rs121912988, DSPP

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dentin dyspalsia, Shields type 2
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
0.800 GeneticVariation UNIPROT A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. 18521831 2008
Dentin dyspalsia, Shields type 2
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
0.800 GeneticVariation UNIPROT Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. 12354781 2002
Dentin dyspalsia, Shields type 2
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
0.800 CausalMutation CLINVAR