abnormality of female external genitalia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the female external genitalia. (Human Phenotype Ontology, HP_0000055)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000055
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Genes

90 genes associated with the abnormality of female external genitalia 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
ALMS1 Alstrom syndrome protein 1
AR androgen receptor
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATR ATR serine/threonine kinase
B3GALTL beta 1,3-galactosyltransferase-like
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CD96 CD96 molecule
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COX7B cytochrome c oxidase subunit VIIb
CXCR4 chemokine (C-X-C motif) receptor 4
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM58A family with sequence similarity 58, member A
FGFR2 fibroblast growth factor receptor 2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GRIP1 glutamate receptor interacting protein 1
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
INSR insulin receptor
IRF6 interferon regulatory factor 6
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MKS1 Meckel syndrome, type 1
NDN necdin, melanoma antigen (MAGE) family member
NIPBL Nipped-B homolog (Drosophila)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
POC1A POC1 centriolar protein A
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
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
SKI SKI proto-oncogene
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SRY sex determining region Y
TALDO1 transaldolase 1
TBC1D20 TBC1 domain family, member 20
TBX15 T-box 15
TNXB tenascin XB
TP63 tumor protein p63
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VAMP7 vesicle-associated membrane protein 7
WNT5A wingless-type MMTV integration site family, member 5A
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase