Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | disease | BEFREE | Six missense mutations in human cardiac troponin I (cTnI) were recently found to cause restrictive cardiomyopathy (RCM). | 16288990 | 2005 | ||||
|
0.700 | GeneticVariation | disease | LHGDN | Six missense mutations in human cardiac troponin I (cTnI) were recently found to cause restrictive cardiomyopathy (RCM). | 16288990 | 2005 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | The inability of the five cTnI mutations investigated to fully inhibit ATPase activity/force development and the generally larger increases in Ca2+ sensitivity than observed for most hypertrophic cardiomyopathy mutations would likely lead to severe diastolic dysfunction and may be the major physiological factors responsible for causing the restrictive cardiomyopathy phenotype in some of the genetically affected individuals. | 15961398 | 2005 | ||||
|
0.700 | Biomarker | disease | BEFREE | In this review, cardiac troponin I, one of the sarcomeric thin filament protein, will be discussed regarding its role in cardiac function, its deficiency-related diastolic dysfunction, and the mutation of this protein-mediated restrictive cardiomyopathy. | 15569399 | 2004 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. | 12531876 | 2003 | ||||
|
0.700 | AlteredExpression | disease | BEFREE | Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. | 12531876 | 2003 | ||||
|
0.700 | Biomarker | disease | CTD_human | Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. | 12531876 | 2003 | ||||
|
0.700 | Biomarker | disease | HPO | |||||||
|
0.700 | Biomarker | disease | MGD |