Disease: Cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.030 GeneticVariation disease BEFREE Here we have characterized the lens phenotypes of mutant (knock-in) mice harboring a human cataract-associated mutation (p.D129V) in CHMP4B (Chmp4b-mutant) and conditional knockdown mice deficient in lens CHMP4B (Chmp4b-CKD). 31404815 2020
CUI: C0086543
Disease: Cataract
Cataract 		0.030 Biomarker disease BEFREE Association of CHMP4B and autophagy with micronuclei: implications for cataract formation. 24741567 2014
CUI: C0086543
Disease: Cataract
Cataract 		0.030 GeneticVariation disease BEFREE In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K). 17701905 2007