SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Disease: Limb-girdle muscular dystrophy type 2F ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 Biomarker disease CTD_human Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy. 20675662 2010
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 Biomarker disease GENOMICS_ENGLAND Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? 19259135 2009
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 CausalMutation disease CLINVAR Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 19770540 2009
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 GeneticVariation disease CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 Biomarker disease BEFREE To explore the possibility that elevating alpha7beta1 integrin expression could also ameliorate different forms of muscular dystrophy, we used transgenic technology to enhance integrin expression in mice lacking delta-sarcoglycan (delta sgc), a mouse model for human limb girdle muscular dystrophy type 2F. 17255329 2007
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 GeneticVariation disease BEFREE This is based on the study of one mildly affected patient with limb-girdle muscular dystrophy type 2F (LGMD2F) due to the homozygous c.656delC mutation in the delta-SG gene. 17265058 2007
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 GeneticVariation disease CLINVAR Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. 16524571 2006
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 CausalMutation disease CLINVAR A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. 10838250 2000
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 Biomarker disease MGD Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. 10862711 2000
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 GeneticVariation disease BEFREE A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. 10838250 2000
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 Biomarker disease MGD Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. 10481911 1999
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 GeneticVariation disease BEFREE A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. 9832045 1998
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 GeneticVariation disease UNIPROT In the present report, through screening 23 unrelated AR LGMD patients, we identified three subjects with LGMD2F, two with a previously reported frameshift mutation and the other homozygous for a new missense mutation in the delta sarcoglycan gene. 9832045 1998
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 CausalMutation disease CLINVAR Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). 10735275 1997
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		0.940 CausalMutation disease CLINVAR Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. 8841194 1996