abnormal visceral yolk sac morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells (Mammalian Phenotype Ontology, MP_0001718)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001718
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Genes

180 gene mutations causing the abnormal visceral yolk sac morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ADAM10 ADAM metallopeptidase domain 10
ADAR adenosine deaminase, RNA-specific
ADM adrenomedullin
AGO2 argonaute RISC catalytic component 2
ANGPTL6 angiopoietin-like 6
ANKRD17 ankyrin repeat domain 17
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APH1A APH1A gamma secretase subunit
APOB apolipoprotein B
ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
ARID1A AT rich interactive domain 1A (SWI-like)
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ARNT aryl hydrocarbon receptor nuclear translocator
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BMP4 bone morphogenetic protein 4
BRCA2 breast cancer 2, early onset
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CCM2 cerebral cavernous malformation 2
CCNF cyclin F
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDH5 cadherin 5, type 2 (vascular endothelium)
CHM choroideremia (Rab escort protein 1)
COL5A1 collagen, type V, alpha 1
CRB2 crumbs family member 2
CREBBP CREB binding protein
CSK c-src tyrosine kinase
CUBN cubilin (intrinsic factor-cobalamin receptor)
CUL4B cullin 4B
DICER1 dicer 1, ribonuclease type III
DLC1 DLC1 Rho GTPase activating protein
DLL4 delta-like 4 (Drosophila)
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
EFNB2 ephrin-B2
EGLN1 egl-9 family hypoxia-inducible factor 1
ELAVL1 ELAV like RNA binding protein 1
ENG endoglin
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EPB41L5 erythrocyte membrane protein band 4.1 like 5
EPHB4 EPH receptor B4
EPOR erythropoietin receptor
ERF Ets2 repressor factor
ETV2 ets variant 2
ETV6 ets variant 6
EXOC4 exocyst complex component 4
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGFR1 fibroblast growth factor receptor 1
FGG fibrinogen gamma chain
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLT1 fms-related tyrosine kinase 1
FLT4 fms-related tyrosine kinase 4
FN1 fibronectin 1
FOSL1 FOS-like antigen 1
FOXF1 forkhead box F1
FOXO1 forkhead box O1
FURIN furin (paired basic amino acid cleaving enzyme)
FZD5 frizzled class receptor 5
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GLMN glomulin, FKBP associated protein
GNA13 guanine nucleotide binding protein (G protein), alpha 13
GTF2IRD1 GTF2I repeat domain containing 1
HAND1 heart and neural crest derivatives expressed 1
HAS2 hyaluronan synthase 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HNF4A hepatocyte nuclear factor 4, alpha
HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HUS1 HUS1 checkpoint homolog (S. pombe)
IHH indian hedgehog
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ITGB8 integrin, beta 8
JAG1 jagged 1
KAT7 K(lysine) acetyltransferase 7
KDM6A lysine (K)-specific demethylase 6A
KDM8 lysine (K)-specific demethylase 8
KDR kinase insert domain receptor
KLF2 Kruppel-like factor 2
KLF6 Kruppel-like factor 6
KRIT1 KRIT1, ankyrin repeat containing
LAMC1 laminin, gamma 1 (formerly LAMB2)
LDB1 LIM domain binding 1
LEFTY2 left-right determination factor 2
LEMD3 LEM domain containing 3
LMO2 LIM domain only 2 (rhombotin-like 1)
MAP2K1 mitogen-activated protein kinase kinase 1
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MECOM MDS1 and EVI1 complex locus
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKL2 MKL/myocardin-like 2
MTTP microsomal triglyceride transfer protein
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH9 myosin, heavy chain 9, non-muscle
MYL7 myosin, light chain 7, regulatory
MYOCD myocardin
NCSTN nicastrin
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRP1 neuropilin 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLCG1 phospholipase C, gamma 1
PNPLA6 patatin-like phospholipase domain containing 6
POGLUT1 protein O-glucosyltransferase 1
PPAP2B phosphatidic acid phosphatase type 2B
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
QKI QKI, KH domain containing, RNA binding
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RASIP1 Ras interacting protein 1
RB1 retinoblastoma 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECK reversion-inducing-cysteine-rich protein with kazal motifs
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RNF7 ring finger protein 7
RSPO3 R-spondin 3
RUNX1 runt-related transcription factor 1
S1PR1 sphingosine-1-phosphate receptor 1
SEC24B SEC24 family member B
SETD2 SET domain containing 2
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD5 SMAD family member 5
SOS1 son of sevenless homolog 1 (Drosophila)
SOX7 SRY (sex determining region Y)-box 7
STK11 serine/threonine kinase 11
TAL1 T-cell acute lymphocytic leukemia 1
TBX20 T-box 20
TBX3 T-box 3
TDGF1 teratocarcinoma-derived growth factor 1
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TEK TEK tyrosine kinase, endothelial
TFDP1 transcription factor Dp-1
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM100 transmembrane protein 100
TMOD1 tropomodulin 1
TNRC6A trinucleotide repeat containing 6A
TSIX TSIX transcript, XIST antisense RNA
TTN titin
TXNRD1 thioredoxin reductase 1
UBP1 upstream binding protein 1 (LBP-1a)
UBR4 ubiquitin protein ligase E3 component n-recognin 4
UBR5 ubiquitin protein ligase E3 component n-recognin 5
VEGFA vascular endothelial growth factor A
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
WNT3 wingless-type MMTV integration site family, member 3
YAP1 Yes-associated protein 1
ZFAT zinc finger and AT hook domain containing
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM1 zinc finger protein, FOG family member 1
ZMIZ1 zinc finger, MIZ-type containing 1