MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: CATARACT 15, MULTIPLE TYPES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family. 25946197 2015
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. 23116563 2013
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion. 24120416 2013
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family. 21245956 2011
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. 20361015 2010
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. 17893667 2007
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family. 17960133 2007
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. 16564824 2006
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. 10802646 2000
dbSNP: rs778327521
rs778327521
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C3809001
Disease:
CATARACT 15, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. 11001937 2000