abnormality of the hypothalamus-pituitary axis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. (Human Phenotype Ontology, HP_0000864)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000864
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Genes

165 genes associated with the abnormality of the hypothalamus-pituitary axis 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
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
ALMS1 Alstrom syndrome protein 1
ANK1 ankyrin 1, erythrocytic
ANOS1 anosmin 1
AR androgen receptor
ARL13B ADP-ribosylation factor-like 13B
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
AVP arginine vasopressin
B3GALTL beta 1,3-galactosyltransferase-like
B9D1 B9 protein domain 1
BMP4 bone morphogenetic protein 4
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
C5ORF42 chromosome 5 open reading frame 42
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
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)
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
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
CSPP1 centrosome and spindle pole associated protein 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
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
ERCC4 excision repair cross-complementation group 4
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
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
FOXC1 forkhead box C1
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)
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IL17RD interleukin 17 receptor D
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INSR insulin receptor
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KISS1R KISS1 receptor
LEPR leptin receptor
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
MEN1 multiple endocrine neoplasia I
MKS1 Meckel syndrome, type 1
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
NPHP1 nephronophthisis 1 (juvenile)
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OFD1 oral-facial-digital syndrome 1
OTX2 orthodenticle homeobox 2
PALB2 partner and localizer of BRCA2
PAX8 paired box 8
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PITX2 paired-like homeodomain 2
PNPLA6 patatin-like phospholipase domain containing 6
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
PRTN3 proteinase 3
PTCH1 patched 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD51C RAD51 paralog C
RNF216 ring finger protein 216
RPGRIP1L RPGRIP1-like
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
SLX4 SLX4 structure-specific endonuclease subunit
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
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
TACR3 tachykinin receptor 3
TBX19 T-box 19
TBX3 T-box 3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
THRB thyroid hormone receptor, beta
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
TP63 tumor protein p63
TRH thyrotropin-releasing hormone
TSHR thyroid stimulating hormone receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR11 WD repeat domain 11
ZNF423 zinc finger protein 423