anterior hypopituitarism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. (Human Phenotype Ontology, HP_0000830)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000830
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Genes

79 genes associated with the anterior hypopituitarism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AIP aryl hydrocarbon receptor interacting protein
ALMS1 Alstrom syndrome protein 1
ANK1 ankyrin 1, erythrocytic
ANOS1 anosmin 1
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
B3GALTL beta 1,3-galactosyltransferase-like
BMP4 bone morphogenetic protein 4
BTK Bruton agammaglobulinemia tyrosine kinase
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
COX1
COX2
COX3
CRH corticotropin releasing hormone
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
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
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IL17RD interleukin 17 receptor D
KIAA0196 KIAA0196
KISS1R KISS1 receptor
LEPR leptin receptor
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
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
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OTX2 orthodenticle homeobox 2
PITX2 paired-like homeodomain 2
POMC proopiomelanocortin
POU1F1 POU class 1 homeobox 1
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
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
SIX6 SIX homeobox 6
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
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)
STAT5B signal transducer and activator of transcription 5B
TACR3 tachykinin receptor 3
TBX19 T-box 19
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR11 WD repeat domain 11