SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
0.900 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
0.900 Biomarker disease MGD S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. 23695275 2014
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
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
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
0.900 Biomarker disease GENOMICS_ENGLAND Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? 19259135 2009
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
0.900 GeneticVariation disease CLINVAR Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. 16524571 2006
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
0.900 Biomarker disease MGD Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. 10862711 2000
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
0.900 GeneticVariation disease UNIPROT Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. 10974018 2000
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
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
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
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
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
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
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L
0.900 Biomarker disease CTD_human