abnormal vitreous body morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina (Mammalian Phenotype Ontology, MP_0002699)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002699
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55 gene mutations causing the abnormal vitreous body morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AIRE autoimmune regulator
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ANGPT2 angiopoietin 2
APAF1 apoptotic peptidase activating factor 1
ASXL1 additional sex combs like transcriptional regulator 1
BMP4 bone morphogenetic protein 4
CBS cystathionine-beta-synthase
CDKN2A cyclin-dependent kinase inhibitor 2A
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CLSTN1 calsyntenin 1
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
CSRP2BP CSRP2 binding protein
EHD1 EH-domain containing 1
FGF10 fibroblast growth factor 10
FKRP fukutin related protein
FZD4 frizzled class receptor 4
GAS1 growth arrest-specific 1
GNPAT glyceronephosphate O-acyltransferase
GSK3A glycogen synthase kinase 3 alpha
ITGA6 integrin, alpha 6
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
LEF1 lymphoid enhancer-binding factor 1
LIM2 lens intrinsic membrane protein 2, 19kDa
LRP5 low density lipoprotein receptor-related protein 5
MITF microphthalmia-associated transcription factor
MSX2 msh homeobox 2
MYO10 myosin X
MYO7A myosin VIIA
NDP Norrie disease (pseudoglioma)
NOS2 nitric oxide synthase 2, inducible
NOTCH2 notch 2
NR2E1 nuclear receptor subfamily 2, group E, member 1
PAX6 paired box 6
PRKCZ protein kinase C, zeta
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL3 poliovirus receptor-related 3
PXDN peroxidasin
RARB retinoic acid receptor, beta
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPL24 ribosomal protein L24
RXRA retinoid X receptor, alpha
SIRT1 sirtuin 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPI1 Spi-1 proto-oncogene
STRA6 stimulated by retinoic acid 6
TGFB2 transforming growth factor, beta 2
TP53 tumor protein p53
TSPAN12 tetraspanin 12
VEGFA vascular endothelial growth factor A
VSX2 visual system homeobox 2
WNT7B wingless-type MMTV integration site family, member 7B