abnormality of movement Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. (Human Phenotype Ontology, HP_0100022)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100022
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Genes

788 genes associated with the abnormality of movement phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AASS aminoadipate-semialdehyde synthase
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABHD12 abhydrolase domain containing 12
ACAN aggrecan
ACAT2 acetyl-CoA acetyltransferase 2
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACY1 aminoacylase 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAR adenosine deaminase, RNA-specific
ADCK3 aarF domain containing kinase 3
ADCY5 adenylate cyclase 5
ADGRG1 adhesion G protein-coupled receptor G1
ADNP activity-dependent neuroprotector homeobox
ADRA2B adrenoceptor alpha 2B
ADSL adenylosuccinate lyase
AFF2 AF4/FMR2 family, member 2
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMACR alpha-methylacyl-CoA racemase
AMPD2 adenosine monophosphate deaminase 2
AMT aminomethyltransferase
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANO10 anoctamin 10
ANO3 anoctamin 3
ANOS1 anosmin 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APP amyloid beta (A4) precursor protein
APTX aprataxin
AR androgen receptor
ARG1 arginase 1
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATCAY ataxia, cerebellar, Cayman type
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP13A2 ATPase type 13A2
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
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
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCAP31 B-cell receptor-associated protein 31
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEAN1 brain expressed, associated with NEDD4, 1
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BRAT1 BRCA1-associated ATM activator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C4A complement component 4A (Rodgers blood group)
C5ORF42 chromosome 5 open reading frame 42
C9ORF72 chromosome 9 open reading frame 72
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
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CASC5 cancer susceptibility candidate 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D1A coiled-coil and C2 domain containing 1A
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CDKL5 cyclin-dependent kinase-like 5
CECR1 cat eye syndrome chromosome region, candidate 1
CEP126 centrosomal protein 126kDa
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CFL2 cofilin 2 (muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHMP1A charged multivesicular body protein 1A
CHMP2B charged multivesicular body protein 2B
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN2 chloride channel, voltage-sensitive 2
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNTN1 contactin 1
CNTN2 contactin 2 (axonal)
CNTNAP2 contactin associated protein-like 2
COASY CoA synthase
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COLEC11 collectin sub-family member 11
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CORO1A coronin, actin binding protein, 1A
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX3
CP ceruloplasmin (ferroxidase)
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSF1R colony stimulating factor 1 receptor
CSPP1 centrosome and spindle pole associated protein 1
CSTB cystatin B (stefin B)
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CTSF cathepsin F
CUL4B cullin 4B
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCAF17 DDB1 and CUL4 associated factor 17
DCAF8 DDB1 and CUL4 associated factor 8
DCC DCC netrin 1 receptor
DCTN1 dynactin 1
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD1 DDHD domain containing 1
DEAF1 DEAF1 transcription factor
DHCR7 7-dehydrocholesterol reductase
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DMD dystrophin
DNA2 DNA replication helicase/nuclease 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNASE1L3 deoxyribonuclease I-like 3
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DRD2 dopamine receptor D2
DRD5 dopamine receptor D5
DUSP6 dual specificity phosphatase 6
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EEF2 eukaryotic translation elongation factor 2
EGR2 early growth response 2
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
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ELOVL5 ELOVL fatty acid elongase 5
EMD emerin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERLIN2 ER lipid raft associated 2
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBXL4 F-box and leucine-rich repeat protein 4
FBXO38 F-box protein 38
FBXO7 F-box protein 7
FEZF1 FEZ family zinc finger 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF14 fibroblast growth factor 14
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNC filamin C, gamma
FLRT3 fibronectin leucine rich transmembrane protein 3
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FOXP1 forkhead box P1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FTL ferritin, light polypeptide
FUS FUS RNA binding protein
FXN frataxin
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALT galactose-1-phosphate uridylyltransferase
GAMT guanidinoacetate N-methyltransferase
GAN gigaxonin
GATA4 GATA binding protein 4
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)
GDAP1 ganglioside induced differentiation associated protein 1
GDF6 growth differentiation factor 6
GFM1 G elongation factor, mitochondrial 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GIGYF2 GRB10 interacting GYF protein 2
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GLYCTK glycerate kinase
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNS glucosamine (N-acetyl)-6-sulfatase
GOSR2 golgi SNAP receptor complex member 2
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPHN gephyrin
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRM1 glutamate receptor, metabotropic 1
GSS glutathione synthetase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCFC1 host cell factor C1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HINT1 histidine triad nucleotide binding protein 1
HIRA histone cell cycle regulator
HK1 hexokinase 1
HLA-B major histocompatibility complex, class I, B
HMGA2 high mobility group AT-hook 2
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT27 intraflagellar transport 27
IGF1 insulin-like growth factor 1 (somatomedin C)
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
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
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL23R interleukin 23 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ITM2B integral membrane protein 2B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JPH3 junctophilin 3
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
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
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
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
KIAA0226 KIAA0226
KIAA2022 KIAA2022
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF1C kinesin family member 1C
KIF5A kinesin family member 5A
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KMT2A lysine (K)-specific methyltransferase 2A
L1CAM L1 cell adhesion molecule
LAMB2 laminin, beta 2 (laminin S)
