Optic Atrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Xref MGI. (Human Disease Ontology, DOID_5723)
External Link https://www.disgenet.org/browser/0/1/0/C0917796
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Genes

692 genes associated with the disease Optic Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AARS1 alanyl-tRNA synthetase 1
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABHD12 abhydrolase domain containing 12
ACE angiotensin I converting enzyme
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP3 acid phosphatase 3
ACTB actin, beta
ACTL6B actin-like 6B
ADAM22 ADAM metallopeptidase domain 22
ADAR adenosine deaminase, RNA-specific
ADCK1 aarF domain containing kinase 1
ADI1 acireductone dioxygenase 1
AFG3L2 AFG3-like AAA ATPase 2
AFM afamin
AGBL5 ATP/GTP binding protein-like 5
AGXT alanine-glyoxylate aminotransferase
AHI1 Abelson helper integration site 1
AHR aryl hydrocarbon receptor
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKAP1 A kinase (PRKA) anchor protein 1
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMD1 adenosylmethionine decarboxylase 1
AMPD2 adenosine monophosphate deaminase 2
ANTXR1 anthrax toxin receptor 1
AP3B2 adaptor-related protein complex 3, beta 2 subunit
APOPT1 apoptogenic 1, mitochondrial
APP amyloid beta (A4) precursor protein
APTX aprataxin
AQP4 aquaporin 4
AR androgen receptor
ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL3 ADP-ribosylation factor-like 3
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
ARV1 ARV1 homolog (S. cerevisiae)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
ASCC2 activating signal cointegrator 1 complex subunit 2
ASIC1 acid sensing (proton gated) ion channel 1
ASPA aspartoacylase
ATAD3A ATPase family, AAA domain containing 3A
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GLCT beta 3-glucosyltransferase
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BBS2 Bardet-Biedl syndrome 2
BCAP31 B-cell receptor-associated protein 31
BCL2 B-cell CLL/lymphoma 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BECN1 beclin 1, autophagy related
BEST1 bestrophin 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
BTD biotinidase
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C19ORF70 chromosome 19 open reading frame 70
C21ORF2 chromosome 21 open reading frame 2
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA2 carbonic anhydrase II
CA4 carbonic anhydrase IV
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CAPN1 calpain 1, (mu/I) large subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAST calpastatin
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CCDC50 coiled-coil domain containing 50
CCDC88A coiled-coil domain containing 88A
CD274 CD274 molecule
CDC42 cell division cycle 42
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDHR1 cadherin-related family member 1
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CEP290 centrosomal protein 290kDa
CEP55 centrosomal protein 55kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHSY1 chondroitin sulfate synthase 1
CISD2 CDGSH iron sulfur domain 2
CKAP2L cytoskeleton associated protein 2-like
CLCN7 chloride channel, voltage-sensitive 7
CLDN5 claudin 5
CLN3 ceroid-lipofuscinosis, neuronal 3
CLP1 cleavage and polyadenylation factor I subunit 1
CLRN1 clarin 1
CLTC clathrin, heavy chain (Hc)
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNKSR2 connector enhancer of kinase suppressor of Ras 2
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNR2 cannabinoid receptor 2 (macrophage)
CNTNAP1 contactin associated protein 1
COL4A1 collagen, type IV, alpha 1
COMT catechol-O-methyltransferase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX5A cytochrome c oxidase subunit Va
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPLX1 complexin 1
CPOX coproporphyrinogen oxidase
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRMP1 collapsin response mediator protein 1
CRX cone-rod homeobox
CRYZ crystallin, zeta (quinone reductase)
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTRL chymotrypsin-like
CUX1 cut-like homeobox 1
CYC1 cytochrome c-1
CYFIP2 cytoplasmic FMR1 interacting protein 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAPK2 death-associated protein kinase 2
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DDB2 damage-specific DNA binding protein 2, 48kDa
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DENR density-regulated protein
DGKG diacylglycerol kinase, gamma 90kDa
DGUOK deoxyguanosine kinase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38
DIAPH1 diaphanous-related formin 1
DKC1 dyskeratosis congenita 1, dyskerin
DMPK dystrophia myotonica-protein kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNM1 dynamin 1
DNM1L dynamin 1-like
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPYD dihydropyrimidine dehydrogenase
EBP emopamil binding protein (sterol isomerase)
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELAVL1 ELAV like RNA binding protein 1
ELP1 elongator acetyltransferase complex subunit 1
EMC1 ER membrane protein complex subunit 1
ENDOG endonuclease G
ENO2 enolase 2 (gamma, neuronal)
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHB2 EPH receptor B2
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPRS1 glutamyl-prolyl-tRNA synthetase 1
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ESR2 estrogen receptor 2 (ER beta)
EYS eyes shut homolog (Drosophila)
FA2H fatty acid 2-hydroxylase
FAM161A family with sequence similarity 161, member A
FASTKD2 FAST kinase domains 2
FDXR ferredoxin reductase
FGF12 fibroblast growth factor 12
FGF21 fibroblast growth factor 21
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)
FKRP fukutin related protein
FKTN fukutin
FLRT1 fibronectin leucine rich transmembrane protein 1
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMO3 flavin containing monooxygenase 3
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRMPD4 FERM and PDZ domain containing 4
