MMP20, matrix metallopeptidase 20, 9313

N. diseases: 40; N. variants: 9
Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61730849
rs61730849
Entrez Id: 9313;101928477
Gene Symbol: MMP20;LOC101928477
MMP20;LOC101928477
CUI: C2675858
Disease:
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		A 0.700 GeneticVariation CLINVAR Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. 28473773 2017
dbSNP: rs61730849
rs61730849
Entrez Id: 9313;101928477
Gene Symbol: MMP20;LOC101928477
MMP20;LOC101928477
CUI: C2675858
Disease:
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		A 0.700 GeneticVariation CLINVAR Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. 28659819 2017
dbSNP: rs61730849
rs61730849
Entrez Id: 9313;101928477
Gene Symbol: MMP20;LOC101928477
MMP20;LOC101928477
CUI: C2675858
Disease:
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		A 0.700 GeneticVariation CLINVAR Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta. 23625376 2013
dbSNP: rs587777515
rs587777515
Entrez Id: 9313;101928477
Gene Symbol: MMP20;LOC101928477
MMP20;LOC101928477
CUI: C2675858
Disease:
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777516
rs587777516
Entrez Id: 9313;101928477
Gene Symbol: MMP20;LOC101928477
MMP20;LOC101928477
CUI: C2675858
Disease:
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786204826
rs786204826
Entrez Id: 9313;101928477
Gene Symbol: MMP20;LOC101928477
MMP20;LOC101928477
CUI: C2675858
Disease:
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 		C 0.700 CausalMutation CLINVAR