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHCGR luteinizing hormone/choriogonadotropin receptor
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMNB1 lamin B1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRK2 leucine-rich repeat kinase 2
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAMLD1 mastermind-like domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MAT1A methionine adenosyltransferase I, alpha
MATN3 matrilin 3
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED17 mediator complex subunit 17
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MFN2 mitofusin 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MID2 midline 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MRPS16 mitochondrial ribosomal protein S16
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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-TK tRNA
MT-TL1 tRNA
MT-TP tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTO1 mitochondrial tRNA translation optimization 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl CoA mutase
MYH14 myosin, heavy chain 14, non-muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYO5A myosin VA (heavy chain 12, myoxin)
MYOT myotilin
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NDRG1 N-myc downstream regulated 1
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
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
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
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)
NEB nebulin
NEFL neurofilament, light polypeptide
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NGLY1 N-glycanase 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOP56 NOP56 ribonucleoprotein
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NRXN1 neurexin 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTNG1 netrin G1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUP62 nucleoporin 62kDa
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
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
OPTN optineurin
PABPN1 poly(A) binding protein, nuclear 1
PAH phenylalanine hydroxylase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PAX6 paired box 6
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
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
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
PFN1 profilin 1
PGAP3 post-GPI attachment to proteins 3
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNKD paroxysmal nonkinesigenic dyskinesia
PNKP polynucleotide kinase 3'-phosphatase
PNP purine nucleoside phosphorylase
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
PNPO pyridoxamine 5'-phosphate oxidase
PNPT1 polyribonucleotide nucleotidyltransferase 1
POC1A POC1 centriolar protein A
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
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRNP prion protein
PRODH proline dehydrogenase (oxidase) 1
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRX periaxin
PSAP prosaposin
PSEN1 presenilin 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
RAB18 RAB18, member RAS oncogene family
RAB39B RAB39B, member RAS oncogene family
RAB7A RAB7A, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
REEP1 receptor accessory protein 1
RFC2 replication factor C (activator 1) 2, 40kDa
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
RNF170 ring finger protein 170
RNR1 RNA, ribosomal cluster 1
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTN2 reticulon 2
SACS sacsin molecular chaperone
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
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
SCP2 sterol carrier protein 2
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
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERAC1 serine active site containing 1
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETX senataxin
SFXN4 sideroflexin 4
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCE sarcoglycan, epsilon
SGSH N-sulfoglucosamine sulfohydrolase
SH2B1 SH2B adaptor protein 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
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
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
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
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
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
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLITRK1 SLIT and NTRK-like family, member 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
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
SMN1 survival of motor neuron 1, telomeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOD1 superoxide dismutase 1, soluble
SOX10 SRY (sex determining region Y)-box 10
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)
SPRED1 sprouty-related, EVH1 domain containing 1
SPRY4 sprouty homolog 4 (Drosophila)
SPTBN2 spectrin, beta, non-erythrocytic 2
SRCAP Snf2-related CREBBP activator protein
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STAT4 signal transducer and activator of transcription 4
STS steroid sulfatase (microsomal), isozyme S
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
SUCLG1 succinate-CoA ligase, alpha subunit
SUOX sulfite oxidase
SURF1 surfeit 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
TACR3 tachykinin receptor 3
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TAT tyrosine aminotransferase
TAZ tafazzin
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TBX1 T-box 1
TCAP titin-cap
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TDP1 tyrosyl-DNA phosphodiesterase 1
TECPR2 tectonin beta-propeller repeat containing 2
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
TGM6 transglutaminase 6
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
THRB thyroid hormone receptor, beta
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TK2 thymidine kinase 2, mitochondrial
TLR4 toll-like receptor 4
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNT1 troponin T type 1 (skeletal, slow)
TOR1A torsin family 1, member A (torsin A)
TPI1 triosephosphate isomerase 1
TPK1 thiamin pyrophosphokinase 1
TPM2 tropomyosin 2 (beta)
TPP1 tripeptidyl peptidase I
TRAPPC11 trafficking protein particle complex 11
TRAPPC9 trafficking protein particle complex 9
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
TSHR thyroid stimulating hormone receptor
TSPYL1 TSPY-like 1
TTC19 tetratricopeptide repeat domain 19
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TTN titin
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUBB4A tubulin, beta 4A class IVa
TYROBP TYRO protein tyrosine kinase binding protein
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UFD1L ubiquitin fusion degradation 1 like (yeast)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UPB1 ureidopropionase, beta
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
UROC1 urocanate hydratase 1
UROD uroporphyrinogen decarboxylase
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VRK1 vaccinia related kinase 1
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR45 WD repeat domain 45
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZFP90 ZFP90 zinc finger protein
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27
ZMPSTE24 zinc metallopeptidase STE24
ZNF469 zinc finger protein 469
ZNF592 zinc finger protein 592