hypoplastic female external genitalia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). (Human Phenotype Ontology, HP_0012815)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012815
Similar Terms
Downloads & Tools


20 genes associated with the hypoplastic female external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALTL beta 1,3-galactosyltransferase-like
CHD7 chromodomain helicase DNA binding protein 7
FGFR2 fibroblast growth factor receptor 2
IRF6 interferon regulatory factor 6
NDN necdin, melanoma antigen (MAGE) family member
NIPBL Nipped-B homolog (Drosophila)
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
POC1A POC1 centriolar protein A
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SNRPN small nuclear ribonucleoprotein polypeptide N
TP63 tumor protein p63
UBE3B ubiquitin protein ligase E3B
WNT5A wingless-type MMTV integration site family, member 5A