abnormal uterus morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth (Mammalian Phenotype Ontology, MP_0001120)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001120
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Genes

138 gene mutations causing the abnormal uterus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
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
AFP alpha-fetoprotein
AHR aryl hydrocarbon receptor
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
ARID5B AT rich interactive domain 5B (MRF1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATM ATM serine/threonine kinase
BAX BCL2-associated X protein
BMPR1B bone morphogenetic protein receptor, type IB
BRCA1 breast cancer 1, early onset
CABLES1 Cdk5 and Abl enzyme substrate 1
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CALCRL calcitonin receptor-like
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CD44 CD44 molecule (Indian blood group)
CDK2 cyclin-dependent kinase 2
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
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
COL1A1 collagen, type I, alpha 1
COMT catechol-O-methyltransferase
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
DFNB31 deafness, autosomal recessive 31
DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58
DLG1 discs, large homolog 1 (Drosophila)
DRD2 dopamine receptor D2
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
FANCC Fanconi anemia, complementation group C
FANCL Fanconi anemia, complementation group L
FBN1 fibrillin 1
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FZD1 frizzled class receptor 1
GHR growth hormone receptor
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GPC3 glypican 3
HCST hematopoietic cell signal transducer
HMGA2 high mobility group AT-hook 2
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA13 homeobox A13
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
ITGB7 integrin, beta 7
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KL klotho
KPNA1 karyopherin alpha 1 (importin alpha 5)
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMC1 laminin, gamma 1 (formerly LAMB2)
LBR lamin B receptor
LEPR leptin receptor
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
LHX3 LIM homeobox 3
LHX9 LIM homeobox 9
LIF leukemia inhibitory factor
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
MARK2 MAP/microtubule affinity-regulating kinase 2
MCM8 minichromosome maintenance complex component 8
MEOX2 mesenchyme homeobox 2
NHLH2 nescient helix loop helix 2
NOS2 nitric oxide synthase 2, inducible
NPC1 Niemann-Pick disease, type C1
NPR2 natriuretic peptide receptor 2
NR1H2 nuclear receptor subfamily 1, group H, member 2
NR2F2 nuclear receptor subfamily 2, group F, member 2
NR5A2 nuclear receptor subfamily 5, group A, member 2
OVOL1 ovo-like zinc finger 1
PAX2 paired box 2
PAX8 paired box 8
PGR progesterone receptor
PHB2 prohibitin 2
PORCN porcupine homolog (Drosophila)
POSTN periostin, osteoblast specific factor
PRKCE protein kinase C, epsilon
PROKR2 prokineticin receptor 2
PTEN phosphatase and tensin homolog
PTP4A2 protein tyrosine phosphatase type IVA, member 2
RBMS1 RNA binding motif, single stranded interacting protein 1
SGPL1 sphingosine-1-phosphate lyase 1
SH2B1 SH2B adaptor protein 1
SIRT1 sirtuin 1
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SP4 Sp4 transcription factor
SPO11 SPO11 meiotic protein covalently bound to DSB
STAR steroidogenic acute regulatory protein
TGFB2 transforming growth factor, beta 2
TIMP1 TIMP metallopeptidase inhibitor 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TP63 tumor protein p63
TRIM25 tripartite motif containing 25
TYROBP TYRO protein tyrosine kinase binding protein
UBE3A ubiquitin protein ligase E3A
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VGF VGF nerve growth factor inducible
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
WWOX WW domain containing oxidoreductase