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 		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: rs121909297
rs121909297
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		A 0.800 CausalMutation CLINVAR
dbSNP: rs17053082
rs17053082
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.800 GeneticVariation GWASDB Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. 23300278 2013
dbSNP: rs17053082
rs17053082
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.800 GeneticVariation GWASCAT Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. 23300278 2013
dbSNP: rs10056066
rs10056066
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		A 0.700 GeneticVariation GWASCAT A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease. 26503814 2016
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
dbSNP: rs11960617
rs11960617
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11960617
rs11960617
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11960617
rs11960617
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs121909295
rs121909295
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1847667
Disease:
CARDIOMYOPATHY, DILATED, 1L 		T 0.700 CausalMutation CLINVAR Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 19770540 2009
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: rs121909295
rs121909295
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		T 0.700 CausalMutation CLINVAR Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 19770540 2009
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: 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: 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: rs138538719
rs138538719
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0036341
Disease:
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of paliperidone efficacy. 27846195 2017
dbSNP: rs1554094927
rs1554094927
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1832525
Disease:
Limb-girdle muscular dystrophy type 2F 		T 0.700 GeneticVariation CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
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: 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: 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