DSPP, dentin sialophosphoprotein, 1834

N. diseases: 114; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease CLINVAR The dentin phosphoprotein repeat region and inherited defects of dentin. 26788535 2016
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease UNIPROT A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. 18521831 2008
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 Biomarker disease GENOMICS_ENGLAND Assignment of dentin sialophosphoprotein (DSPP) to the critical DGI2 locus on human chromosome 4 band q21.3 by in situ hybridization. 9533027 1997
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease BEFREE Our study indicates that DGI-III is allelic with some forms of DGI-II with and without progressive hearing loss and dentin dysplasia type II that have been shown to be caused by mutations within the DSP coding or signal peptide regions. 15690376 2005
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 Biomarker disease CTD_human
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease BEFREE In eight families (five mutations in the N-terminal third of DPP), the clinical and radiologic features were uniform and compatible with dentin dysplasia type II (DD-II) with major clinical signs in the deciduous dentition. 20949630 2011
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease BEFREE Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type II and III dentinogenesis imperfecta and type II dentin dysplasia. 25118030 2015
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease BEFREE To date, several mutations have been described in the dentin sialophosphoprotein (DSPP) gene, causing DGI types II and III and dentin dysplasia type II. 17026502 2006
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease 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
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 Biomarker disease GENOMICS_ENGLAND Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. 27973701 2017
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease BEFREE Dentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD-II) and dentinogenesis imperfecta types II and III (DGI-II and DGI-III, respectively). 22243242 2011
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease BEFREE Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. 9541230 1998
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 CausalMutation disease CLINVAR
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GermlineCausalMutation disease ORPHANET
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 GeneticVariation disease BEFREE We have identified a DSPP splice junction mutation (IVS2-6T>G) in a family with dentin dysplasia type II. 19026876 2008
CUI: C0399380
Disease: Dentin dyspalsia, Shields type 2
Dentin dyspalsia, Shields type 2 		0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 GeneticVariation disease BEFREE This study presents evidence of a shared underlying mechanism of capturing of normal DSPP by two different classes of DSPP mutations and offers an explanation for the mild (DD-II) versus severe (DGI-II and III) nonsyndromic dentin phenotypes. 22392858 2012
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 GeneticVariation disease BEFREE Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. 11175790 2001
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 Biomarker disease GENOMICS_ENGLAND DSPP mutation in dentinogenesis imperfecta Shields type II. 11175779 2001
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 Biomarker disease GENOMICS_ENGLAND Hereditary dentin defects can be categorised into two classes according to their clinical manifestations: dentinogenesis imperfecta (DGI), which includes three types (DGI-I, DGI-II and DGI-III), and dentin dysplasia (DD), which includes two types (DD-I and DD-II). 27973701 2017
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 Biomarker disease CTD_human
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 Biomarker disease BEFREE Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases: DGI-II, DGI-III, and DD-II. 29575674 2019
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 GeneticVariation disease UNIPROT Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. 14758537 2004
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 CausalMutation disease CLINVAR
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 Biomarker disease GENOMICS_ENGLAND