COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Systemic Scleroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.210 Biomarker disease MGD The Tsk2/+ mouse fibrotic phenotype is due to a gain-of-function mutation in the PIIINP segment of the Col3a1 gene. 25330296 2015
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.210 Biomarker disease MGD The tight skin 2 mouse. An animal model of scleroderma displaying cutaneous fibrosis and mononuclear cell infiltration. 8849351 1995
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.210 AlteredExpression disease BEFREE Procollagen gene expression by scleroderma fibroblasts in culture. Inhibition of collagen production and reduction of pro alpha 1(I) and pro alpha 1(III) collagen messenger RNA steady-state levels by retinoids. 3580008 1987