COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
0.320 Biomarker disease CTD_human Oral submucous fibrosis: review on aetiology and pathogenesis. 16311067 2006
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
0.320 GeneticVariation disease BEFREE This study compared the association of OSF and polymorphisms of six collagen-related genes, collagen 1A1 and 1A2 (COL1A1 and COL1A2), collagenase-1 (COLase), transforming growth factor beta1 (TGF-beta1), lysyl oxidase (LYOXase), and cystatin C (CST3), between patients with low and high exposure to betel quids. 12101112 2002
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
0.320 Biomarker disease BEFREE The gene copy number of pro alpha 2(I) collagen gene in OSF fibroblasts was about 1.05.No gene amplification was found. 8530741 1995