vacuolated lens Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light (Mammalian Phenotype Ontology, MP_0011697)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011697
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Genes

16 gene mutations causing the vacuolated lens phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
BCAR3 breast cancer anti-estrogen resistance 3
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
CRYAA crystallin, alpha A
CRYGA crystallin, gamma A
CRYGD crystallin, gamma D
FOXE3 forkhead box E3
GJA8 gap junction protein, alpha 8, 50kDa
GPR161 G protein-coupled receptor 161
LIM2 lens intrinsic membrane protein 2, 19kDa
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
SEP15 15 kDa selenoprotein