total cataracts Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital (Mammalian Phenotype Ontology, MP_0010263)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010263
Similar Terms
Downloads & Tools

Genes

12 gene mutations causing the total cataracts phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
CRYBA1 crystallin, beta A1
CRYBA2 crystallin, beta A2
CRYBB2 crystallin, beta B2
CRYGA crystallin, gamma A
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
GJA8 gap junction protein, alpha 8, 50kDa
LIM2 lens intrinsic membrane protein 2, 19kDa
MIP major intrinsic protein of lens fiber
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)