abnormality of muscle physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A functional abnormality of a skeletal muscle. (Human Phenotype Ontology, HP_0011804)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011804
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Genes

1183 genes associated with the abnormality of muscle physiology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AAAS achalasia, adrenocortical insufficiency, alacrimia
AARS alanyl-tRNA synthetase
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AASS aminoadipate-semialdehyde synthase
ABAT 4-aminobutyrate aminotransferase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACAD8 acyl-CoA dehydrogenase family, member 8
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP2 acid phosphatase 2, lysosomal
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ACY1 aminoacylase 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAR adenosine deaminase, RNA-specific
ADCK3 aarF domain containing kinase 3
ADCY5 adenylate cyclase 5
ADCY6 adenylate cyclase 6
ADGRG1 adhesion G protein-coupled receptor G1
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AGK acylglycerol kinase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGRN agrin
AHI1 Abelson helper integration site 1
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
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMACR alpha-methylacyl-CoA racemase
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMPD1 adenosine monophosphate deaminase 1
AMPD2 adenosine monophosphate deaminase 2
AMT aminomethyltransferase
ANG angiogenin, ribonuclease, RNase A family, 5
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANKH ANKH inorganic pyrophosphate transport regulator
ANO5 anoctamin 5
ANOS1 anosmin 1
ANTXR2 anthrax toxin receptor 2
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
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APTX aprataxin
AR androgen receptor
ARG1 arginase 1
ARHGAP31 Rho GTPase activating protein 31
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARMC5 armadillo repeat containing 5
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSA arylsulfatase A
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASCL1 achaete-scute family bHLH transcription factor 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATCAY ataxia, cerebellar, Cayman type
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATP10A ATPase, class V, type 10A
ATP13A2 ATPase type 13A2
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha 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
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
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GNT1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D1 B9 protein domain 1
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
BDNF brain-derived neurotrophic factor
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMS1 BMS1 ribosome biogenesis factor
BOLA3 bolA family member 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRWD3 bromodomain and WD repeat domain containing 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTD biotinidase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
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
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAMKMT calmodulin-lysine N-methyltransferase
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CCDC78 coiled-coil domain containing 78
CCR6 chemokine (C-C motif) receptor 6
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD59 CD59 molecule, complement regulatory protein
CD96 CD96 molecule
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CECR1 cat eye syndrome chromosome region, candidate 1
CEP126 centrosomal protein 126kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHL1 cell adhesion molecule L1-like
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)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLCF1 cardiotrophin-like cytokine factor 1
CLCN1 chloride channel, voltage-sensitive 1
CLCN7 chloride channel, voltage-sensitive 7
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNTN1 contactin 1
CNTN4 contactin 4
CNTNAP1 contactin associated protein 1
COA5 cytochrome c oxidase assembly factor 5
COASY CoA synthase
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
COG7 component of oligomeric golgi complex 7
COG8 component of oligomeric golgi complex 8
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A3 collagen, type IX, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
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)
CPOX coproporphyrinogen oxidase
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
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
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2 catenin (cadherin-associated protein), delta 2
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CTSH cathepsin H
CYB5R3 cytochrome b5 reductase 3
CYFIP1 cytoplasmic FMR1 interacting protein 1
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
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DARS aspartyl-tRNA synthetase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBT dihydrolipoamide branched chain transacylase E2
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DCX doublecortin
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DDR2 discoidin domain receptor tyrosine kinase 2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DES desmin
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHFR dihydrofolate reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DMD dystrophin
DMGDH dimethylglycine dehydrogenase
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNASE1L3 deoxyribonuclease I-like 3
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
DOLK dolichol kinase
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
DRD2 dopamine receptor D2
DRD5 dopamine receptor D5
DSE dermatan sulfate epimerase
DSG2 desmoglein 2
DST dystonin
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DUSP6 dual specificity phosphatase 6
DUX4 double homeobox 4
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EGR2 early growth response 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
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
ENO3 enolase 3 (beta, muscle)
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC6L2 excision repair cross-complementation group 6-like 2
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ERLIN2 ER lipid raft associated 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FA2H fatty acid 2-hydroxylase
FAM111A family with sequence similarity 111, member A
FAM126A family with sequence similarity 126, member A
FAM134B family with sequence similarity 134, member B
FASTKD2 FAST kinase domains 2
FBN1 fibrillin 1
FBP1 fructose-1,6-bisphosphatase 1
FBXO38 F-box protein 38
FBXO7 F-box protein 7
