abnormality of the pituitary gland Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the pituitary gland. (Human Phenotype Ontology, HP_0012503)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012503
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Genes

113 genes associated with the abnormality of the pituitary gland phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
ALMS1 Alstrom syndrome protein 1
ANK1 ankyrin 1, erythrocytic
ANOS1 anosmin 1
AR androgen receptor
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
AVP arginine vasopressin
B3GALTL beta 1,3-galactosyltransferase-like
BMP4 bone morphogenetic protein 4
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
CAV1 caveolin 1, caveolae protein, 22kDa
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CNBP CCHC-type zinc finger, nucleic acid binding protein
COX1
COX2
COX3
CRH corticotropin releasing hormone
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
DUSP6 dual specificity phosphatase 6
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXL2 forkhead box L2
FSHR follicle stimulating hormone receptor
GH1 growth hormone 1
GHRHR growth hormone releasing hormone receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GMPPA GDP-mannose pyrophosphorylase A
GNAS GNAS complex locus
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IL17RD interleukin 17 receptor D
INSR insulin receptor
KIAA0196 KIAA0196
KISS1R KISS1 receptor
LEPR leptin receptor
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
MEN1 multiple endocrine neoplasia I
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-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NDN necdin, melanoma antigen (MAGE) family member
NKX2-1 NK2 homeobox 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OTX2 orthodenticle homeobox 2
PAX8 paired box 8
PITX2 paired-like homeodomain 2
POMC proopiomelanocortin
POU1F1 POU class 1 homeobox 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCA protein kinase C, alpha
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
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
SHH sonic hedgehog
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPRY4 sprouty homolog 4 (Drosophila)
SSTR5 somatostatin receptor 5
STAG3 stromal antigen 3
STAT5B signal transducer and activator of transcription 5B
TACR3 tachykinin receptor 3
TBX19 T-box 19
TBX3 T-box 3
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
TSHR thyroid stimulating hormone receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR11 WD repeat domain 11