| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | GeneticVariation | group | BEFREE | We identified a novel nonsense variant in DSG2 (c.710T > A, p.Leu237Ter) and a reported pathogenic missense variant of distal myopathy in MYH7 (c. 1322C > T, p.Thr441Met) in the proband of an ARVC pedigree. | 31653443 | 2020 | ||||
|
0.570 | GeneticVariation | group | BEFREE | Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. | 27005958 | 2016 | ||||
|
0.570 | Biomarker | group | BEFREE | Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. | 24664454 | 2014 | ||||
|
0.570 | Biomarker | group | BEFREE | We suggest that MYH7 screening should be considered in undiagnosed late-onset distal myopathy or cytoplasmic body myopathy patients. | 22521714 | 2012 | ||||
|
0.570 | GeneticVariation | group | BEFREE | Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. | 21211974 | 2011 | ||||
|
0.570 | GeneticVariation | group | BEFREE | Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16). | 17383184 | 2007 | ||||
|
0.570 | Biomarker | group | GENOMICS_ENGLAND | These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. | 15322983 | 2004 | ||||
|
0.570 | GeneticVariation | group | LHGDN | These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. | 15322983 | 2004 | ||||
|
0.570 | GeneticVariation | group | BEFREE | These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. | 15322983 | 2004 | ||||
|
0.570 | Biomarker | group | CTD_human |