1 cell adhesion molecule Hydrocephalus due to aqueductal stenosis, 10 1 1 307000 (3); MASA syndrome, 303350 (3); Spastic paraplegia, 312900 (3) 120180 Collagen III, alpha-1 polypeptide Ehlers-Danlos syndrome, type IV, 130050 10 2 (3); Ehlers-Danlos syndrome, type III, 130020 (3); Aneurysm, familial arterial (3) 120215 Collagen V, alpha-1 polypeptide Ehlers-Danlos syndrome, type II, 130010 10 2 (3); Ehlers-Danlos syndrome, type I, 130000 (3) 150292 Laminin, gamma-2 (nicein, 100kD; kalinin, Epidermolysis bullosa, Herlitz junctional 10 1 0 105kD; BM600, 100kD) type, 226700 (3) 121050 Fibrillin-2 Contractural arachnodactyly, congenital (3) 10 1 1

134797 Fibrillin-1 Marfan syndrome, 154700 (3); Shprintzen- 10 1 Goldberg syndrome, 182212 (3); Ectopia lentis, familial (3) 147840 Intercellular adhesion molecule-1 {Malaria, cerebral, susceptibility to} (3) 10 3 0 601313 Polycystin-1 Polycystic kidney disease, adult type I, 10 3 0 173900 (3) Cell-cell/matrix interaction 303630 Collagen IV, alpha-5 polypeptide Alport syndrome, 301050 (3) 10 3 0 303631 Collagen IV, alpha-6 polypeptide Leiomyomatosis, diffuse, with Alport 10 3 0 syndrome, 308940 (3) 104760 Amyloid beta (A4) precursor protein Amyloidosis, cerebroarterial, Dutch type 10 4 0 (3); Alzheimer disease-1, APP-related (3); Schizophrenia, chronic (3) 192090 Cadherin-1 (E-cadherin; uvomorulin) Endometrial carcinoma (3); Ovarian 10 4 0 carcinoma (3); Breast cancer, lobular (3); Gastric cancer, familial, 137215 (3) 120470 Deleted in colorectal carcinoma Colorectal cancer (3) 10 0 0 150310 Laminin, beta-3 (nicein, 125kD; kalinin, Epidermolysis bullosa, Herlitz junctional 10 1 0 140kD; BM600, 125kD) type, 226700 (3); Epidermolysis bullosa, generalized atrophic benign, 226650 (3) 600805 Laminin, alpha-3 (nicein, 150kD; kalinin, Epidermolysis bullosa, junctional, Herlitz 10 1 0 165kD; BM600, 150kD; epilegrin) type (3) 120140 Collagen II, alpha-1 polypeptide Stickler syndrome, type I (3); SED 10 1 congenita (3); Kniest dysplasia (3); Achondrogenesis-hypochondrogenesis, type II (3); Osteoarthrosis, precocious (3); Wagner syndrome, type II (3); SMED Strudwick type (3) 300037 Glypican 3 Simpson-Golabi-Behmel syndrome, type 1, 10 1 1 312870 (3) 120070 Collagen IV, alpha-3 polypeptide Alport syndrome, autosomal recessive, 10 3 0 (Goodpasture antigen) 203780 (3) 604766 Podocin Nephrotic syndrome, steroid-resistant, 10 3 0 600995 (3) Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 27 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 120150 Collagen I, alpha-1 polypeptide Osteogenesis imperfecta, 4 clinical forms, 10 0 166200, 166210, 259420, 166220 (3); Ehlers-Danlos syndrome, types I and VIIA, 130000, 130060 (3); Osteoporosis, idiopathic, 166710 (3) 120280 Collagen XI, alpha-1 polypeptide Stickler syndrome, type II, 604841 (3); 10 1 1 Marshall syndrome, 154780 (3) 120290 Collagen XI, alpha-2 polypeptide Stickler syndrome, type III, 184840 (3); 10 1 1 OSMED syndrome, 215150 (3); Weissenbacher-Zweymuller syndrome, 277610 (3); Deafness, nonsyndromic sensorineural 