DisGeNET - a database of gene-disease associations

MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.

25946197

2015

dbSNP:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.

25946197

2015

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.

23116563

2013

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

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:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

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:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.

23116563

2013

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

21245956

2011

dbSNP:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

21245956

2011

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

20361015

2010

dbSNP:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

20361015

2010

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

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:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

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:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

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:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

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:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

16564824

2006

dbSNP:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

16564824

2006

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

11001937

2000

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

10802646

2000

dbSNP:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

10802646

2000

dbSNP:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

11001937

2000

dbSNP:

rs121917867

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

CausalMutation

CLINVAR

dbSNP:

rs121917869

Entrez Id:	4284
Gene Symbol:	MIP

MIP

CUI:	C3809001
Disease:

CATARACT 15, MULTIPLE TYPES

0.800

CausalMutation

CLINVAR

dbSNP:

rs7302925

Entrez Id:	4284;283377
Gene Symbol:	MIP;SPRYD4

MIP;SPRYD4

CUI:	C0302274
Disease:

Glutamine measurement

0.700

GeneticVariation

GWASCAT

Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

30659259

2019

dbSNP:

rs7302925

Entrez Id:	4284;283377
Gene Symbol:	MIP;SPRYD4

MIP;SPRYD4

CUI:	C0201874
Disease:

Amino acids measurement

0.700

GeneticVariation

GWASCAT

Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

30659259

2019

dbSNP:

rs73114872

Entrez Id:	4284;283377
Gene Symbol:	MIP;SPRYD4

MIP;SPRYD4

CUI:	C0005845
Disease:

Blood urea nitrogen measurement

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019