FSCN2 fascin actin-bundling protein 2, retinal
FTL ferritin, light polypeptide
FUK fucokinase
FXN frataxin
GABARAPL1 GABA(A) receptor-associated protein like 1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GALC galactosylceramidase
GCA grancalcin, EF-hand calcium binding protein
GCLC glutamate-cysteine ligase, catalytic subunit
GGT1 gamma-glutamyltransferase 1
GGTLC3 gamma-glutamyltransferase light chain 3
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLIS3 GLIS family zinc finger 3
GLRX5 glutaredoxin 5
GMCL1 germ cell-less, spermatogenesis associated 1
GMCL1P1 germ cell-less, spermatogenesis associated 1 pseudogene 1
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPAA1 glycosylphosphatidylinositol anchor attachment 1
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GRM2 glutamate receptor, metabotropic 2
GRN granulin
GSR glutathione reductase
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GTPBP2 GTP binding protein 2
GUCA1B guanylate cyclase activator 1B (retina)
H2AX H2A.X variant histone
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HES1 hes family bHLH transcription factor 1
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIRA histone cell cycle regulator
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDH3A isocitrate dehydrogenase 3 (NAD+) alpha
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IFNB1 interferon, beta 1, fibroblast
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT88 intraflagellar transport 88
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IMMT inner membrane protein, mitochondrial
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5K inositol polyphosphate-5-phosphatase K
ISCA2 iron-sulfur cluster assembly 2
ISPD isoprenoid synthase domain containing
ITM2B integral membrane protein 2B
JMJD1C jumonji domain containing 1C
KAT6A K(lysine) acetyltransferase 6A
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCTD7 potassium channel tetramerization domain containing 7
KEAP1 kelch-like ECH-associated protein 1
KIAA1549 KIAA1549
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIZ kizuna centrosomal protein
KLC2 kinesin light chain 2
KLHL7 kelch-like family member 7
KNSTRN kinetochore-localized astrin/SPAG5 binding protein
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT10 keratin 10, type I
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMP1 lysosomal-associated membrane protein 1
LARGE like-glycosyltransferase
LCN2 lipocalin 2
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIPT1 lipoyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LY6E lymphocyte antigen 6 complex, locus E
MAD2L1BP MAD2L1 binding protein
MAG myelin associated glycoprotein
MAK male germ cell-associated kinase
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MCOLN1 mucolipin 1
MCU mitochondrial calcium uniporter
MECR mitochondrial trans-2-enoyl-CoA reductase
MED12 mediator complex subunit 12
MERTK MER proto-oncogene, tyrosine kinase
MFF mitochondrial fission factor
MFN1 mitofusin 1
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MGP matrix Gla protein
MICU1 mitochondrial calcium uptake 1
MIPEP mitochondrial intermediate peptidase
MKS1 Meckel syndrome, type 1
MMUT methylmalonyl-CoA mutase
MOG myelin oligodendrocyte glycoprotein
MOGS mannosyl-oligosaccharide glucosidase
MPDU1 mannose-P-dolichol utilization defect 1
MRPS30 mitochondrial ribosomal protein S30
MRPS34 mitochondrial ribosomal protein S34
MT-ATP6 ATP synthase F0 subunit 6
MT-CYB cytochrome b
MT-ND2 MTND2
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND4L NADH dehydrogenase, subunit 4L (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTO1 mitochondrial tRNA translation optimization 1
MTPAP mitochondrial poly(A) polymerase
MUL1 mitochondrial E3 ubiquitin protein ligase 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYO5A myosin VA (heavy chain 12, myoxin)
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative)
NBAS neuroblastoma amplified sequence
ND1
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA4 NDUFA4, mitochondrial complex associated
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NECAP1 NECAP endocytosis associated 1
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFE2L1 nuclear factor, erythroid 2-like 1
NFE2L2 nuclear factor, erythroid 2-like 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NGLY1 N-glycanase 1
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOG noggin
NOS3 nitric oxide synthase 3 (endothelial cell)
NPTX2 neuronal pentraxin II
NR1H2 nuclear receptor subfamily 1, group H, member 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRF1 nuclear respiratory factor 1
NRL neural retina leucine zipper
NSD2 nuclear receptor binding SET domain protein 2
NT5C2 5'-nucleotidase, cytosolic II
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUP62 nucleoporin 62kDa
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa
OAT ornithine aminotransferase
OFD1 oral-facial-digital syndrome 1
OMA1 OMA1 zinc metallopeptidase
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPTN optineurin
OSTM1 osteopetrosis associated transmembrane protein 1
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
PANK2 pantothenate kinase 2
PAPOLA poly(A) polymerase alpha
PARL presenilin associated, rhomboid-like
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PAX6 paired box 6
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCLO piccolo presynaptic cytomatrix protein
PDAP1 PDGFA associated protein 1
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PDXK pyridoxal (pyridoxine, vitamin B6) kinase
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PGAM5 phosphoglycerate mutase family member 5
PGD phosphogluconate dehydrogenase
PHB2 prohibitin 2
PHLDA2 pleckstrin homology-like domain, family A, member 2
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PINK1 PTEN induced putative kinase 1
PKLR pyruvate kinase, liver and RBC