13, 601868 (3) 120160 Collagen I, alpha-2 polypeptide Osteogenesis imperfecta, 3 clinical forms, 10 1 166200, 166210, 259420 (3); Ehlers- Danlos syndrome, type VIIA2, 130060 (3); Osteoporosis, idiopathic, 166710 (3); Marfan syndrome, atypical (3) 130160 Elastin Supravalvar aortic stenosis, 185500 (3); 10 2 Williams-Beuren syndrome, 194050 (3); Cutis laxa, 123700 (3) 308700 Kallmann syndrome-1 sequence (anosmin- Kallmann syndrome (3) 10 4 1) 179605 Retinal degeneration, slow (peripherin) Retinitis pigmentosa-7, peripherin-related 11 0 (3); Retinitis punctata albescens (3); Macular dystrophy (3); Retinitis pigmentosa, digenic (3); Butterfly dystrophy, retinal (3) 180721 Rod outer segment membrane protein-1 Retinitis pigmentosa, digenic (3) 11 0 0 602666 Myosin XV Deafness, autosomal recessive 3, 600316 11 1 0 (3) 154050 Major intrinsic protein of lens fiber Cataract, polymorphic and lamellar, 604219 11 1 0 (3) 123580 Crystallin, alpha A Cataract, congenital, autosomal dominant 11 1 0 (3) 600194 Keratin-2A Ichthyosis bullosa of Siemens, 146800 (3) 11 1 0 182900 Ankyrin-1, erythrocytic Spherocytosis-2 (3) 11 2 0 601687 Keratin-12 Meesmann corneal dystrophy, 122100 (3) 11 2 0 123610 Crystallin, beta A1 Cataract, congenital zonular, with sutural 11 2 0 opacities, 600881 (3) 182860 Spectrin, alpha, erythrocytic-1 Elliptocytosis-2 (3); Pyropoikilocytosis (3); 11 2 0 Spherocytosis, recessive (3) 182870 Spectrin, beta, erythrocytic Elliptocytosis-3 (3); Spherocytosis-1 (3); 11 2 0 Anemia, neonatal hemolytic, fatal and near- fatal (3) 602121 Diaphanous, Drosophila, homolog of, 1 Deafness, autosomal dominant 11 2 0 nonsyndromic sensorineural, 1, 124900 (3) 604488 Telethonin Muscular dystrophy, limb-girdle, type 2G, 11 3 0 601954 (3) 123620 Crystallin, beta-B2 Cataract, cerulean, type 2, 601547 (3) 11 3 0 148041 Keratin-6A Pachyonychia congenita, Jadassohn- 11 3 0 Lewandowsky type, 167200 (3) 148042 Keratin-6B Pachyonychia congenita, Jackson-Lawler 11 3 0 type, 167210 (3) 148066 Keratin-14 Epidermolysis bullosa simplex, Koebner, 11 3 0 Dowling-Meara, and Weber-Cockayne types, 131900, 131760, 131800 (3); Epidermolysis bullosa simplex, recessive, 601001 (3) 148067 Keratin-16 Pachyonychia congenita, Jadassohn- 11 3 0 Lewandowsky type, 167200 (3); Nonepidermolytic palmoplantar keratoderma, 600962 (3) 148069 Keratin-17 Pachyonychia congenita, Jackson-Lawler 11 3 0 type, 167210 (3); Steatocystoma multiplex, 184500 (3) 601928 Keratin, hair, basic, 6 Monilethrix, 158000 (3) 11 3 0 602153 Keratin, hair, basic, 1 Monilethrix, 158000 (3) 11 3 0

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 28 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 123690 Crystallin, gamma D Cataracts, punctate, progressive juvenile- 11 3 0 onset (3); Cataract, crystalline aculeiform, 115700 (3) 113811 Collagen XVII, alpha-1 polypeptide Epidermolysis bullosa, generalized atrophic 11 4 0 benign, 226650 (3) 603959 Paracellin 1 Hypomagnesemia, primary, 248250 (3) 11 4 0 276903 Myosin VIIA Usher syndrome, type 1B (3); Deafness, 11 4 0 