Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation CLINVAR

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation CLINVAR

Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276

2015
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 CausalMutation CLINVAR

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 CausalMutation CLINVAR

Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 CausalMutation CLINVAR

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 CausalMutation CLINVAR

Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.360 GeneticVariation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.200 GeneticVariation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.200 CausalMutation CLINVAR

Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. 27527004

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410

2015
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 CausalMutation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512

2013
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR