| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.190 | GeneticVariation | group | BEFREE | Mutations in the four and-a-half LIM domain protein 1 (FHL1) gene or FHL1 protein deletion have been identified as the cause of rare hereditary myopathies or cardiomyopathies. | 31836140 | 2020 | ||||
|
0.190 | Biomarker | group | BEFREE | Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice. | 30260394 | 2019 | ||||
|
0.190 | Biomarker | group | BEFREE | These results indicated that autophagy activated by FOXO1 is a promising therapeutic target for hereditary myopathies and cardiomyopathies induced by FHL1. | 30083183 | 2018 | ||||
|
0.190 | GeneticVariation | group | BEFREE | Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1. | 26857240 | 2016 | ||||
|
0.190 | GeneticVariation | group | BEFREE | Mutation screening of the FHL1 gene should be considered for patients with uncharacterized myopathies and cardiomyopathies. | 26933038 | 2016 | ||||
|
0.190 | AlteredExpression | group | BEFREE | HCM-induced altered transcriptional regulation of Fhl1 resulted in robust myocyte expression of a distinct protein isoform, a response that was conserved in humans with genetic or acquired cardiomyopathies. | 24509080 | 2014 | ||||
|
0.190 | Biomarker | group | BEFREE | We hypothesized that FHL1, encoding four-and-a-half-LIM domains 1, could be another disease gene since it has been shown to cause distinct myopathies, sometimes associated with cardiomyopathy. | 22523091 | 2012 | ||||
|
0.190 | Biomarker | group | BEFREE | Because SLIM1 is strongly implicated in the pathogenesis of myopathies and cardiomyopathies, we generated transgenic (TG) mice with cardiac-specific overexpression of human USP15. | 21219870 | 2011 | ||||
|
0.190 | Biomarker | group | BEFREE | Mutation screening of FHL1 should be considered for patients with uncharacterized myopathies and cardiomyopathies. | 18179888 | 2008 | ||||
|
0.190 | Biomarker | group | HPO |