MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
Disease: Metaphyseal chondrodysplasia Spahr type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140059558
rs140059558
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		0.800 GeneticVariation UNIPROT Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. 24781753 2015
dbSNP: rs140059558
rs140059558
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		0.800 GeneticVariation UNIPROT MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 24648384 2014
dbSNP: rs140059558
rs140059558
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121909500
rs121909500
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs369083541
rs369083541
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		A 0.700 CausalMutation CLINVAR