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 GeneticVariation CLINVAR Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle. 25605665 2015
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 GeneticVariation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 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 GeneticVariation CLINVAR Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 19770540 2009
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 GeneticVariation CLINVAR A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy. 9673983 1998
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