abnormality of the cardiovascular system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the cardiovascular system. (Human Phenotype Ontology, HP_0001626)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001626
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Genes

1227 genes associated with the abnormality of the cardiovascular system 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
AARS2 alanyl-tRNA synthetase 2, mitochondrial
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
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACAD8 acyl-CoA dehydrogenase family, member 8
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACE angiotensin I converting enzyme
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTA1 actin, alpha 1, skeletal muscle
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTC1 actin, alpha, cardiac muscle 1
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACTN2 actinin, alpha 2
ACVR2B activin A receptor, type IIB
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL2 ADAMTS-like 2
ADCY5 adenylate cyclase 5
ADK adenosine kinase
ADNP activity-dependent neuroprotector homeobox
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGK acylglycerol kinase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGXT alanine-glyoxylate aminotransferase
AHCY adenosylhomocysteinase
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
AKAP9 A kinase (PRKA) anchor protein 9
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALAS2 5'-aminolevulinate synthase 2
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALPL alkaline phosphatase, liver/bone/kidney
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANK1 ankyrin 1, erythrocytic
ANK2 ankyrin 2, neuronal
ANKRD11 ankyrin repeat domain 11
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
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
ARMC4 armadillo repeat containing 4
ARMC5 armadillo repeat containing 5
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASCL1 achaete-scute family bHLH transcription factor 1
ASS1 argininosuccinate synthase 1
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATM ATM serine/threonine kinase
ATOH7 atonal homolog 7 (Drosophila)
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVPR2 arginine vasopressin receptor 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
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
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BMP2 bone morphogenetic protein 2
BMPR1A bone morphogenetic protein receptor, type IA
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BOLA3 bolA family member 3
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)
BTK Bruton agammaglobulinemia tyrosine kinase
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
C12ORF57 chromosome 12 open reading frame 57
C21ORF59 chromosome 21 open reading frame 59
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
CA4 carbonic anhydrase IV
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALR calreticulin
CALR3 calreticulin 3
CANT1 calcium activated nucleotidase 1
CAPN5 calpain 5
CARD9 caspase recruitment domain family, member 9
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASQ2 calsequestrin 2 (cardiac muscle)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC22 coiled-coil domain containing 22
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC8 coiled-coil domain containing 8
CCM2 cerebral cavernous malformation 2
CCND2 cyclin D2
CCR6 chemokine (C-C motif) receptor 6
CD19 CD19 molecule
CD2AP CD2-associated protein
CD81 CD81 molecule
CD96 CD96 molecule
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CECR1 cat eye syndrome chromosome region, candidate 1
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CFAP53 cilia and flagella associated protein 53
CFC1 cripto, FRL-1, cryptic family 1
CFI complement factor I
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
CISD2 CDGSH iron sulfur domain 2
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN7 chloride channel, voltage-sensitive 7
CLCNKB chloride channel, voltage-sensitive Kb
CLDN1 claudin 1
CLEC7A C-type lectin domain family 7, member A
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNTN4 contactin 4
COA5 cytochrome c oxidase assembly factor 5
COG7 component of oligomeric golgi complex 7
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
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
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
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
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
COX7B cytochrome c oxidase subunit VIIb
CP ceruloplasmin (ferroxidase)
CPOX coproporphyrinogen oxidase
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRELD1 cysteine-rich with EGF-like domains 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRTAP cartilage associated protein
CRX cone-rod homeobox
CRYAB crystallin, alpha B
CSPP1 centrosome and spindle pole associated protein 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CST3 cystatin C
CTC1 CTS telomere maintenance complex component 1
CTCF CCCTC-binding factor (zinc finger protein)
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNA3 catenin (cadherin-associated protein), alpha 3
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2 catenin (cadherin-associated protein), delta 2
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSH cathepsin H
CUL3 cullin 3
CUL7 cullin 7
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCAF17 DDB1 and CUL4 associated factor 17
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DES desmin
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLD dihydrolipoamide dehydrogenase
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNAL1 dynein, axonemal, light chain 1
DNASE1L3 deoxyribonuclease I-like 3
DNM2 dynamin 2
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DPP6 dipeptidyl-peptidase 6
DSC2 desmocollin 2
DSE dermatan sulfate epimerase
DSG1 desmoglein 1
DSG2 desmoglein 2
DSP desmoplakin
DST dystonin
DTNA dystrobrevin, alpha
DUSP6 dual specificity phosphatase 6
DUX4 double homeobox 4
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
DYX1C1 dyslexia susceptibility 1 candidate 1
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDN3 endothelin 3
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ELAC2 elaC ribonuclease Z 2
ELN elastin
EMD emerin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPCAM epithelial cell adhesion molecule
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPOR erythropoietin receptor
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETHE1 ethylmalonic encephalopathy 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA4 EYA transcriptional coactivator and phosphatase 4
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F10 coagulation factor X
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FADD Fas (TNFRSF6)-associated via death domain
