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: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 Biomarker disease BEFREE DSPP is thereby strengthened as a candidate gene for both DGI-II and DD-II. 9541230 1998
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 GeneticVariation disease BEFREE 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 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: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		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: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 GeneticVariation disease UNIPROT Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation. 21029264 2011
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 GeneticVariation disease UNIPROT Disorders of human dentin. 17627120 2007
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 GeneticVariation disease UNIPROT 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 GermlineCausalMutation disease ORPHANET
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		0.770 GeneticVariation disease UNIPROT 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 Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis. 22310900 2012
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 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: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 CausalMutation disease CLINVAR
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 Biomarker disease CTD_human
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 GeneticVariation disease UNIPROT A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect. 23509818 2013
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 GeneticVariation disease UNIPROT Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 15592686 2005
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 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: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 GeneticVariation disease UNIPROT A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. 18521831 2008
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		0.710 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: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		0.700 GeneticVariation disease LHGDN Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. 18797159 2009
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		0.700 GeneticVariation disease LHGDN All five exons and exon-intron boundaries of DSPP were sequenced in members of type II DGI family. 17686168 2007
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		0.700 GeneticVariation disease BEFREE Mutations in the dentin sialophosphoprotein (DSPP) gene cause dentinogenesis imperfecta. 29672573 2018
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		0.700 GeneticVariation disease BEFREE De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. 20121932 2009
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		0.700 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