COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.040 Biomarker disease BEFREE Attempts to elucidate whether interactions between Sp1/Sp3/c-Krox and p65 are necessary to mediate the NF-κB inhibitory effect on COL1A1 in ANF and SF were carried out; in this regard, immunoprecipitation assays revealed that they interact, and this was validated by re-ChIP. 22139845 2012
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.040 AlteredExpression disease BEFREE Here, we demonstrate for the first time that CS and CSf exert an inhibitory effect on type I collagen protein synthesis and decrease the corresponding mRNA steady-state levels of COL1A1 and COL1A2 in NF and SF. 18298657 2008
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.040 AlteredExpression disease BEFREE We have investigated the role of hc-Krox transcription factor on type I collagen expression by human dermal fibroblasts. hc-Krox exerted a stimulating effect on type I collagen protein synthesis and enhanced the corresponding mRNA steady-state levels of COL1A1 and COL1A2 in foreskin fibroblasts (FF), adult normal fibroblasts (ANF), and scleroderma fibroblasts (SF). 17698844 2007
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.040 AlteredExpression disease BEFREE B-Myb acts as a repressor of human COL1A1 collagen gene expression by interacting with Sp1 and CBF factors in scleroderma fibroblasts. 14613485 2004