MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: Congenital cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555179699
rs1555179699
Entrez Id: 4284;8914
Gene Symbol: MIP;TIMELESS
MIP;TIMELESS
CUI: C0009691
Disease:
Congenital cataract 		0.010 GeneticVariation BEFREE We previously identified a missense mutation (p.R233K) in the putative CaM binding domain of AQP0 C-terminus in a congenital cataract family. 22662182 2012