VIM, vimentin, 7431

N. diseases: 644; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract
0.330 Biomarker disease BEFREE Vimentin is a protein that has been linked to a large variety of pathophysiological conditions, including cataracts, Crohn's disease, rheumatoid arthritis, HIV and cancer. 30248895 2018
CUI: C0086543
Disease: Cataract
Cataract
0.330 GeneticVariation disease BEFREE Dominant cataract formation in association with a vimentin assembly disrupting mutation. 19126778 2009
CUI: C0086543
Disease: Cataract
Cataract
0.330 Biomarker disease CTD_human We sequenced the complete human VIM gene in 90 individuals suffering from congenital cataract and found a G596A change in exon 1 in a single individual, causing the missense mutation E151K in coil 1B of vimentin. 19126778 2009
CUI: C0086543
Disease: Cataract
Cataract
0.330 AlteredExpression disease BEFREE We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans. 18940912 2008