abnormal retinal vasculature morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly of the structure or arrangement of blood vessels supplying the retina (Mammalian Phenotype Ontology, MP_0002792)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002792
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ADAM15 ADAM metallopeptidase domain 15
ANGPT2 angiopoietin 2
ANGPTL4 angiopoietin-like 4
ANKRD11 ankyrin repeat domain 11
ANPEP alanyl (membrane) aminopeptidase
APOE apolipoprotein E
ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15
ATOH7 atonal homolog 7 (Drosophila)
BBS4 Bardet-Biedl syndrome 4
BCL2 B-cell CLL/lymphoma 2
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
CBS cystathionine-beta-synthase
CCDC88A coiled-coil domain containing 88A
CD320 CD320 molecule
CDH13 cadherin 13
CISD2 CDGSH iron sulfur domain 2
CLIC4 chloride intracellular channel 4
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
CRX cone-rod homeobox
DCBLD2 discoidin, CUB and LCCL domain containing 2
DDIT4 DNA-damage-inducible transcript 4
DLL4 delta-like 4 (Drosophila)
DOT1L DOT1-like histone H3K79 methyltransferase
EGFL7 EGF-like-domain, multiple 7
F3 coagulation factor III (thromboplastin, tissue factor)
FGF10 fibroblast growth factor 10
FZD4 frizzled class receptor 4
GDF2 growth differentiation factor 2
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GSR glutathione reductase
H2AFX H2A histone family, member X
ICAM1 intercellular adhesion molecule 1
IL18 interleukin 18
INS insulin
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KLHL20 kelch-like family member 20
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
LEF1 lymphoid enhancer-binding factor 1
LEP leptin
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIF leukemia inhibitory factor
LIMK2 LIM domain kinase 2
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRP5 low density lipoprotein receptor-related protein 5
MERTK MER proto-oncogene, tyrosine kinase
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
NDP Norrie disease (pseudoglioma)
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOSTRIN nitric oxide synthase trafficking
NPHP4 nephronophthisis 4
NR2E1 nuclear receptor subfamily 2, group E, member 1
NRARP NOTCH-regulated ankyrin repeat protein
NRP1 neuropilin 1
NTN4 netrin 4
OPTC opticin
PAX2 paired box 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PER2 period circadian clock 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PPARG peroxisome proliferator-activated receptor gamma
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RHO rhodopsin
RHOB ras homolog family member B
RHOJ ras homolog family member J
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPL24 ribosomal protein L24
RRAS2 related RAS viral (r-ras) oncogene homolog 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SFRP2 secreted frizzled-related protein 2
SIRT1 sirtuin 1
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLX4 SLX4 structure-specific endonuclease subunit
TGFA transforming growth factor, alpha
TP53 tumor protein p53
TSPAN12 tetraspanin 12
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
VEGFA vascular endothelial growth factor A
VLDLR very low density lipoprotein receptor