Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.140 CausalMutation CLINVAR

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709

2013
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487

2012
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008

2011
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455

2009
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 19716701

2009
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR Desmin myopathy. 14724127

2004
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 12620971

2003
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.130 GeneticVariation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539

2000
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 GeneticVariation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565

2007
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. 17355552

2007
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. 10220866

1999
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 10382909

1999
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Mutation analysis in Emery-Dreifuss muscular dystrophy. 10428430

1999
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 GeneticVariation CLINVAR Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 8595407

1995
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 8595407

1995
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. 8595406

1995
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. 1998333

1991
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. 7294729

1981
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 CausalMutation CLINVAR Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. 1178008

1975
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Structure of the F-actin-tropomyosin complex. 25470062

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009