abnormality of female internal genitalia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the female internal genitalia. (Human Phenotype Ontology, HP_0000008)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000008
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Genes

325 genes associated with the abnormality of female internal genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AGGF1 angiogenic factor with G patch and FHA domains 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALMS1 Alstrom syndrome protein 1
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
AR androgen receptor
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATM ATM serine/threonine kinase
AXIN1 axin 1
AXIN2 axin 2
B3GALTL beta 1,3-galactosyltransferase-like
BAX BCL2-associated X protein
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BMP15 bone morphogenetic protein 15
BMP4 bone morphogenetic protein 4
BMPR1A bone morphogenetic protein receptor, type IA
BMPR1B bone morphogenetic protein receptor, type IB
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C10ORF2 chromosome 10 open reading frame 2
CARD9 caspase recruitment domain family, member 9
CAV1 caveolin 1, caveolae protein, 22kDa
CBX2 chromobox homolog 2
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COL3A1 collagen, type III, alpha 1
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CREBBP CREB binding protein
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCR4 chemokine (C-X-C motif) receptor 4
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
DCC DCC netrin 1 receptor
DHCR7 7-dehydrocholesterol reductase
DHH desert hedgehog
DIAPH2 diaphanous-related formin 2
DKC1 dyskeratosis congenita 1, dyskerin
DLL3 delta-like 3 (Drosophila)
DMRT1 doublesex and mab-3 related transcription factor 1
DMRT2 doublesex and mab-3 related transcription factor 2
DUSP6 dual specificity phosphatase 6
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELN elastin
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
ERCC4 excision repair cross-complementation group 4
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ESR1 estrogen receptor 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EWSR1 EWS RNA-binding protein 1
F10 coagulation factor X
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FAM58A family with sequence similarity 58, member A
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
FEZF1 FEZ family zinc finger 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGF17 fibroblast growth factor 17
FGF20 fibroblast growth factor 20
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FH fumarate hydratase
FIGLA folliculogenesis specific basic helix-loop-helix
FLCN folliculin
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
GALT galactose-1-phosphate uridylyltransferase
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GFI1B growth factor independent 1B transcription repressor
GHR growth hormone receptor
GNAS GNAS complex locus
GNRHR gonadotropin-releasing hormone receptor
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HFE hemochromatosis
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HIRA histone cell cycle regulator
HMGA2 high mobility group AT-hook 2
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HOXA13 homeobox A13
HOXD13 homeobox D13
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HYLS1 hydrolethalus syndrome 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFT27 intraflagellar transport 27
IL10RB interleukin 10 receptor, beta
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL17RD interleukin 17 receptor D
INSR insulin receptor
IRF6 interferon regulatory factor 6
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA8 integrin, alpha 8
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LHX4 LIM homeobox 4
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LZTFL1 leucine zipper transcription factor-like 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MCC mutated in colorectal cancers
MCFD2 multiple coagulation factor deficiency 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MNX1 motor neuron and pancreas homeobox 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSX1 msh homeobox 1
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
NBN nibrin
NDN necdin, melanoma antigen (MAGE) family member
NHP2 NHP2 ribonucleoprotein
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NOBOX NOBOX oogenesis homeobox
NOP10 NOP10 ribonucleoprotein
NPHP1 nephronophthisis 1 (juvenile)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX2 paired box 2
PAX3 paired box 3
PCSK1 proprotein convertase subtilisin/kexin type 1
PDGFRL platelet-derived growth factor receptor-like
PHGDH phosphoglycerate dehydrogenase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLAU plasminogen activator, urokinase
PLG plasminogen
PLIN1 perilipin 1
PMM2 phosphomannomutase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POF1B premature ovarian failure, 1B
POLG polymerase (DNA directed), gamma
POR P450 (cytochrome) oxidoreductase
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRLR prolactin receptor
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PSMC3IP PSMC3 interacting protein
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRJ protein tyrosine phosphatase, receptor type, J
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAD54B RAD54 homolog B (S. cerevisiae)
RARB retinoic acid receptor, beta
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RNF216 ring finger protein 216
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SDCCAG8 serologically defined colon cancer antigen 8
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SOX18 SRY (sex determining region Y)-box 18
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SPRY4 sprouty homolog 4 (Drosophila)
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
SSTR5 somatostatin receptor 5
STAG3 stromal antigen 3
STAT1 signal transducer and activator of transcription 1, 91kDa
STK11 serine/threonine kinase 11
STRA6 stimulated by retinoic acid 6
SUFU suppressor of fused homolog (Drosophila)
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX3 T-box 3
TBX6 T-box 6
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THOC6 THO complex 6
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNXB tenascin XB
TP53 tumor protein p53
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRIM32 tripartite motif containing 32
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC8 tetratricopeptide repeat domain 8
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
USB1 U6 snRNA biogenesis 1
VAMP7 vesicle-associated membrane protein 7
VANGL1 VANGL planar cell polarity protein 1
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WIPF1 WAS/WASL interacting protein family, member 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 4
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase