Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. 28349680

2017
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Mitochondrial dysfunction in myofibrillar myopathy. 27618136

2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR A rare mutation in MYH7 gene occurs with overlapping phenotype. 25576864

2015
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. 24668811

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. 24647531

2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Myosinopathies: pathology and mechanisms. 22918376

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients. 21395566

2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. 20733148

2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. 19377068

2009
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Distinct muscle imaging patterns in myofibrillar myopathies. 18765652

2008
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Zaspopathy in a large classic late-onset distal myopathy family. 17337483

2007
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Mutations in ZASP define a novel form of muscular dystrophy in humans. 15668942

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 15322983

2004
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation CLINVAR The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. 12975303

2003
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 GeneticVariation CLINVAR

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
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes. 17227580

2007
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 15226407

2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 12921789

2003
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