Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		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
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 Biomarker group GENOMICS_ENGLAND Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. 28716623 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 GeneticVariation group BEFREE Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. 28716623 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 GeneticVariation group BEFREE In this study, we describe a distinct phenotype for patients with distal myopathy associated with novel recessive TTN variants including a Serbian founder variant. 28295036 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		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
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.570 Biomarker group BEFREE Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		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
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.570 GeneticVariation group BEFREE Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. 21211974 2011
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 GeneticVariation group LHGDN Samples from 25 new families and 25 sporadic new distal myopathy cases were screened for titin mutations. 18948003 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		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
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 GeneticVariation group BEFREE Of these, only titin mutations were previously known to cause dominant late-onset distal myopathy. 17337483 2007
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 GeneticVariation group BEFREE Mutations in titin are well known cause of late onset autosomal dominant distal myopathy. 16793270 2006
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 GeneticVariation group BEFREE Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 15728284 2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		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
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		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
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		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
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 GeneticVariation group LHGDN Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747 2002
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.570 Biomarker group CTD_human Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747 2002
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.570 Biomarker group CTD_human
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.420 GeneticVariation group CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.420 Biomarker group BEFREE Mutations in the small heat shock protein B8 gene (HSPB8/HSP22) have been associated with distal hereditary motor neuropathy, Charcot-Marie-Tooth disease, and recently distal myopathy. 28780615 2018
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.420 GeneticVariation group CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.420 GeneticVariation group BEFREE Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26718575 2016
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.420 Biomarker group GENOMICS_ENGLAND Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26718575 2016
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.420 GeneticVariation group CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520 2016