TSSK1B, testis specific serine kinase 1B, 83942

N. diseases: 14; N. variants: 0
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 		0.050 Biomarker disease BEFREE Only selected features of SSc-related cardiomyopathy were observed in the mice with chronic GVHD and TSK-1 mice. 25371068 2015
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.050 Biomarker disease BEFREE The best characterized scleroderma animal model is the type 1 tight skin mouse (Tsk1). 15246024 2004
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.050 GeneticVariation disease BEFREE Immunolocalization confirmed increased expression of MCP-3 in the dermis of 4 of 5 Tsk1 skin samples and 14 of 28 lesional SSc skin samples, compared with that in matched healthy mice (n = 5) and human controls (n = 11). 12847692 2003
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.050 Biomarker disease BEFREE The TSK1 mouse model of SSc bears an in-frame duplication of the Fibrillin-1 gene (FBN1) which results in a larger than normal protein that is more susceptible to proteolysis. 12384286 2002
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.050 Biomarker disease BEFREE A multilocus 2-cM haplotype was identified on human chromosome 15q homologous to the murine tsk1 region, which showed a significantly increased frequency in SSc cases compared with controls. 9778214 1998