SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Disease: Dentin dysplasia, type 1 ×
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