hypergonadotropic hypogonadism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. (Human Disease Ontology, DOID_5426)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000815
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Genes

23 genes associated with the hypergonadotropic hypogonadism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALMS1 Alstrom syndrome protein 1
BMP15 bone morphogenetic protein 15
BMPR1B bone morphogenetic protein receptor, type IB
C10ORF2 chromosome 10 open reading frame 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
GALT galactose-1-phosphate uridylyltransferase
LEPR leptin receptor
LHCGR luteinizing hormone/choriogonadotropin receptor
LMNA lamin A/C
PMM2 phosphomannomutase 2
POLG polymerase (DNA directed), gamma
RIN2 Ras and Rab interactor 2
SCP2 sterol carrier protein 2
SIL1 SIL1 nucleotide exchange factor
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3