abnormality of the endocrine system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000818
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACP5 acid phosphatase 5, tartrate resistant
ACTG2 actin, gamma 2, smooth muscle, enteric
ADA adenosine deaminase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALAS2 5'-aminolevulinate synthase 2
ALDOA aldolase A, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
ANK1 ankyrin 1, erythrocytic
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APC adenomatous polyposis coli
AQP2 aquaporin 2 (collecting duct)
AR androgen receptor
ARL13B ADP-ribosylation factor-like 13B
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATM ATM serine/threonine kinase
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
B3GALTL beta 1,3-galactosyltransferase-like
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BIRC3 baculoviral IAP repeat containing 3
BLK BLK proto-oncogene, Src family tyrosine kinase
BLM Bloom syndrome, RecQ helicase-like
BMP15 bone morphogenetic protein 15
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
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
C1S complement component 1, s subcomponent
C2ORF71 chromosome 2 open reading frame 71
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCDC6 coiled-coil domain containing 6
CD36 CD36 molecule (thrombospondin receptor)
CDC73 cell division cycle 73
CDHR1 cadherin-related family member 1
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEL carboxyl ester lipase
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CISD2 CDGSH iron sulfur domain 2
CLCN5 chloride channel, voltage-sensitive 5
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLIP2 CAP-GLY domain containing linker protein 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
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
COL4A5 collagen, type IV, alpha 5
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX2
COX3
CP ceruloplasmin (ferroxidase)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CRX cone-rod homeobox
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CUL4B cullin 4B
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
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
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
DCLRE1C DNA cross-link repair 1C
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHH desert hedgehog
DICER1 dicer 1, ribonuclease type III
DIO1 deiodinase, iodothyronine, type I
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DMPK dystrophia myotonica-protein kinase
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DUSP6 dual specificity phosphatase 6
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELN elastin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC8 excision repair cross-complementation group 8
ESR1 estrogen receptor 1
EYA1 EYA transcriptional coactivator and phosphatase 1
EYS eyes shut homolog (Drosophila)
F10 coagulation factor X
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAM111B family with sequence similarity 111, member B
FAM161A family with sequence similarity 161, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBLN5 fibulin 5
FBN1 fibrillin 1
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
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGG fibrinogen gamma chain
FLCN folliculin
FLII flightless I homolog (Drosophila)
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FOXI1 forkhead box I1
FOXL2 forkhead box L2
FOXP1 forkhead box P1
FOXP3 forkhead box P3
FSCN2 fascin actin-bundling protein 2, retinal
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
FXN frataxin
G6PC glucose-6-phosphatase, catalytic subunit
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALT galactose-1-phosphate uridylyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GCK glucokinase (hexokinase 4)
GCM2 glial cells missing homolog 2 (Drosophila)
GDNF glial cell derived neurotrophic factor
GFI1B growth factor independent 1B transcription repressor
GH1 growth hormone 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GIP gastric inhibitory polypeptide
GJA1 gap junction protein, alpha 1, 43kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GK glycerol kinase
GLA galactosidase, alpha
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLIS3 GLIS family zinc finger 3
GLUD1 glutamate dehydrogenase 1
GMPPA GDP-mannose pyrophosphorylase A
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GOLGA5 golgin A5
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GPC3 glypican 3
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GYS2 glycogen synthase 2 (liver)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HADH hydroxyacyl-CoA dehydrogenase
HAMP hepcidin antimicrobial peptide
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HBB hemoglobin, beta
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HIRA histone cell cycle regulator
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
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HPD 4-hydroxyphenylpyruvate dioxygenase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IER3IP1 immediate early response 3 interacting protein 1
IFT27 intraflagellar transport 27
IL17RD interleukin 17 receptor D
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
INSR insulin receptor
IRX5 iroquois homeobox 5
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)
ITS Insulinoma tumor suppressor gene locus
IYD iodotyrosine deiodinase
JAG1 jagged 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
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
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF1B kinesin family member 1B
KIF7 kinesin family member 7
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIZ kizuna centrosomal protein
KLF11 Kruppel-like factor 11
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
L1CAM L1 cell adhesion molecule
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LEMD3 LEM domain containing 3
