clitoromegaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Increased size of the clitoris. (Human Phenotype Ontology, HP_0000057)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000057
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Genes

21 genes associated with the clitoromegaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATR ATR serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CD96 CD96 molecule
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGFR2 fibroblast growth factor receptor 2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GRIP1 glutamate receptor interacting protein 1
INSR insulin receptor
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
POR P450 (cytochrome) oxidoreductase
TALDO1 transaldolase 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1