Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation BEFREE The mutation in the MIP gene is the genetic cause of the congenital cataract in the ethnic Guangxi Zhuang family. 30214549

2018
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation BEFREE A novel MIP mutation in a Chinese family with congenital cataract. 29947569

2018
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation BEFREE Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing. 28059152

2017
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation 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
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation BEFREE A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family. 24405844

2014
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation BEFREE This is the first report to show that donor splice-site mutation in MIP genes can cause autosomal dominant congenital cataract. 24319327

2013
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation BEFREE We previously identified a missense mutation (p.R233K) in the putative CaM binding domain of AQP0 C-terminus in a congenital cataract family. 22662182

2012
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 AlteredExpression BEFREE Expression of AQP0 did not prevent the congenital cataract but improved the size and transparency of the lens. 16515771

2006
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker BEFREE To our knowledge, these studies represent the first in vitro demonstration of functionally defective AQP0 protein from humans with congenital cataracts. 11001937

2000