Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 Biomarker disease BEFREE AQP0ΔC/ΔC lenses were transparent throughout the embryonic development and until postnatal day 15 (P15) in contrast to age-matched AQP0-/- lenses, which developed cataract at embryonic stage itself. 30821811 2019
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 Biomarker disease BEFREE Quantification of the level of an AQP0/AQP0 crosslinked peptide showed increased crosslinking with age and in cataract lenses. 31794011 2019
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts. 30214549 2018
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE Overall, the Mip<sup>Nat</sup> mice offer a novel model to better understand the phenotypes and mechanisms for the development of cataracts in patients that carry missense mutations in MIP. 28442635 2017
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE We screened 60 known genes which are involved in inherited cataract in a pregnant woman with a four-generation family history of autosomal dominant congenital nuclear cataract through next-generation sequencing (NGS) and identified a heterozygous mutation, c.508dupC (p.L170fs), in the major intrinsic protein (MIP) gene. 27456987 2016
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 Biomarker disease BEFREE Loss of MIP function results in a syndrome which consists of LVNC, DD, seizures, hypotonia, and cataracts. 27799064 2016
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE The novel nonsense mutation in the MIP gene (c.657 C>G) identified in a Chinese family may cause posterior polar cataracts. 25803033 2015
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE In summary, our study presented genetic and functional evidence linking the new MIP mutation of G215D to autosomal dominant congenital cataracts, which adds to the list of MIP mutations linked to congenital progressive punctate cataracts. 25033405 2014
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE Mutations in AQP0 cause severe lens cataract in both humans and mice. 24120416 2013
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE This study was aimed at exploring the potential pathogenesis of this mutation causative of cataract and mainly identifying how it influenced the binding of AQP0 to CaM. 22662182 2012
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE Sequence analysis of the major intrinsic protein of lens fiber gene (MIP), a gene known to cause other types of cataract in the linkage interval, detected a novel heterozygous initiation codon mutation, c.2T>C (p.Met1?). 21850180 2011
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract. 18501347 2008
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE Moreover, these observations predict that less severe defects in the AQP0 protein may contribute to lens opacity in patients with common, less fulminant forms of cataracts. 11001937 2000
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE Furthermore, this is the first clear evidence of allelic heterogeneity in this condition following the identification of a family with lamellar cataracts who have a different mutation within the MIP gene. 11090476 2000
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 Biomarker disease CTD_human Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. 10802646 2000
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 GeneticVariation disease BEFREE Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. 10802646 2000
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4284
Gene Symbol: MIP
MIP
0.700 Biomarker disease HPO