Abnormality Of The Hypothalamus-Pituitary Axis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C4025819
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Genes

70 genes associated with the disease Abnormality Of The Hypothalamus-Pituitary Axis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ANK1 ankyrin 1, erythrocytic
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARMC9 armadillo repeat containing 9
B9D1 B9 protein domain 1
BMP4 bone morphogenetic protein 4
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CSPP1 centrosome and spindle pole associated protein 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
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
FOXC1 forkhead box C1
FOXE3 forkhead box E3
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HFE hemochromatosis
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HYLS1 hydrolethalus syndrome 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KIAA0556 KIAA0556
KIAA0586 KIAA0586
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MKS1 Meckel syndrome, type 1
NPHP1 nephronophthisis 1 (juvenile)
PALB2 partner and localizer of BRCA2
PIBF1 progesterone immunomodulatory binding factor 1
PITX2 paired-like homeodomain 2
PNPLA6 patatin-like phospholipase domain containing 6
POU1F1 POU class 1 homeobox 1
PROP1 PROP paired-like homeobox 1
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RFWD3 ring finger and WD repeat domain 3
RNF216 ring finger protein 216
RPGRIP1L RPGRIP1-like
SLX4 SLX4 structure-specific endonuclease subunit
STEAP3 STEAP family member 3, metalloreductase
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
UBE2T ubiquitin-conjugating enzyme E2T
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZNF423 zinc finger protein 423