Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 Biomarker CLINGEN Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing. 26573135

2015
Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 Biomarker CLINGEN Structural analysis of obscurin gene in hypertrophic cardiomyopathy. 17716621

2007
Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 Biomarker CLINGEN Essential role of obscurin in cardiac myofibrillogenesis and hypertrophic response: evidence from small interfering RNA-mediated gene silencing. 16205939

2006
Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 Biomarker CLINGEN Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. 11448995

2001