rs116840789, SSUH2;CAV3

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
RIPPLING MUSCLE DISEASE 2 (disorder)
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
0.800 CausalMutation CLINVAR
RIPPLING MUSCLE DISEASE 2 (disorder)
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
0.800 GeneticVariation UNIPROT
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
0.700 CausalMutation CLINVAR
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
0.010 GeneticVariation BEFREE This study suggested that the CAV3 c.136G > A (p.Ala46Thr) mutation can cause MD as well as different phenotypes in different individuals, suggesting that additional unknown loci must affect the disease phenotypes. 26947586 2016
Rippling muscle disease
CUI: C1853698
Disease: Rippling muscle disease
0.010 GeneticVariation BEFREE Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. 20229577 2010
Muscle Cramp
CUI: C0026821
Disease: Muscle Cramp
0.010 GeneticVariation BEFREE Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. 11001938 2000
Myalgia
CUI: C0231528
Disease: Myalgia
0.010 GeneticVariation BEFREE Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. 11001938 2000