abnormal vitelline vasculature morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the vascular network that supplies the yolk sac (Mammalian Phenotype Ontology, MP_0003229)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003229
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Genes

167 gene mutations causing the abnormal vitelline vasculature morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI1 abl-interactor 1
ACVRL1 activin A receptor type II-like 1
ADAM10 ADAM metallopeptidase domain 10
ADM adrenomedullin
AIP aryl hydrocarbon receptor interacting protein
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AMOT angiomotin
ANGPT1 angiopoietin 1
ANGPTL6 angiopoietin-like 6
APH1A APH1A gamma secretase subunit
ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
ARNT aryl hydrocarbon receptor nuclear translocator
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAPNS1 calpain, small subunit 1
CASP8 caspase 8, apoptosis-related cysteine peptidase
CCM2 cerebral cavernous malformation 2
CCNF cyclin F
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDH5 cadherin 5, type 2 (vascular endothelium)
CHM choroideremia (Rab escort protein 1)
CRB2 crumbs family member 2
CREBBP CREB binding protein
CSK c-src tyrosine kinase
CTBP2 C-terminal binding protein 2
CUBN cubilin (intrinsic factor-cobalamin receptor)
DICER1 dicer 1, ribonuclease type III
DLC1 DLC1 Rho GTPase activating protein
DLL4 delta-like 4 (Drosophila)
DOT1L DOT1-like histone H3K79 methyltransferase
EFNB2 ephrin-B2
ENG endoglin
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPHB4 EPH receptor B4
ERF Ets2 repressor factor
ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2
ETV2 ets variant 2
ETV6 ets variant 6
F2 coagulation factor II (thrombin)
F2R coagulation factor II (thrombin) receptor
F3 coagulation factor III (thromboplastin, tissue factor)
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGFRL1 fibroblast growth factor receptor-like 1
FHOD3 formin homology 2 domain containing 3
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
GATAD2A GATA zinc finger domain containing 2A
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)
HIRA histone cell cycle regulator
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
ILK integrin-linked kinase
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGAV integrin, alpha V
ITGB8 integrin, beta 8
JAG1 jagged 1
KAT2A K(lysine) acetyltransferase 2A
KAT7 K(lysine) acetyltransferase 7
KDM8 lysine (K)-specific demethylase 8
KDR kinase insert domain receptor
KLF6 Kruppel-like factor 6
LEFTY2 left-right determination factor 2
LEMD3 LEM domain containing 3
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
MEF2C myocyte enhancer factor 2C
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKL2 MKL/myocardin-like 2
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae)
MPI mannose phosphate isomerase
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
NCOA6 nuclear receptor coactivator 6
NCSTN nicastrin
NKX2-5 NK2 homeobox 5
NOTCH1 notch 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRP1 neuropilin 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUMB numb homolog (Drosophila)
OSR1 odd-skipped related transciption factor 1
OVOL2 ovo-like zinc finger 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PALB2 partner and localizer of BRCA2
PAM peptidylglycine alpha-amidating monooxygenase
PARVA parvin, alpha
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POFUT1 protein O-fucosyltransferase 1
POGLUT1 protein O-glucosyltransferase 1
PPAP2B phosphatidic acid phosphatase type 2B
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha
PRDM6 PR domain containing 6
PROS1 protein S (alpha)
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
QKI QKI, KH domain containing, RNA binding
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RASIP1 Ras interacting protein 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
RPL38 ribosomal protein L38
RUNX1 runt-related transcription factor 1
SENP1 SUMO1/sentrin specific peptidase 1
SETD2 SET domain containing 2
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
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
SMO smoothened, frizzled class receptor
SOX7 SRY (sex determining region Y)-box 7
SPTBN1 spectrin, beta, non-erythrocytic 1
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
TEK TEK tyrosine kinase, endothelial
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
TTN titin
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
YAP1 Yes-associated protein 1
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM1 zinc finger protein, FOG family member 1
ZMIZ1 zinc finger, MIZ-type containing 1
ZNF148 zinc finger protein 148