rs786204786, SGCG

N. diseases: 1
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.700 CausalMutation CLINVAR Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression. 23929688 2014
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.700 CausalMutation CLINVAR Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population. 24552312 2014
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.700 CausalMutation CLINVAR A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. 22240777 2012
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.700 CausalMutation CLINVAR Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. 20623375 2010
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. 12566530 2003
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.700 CausalMutation CLINVAR [Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation]. 12040521 2002
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.700 CausalMutation CLINVAR Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. 10942431 2000
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.700 CausalMutation CLINVAR Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. 7481775 1995