autosomal recessive 2, neurosensory, 600060 (3); Deafness, autosomal dominant 11, neurosensory, 601317 (3) 603212 Beaded filament structural protein 2 Cataract, juvenile-onset, 604219 (3); 11 4 0 (cytoskeletal protein, 49 kD) Cataract, congenital, 604219 (3) 101000 Neurofibromatosis-2 (bilateral acoustic Neurofibromatosis, type 2 (3); Meningioma, 11 4 0 neuroma); merlin NF2-related, sporadic (3) Schwannoma, sporadic (3); Neurolemmomatosis (3); Malignant mesothelioma, sporadic (3) 123940 Keratin-4 White sponge nevus, 193900 (3) 11 4 0 148043 Keratin-3 Meesmann corneal dystrophy, 122100 (3) 11 4 0 148065 Keratin-13 White sponge nevus, 193900 (3) 11 4 0 157140 Microtubule-associated protein tau Dementia, frontotemporal, with 11 4 0 parkinsonism, 601630 (3) 314850 Kell blood group precursor McLeod phenotype (3) 11 4 0 123680 Crystallin, gamma C Cataract, Coppock-like, 604307 (3) 11 0 148040 Keratin-5 Epidermolysis bullosa simplex, Koebner, 11 2 0 Dowling-Meara, and Weber-Cockayne types, 131900, 131760, 131800 (3) 177070 Erythrocyte surface protein band 4.2 Spherocytosis, hereditary, Japanese type 11 3 0 (3) 191010 Tropomyosin 1, alpha Cardiomyopathy, familial hypertrophic, 3, 11 4 0 115196 (3) 191045 Troponin-T2, cardiac Cardiomyopathy, familial hypertrophic, 2, 11 4 0 115195 (3) 604638 Actinin, alpha-4 Glomerulosclerosis, focal segmental, 1, 11 4 0 603278 (3) 300017 Filamin A, alpha (actin-binding protein-280) Heterotopia, periventricular, 300049 (3) 11 4 0 125660 Desmin Myopathy, desmin-related, cardioskeletal, 11 3 0 601419 (3); Cardiomyopathy, dilated, 1I, 604765 (3) 160760 Myosin, heavy polypeptide-7, cardiac Cardiomyopathy, familial hypertrophic, 1, 11 3 0 muscle, beta 192600 (3); ?Central core disease, one form (3) 150330 Lamin A/C Emery-Dreifuss muscular dystrophy, AD, 11 4 0 181350 (3); Cardiomyopathy, dilated, 1A, 115200 (3); Lipodystrophy, familial partial, 151660 (3); Emery-Dreifuss muscular dystrophy, AR, 604929 (3) 162230 Neurofilament, heavy polypeptide {Amyotrophic lateral sclerosis, susceptibility 11 4 0 to}, 105400 (3) 188840 Titin Cardiomyopathy, familial hypertrophic, 9 (3) 11 5 0

102610 Actin, alpha-1, skeletal muscle Myopathy, nemaline, 161800, 256030 (3); 11 2 0 Myopathy, actin (3) 130500 Erythrocyte surface protein band 4.1 Elliptocytosis-1 (3) 11 2 0 161650 Nebulin Nemaline myopathy 2, autosomal 11 3 0 recessive, 256030 (3) 310300 Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy (3) 11 3 0 Secretory pathway w/TMD 310200 Dystrophin (muscular dystrophy, Duchenne Duchenne muscular dystrophy (3); Becker 11 3 and Becker types) muscular dystrophy (3); Cardiomyopathy, dilated, X-linked (3) 191044 Troponin-I, cardiac Cardiomyopathy, familial hypertrophic (3) 11 4 0 144200 Keratin-9 Epidermolytic palmoplantar keratoderma 11 1 191030 Tropomyosin 3 Nemaline myopathy 1, autosomal 11 1 1 dominant, 161800 (3) 601282 Plectin 1, intermediate filament binding Muscular dystrophy with epidermolysis 11 2 0 protein, 500kD bullosa simplex, 226670 (3)

Copyright  2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle

