MMP20, matrix metallopeptidase 20, 9313

N. diseases: 40; N. variants: 9
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2 ×
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