MMP2, matrix metallopeptidase 2, 4313

N. diseases: 1021; N. variants: 43
Disease: Apert syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745732650
rs745732650
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0001193
Disease:
Apert syndrome 		0.010 GeneticVariation BEFREE The cause of Apert syndrome is a single nucleotide substitution mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). 30251381 2018