abnormal internal female genitalia morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina (Mammalian Phenotype Ontology, MP_0009209)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009209
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Genes

322 gene mutations causing the abnormal internal female genitalia morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSL4 acyl-CoA synthetase long-chain family member 4
ACVR2A activin A receptor, type IIA
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADM adrenomedullin
ADRM1 adhesion regulating molecule 1
AFP alpha-fetoprotein
AHR aryl hydrocarbon receptor
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
AMBP alpha-1-microglobulin/bikunin precursor
AMH anti-Mullerian hormone
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
AR androgen receptor
ARID5B AT rich interactive domain 5B (MRF1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
BAX BCL2-associated X protein
BBS4 Bardet-Biedl syndrome 4
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BECN1 beclin 1, autophagy related
BMF Bcl2 modifying factor
BMP15 bone morphogenetic protein 15
BMP5 bone morphogenetic protein 5
BMPR1B bone morphogenetic protein receptor, type IB
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
CABLES1 Cdk5 and Abl enzyme substrate 1
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CALCRL calcitonin receptor-like
CAMK4 calcium/calmodulin-dependent protein kinase IV
CASP2 caspase 2, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CBX2 chromobox homolog 2
CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough
CCDC79 coiled-coil domain containing 79
CCNB1IP1 cyclin B1 interacting protein 1, E3 ubiquitin protein ligase
CCND2 cyclin D2
CCS copper chaperone for superoxide dismutase
CD44 CD44 molecule (Indian blood group)
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDK6 cyclin-dependent kinase 6
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CENPB centromere protein B, 80kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CGA glycoprotein hormones, alpha polypeptide
CHD2 chromodomain helicase DNA binding protein 2
CHST10 carbohydrate sulfotransferase 10
CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COL1A1 collagen, type I, alpha 1
COMT catechol-O-methyltransferase
CPEB1 cytoplasmic polyadenylation element binding protein 1
CR1L complement component (3b/4b) receptor 1-like
CRTC1 CREB regulated transcription coactivator 1
CSF1 colony stimulating factor 1 (macrophage)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAZ2 deleted in azoospermia 2
DAZAP1 DAZ associated protein 1
DDR2 discoidin domain receptor tyrosine kinase 2
DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
DFNB31 deafness, autosomal recessive 31
DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58
DLG1 discs, large homolog 1 (Drosophila)
DMC1 DNA meiotic recombinase 1
DMRTA1 DMRT-like family A1
DND1 DND microRNA-mediated repression inhibitor 1
DRD2 dopamine receptor D2
EBF2 early B-cell factor 2
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGFR epidermal growth factor receptor
EGR1 early growth response 1
ELAVL1 ELAV like RNA binding protein 1
EMX2 empty spiracles homeobox 2
EPHA1 EPH receptor A1
ERRFI1 ERBB receptor feedback inhibitor 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EWSR1 EWS RNA-binding protein 1
EXO1 exonuclease 1
FADS2 fatty acid desaturase 2
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCG Fanconi anemia, complementation group G
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FIGLA folliculogenesis specific basic helix-loop-helix
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FOXJ1 forkhead box J1
FOXL2 forkhead box L2
FOXN1 forkhead box N1
FOXO3 forkhead box O3
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FST follistatin
FZD1 frizzled class receptor 1
FZD4 frizzled class receptor 4
GADD45G growth arrest and DNA-damage-inducible, gamma
GALP galanin-like peptide
GATA5 GATA binding protein 5
GDF9 growth differentiation factor 9
GDNF glial cell derived neurotrophic factor
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJA4 gap junction protein, alpha 4, 37kDa
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GPC3 glypican 3
GPR149 G protein-coupled receptor 149
HCST hematopoietic cell signal transducer
HELQ helicase, POLQ-like
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HMGA2 high mobility group AT-hook 2
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA13 homeobox A13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSF2 heat shock transcription factor 2
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IGF2R insulin-like growth factor 2 receptor
IL11RA interleukin 11 receptor, alpha
IL15 interleukin 15
IL2RG interleukin 2 receptor, gamma
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
INHA inhibin, alpha
INHBA inhibin, beta A
IRS2 insulin receptor substrate 2
ITGB7 integrin, beta 7
KIF19 kinesin family member 19
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KL klotho
KPNA1 karyopherin alpha 1 (importin alpha 5)
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
LAMC1 laminin, gamma 1 (formerly LAMB2)
LATS1 large tumor suppressor kinase 1
LBR lamin B receptor
LEP leptin
