Symbol Official Full Name ABHD12 abhydrolase domain containing 12 ADCK3 aarF domain containing kinase 3 AFG3L2 AFG3 ATPase family member 3-like 2 (S. cerevisiae) AHI1 Abelson helper integration site 1 ALG1 asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) ALG11 asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) ALG12 asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) ALG2 asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) ALG3 asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) ALG8 asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) ALG9 asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) ANO10 anoctamin 10 APOB apolipoprotein B (including Ag(x) antigen) APTX aprataxin ARL13B ADP-ribosylation factor-like 13B ATCAY ataxia, cerebellar, Cayman type ATM ataxia telangiectasia mutated ATN1 atrophin 1 ATP7A ATPase, Cu++ transporting, alpha polypeptide ATXN1 ataxin 1 ATXN10 ataxin 10 ATXN2 ataxin 2 ATXN3 ataxin 3 ATXN7 ataxin 7 ATXN8 ataxin 8 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 BEAN1 brain expressed, associated with NEDD4, 1 BTD biotinidase C10orf2 chromosome 10 open reading frame 2 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNB4 calcium channel, voltage-dependent, beta 4 subunit CC2D2A coiled-coil and C2 domain containing 2A CEP290 centrosomal protein 290kDa CEP41 centrosomal protein 41kDa COG1 component of oligomeric golgi complex 1 COG4 component of oligomeric golgi complex 4 COG5 component of oligomeric golgi complex 5 COG6 component of oligomeric golgi complex 6 COG7 component of oligomeric golgi complex 7 COG8 component of oligomeric golgi complex 8 COQ2 coenzyme Q2 homolog, prenyltransferase (yeast) COQ6 coenzyme Q6 homolog, monooxygenase (S. cerevisiae) COQ9 coenzyme Q9 homolog (S. cerevisiae) CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 DOLK dolichol kinase DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 EEF2 eukaryotic translation elongation factor 2 ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ETHE1 ethylmalonic encephalopathy 1 FGF14 fibroblast growth factor 14 FLVCR1 feline leukemia virus subgroup C cellular receptor 1 FXN frataxin GBA2 glucosidase, beta (bile acid) 2 GJB1 gap junction protein, beta 1, 32kDa GM2A GM2 ganglioside activator GRM1 glutamate receptor, metabotropic 1 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 KCNA1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) KCNC3 potassium voltage-gated channel, Shaw-related subfamily, member 3 KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3 KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10 KCTD7 potassium channel tetramerisation domain containing 7 KIF7 kinesin family member 7 MAGT1 magnesium transporter 1 MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase MOGS mannosyl-oligosaccharide glucosidase MPDU1 mannose-P-dolichol utilization defect 1 MPI mannose phosphate isomerase MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) MTTP microsomal triglyceride transfer protein NOP56 NOP56 ribonucleoprotein NPC1 Niemann-Pick disease, type C1 NPC2 Niemann-Pick disease, type C2 NPHP1 nephronophthisis 1 (juvenile) OFD1 oral-facial-digital syndrome 1 OTUD4 OTU domain containing 4 PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 PDYN prodynorphin PEX10 peroxisomal biogenesis factor 10 PEX2 peroxisomal biogenesis factor 2 PEX7 peroxisomal biogenesis factor 7 PGM1 phosphoglucomutase 1 PHYH phytanoyl-CoA 2-hydroxylase PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 PMM2 phosphomannomutase 2 POLG polymerase (DNA directed), gamma POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa POLR3B polymerase (RNA) III (DNA directed) polypeptide B PPP2R2B protein phosphatase 2, regulatory subunit B, beta PRICKLE1 prickle homolog 1 (Drosophila) PRKCG protein kinase C, gamma PRNP prion protein RARS2 arginyl-tRNA synthetase 2, mitochondrial RFT1 RFT1 homolog (S. cerevisiae) RNF216 ring finger protein 216 RPGRIP1L RPGRIP1-like SACS spastic ataxia of Charlevoix-Saguenay (sacsin) SETX senataxin SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 SLC35C1 solute carrier family 35, member C1 SPTBN2 spectrin, beta, non-erythrocytic 2 SRD5A3 steroid 5 alpha-reductase 3 SYNE1 spectrin repeat containing, nuclear envelope 1 SYT14 synaptotagmin XIV TBP TATA box binding protein TCTN1 tectonic family member 1 TCTN2 tectonic family member 2 TCTN3 tectonic family member 3 TDP1 tyrosyl-DNA phosphodiesterase 1 TGM6 transglutaminase 6 TMEM138 transmembrane protein 138 TMEM165 transmembrane protein 165 TMEM216 transmembrane protein 216 TMEM231 transmembrane protein 231 TMEM237 transmembrane protein 237 TMEM67 transmembrane protein 67 TPP1 tripeptidyl peptidase I TSEN54 tRNA splicing endonuclease 54 homolog (S. cerevisiae) TTBK2 tau tubulin kinase 2 TTC21B tetratricopeptide repeat domain 21B TTPA tocopherol (alpha) transfer protein TUSC3 tumor suppressor candidate 3 VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1) VRK1 vaccinia related kinase 1 ZNF423 zinc finger protein 423