DSPP, dentin sialophosphoprotein, 1834

N. diseases: 114; N. variants: 13
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Deficiency of the DSPP-cleaving enzymes meprin α and meprin β does not result in dentin malformation in mice. 27628095 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families. 22243242 2011