FEZF1 FEZ family zinc finger 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF17 fibroblast growth factor 17
FGF23 fibroblast growth factor 23
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP14 FK506 binding protein 14, 22 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
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRG1 FSHD region gene 1
FTL ferritin, light polypeptide
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FUS FUS RNA binding protein
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GAMT guanidinoacetate N-methyltransferase
GAN gigaxonin
GARS glycyl-tRNA synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATAD1 GATA zinc finger domain containing 1
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
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
GCK glucokinase (hexokinase 4)
GCM2 glial cells missing homolog 2 (Drosophila)
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDAP1 ganglioside induced differentiation associated protein 1
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
GFAP glial fibrillary acidic protein
GFM1 G elongation factor, mitochondrial 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
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
GM2A GM2 ganglioside activator
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
GOSR2 golgi SNAP receptor complex member 2
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPHN gephyrin
GPI glucose-6-phosphate isomerase
GRIA3 glutamate receptor, ionotropic, AMPA 3
GSN gelsolin
GSS glutathione synthetase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
GYG1 glycogenin 1
GYS1 glycogen synthase 1 (muscle)
HACD1 3-hydroxyacyl-CoA dehydratase 1
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HCRT hypocretin (orexin) neuropeptide precursor
HDAC4 histone deacetylase 4
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)
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HINT1 histidine triad nucleotide binding protein 1
HIRA histone cell cycle regulator
HK1 hexokinase 1
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HMGA2 high mobility group AT-hook 2
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXB1 homeobox B1
HPD 4-hydroxyphenylpyruvate dioxygenase
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
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
HTT huntingtin
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IGHMBP2 immunoglobulin mu binding protein 2
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
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
INF2 inverted formin, FH2 and WH2 domain containing
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
IQCB1 IQ motif containing B1
IRF5 interferon regulatory factor 5
ISCU iron-sulfur cluster assembly enzyme
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
ITM2B integral membrane protein 2B
IYD iodotyrosine deiodinase
JAM3 junctional adhesion molecule 3
KANK1 KN motif and ankyrin repeat domains 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KARS lysyl-tRNA synthetase
KAT6B K(lysine) acetyltransferase 6B
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
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNK9 potassium channel, two pore domain subfamily K, member 9
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
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA1033 KIAA1033
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF1BP KIF1 binding protein
KIF1C kinesin family member 1C
KIF22 kinesin family member 22
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
KLHL41 kelch-like family member 41
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT5 keratin 5, type II
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA2 laminin, alpha 2
LAMA4 laminin, alpha 4
LAMB2 laminin, beta 2 (laminin S)
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LDB3 LIM domain binding 3
LDHA lactate dehydrogenase A
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LITAF lipopolysaccharide-induced TNF factor
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMNB1 lamin B1
LOR loricrin
LPIN1 lipin 1
LPIN2 lipin 2
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LTC4S leukotriene C4 synthase
LYRM4 LYR motif containing 4
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MAMLD1 mastermind-like domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MATR3 matrin 3
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
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
MED25 mediator complex subunit 25
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MFN2 mitofusin 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MIPOL1 mirror-image polydactyly 1
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MLX MLX, MAX dimerization protein
MLYCD malonyl-CoA decarboxylase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
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
MOG myelin oligodendrocyte glycoprotein
MOGS mannosyl-oligosaccharide glucosidase
MPDU1 mannose-P-dolichol utilization defect 1
MPI mannose phosphate isomerase
MPLKIP M-phase specific PLK1 interacting protein
MPST mercaptopyruvate sulfurtransferase
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MRPS16 mitochondrial ribosomal protein S16
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
MTAP methylthioadenosine phosphorylase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MTO1 mitochondrial tRNA translation optimization 1
MTPAP mitochondrial poly(A) polymerase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUSK muscle, skeletal, receptor tyrosine kinase
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYBPC3 myosin binding protein C, cardiac
MYF6 myogenic factor 6 (herculin)
MYH14 myosin, heavy chain 14, non-muscle
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO5A myosin VA (heavy chain 12, myoxin)
MYOT myotilin
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
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
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
NECAP1 NECAP endocytosis associated 1
NEFL neurofilament, light polypeptide
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NEXN nexilin (F actin binding protein)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFU1 NFU1 iron-sulfur cluster scaffold
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 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
NT5C2 5'-nucleotidase, cytosolic II
NTNG1 netrin G1
NUBPL nucleotide binding protein-like
NUP62 nucleoporin 62kDa
OAT ornithine aminotransferase
OCA2 oculocutaneous albinism II
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
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
OPTN optineurin
ORAI1 ORAI calcium release-activated calcium modulator 1
P2RY11 purinergic receptor P2Y, G-protein coupled, 11
PABPN1 poly(A) binding protein, nuclear 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PANK2 pantothenate kinase 2
PAX1 paired box 1
