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: 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: 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: 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: rs121909298
rs121909298
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0878544
Disease:
Cardiomyopathies 		0.020 GeneticVariation BEFREE Our findings demonstrate that, even in the presence of a second disease-causing mutation, the p.S151A mutation in the delta-sarcoglycan gene does not result in cardiomyopathy. 19259135 2009
dbSNP: rs121909298
rs121909298
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0878544
Disease:
Cardiomyopathies 		0.020 GeneticVariation BEFREE Our results suggest that the p.S151A mutation causes a mild, subclinical phenotype of cardiomyopathy, which is prone to be overseen in patients carrying such sequence variants. 23695275 2014
dbSNP: rs121909298
rs121909298
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0018799
Disease:
Heart Diseases 		0.010 GeneticVariation BEFREE This is controversial to our previous findings in a large consanguineous family where this p.S151A mutation showed no relevance for cardiac disease. 23695275 2014
dbSNP: rs121909298
rs121909298
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE In this study, the potential of the p.S151A mutation to cause DCM was investigated by using two different approaches: (1) engineering and characterization of heterozygous knock-in (S151A-) mice carrying the p.S151A mutation and (2) evaluation of the potential of adeno-associated virus (AAV) 9-based cardiac-specific transfer of p.S151A-mutated Sgcd cDNA to rescue the cardiac phenotype in Sgcd-deficient (Sgcd-null) mice as it has been demonstrated for intact, wild-type Sgcd cDNA. 23695275 2014
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: rs13170573
rs13170573
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0520679
Disease:
Sleep Apnea, Obstructive 		0.010 GeneticVariation BEFREE The GG, GC and CC genotypes of rs13170573 in control and OSA groups were 51.5% and 37.1%, 36.6% and 35.1%, and 11.9% and 27.8%, respectively. 25474115 2014
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: rs140616
rs140616
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0242383
Disease:
Age related macular degeneration 		0.010 GeneticVariation BEFREE Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (adjusted odds ratio (OR) 0.13; 95% CI 0.02⁻0.91; <i>p</i> = 0.041). 30257524 2018
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