MMP20, matrix metallopeptidase 20, 9313

N. diseases: 40; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		0.800 Biomarker disease GENOMICS_ENGLAND Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. 28659819 2017
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		0.800 GeneticVariation disease CLINVAR Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. 28473773 2017
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		0.800 GeneticVariation disease CLINVAR Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. 28659819 2017
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		0.800 GeneticVariation disease CLINVAR Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta. 23625376 2013
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		0.800 Biomarker disease MGD Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. 12393861 2002
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		0.800 Biomarker disease CTD_human
CUI: C2675858
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		0.800 CausalMutation disease CLINVAR
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease BEFREE Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified <i>MMP20</i> Mutations Causing Amelogenesis Imperfecta. 28659819 2017
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 Biomarker disease BEFREE Therefore, we attributed the AI primarily to the reduction of MMP20 and KLK4. 27146352 2016
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 Biomarker disease BEFREE Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta. 26124219 2015
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 AlteredExpression disease BEFREE We suggest that the pathogenesis of this form of AI may be due to ineffective ligand binding of ITGB6 resulting in either compromised cell-matrix interaction or compromised ITGB6 activation of transforming growth factor-β (TGF-β) impacting indirectly on ameloblast-ameloblast interactions and proteolytic processing of extracellular matrix proteins via MMP20. 24319098 2014
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease BEFREE Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta. 23625376 2013
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease BEFREE Amelogenesis imperfecta (AI) is an inherited disorder that is associated with mutations in five genes (AMEL; ENAM; MMP20; KLK4 and FAM83H) with a wide range of clinical presentations (phenotypes). 22538897 2012
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease BEFREE We have since expanded the number of AI kindreds to 39, and performed mutation analyses covering the coding exons and adjoining intron sequences for the six proven AI candidate genes [amelogenin (AMELX), enamelin (ENAM), family with sequence similarity 83, member H (FAM83H), WD repeat containing domain 72 (WDR72), enamelysin (MMP20), and kallikrein-related peptidase 4 (KLK4)] and for ameloblastin (AMBN) (a suspected candidate gene). 22243262 2011
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease BEFREE MMP20 hemopexin domain mutation in amelogenesis imperfecta. 19966041 2010
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 Biomarker disease BEFREE The proven candidate genes for amelogenesis imperfecta (AI) are AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72. 20938048 2010
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease BEFREE We have identified an ARAI-causing point mutation (c.102G>A, g.102G>A, and p.W34X) in exon 1 of MMP20 in a proband with autosomal-recessive hypoplastic-hypomaturation amelogenesis imperfecta. 18096894 2008
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease BEFREE Our study supports a model in which the P41T mutation reduces the interactions between amelogenin and MMP20, leading to decreased degradation of amelogenin by MMP20, and resulting in AI. 18434575 2008
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 Biomarker disease BEFREE Genes expressed by odontoblasts (COL1A1, COL1A2, and DSPP), and ameloblasts (AMELX, ENAM, MMP20, and KLK4) during the crown formation stage, are associated with dentinogenesis imperfecta, dentin dysplasia, and amelogenesis imperfecta. 17552940 2007
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease LHGDN MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. 15744043 2005
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 GeneticVariation disease BEFREE To determine the frequency of mutations in these genes, we analyzed 15 Turkish probands with autosomal-recessive hypomaturation AI for MMP20 and KLK4 gene mutations.No KLK4 mutations were found. 16246936 2005
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 Biomarker disease BEFREE This study suggests that the reduced rate of TRAP formation by a single amino acid substitution alters enamel matrix hydrolysis by MMP-20, which may result in amelogenesis imperfecta. 12648554 2003
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 Biomarker disease MGD Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. 12393861 2002
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 Biomarker disease HPO
CUI: C0399372
Disease: Amelogenesis Imperfecta hypomaturation type
Amelogenesis Imperfecta hypomaturation type 		0.300 GermlineCausalMutation disease ORPHANET MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. 15744043 2005