LEPR leptin receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LHFPL2 lipoma HMGIC fusion partner-like 2
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LHX9 LIM homeobox 9
LIF leukemia inhibitory factor
LIN28A lin-28 homolog A (C. elegans)
LIPC lipase, hepatic
LMX1A LIM homeobox transcription factor 1, alpha
LOXL1 lysyl oxidase-like 1
LRP2 low density lipoprotein receptor-related protein 2
LZTS2 leucine zipper, putative tumor suppressor 2
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAGEL2 melanoma antigen family L2
MARK2 MAP/microtubule affinity-regulating kinase 2
MCM8 minichromosome maintenance complex component 8
MCM9 minichromosome maintenance complex component 9
MCPH1 microcephalin 1
MEI4 meiosis-specific 4 homolog (S. cerevisiae)
MEIOB meiosis specific with OB domains
MEN1 multiple endocrine neoplasia I
MEOX2 mesenchyme homeobox 2
MERTK MER proto-oncogene, tyrosine kinase
MIDN midnolin
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MOS v-mos Moloney murine sarcoma viral oncogene homolog
MSH4 mutS homolog 4
MSH5 mutS homolog 5
MST1R macrophage stimulating 1 receptor
NANOS3 nanos homolog 3 (Drosophila)
NBN nibrin
NCOA3 nuclear receptor coactivator 3
NHLH2 nescient helix loop helix 2
NOBOX NOBOX oogenesis homeobox
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
NPR2 natriuretic peptide receptor 2
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR1H2 nuclear receptor subfamily 1, group H, member 2
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR2F2 nuclear receptor subfamily 2, group F, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NR5A2 nuclear receptor subfamily 5, group A, member 2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUPR1 nuclear protein, transcriptional regulator, 1
OSR1 odd-skipped related transciption factor 1
OTX1 orthodenticle homeobox 1
OVOL1 ovo-like zinc finger 1
PABPC1L poly(A) binding protein, cytoplasmic 1-like
PAX2 paired box 2
PAX8 paired box 8
PCSK6 proprotein convertase subtilisin/kexin type 6
PCYT1B phosphate cytidylyltransferase 1, choline, beta
PDCD4 programmed cell death 4 (neoplastic transformation inhibitor)
PGD phosphogluconate dehydrogenase
PGR progesterone receptor
PHB2 prohibitin 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PLG plasminogen
PORCN porcupine homolog (Drosophila)
POSTN periostin, osteoblast specific factor
PRDM9 PR domain containing 9
PRKCE protein kinase C, epsilon
PRLR prolactin receptor
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PSEN1 presenilin 1
PSMC3IP PSMC3 interacting protein
PTEN phosphatase and tensin homolog
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH2 parathyroid hormone 2
PTP4A2 protein tyrosine phosphatase type IVA, member 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTX3 pentraxin 3, long
RAB25 RAB25, member RAS oncogene family
RAD21L1 RAD21-like 1 (S. pombe)
RAD51C RAD51 paralog C
RANBP9 RAN binding protein 9
RBMS1 RNA binding motif, single stranded interacting protein 1
REC8 REC8 meiotic recombination protein
RET ret proto-oncogene
RSPO1 R-spondin 1
RSPO2 R-spondin 2
SAFB scaffold attachment factor B
SALL4 spalt-like transcription factor 4
SELENBP1 selenium binding protein 1
SGPL1 sphingosine-1-phosphate lyase 1
SH2B1 SH2B adaptor protein 1
SIRT1 sirtuin 1
SLX4 SLX4 structure-specific endonuclease subunit
SMC1B structural maintenance of chromosomes 1B
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOD1 superoxide dismutase 1, soluble
SOX3 SRY (sex determining region Y)-box 3
SP4 Sp4 transcription factor
SPATA22 spermatogenesis associated 22
SPO11 SPO11 meiotic protein covalently bound to DSB
SRY sex determining region Y
STAR steroidogenic acute regulatory protein
STRA8 stimulated by retinoic acid 8
SUN1 Sad1 and UNC84 domain containing 1
SYCE1 synaptonemal complex central element protein 1
SYCE2 synaptonemal complex central element protein 2
SYCE3 synaptonemal complex central element protein 3
SYCP1 synaptonemal complex protein 1
TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
TBPL2 TATA box binding protein like 2
TBX3 T-box 3
TCF21 transcription factor 21
TET1 tet methylcytosine dioxygenase 1
TEX12 testis expressed 12
TGFB2 transforming growth factor, beta 2
TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TOM1L2 target of myb1-like 2 (chicken)
TP53 tumor protein p53
TP63 tumor protein p63
TP73 tumor protein p73
TRIM25 tripartite motif containing 25
TRIP13 thyroid hormone receptor interactor 13
TYROBP TYRO protein tyrosine kinase binding protein
UBB ubiquitin B
UBE3A ubiquitin protein ligase E3A
VANGL2 VANGL planar cell polarity protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VGF VGF nerve growth factor inducible
WNT4 wingless-type MMTV integration site family, member 4
WNT6 wingless-type MMTV integration site family, member 6
WNT7A wingless-type MMTV integration site family, member 7A
WNT9B wingless-type MMTV integration site family, member 9B
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
YBX2 Y box binding protein 2
ZC3HC1 zinc finger, C3HC-type containing 1
ZFX zinc finger protein, X-linked
ZGLP1 zinc finger, GATA-like protein 1
ZP1 zona pellucida glycoprotein 1 (sperm receptor)
ZP2 zona pellucida glycoprotein 2 (sperm receptor)
ZP3 zona pellucida glycoprotein 3 (sperm receptor)