upper motor neuron dysfunction Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002493
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Genes

706 genes associated with the upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AASS aminoadipate-semialdehyde synthase
ABAT 4-aminobutyrate aminotransferase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABHD12 abhydrolase domain containing 12
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP2 acid phosphatase 2, lysosomal
ACTA1 actin, alpha 1, skeletal muscle
ADAR adenosine deaminase, RNA-specific
ADCK3 aarF domain containing kinase 3
ADCY5 adenylate cyclase 5
ADGRG1 adhesion G protein-coupled receptor G1
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMACR alpha-methylacyl-CoA racemase
AMPD2 adenosine monophosphate deaminase 2
AMT aminomethyltransferase
ANG angiogenin, ribonuclease, RNase A family, 5
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANO10 anoctamin 10
ANOS1 anosmin 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
APOA1 apolipoprotein A-I
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARG1 arginase 1
ARHGAP31 Rho GTPase activating protein 31
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSA arylsulfatase A
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP10A ATPase, class V, type 10A
ATP13A2 ATPase type 13A2
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8 ataxin 8
ATXN8OS ATXN8 opposite strand (non-protein coding)
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCAP31 B-cell receptor-associated protein 31
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BICD2 bicaudal D homolog 2 (Drosophila)
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C8ORF37 chromosome 8 open reading frame 37
C9ORF72 chromosome 9 open reading frame 72
CA4 carbonic anhydrase IV
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CECR1 cat eye syndrome chromosome region, candidate 1
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHMP1A charged multivesicular body protein 1A
CHMP2B charged multivesicular body protein 2B
CLCF1 cardiotrophin-like cytokine factor 1
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNTN4 contactin 4
COASY CoA synthase
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COQ9 coenzyme Q9
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX3
CP ceruloplasmin (ferroxidase)
CPT1A carnitine palmitoyltransferase 1A (liver)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CRX cone-rod homeobox
CSF1R colony stimulating factor 1 receptor
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CYB5R3 cytochrome b5 reductase 3
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DARS aspartyl-tRNA synthetase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBT dihydrolipoamide branched chain transacylase E2
DCX doublecortin
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DMPK dystrophia myotonica-protein kinase
DNASE1L3 deoxyribonuclease I-like 3
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPYD dihydropyrimidine dehydrogenase
DUSP6 dual specificity phosphatase 6
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EDNRB endothelin receptor type B
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
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
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMX2 empty spiracles homeobox 2
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
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
ERF Ets2 repressor factor
ERLIN2 ER lipid raft associated 2
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FAM134B family with sequence similarity 134, member B
FAM161A family with sequence similarity 161, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBXO7 F-box protein 7
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FSCN2 fascin actin-bundling protein 2, retinal
FTL ferritin, light polypeptide
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FUS FUS RNA binding protein
FXN frataxin
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALC galactosylceramidase
GAMT guanidinoacetate N-methyltransferase
GAN gigaxonin
GARS glycyl-tRNA synthetase
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFAP glial fibrillary acidic protein
GFM1 G elongation factor, mitochondrial 1
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GLUL glutamate-ammonia ligase
GLYCTK glycerate kinase
GM2A GM2 ganglioside activator
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPHN gephyrin
GRM1 glutamate receptor, metabotropic 1
GSS glutathione synthetase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
HTT huntingtin
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IQCB1 IQ motif containing B1
ITM2B integral membrane protein 2B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JAM3 junctional adhesion molecule 3
JPH3 junctophilin 3
KANK1 KN motif and ankyrin repeat domains 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNT1 potassium channel, sodium activated subfamily T, member 1
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
KIAA0226 KIAA0226
KIAA1033 KIAA1033
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF1C kinesin family member 1C
KIF2A kinesin heavy chain member 2A
KIF5A kinesin family member 5A
KIF5C kinesin family member 5C
KISS1R KISS1 receptor
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LIAS lipoic acid synthetase
LIMK1 LIM domain kinase 1
LINS lines homolog (Drosophila)
LMNB1 lamin B1
LOR loricrin
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
MAK male germ cell-associated kinase
MAN2B1 mannosidase, alpha, class 2B, member 1
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MAT1A methionine adenosyltransferase I, alpha
MATR3 matrin 3
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED17 mediator complex subunit 17
MEFV Mediterranean fever
