MMRN1, multimerin 1, 22915

N. diseases: 272; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.070 Biomarker disease BEFREE Myofibroblasts contribute to fibrosis through the overproduction of extracellular matrix (ECM) proteins, primarily type I collagen (COL-1) and fibronectin (FN), a process which is mediated in systemic sclerosis (SSc) by the activation of fibrogenic intracellular signaling transduction molecules, including extracellular signal-regulated kinases 1 and 2 (Erk1/2) and protein kinase B (Akt). 29720235 2018
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.070 AlteredExpression disease BEFREE Our comprehensive analyses of mRNA, miRNA, and matrisome proteomic profiles in IPF and SSc lung fibroblasts revealed robust fibrotic signatures at both the gene and protein expression levels and identified novel fibrogenesis-associated miRNAs whose aberrant downregulation in disease fibroblasts likely contributes to their fibrotic and ECM gene expression. 30501089 2018
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.070 GeneticVariation disease BEFREE This study was undertaken to investigate the associations between SSc-associated genetic variants and the expression of extracellular matrix (ECM) genes in human fibroblasts stimulated with silica particles in time-course and dose-response experiments. 26474180 2016
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.070 Biomarker disease BEFREE The major pathological hallmark of the systemic sclerosis (SSc) is skin and internal organ fibrosis, which results from normal tissue architecture alterations and extracellular matrix (ECM) protein deposition. 28002595 2016
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.070 AlteredExpression disease BEFREE Whereas, Yiqihuoxue treatment could obviously attenuate fibrosis in bleomycin-induced mice, down regulate ECM gene expressions and collagen production in SSc dermal fibroblasts and TGF-β1-induced NIH/3T3 fibroblasts. 24998426 2014
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.070 Biomarker disease BEFREE Systemic sclerosis (SSc) is an autoimmune connective tissue disease characterised by skin and internal organs fibrosis due to accumulation of extra cellular matrix (ECM) proteins. 25549087 2014
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.070 AlteredExpression disease BEFREE The expression of extracellular matrix (ECM) proteins in SSc and normal dermal fibroblasts was analyzed by real-time polymerase chain reaction, Western blot, and Sircol collagen assay. 17195235 2007