Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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 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 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 LHGDN Samples from 25 new families and 25 sporadic new distal myopathy cases were screened for titin mutations. 18948003 2008
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 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 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 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 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 Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. 21211974 2011
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 GeneticVariation group CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520 2016
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: 9782
Gene Symbol: MATR3
MATR3 		0.400 GeneticVariation group BEFREE Sixteen patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutation were characterized. 25154462 2014
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		0.400 GeneticVariation group BEFREE The MATR3 gene is mutated in a form of distal myopathy and amyotrophic lateral sclerosis (ALS). 28977530 2017
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		0.400 GeneticVariation group BEFREE To understand how mutations in Matrin 3 (MATR3) cause amyotrophic lateral sclerosis (ALS) and distal myopathy, we used transcriptome and interactome analysis, coupled with microscopy. 29511296 2018
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		0.400 GeneticVariation group BEFREE The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. 28029397 2017
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		0.400 GeneticVariation group BEFREE Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation. 25677933 2015
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		0.400 GeneticVariation group BEFREE Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy. 26528920 2015
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		0.400 GeneticVariation group BEFREE One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree. 19344878 2009
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		0.400 GeneticVariation group BEFREE Mutations in MATR3 have been associated with amyotrophic lateral sclerosis (ALS) as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM). 30563574 2018