Page 29 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 139350 Keratin-1 Epidermolytic hyperkeratosis, 113800 (3); 11 2 Keratoderma, palmoplantar, nonepidermolytic (3); Cyclic ichthyosis with epidermolytic hyperkeratosis (3) 148080 Keratin-10 Epidermolytic hyperkeratosis, 113800 (3) 11 2 604366 Dynein, axonemal, intermediate chain 1 Immotile cilia syndrome-1, 242650 (3) 11 3 102540 Actin, alpha, cardiac muscle Cardiomyopathy, dilated, 115200 (3); 11 4 0 Cardiomyopathy, familial hypertrophic, 192600 (3) 147200 Immunoglobulin kappa constant region [Kappa light chain deficiency] (3) 12 2 0 147138 Membrane-spanning 4-domains, subfamily {Asthma, atopic, susceptibility to} (3) 12 3 0 A, member 1 (Fc fragment of IgE, high affinity I, receptor for, beta polypeptide) 147110 Constant region of heavy chain of IgG2 IgG2 deficiency, selective (3) 12 3 0 147020 Constant region of heavy chain of IgM Agammaglobulinemia, 601495 (3) 12 2 0 191190 Tumor necrosis factor receptor superfamily, Periodic fever, familial, 142680 (3) 13 0 0 member 1A 601877 Transforming growth factor, beta-4 Left-right axis malformation (3) 13 1 1 (endometrial bleeding-associated factor; LEFTY A) 602991 Noggin, mouse, homolog of Symphalangism, proximal, 185800 (3); 13 1 1 Synostoses syndrome, multiple, 1, 186500 (3) 601265 Nodal, mouse, homolog of Situs ambiguus (3) 13 1 1 310600 Norrin Norrie disease (3); Exudative 13 1 vitreoretinopathy, X-linked, 305390 (3); Coats disease, 300216 (3) 603400 Wnt-1 inducible signaling pathway protein 3 Arthropathy, progressive 13 3 0 pseudorheumatoid, of childhood, 208230 (3) 154545 Mannose-binding lectin 2, soluble (opsonic {Chronic infections, due to opsonin defect} 13 3 0 defect) (3) 154870 Matrix Gla protein Keutel syndrome, 245150 (3) 13 4 1 142858 Major histocompatibility complex, class II, {Beryllium disease, chronic, susceptibility 13 4 0 DP beta-1 to} (3) 191160 Tumor necrosis factor (cachectin) {Malaria, cerebral, susceptibility to} (3) 13 0 0 600837 Glial cell line derived neurotrophic factor Hirschsprung disease, 142623 (3) 13 1 0 ret ligand 600725 Sonic hedgehog, Drosophila, homolog of Holoprosencephaly-3, 142945 (3) 13 1 1 601920 Jagged 1 Alagille syndrome, 118450 (3) 13 1 1 602018 Neurturin Hirschsprung disease, 142623 (3) 13 1 0 131242 Endothelin-3 Shah-Waardenburg syndrome, 277580 (3) 13 2 0 604283 Megakaryocyte stimulating factor Camptodactyly-arthropathy-coxa vara- 13 3 0 pericarditis syndrome, 208250 (3) 300127 Oligophrenin-1 Mental retardation, X-linked, 60 (3) 13 0 0 601146 Growth/differentiation factor-5 (cartilage- Acromesomelic dysplasia, Hunter- 13 1 1 derived morphogenetic protein-1) Thompson type, 201250 (3); Brachydactyly, type C, 113100 (3); Chondrodysplasia, Grebe type, 200700 (3) 600993 Mothers against decapentaplegic, Pancreatic cancer (3); Polyposis, juvenile 13 3 0 Drosophila, homolog of, 4 intestinal, 174900 (3) 600835 Stromal cell-derived factor 1 {AIDS, resistance to} (3) 13 4 0

Copyright  2001 Johns Hopkins University. All rights reserved