MEOX1 mesenchyme homeobox 1
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MRPS22 mitochondrial ribosomal protein S22
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ATP8 ATP synthase F0 subunit 8
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTO1 mitochondrial tRNA translation optimization 1
MTPAP mitochondrial poly(A) polymerase
MUT methylmalonyl CoA mutase
MYO5A myosin VA (heavy chain 12, myoxin)
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
ND1
NDE1 nudE neurodevelopment protein 1
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
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
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
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
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)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (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
NEK2 NIMA-related kinase 2
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPBL Nipped-B homolog (Drosophila)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP56 NOP56 ribonucleoprotein
NOTCH1 notch 1
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NSD1 nuclear receptor binding SET domain protein 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
NTNG1 netrin G1
NUBPL nucleotide binding protein-like
NUP62 nucleoporin 62kDa
OCA2 oculocutaneous albinism II
OCLN occludin
OFD1 oral-facial-digital syndrome 1
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPHN1 oligophrenin 1
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX1 paired box 1
PAX3 paired box 3
PC pyruvate carboxylase
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE8B phosphodiesterase 8B
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDYN prodynorphin
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
PEX7 peroxisomal biogenesis factor 7
PFN1 profilin 1
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLP1 proteolipid protein 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
PNPLA6 patatin-like phospholipase domain containing 6
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRICKLE1 prickle homolog 1 (Drosophila)
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
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
PRRT2 proline-rich transmembrane protein 2
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PRTN3 proteinase 3
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTS 6-pyruvoyltetrahydropterin synthase
QARS glutaminyl-tRNA synthetase
QDPR quinoid dihydropteridine reductase
RAB18 RAB18, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
RANBP2 RAN binding protein 2
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBP3 retinol binding protein 3, interstitial
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
REEP1 receptor accessory protein 1
REEP2 receptor accessory protein 2
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
RNF170 ring finger protein 170
RNF216 ring finger protein 216
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROGDI rogdi homolog (Drosophila)
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
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTEL1 regulator of telomere elongation helicase 1
RTN2 reticulon 2
RTTN rotatin
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SAMHD1 SAM domain and HD domain 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERAC1 serine active site containing 1
SETBP1 SET binding protein 1
SETX senataxin
SHH sonic hedgehog
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC30A10 solute carrier family 30, member 10
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A14 solute carrier family 7, member 14
SLX4 SLX4 structure-specific endonuclease subunit
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SOD1 superoxide dismutase 1, soluble
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPAST spastin
SPATA7 spermatogenesis associated 7
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPRY4 sprouty homolog 4 (Drosophila)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SQSTM1 sequestosome 1
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STAT4 signal transducer and activator of transcription 4
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 surfeit 1
TACR3 tachykinin receptor 3
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TARDBP TAR DNA binding protein
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TBX4 T-box 4
TECPR2 tectonin beta-propeller repeat containing 2
TERT telomerase reverse transcriptase
TFG TRK-fused gene
TGM6 transglutaminase 6
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TMEM67 transmembrane protein 67
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TPK1 thiamin pyrophosphokinase 1
TPP1 tripeptidyl peptidase I
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TSC1 tuberous sclerosis 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTBK2 tau tubulin kinase 2
TTC19 tetratricopeptide repeat domain 19
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUB tubby bipartite transcription factor
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
TUBG1 tubulin, gamma 1
TUBGCP6 tubulin, gamma complex associated protein 6
TUFM Tu translation elongation factor, mitochondrial
TULP1 tubby like protein 1
TYROBP TYRO protein tyrosine kinase binding protein
UBE3A ubiquitin protein ligase E3A
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VLDLR very low density lipoprotein receptor
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
WDR11 WD repeat domain 11
WDR45 WD repeat domain 45
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
ZC4H2 zinc finger, C4H2 domain containing
ZFP90 ZFP90 zinc finger protein
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27
ZNF335 zinc finger protein 335
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592