MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker disease BEFREE Loss of MIP function results in a syndrome which consists of LVNC, DD, seizures, hypotonia, and cataracts. 27799064 2016
CUI: C0086543
Disease: Cataract
Cataract 		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
CUI: C0086543
Disease: Cataract
Cataract 		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
CUI: C0086543
Disease: Cataract
Cataract 		0.700 GeneticVariation disease BEFREE Mutations in AQP0 cause severe lens cataract in both humans and mice. 24120416 2013
CUI: C0086543
Disease: Cataract
Cataract 		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
CUI: C0086543
Disease: Cataract
Cataract 		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
CUI: C0086543
Disease: Cataract
Cataract 		0.700 GeneticVariation disease BEFREE Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract. 18501347 2008
CUI: C0086543
Disease: Cataract
Cataract 		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
CUI: C0086543
Disease: Cataract
Cataract 		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
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker disease CTD_human Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. 10802646 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.700 GeneticVariation disease BEFREE Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. 10802646 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker disease HPO
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation disease ORPHANET Molecular genetics of congenital nuclear cataract. 24384146 2014
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 GermlineCausalMutation disease ORPHANET Molecular genetics of congenital nuclear cataract. 24384146 2014
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation disease ORPHANET A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family. 21245956 2011
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation disease ORPHANET A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. 21647270 2011
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 GermlineCausalMutation disease ORPHANET A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. 21647270 2011
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 GermlineCausalMutation disease ORPHANET A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family. 21245956 2011
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 Biomarker disease HPO
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 Biomarker disease HPO
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE The mutation in the MIP gene is the genetic cause of the congenital cataract in the ethnic Guangxi Zhuang family. 30214549 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE A novel MIP mutation in a Chinese family with congenital cataract. 29947569 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing. 28059152 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016