SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Disease: RIPPLING MUSCLE DISEASE 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Rippling is not always electrically silent in rippling muscle disease. 21404291 2011
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 20472890 2010
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 19380584 2009
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 18930476 2009
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT A new missense mutation in caveolin-3 gene causes rippling muscle disease. 16458928 2006
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980 2005
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Phenotypic variability associated with Arg26Gln mutation in caveolin3. 15318349 2004
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT Two novel CAV3 gene mutations in Japanese families. 15564037 2004
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. 12839838 2003
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441 2003
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Caveolin-3 gene mutation in Japanese with rippling muscle disease. 12807393 2003
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases. 14633633 2003
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441 2003
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 12666119 2003
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT Consequences of a novel caveolin-3 mutation in a large German family. 12557291 2003
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270 2002
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 11756609 2001
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 11431690 2001
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. 11532985 2001
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 11756609 2001
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 11431690 2001
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		A 0.800 CausalMutation CLINVAR Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614 2000
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.800 GeneticVariation UNIPROT Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. 11001938 2000