MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: Cataract, congenital, cerulean type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		0.310 GeneticVariation disease BEFREE This study adds a new member in the existing list of genes causing cerulean cataract and expands the mutation spectrum and phenotypic association of MIP mutations. 21850180 2011
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		0.310 GermlineCausalMutation disease ORPHANET This study adds a new member in the existing list of genes causing cerulean cataract and expands the mutation spectrum and phenotypic association of MIP mutations. 21850180 2011