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
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
PDE11A phosphodiesterase 11A
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE8B phosphodiesterase 8B
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
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
PFKM phosphofructokinase, muscle
PFN1 profilin 1
PGAM2 phosphoglycerate mutase 2 (muscle)
PGAP1 post-GPI attachment to proteins 1
PGK1 phosphoglycerate kinase 1
PGM1 phosphoglucomutase 1
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHOX2B paired-like homeobox 2b
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLN phospholamban
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
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
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POU1F1 POU class 1 homeobox 1
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PREPL prolyl endopeptidase-like
PRF1 perforin 1 (pore forming protein)
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRNP prion protein
PRODH proline dehydrogenase (oxidase) 1
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRTN3 proteinase 3
PRX periaxin
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH parathyroid hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
PTS 6-pyruvoyltetrahydropterin synthase
PUS1 pseudouridylate synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
PYGM phosphorylase, glycogen, muscle
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)
RAB7A RAB7A, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD50 RAD50 homolog (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RANBP2 RAN binding protein 2
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RB1 retinoblastoma 1
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM20 RNA binding motif protein 20
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
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFT1 RFT1 homolog (S. cerevisiae)
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
RNF216 ring finger protein 216
RNR1 RNA, ribosomal cluster 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROGDI rogdi homolog (Drosophila)
RPE65 retinal pigment epithelium-specific protein 65kDa
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)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RTEL1 regulator of telomere elongation helicase 1
RTN2 reticulon 2
RTTN rotatin
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SALL4 spalt-like transcription factor 4
SAMHD1 SAM domain and HD domain 1
SATB2 SATB homeobox 2
SBF2 SET binding factor 2
SC5D sterol-C5-desaturase
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
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
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPN1 selenoprotein N, 1
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SEPT9 septin 9
SERAC1 serine active site containing 1
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SETX senataxin
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCE sarcoglycan, epsilon
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH2B1 SH2B adaptor protein 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SIX5 SIX homeobox 5
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
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
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
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
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
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
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
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
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMS spermine synthase
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNRPN small nuclear ribonucleoprotein polypeptide N
SOD1 superoxide dismutase 1, soluble
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SPAST spastin
SPATA7 spermatogenesis associated 7
SPEG SPEG complex locus
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
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAC3 SH3 and cysteine rich domain 3
STAMBP STAM binding protein
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
STRA6 stimulated by retinoic acid 6
STRADA STE20-related kinase adaptor alpha
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
SYNE2 spectrin repeat containing, nuclear envelope 2
SYNGAP1 synaptic Ras GTPase activating protein 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
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)
TAZ tafazzin
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TCAP titin-cap
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TERT telomerase reverse transcriptase
TFG TRK-fused gene
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGM6 transglutaminase 6
TH tyrosine hydroxylase
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TK2 thymidine kinase 2, mitochondrial
TLR4 toll-like receptor 4
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM165 transmembrane protein 165
TMEM173 transmembrane protein 173
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM43 transmembrane protein 43
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TMPO thymopoietin
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT1 troponin T type 1 (skeletal, slow)
TNNT2 troponin T type 2 (cardiac)
TNPO3 transportin 3
TNXB tenascin XB
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TPK1 thiamin pyrophosphokinase 1
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPO thyroid peroxidase
TRAPPC11 trafficking protein particle complex 11
TRDN triadin
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRH thyrotropin-releasing hormone
TRHR thyrotropin-releasing hormone receptor
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRNE
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TTC19 tetratricopeptide repeat domain 19
TTN titin
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUBA1A tubulin, alpha 1a
TUBA8 tubulin, alpha 8
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
TXNRD2 thioredoxin reductase 2
TYMP thymidine phosphorylase
TYROBP TYRO protein tyrosine kinase binding protein
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPB1 ureidopropionase, beta
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCL vinculin
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR11 WD repeat domain 11
WDR45 WD repeat domain 45
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WISP3 WNT1 inducible signaling pathway protein 3
WNK1 WNK lysine deficient protein kinase 1
WWOX WW domain containing oxidoreductase
XK X-linked Kx blood group
XPA xeroderma pigmentosum, complementation group A
YARS tyrosyl-tRNA synthetase
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27
ZNF335 zinc finger protein 335
ZNF365 zinc finger protein 365
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZNF592 zinc finger protein 592