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAA phospholipase A2-activating protein
PLIN1 perilipin 1
PLK4 polo-like kinase 4
PLP1 proteolipid protein 1
PLXNA2 plexin A2
PMEL premelanosome protein
PMPCA peptidase (mitochondrial processing) alpha
PNPLA6 patatin-like phospholipase domain containing 6
POGZ pogo transposable element with ZNF domain
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
POTEF POTE ankyrin domain family, member F
POU3F4 POU class 3 homeobox 4
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPT1 palmitoyl-protein thioesterase 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCA protein kinase C, alpha
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PSAP prosaposin
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB11B RAB11B, member RAS oncogene family
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RBM10 RNA binding motif protein 10
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
REEP6 receptor accessory protein 6
REG3A regenerating islet-derived 3 alpha
RERE arginine-glutamic acid dipeptide (RE) repeats
RFC1 replication factor C (activator 1) 1, 145kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RNF216 ring finger protein 216
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPIA ribose 5-phosphate isomerase A
RPL24 ribosomal protein L24
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RREB1 ras responsive element binding protein 1
RSPO2 R-spondin 2
RTN4IP1 reticulon 4 interacting protein 1
S100B S100 calcium binding protein B
SAG S-antigen; retina and pineal gland (arrestin)
SARDH sarcosine dehydrogenase
SART3 squamous cell carcinoma antigen recognized by T cells 3
SCAPER S-phase cyclin A-associated protein in the ER
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCO1 SCO1 cytochrome c oxidase assembly protein
SCO2 SCO2 cytochrome c oxidase assembly protein
SCYL1 SCY1-like 1 (S. cerevisiae)
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERAC1 serine active site containing 1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SH3BP2 SH3-domain binding protein 2
SIL1 SIL1 nucleotide exchange factor
SIRT1 sirtuin 1
SIRT3 sirtuin 3
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLBP stem-loop binding protein
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A46 solute carrier family 25, member 46
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SLC7A14 solute carrier family 7, member 14
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMOC1 SPARC related modular calcium binding 1
SNAP29 synaptosomal-associated protein, 29kDa
SND1 staphylococcal nuclease and tudor domain containing 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
SNX10 sorting nexin 10
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SON SON DNA binding protein
SOST sclerostin
SOX5 SRY (sex determining region Y)-box 5
SPATA7 spermatogenesis associated 7
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SQSTM1 sequestosome 1
SRD5A3 steroid 5 alpha-reductase 3
SSBP1 single-stranded DNA binding protein 1, mitochondrial
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STMN1 stathmin 1
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STXBP1 syntaxin binding protein 1
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SZT2 seizure threshold 2 homolog (mouse)
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACSTD2 tumor-associated calcium signal transducer 2
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
TBCD tubulin folding cofactor D
TBCE tubulin folding cofactor E
TBX1 T-box 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN2 tectonic family member 2
TFAM transcription factor A, mitochondrial
TFB2M transcription factor B2, mitochondrial
TFG TRK-fused gene
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB1 transforming growth factor, beta 1
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TK2 thymidine kinase 2, mitochondrial
TMED9 transmembrane emp24 protein transport domain containing 9
TMEM107 transmembrane protein 107
TMEM126A transmembrane protein 126A
TMEM206 transmembrane protein 206
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOE1 target of EGR1, member 1 (nuclear)
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TOMM70 translocase of outer mitochondrial membrane 70
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TPPP tubulin polymerization promoting protein
TPX2 TPX2, microtubule-associated
TRAK1 trafficking protein, kinesin binding 1
TRAPPC11 trafficking protein particle complex 11
TRAPPC12 trafficking protein particle complex 12
TREH trehalase (brush-border membrane glycoprotein)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSFM Ts translation elongation factor, mitochondrial
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TUBB4A tubulin, beta 4A class IVa
TUBGCP4 tubulin, gamma complex associated protein 4
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
TUSC2 tumor suppressor candidate 2
TWIST1 twist family bHLH transcription factor 1
TWNK twinkle mtDNA helicase
TXN2 thioredoxin 2
TXNRD1 thioredoxin reductase 1
UBA5 ubiquitin-like modifier activating enzyme 5
UBE3B ubiquitin protein ligase E3B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UFD1 ubiquitin recognition factor in ER associated degradation 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
UTRN utrophin
VCAN versican
VEGFA vascular endothelial growth factor A
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC5 WASH complex subunit 5
WDPCP WD repeat containing planar cell polarity effector
WDR4 WD repeat domain 4
WDR45 WD repeat domain 45
WDR73 WD repeat domain 73
WFS1 Wolfram syndrome 1 (wolframin)
WNT3 wingless-type MMTV integration site family, member 3
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YME1L1 YME1-like 1 ATPase
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ZNF408 zinc finger protein 408
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592
ZNHIT3 zinc finger, HIT-type containing 3