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: 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 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 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 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: C0011430
Disease: Dentin Dysplasia
Dentin Dysplasia 		0.200 Biomarker disease MGD Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. 27680507 2017
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