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: C0399379
Disease: Dentin dysplasia, type 1
Dentin dysplasia, type 1 		0.310 GermlineCausalMutation disease ORPHANET Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p.P118Q) in the SSUH2 gene on 3p26.1, which co-segregated with DDI. 27680507 2017
CUI: C0399379
Disease: Dentin dysplasia, type 1
Dentin dysplasia, type 1 		0.310 GeneticVariation disease BEFREE Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p.P118Q) in the SSUH2 gene on 3p26.1, which co-segregated with DDI. 27680507 2017
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: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 GeneticVariation disease CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Rippling is not always electrically silent in rippling muscle disease. 21404291 2011
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Rippling is not always electrically silent in rippling muscle disease. 21404291 2011
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 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 Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 18930476 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: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 18930476 2009
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 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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Phenotypic variability associated with Arg26Gln mutation in caveolin3. 15318349 2004
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease CLINVAR Phenotypic variability associated with Arg26Gln mutation in caveolin3. 15318349 2004
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: 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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease 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
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: 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: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.100 CausalMutation disease 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
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
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