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM161A family with sequence similarity 161, member A
FAM58A family with sequence similarity 58, 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
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FBP1 fructose-1,6-bisphosphatase 1
FBXL4 F-box and leucine-rich repeat protein 4
FEZF1 FEZ family zinc finger 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF17 fibroblast growth factor 17
FGF20 fibroblast growth factor 20
FGF23 fibroblast growth factor 23
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FLT4 fms-related tyrosine kinase 4
FMO3 flavin containing monooxygenase 3
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FNBP4 formin binding protein 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FRG1 FSHD region gene 1
FSCN2 fascin actin-bundling protein 2, retinal
FTL ferritin, light polypeptide
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
FXN frataxin
FZD4 frizzled class receptor 4
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GATAD1 GATA zinc finger domain containing 1
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCM2 glial cells missing homolog 2 (Drosophila)
GDF1 growth differentiation factor 1
GDF2 growth differentiation factor 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPD1L glycerol-3-phosphate dehydrogenase 1-like
GPX4 glutathione peroxidase 4
GREM1 gremlin 1, DAN family BMP antagonist
GRIP1 glutamate receptor interacting protein 1
GSN gelsolin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUSB glucuronidase, beta
GYG1 glycogenin 1
GYS1 glycogen synthase 1 (muscle)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
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
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HCRT hypocretin (orexin) neuropeptide precursor
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIC1 hypermethylated in cancer 1
HIRA histone cell cycle regulator
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
HMBS hydroxymethylbilane synthase
HNF1B HNF1 homeobox B
HOXA1 homeobox A1
HOXA13 homeobox A13
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPS1 Hermansky-Pudlak syndrome 1
HPSE2 heparanase 2 (inactive)
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
HYLS1 hydrolethalus syndrome 1
ICOS inducible T-cell co-stimulator
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF2 insulin-like growth factor 2
IGFBP7 insulin-like growth factor binding protein 7
IGHV4-34 immunoglobulin heavy variable 4-34
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
IL10RA interleukin 10 receptor, alpha
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
IL6 interleukin 6
IMPAD1 inositol monophosphatase domain containing 1
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
IRF5 interferon regulatory factor 5
IRX5 iroquois homeobox 5
ISCU iron-sulfur cluster assembly enzyme
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA8 integrin, alpha 8
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
IVD isovaleryl-CoA dehydrogenase
JAG1 jagged 1
JAK2 Janus kinase 2
JPH2 junctophilin 2
JUP junction plakoglobin
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KDR kinase insert domain receptor
KIAA0196 KIAA0196
KIAA0319L KIAA0319-like
KIF11 kinesin family member 11
KIF1B kinesin family member 1B
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KIZ kizuna centrosomal protein
KL klotho
KLF1 Kruppel-like factor 1 (erythroid)
KLHL3 kelch-like family member 3
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT71 keratin 71, type II
KRT74 keratin 74, type II
LAMA4 laminin, alpha 4
LAMB2 laminin, beta 2 (laminin S)
LAMP2 lysosomal-associated membrane protein 2
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LDB3 LIM domain binding 3
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPC lipase, hepatic
LIPH lipase, member H
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMNB1 lamin B1
LMX1B LIM homeobox transcription factor 1, beta
LPA lipoprotein, Lp(a)
LPAR6 lysophosphatidic acid receptor 6
LPIN2 lipin 2
LPL lipoprotein lipase
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LRRC6 leucine rich repeat containing 6
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LTBP2 latent transforming growth factor beta binding protein 2
LTBP4 latent transforming growth factor beta binding protein 4
LYST lysosomal trafficking regulator
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAK male germ cell-associated kinase
MAMLD1 mastermind-like domain containing 1
MANBA mannosidase, beta A, lysosomal
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13-like
MEFV Mediterranean fever
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MEOX1 mesenchyme homeobox 1
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MGP matrix Gla protein
MID1 midline 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MLX MLX, MAX dimerization protein
MLYCD malonyl-CoA decarboxylase
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MNX1 motor neuron and pancreas homeobox 1
MOG myelin oligodendrocyte glycoprotein
MPL MPL proto-oncogene, thrombopoietin receptor
MPLKIP M-phase specific PLK1 interacting protein
MPST mercaptopyruvate sulfurtransferase
MRPL3 mitochondrial ribosomal protein L3
MRPL44 mitochondrial ribosomal protein L44
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
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-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTO1 mitochondrial tRNA translation optimization 1
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYBPC3 myosin binding protein C, cardiac
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYH11 myosin, heavy chain 11, smooth muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYH9 myosin, heavy chain 9, non-muscle
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
MYLK myosin light chain kinase
MYLK2 myosin light chain kinase 2
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
MYOT myotilin
MYOZ2 myozenin 2
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
ND1
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
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
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)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEK1 NIMA-related kinase 1
NEK2 NIMA-related kinase 2
NEK8 NIMA-related kinase 8
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)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFU1 NFU1 iron-sulfur cluster scaffold
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NOTCH2 notch 2
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
NPPA natriuretic peptide A
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR2F2 nuclear receptor subfamily 2, group F, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NRXN1 neurexin 1
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
NT5E 5'-nucleotidase, ecto (CD73)
NTNG1 netrin G1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUBPL nucleotide binding protein-like
NUP155 nucleoporin 155kDa