LEP leptin
LEPR leptin receptor
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LMNA lamin A/C
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP4 low density lipoprotein receptor-related protein 4
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MAK male germ cell-associated kinase
MALT1 MALT1 paracaspase
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCFD2 multiple coagulation factor deficiency 2
MCM4 minichromosome maintenance complex component 4
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEN1 multiple endocrine neoplasia I
MERTK MER proto-oncogene, tyrosine kinase
MINPP1 multiple inositol-polyphosphate phosphatase 1
MKKS McKusick-Kaufman syndrome
MKRN3 makorin ring finger protein 3
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MPI mannose phosphate isomerase
MRAP melanocortin 2 receptor accessory protein
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
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
NCOA4 nuclear receptor coactivator 4
ND1
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NEUROD1 neuronal differentiation 1
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHP2 NHP2 ribonucleoprotein
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NLGN4X neuroligin 4, X-linked
NOP10 NOP10 ribonucleoprotein
NPHP1 nephronophthisis 1 (juvenile)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NRTN neurturin
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
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OTX2 orthodenticle homeobox 2
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX2 paired box 2
PAX4 paired box 4
PAX8 paired box 8
PCM1 pericentriolar material 1
PCNT pericentrin
PCSK1 proprotein convertase subtilisin/kexin type 1
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
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
PDX1 pancreatic and duodenal homeobox 1
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
PGM1 phosphoglucomutase 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PLAU plasminogen activator, urokinase
PLCD1 phospholipase C, delta 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLIN1 perilipin 1
PMM2 phosphomannomutase 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
POC1A POC1 centriolar protein A
POF1B premature ovarian failure, 1B
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMC proopiomelanocortin
POR P450 (cytochrome) oxidoreductase
POU1F1 POU class 1 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCA protein kinase C, alpha
PRLR prolactin receptor
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROP1 PROP paired-like homeobox 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PSMC3IP PSMC3 interacting protein
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
PUS1 pseudouridylate synthase 1
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RBM28 RNA binding motif protein 28
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
REN renin
RENBP renin binding protein
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RIN2 Ras and Rab interactor 2
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF216 ring finger protein 216
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1L RPGRIP1-like
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTEL1 regulator of telomere elongation helicase 1
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SCN4A sodium channel, voltage gated, type IV 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
SCP2 sterol carrier protein 2
SDHAF2 succinate dehydrogenase complex assembly factor 2
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
SECISBP2 SECIS binding protein 2
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
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETBP1 SET binding protein 1
SHH sonic hedgehog
SIL1 SIL1 nucleotide exchange factor
SIX3 SIX homeobox 3
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
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
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
SLC7A14 solute carrier family 7, member 14
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPATA7 spermatogenesis associated 7
SPINK1 serine peptidase inhibitor, Kazal type 1
SPRY4 sprouty homolog 4 (Drosophila)
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
SSTR5 somatostatin receptor 5
STAG3 stromal antigen 3
STAR steroidogenic acute regulatory protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5B signal transducer and activator of transcription 5B
STEAP3 STEAP family member 3, metalloreductase
STK11 serine/threonine kinase 11
STRADA STE20-related kinase adaptor alpha
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STX16 syntaxin 16
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TBC1D7 TBC1 domain family, member 7
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX19 T-box 19
TBX3 T-box 3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TF transferrin
TFR2 transferrin receptor 2
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TNXB tenascin XB
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP53 tumor protein p53
TP63 tumor protein p63
TPO thyroid peroxidase
TRH thyrotropin-releasing hormone
TRHR thyrotropin-releasing hormone receptor
TRIM24 tripartite motif containing 24
TRIM32 tripartite motif containing 32
TRIM33 tripartite motif containing 33
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRNE
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
USB1 U6 snRNA biogenesis 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAMP7 vesicle-associated membrane protein 7
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VAX1 ventral anterior homeobox 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
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
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 4
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
ZFP57 ZFP57 zinc finger protein
ZMPSTE24 zinc metallopeptidase STE24
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513