Source: ALL
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: 1421
Gene Symbol: CRYGD
CRYGD
0.700 Biomarker disease BEFREE γD-Crystallin (HγDC) is a key structural protein in the human lens, whose aggregation has been associated with the development of cataracts. 31199646 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: 1421
Gene Symbol: CRYGD
CRYGD
0.700 Biomarker disease BEFREE Human γd-crystallin (Hγd-crystallin), a major protein component of the human eye lens, is associated with the development of juvenile- and mature-onset cataracts. 29949747 2018
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
0.700 Biomarker disease CTD_human Dynamic disulfide exchange in a crystallin protein in the human eye lens promotes cataract-associated aggregation. 30242128 2018
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE A molecular dynamics approach to explore the structural characterization of cataract causing mutation R58H on human γD crystallin. 29532225 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: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753 2016
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: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract. 25403472 2014
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE We identified a C to A transversion at nucleotide position c.70 in exon 2 of CRYGD, a cataract-associated gene. 24103489 2013
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: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE Up to now, efforts to crystallize the cataract-associated P23T mutant of human γD-crystallin have not been successful. 23670788 2013
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE Some mutants of human γD-crystallin are closely linked to congenital cataracts, although the detailed molecular mechanisms of mutant-associated cataract formation are generally not known. 23124202 2013
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE Interestingly, a mutation of different codon, i.e., p.Arg58His in CRYGD has been reported to be linked with aculeiform cataract in four different families; two from Switzerland, one from Macedonia and in a Mexican family. 22669729 2012
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: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE Although a number of γD-crystallin mutations are associated with cataract formation, there is not a clear understanding of the molecular mechanism(s) that lead to this protein deposition disease. 22394327 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: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE A number of point mutations in γD-crystallin are associated with human cataract. 21827768 2011
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE Benedek, J. Pande, Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin, Biochemistry 44 (2005) 2491-2500] that the mutation dramatically lowers the solubility of P23T but the overall protein fold is maintained. 19275895 2009
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
0.700 GeneticVariation disease BEFREE Direct sequencing of the candidate CRYGA-CRYGD gene cluster revealed a c.470G>A transversion in exon 3 of CRYGC, which cosegregated with cataracts in the family and was not observed in 100 normal controls. 19204787 2009