OBSL1 obscurin-like 1
OFD1 oral-facial-digital syndrome 1
OTC ornithine carbamoyltransferase
OTX2 orthodenticle homeobox 2
P2RY11 purinergic receptor P2Y, G-protein coupled, 11
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PDCD10 programmed cell death 10
PDE11A phosphodiesterase 11A
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
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
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
PGM1 phosphoglucomutase 1
PHGDH phosphoglycerate dehydrogenase
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
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKP2 plakophilin 2
PLAU plasminogen activator, urokinase
PLG plasminogen
PLIN1 perilipin 1
PLN phospholamban
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMM2 phosphomannomutase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNMT phenylethanolamine N-methyltransferase
PNP purine nucleoside phosphorylase
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
POU6F2 POU class 6 homeobox 2
PPARG peroxisome proliferator-activated receptor gamma
PPOX protoporphyrinogen oxidase
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRG4 proteoglycan 4
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PRKCSH protein kinase C substrate 80K-H
PRKG1 protein kinase, cGMP-dependent, type I
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROS1 protein S (alpha)
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
PRRX1 paired related homeobox 1
PRTN3 proteinase 3
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTGIS prostaglandin I2 (prostacyclin) synthase
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN14 protein tyrosine phosphatase, non-receptor type 14
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
PUF60 poly-U binding splicing factor 60KDa
PYGM phosphorylase, glycogen, muscle
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RB1 retinoblastoma 1
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM10 RNA binding motif protein 10
RBM20 RNA binding motif protein 20
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
REN renin
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RHO rhodopsin
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RLBP1 retinaldehyde binding protein 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF213 ring finger protein 213
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
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
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCARF2 scavenger receptor class F, member 2
SCN1B sodium channel, voltage gated, type I beta subunit
SCN3B sodium channel, voltage gated, type III beta subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1A sodium channel, non voltage gated 1 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
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23A Sec23 homolog A (S. cerevisiae)
SEC63 SEC63 homolog (S. cerevisiae)
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
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
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SETBP1 SET binding protein 1
SETX senataxin
SF3B4 splicing factor 3b, subunit 4, 49kDa
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGSH N-sulfoglucosamine sulfohydrolase
SH2B1 SH2B adaptor protein 1
SH2B3 SH2B adaptor protein 3
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIM1 single-minded family bHLH transcription factor 1
SKI SKI proto-oncogene
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
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
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC7A14 solute carrier family 7, member 14
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMAD6 SMAD family member 6
SMAD9 SMAD family member 9
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
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
SMOC1 SPARC related modular calcium binding 1
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)
SNIP1 Smad nuclear interacting protein 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNTA1 syntrophin, alpha 1
SNX10 sorting nexin 10
SNX3 sorting nexin 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SP110 SP110 nuclear body protein
SP7 Sp7 transcription factor
SPAG1 sperm associated antigen 1
SPATA7 spermatogenesis associated 7
SPEG SPEG complex locus
SPRY4 sprouty homolog 4 (Drosophila)
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
SSTR5 somatostatin receptor 5
STAMBP STAM binding protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
STK4 serine/threonine kinase 4
STRA6 stimulated by retinoic acid 6
STRADA STE20-related kinase adaptor alpha
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
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
TALDO1 transaldolase 1
TAZ tafazzin
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX20 T-box 20
TBX22 T-box 22
TBX3 T-box 3
TBX4 T-box 4
TBX5 T-box 5
TBX6 T-box 6
TCAP titin-cap
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TEK TEK tyrosine kinase, endothelial
TET2 tet methylcytosine dioxygenase 2
TF transferrin
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THOC6 THO complex 6
THPO thrombopoietin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TLL1 tolloid-like 1
TLR4 toll-like receptor 4
TMCO1 transmembrane and coiled-coil domains 1
TMEM126A transmembrane protein 126A
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM43 transmembrane protein 43
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TMPO thymopoietin
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNXB tenascin XB
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP53 tumor protein p53
TP63 tumor protein p63
TPI1 triosephosphate isomerase 1
TPK1 thiamin pyrophosphokinase 1
TPM1 tropomyosin 1 (alpha)
TPM3 tropomyosin 3
TRAF3IP2 TRAF3 interacting protein 2
TRDN triadin
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRIP11 thyroid hormone receptor interactor 11
TRNE
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSFM Ts translation elongation factor, mitochondrial
TSHR thyroid stimulating hormone receptor
TSPYL1 TSPY-like 1
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
TTC8 tetratricopeptide repeat domain 8
TTN titin
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
TXNRD2 thioredoxin reductase 2
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UROD uroporphyrinogen decarboxylase
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL1 VANGL planar cell polarity protein 1
VCL vinculin
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
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)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIPF1 WAS/WASL interacting protein family, member 1
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XK X-linked Kx blood group
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24
ZMYND10 zinc finger, MYND-type containing 10
ZNF365 zinc finger protein 365
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513