abnormality of circulating hormone level Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal concentration of a hormone in the blood. (Human Phenotype Ontology, HP_0003117)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003117
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Genes

139 genes associated with the abnormality of circulating hormone level phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
ALMS1 Alstrom syndrome protein 1
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
ANOS1 anosmin 1
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
BEST1 bestrophin 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CDHR1 cadherin-related family member 1
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CLCN5 chloride channel, voltage-sensitive 5
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRH corticotropin releasing hormone
CRX cone-rod homeobox
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DHDDS dehydrodolichyl diphosphate synthase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FOS FBJ murine osteosarcoma viral oncogene homolog
FSCN2 fascin actin-bundling protein 2, retinal
GCK glucokinase (hexokinase 4)
GH1 growth hormone 1
GHRHR growth hormone releasing hormone receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLUD1 glutamate dehydrogenase 1
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GUCA1B guanylate cyclase activator 1B (retina)
GYS2 glycogen synthase 2 (liver)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADH hydroxyacyl-CoA dehydrogenase
HESX1 HESX homeobox 1
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INSR insulin receptor
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KIAA0196 KIAA0196
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
LEP leptin
LEPR leptin receptor
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LMNA lamin A/C
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MAK male germ cell-associated kinase
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MERTK MER proto-oncogene, tyrosine kinase
MPI mannose phosphate isomerase
MRAP melanocortin 2 receptor accessory protein
NDN necdin, melanoma antigen (MAGE) family member
NEK2 NIMA-related kinase 2
NLGN4X neuroligin 4, X-linked
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OFD1 oral-facial-digital syndrome 1
PDE11A phosphodiesterase 11A
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PHEX phosphate regulating endopeptidase homolog, X-linked
PHKG2 phosphorylase kinase, gamma 2 (testis)
PITX2 paired-like homeodomain 2
POR P450 (cytochrome) oxidoreductase
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRCD progressive rod-cone degeneration
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PTRF polymerase I and transcript release factor
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
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
SAG S-antigen; retina and pineal gland (arrestin)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
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
SHH sonic hedgehog
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC7A14 solute carrier family 7, member 14
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SOST sclerostin
SOX3 SRY (sex determining region Y)-box 3
SPATA7 spermatogenesis associated 7
STAT5B signal transducer and activator of transcription 5B
STX16 syntaxin 16
TBX19 T-box 19
TMCO1 transmembrane and coiled-coil domains 1
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
ZMPSTE24 zinc metallopeptidase STE24
ZNF513 zinc finger protein 513