| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.900 | Biomarker | disease | GENOMICS_ENGLAND | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 | ||||
|
0.900 | Biomarker | disease | MGD | S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. | 23695275 | 2014 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. | 19770540 | 2009 | ||||
|
0.900 | Biomarker | disease | GENOMICS_ENGLAND | Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? | 19259135 | 2009 | ||||
|
0.900 | GeneticVariation | disease | CLINVAR | Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. | 16524571 | 2006 | ||||
|
0.900 | Biomarker | disease | MGD | Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. | 10862711 | 2000 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. | 10974018 | 2000 | ||||
|
0.900 | Biomarker | disease | MGD | Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. | 10481911 | 1999 | ||||
|
0.900 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). | 10735275 | 1997 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). | 10735275 | 1997 | ||||
|
0.900 | Biomarker | disease | CTD_human |