SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909297
rs121909297
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909296
rs121909296
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1267810339
rs1267810339
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1267810339
rs1267810339
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554094947
rs1554094947
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		AGGTG 0.700 CausalMutation CLINVAR
dbSNP: rs1554137109
rs1554137109
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554137109
rs1554137109
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554137130
rs1554137130
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554137130
rs1554137130
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs267607045
rs267607045
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397517921
rs397517921
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0027868
Disease:
Neuromuscular Diseases 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517923
rs397517923
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397517923
rs397517923
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs727503422
rs727503422
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs727503422
rs727503422
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs727503422
rs727503422
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0027868
Disease:
Neuromuscular Diseases 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554094927
rs1554094927
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. 8841194 1996
dbSNP: rs121909297
rs121909297
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs121909295
rs121909295
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		T 0.700 CausalMutation CLINVAR Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). 10735275 1997
dbSNP: rs121909295
rs121909295
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		T 0.700 CausalMutation CLINVAR Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). 10735275 1997
dbSNP: rs1554094927
rs1554094927
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 CausalMutation CLINVAR Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). 10735275 1997
dbSNP: rs1554094927
rs1554094927
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 CausalMutation CLINVAR A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. 10838250 2000
dbSNP: rs121909298
rs121909298
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		0.700 GeneticVariation UNIPROT Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. 10974018 2000
dbSNP: rs1175344271
rs1175344271
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		A 0.700 GeneticVariation CLINVAR Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. 16524571 2006
dbSNP: rs1175344271
rs1175344271
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.700 GeneticVariation CLINVAR Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. 16524571 2006