SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 GeneticVariation disease CLINVAR
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 CausalMutation phenotype CLINVAR
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
LONG QT SYNDROME 9 (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		0.100 CausalMutation disease CLINVAR
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 11756609 2001
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 11756609 2001
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Caveolin-3 gene mutation in Japanese with rippling muscle disease. 12807393 2003
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Caveolin-3 gene mutation in Japanese with rippling muscle disease. 12807393 2003
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Caveolinopathy--new mutations and additional symptoms. 18583131 2008
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 20472890 2010
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 20472890 2010
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441 2003
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441 2003
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 19380584 2009
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 19380584 2009
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
CUI: C0011430
Disease: Dentin Dysplasia
Dentin Dysplasia 		0.200 Biomarker disease MGD Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. 27680507 2017
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614 2000
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614 2000
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270 2002
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270 2002
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 11431690 2001
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 11431690 2001
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. 12839838 2003