MMP2, matrix metallopeptidase 2, 4313

N. diseases: 1021; N. variants: 43
Disease: TORG-WINCHESTER SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912955
rs121912955
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease:
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT A novel homozygous MMP2 mutation in a family with Winchester syndrome. 16542393 2006
dbSNP: rs121912955
rs121912955
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease:
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 15691365 2005
dbSNP: rs121912955
rs121912955
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease:
TORG-WINCHESTER SYNDROME 		0.800 GeneticVariation UNIPROT Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 11431697 2001
dbSNP: rs121912955
rs121912955
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease:
TORG-WINCHESTER SYNDROME 		A 0.800 CausalMutation CLINVAR