abnormality of central motor function Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the control or production of movement in the central nervous system. (Human Phenotype Ontology, HP_0011442)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011442
Similar Terms
Downloads & Tools

Genes

965 genes associated with the abnormality of central motor function 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
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
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
ABHD5 abhydrolase domain containing 5
ACO2 aconitase 2, mitochondrial
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
ADGRV1 adhesion G protein-coupled receptor V1
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIP aryl hydrocarbon receptor interacting protein
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
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALOX12B arachidonate 12-lipoxygenase, 12R type
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
ANO3 anoctamin 3
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
APOB apolipoprotein B
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APTX aprataxin
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)
ARL13B ADP-ribosylation factor-like 13B
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
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ASS1 argininosuccinate synthase 1
ATCAY ataxia, cerebellar, Cayman type
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
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
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 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
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
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEAN1 brain expressed, associated with NEDD4, 1
BEST1 bestrophin 1
BICD2 bicaudal D homolog 2 (Drosophila)
BMP15 bone morphogenetic protein 15
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAT1 BRCA1-associated ATM activator 1
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
C10ORF2 chromosome 10 open reading frame 2
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)
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
C9ORF72 chromosome 9 open reading frame 72
CA2 carbonic anhydrase II
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
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CAMTA1 calmodulin binding transcription activator 1
CAPN3 calpain 3, (p94)
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)
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CDK4 cyclin-dependent kinase 4
CDKL5 cyclin-dependent kinase-like 5
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CECR1 cat eye syndrome chromosome region, candidate 1
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
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
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN2 chloride channel, voltage-sensitive 2
CLIC2 chloride intracellular channel 2
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)
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
COA5 cytochrome c oxidase assembly factor 5
COASY CoA synthase
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLEC11 collectin sub-family member 11
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ9 coenzyme Q9
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
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRX cone-rod homeobox
CRYAB crystallin, alpha B
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
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CTSF cathepsin F
CUL4B cullin 4B
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
DCAF17 DDB1 and CUL4 associated factor 17
DCTN1 dynactin 1
DCX doublecortin
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DFNB31 deafness, autosomal recessive 31
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DMPK dystrophia myotonica-protein kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
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
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
DPYS dihydropyrimidinase
DRD2 dopamine receptor D2
DUSP6 dual specificity phosphatase 6
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EDNRB endothelin receptor type B
EEF2 eukaryotic translation elongation factor 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
EMX2 empty spiracles homeobox 2
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
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
ERLIN2 ER lipid raft associated 2
ETHE1 ethylmalonic encephalopathy 1
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
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
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
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FBXO7 F-box protein 7
FEZF1 FEZ family zinc finger 1
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
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
FOXI1 forkhead box I1
FOXP2 forkhead box P2
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FSCN2 fascin actin-bundling protein 2, retinal
FSHR follicle stimulating hormone receptor
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
GALT galactose-1-phosphate uridylyltransferase
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
GIGYF2 GRB10 interacting GYF protein 2
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
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GOSR2 golgi SNAP receptor complex member 2
GPHN gephyrin
GPI glucose-6-phosphate isomerase
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRM1 glutamate receptor, metabotropic 1
GRN granulin
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)
HARS histidyl-tRNA synthetase
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HESX1 HESX homeobox 1
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HIC1 hypermethylated in cancer 1
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
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
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
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
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
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
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
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
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
KCTD7 potassium channel tetramerization domain containing 7
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
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
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
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
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LDHA lactate dehydrogenase A
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIAS lipoic acid synthetase
LIMK1 LIM domain kinase 1
LINS lines homolog (Drosophila)
LMBRD1 LMBR1 domain containing 1
LMNB1 lamin B1
LOR loricrin
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRK2 leucine-rich repeat kinase 2
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAK male germ cell-associated kinase
MAN2B1 mannosidase, alpha, class 2B, member 1
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MAT1A methionine adenosyltransferase I, alpha
MATR3 matrin 3
MBD5 methyl-CpG binding domain protein 5
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
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
MFSD8 major facilitator superfamily domain containing 8
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
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)
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-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)
MTO1 mitochondrial tRNA translation optimization 1
MTPAP mitochondrial poly(A) polymerase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NAT8L N-acetyltransferase 8-like (GCN5-related, putative)
ND1
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
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
NEB nebulin
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
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
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
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR5A1 nuclear receptor subfamily 5, group A, member 1
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)
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPHN1 oligophrenin 1
OTC ornithine carbamoyltransferase
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
PARK7 parkinson protein 7
PAX1 paired box 1
PAX3 paired box 3
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
PCDH15 protocadherin-related 15
PCNA proliferating cell nuclear antigen
PDCD10 programmed cell death 10
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDYN prodynorphin
PDZD7 PDZ domain containing 7
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
PEX7 peroxisomal biogenesis factor 7
PFN1 profilin 1
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
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
PMM2 phosphomannomutase 2
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
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
POT1 protection of telomeres 1
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)
PRICKLE2 prickle homolog 2 (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
PSMC3IP PSMC3 interacting protein
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
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF170 ring finger protein 170
RNF216 ring finger protein 216
RNR1 RNA, ribosomal cluster 1
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
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SAMHD1 SAM domain and HD domain 1
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
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCP2 sterol carrier protein 2
SDCCAG8 serologically defined colon cancer antigen 8
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
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
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETBP1 SET binding protein 1
SETX senataxin
SFXN4 sideroflexin 4
SGCE sarcoglycan, epsilon
SHH sonic hedgehog
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
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
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
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
SLC26A4 solute carrier family 26 (anion exchanger), member 4
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
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
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
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
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
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCB synuclein, beta
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
SRPX2 sushi-repeat containing protein, X-linked 2
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
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
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 surfeit 1
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SYT14 synaptotagmin XIV
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACR3 tachykinin receptor 3
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
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)
TAT tyrosine aminotransferase
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TBX2 T-box 2
TBX4 T-box 4
TCF4 transcription factor 4
TCN2 transcobalamin II
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
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
TGM6 transglutaminase 6
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNNT1 troponin T type 1 (skeletal, slow)
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
TRAPPC11 trafficking protein particle complex 11
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRNE
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
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
TUBB tubulin, beta class I
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)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
UROC1 urocanate hydratase 1
UROD uroporphyrinogen decarboxylase
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VARS2 valyl-tRNA synthetase 2, mitochondrial
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)
VPS53 vacuolar protein sorting 53 homolog (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
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
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
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592