Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C2751322
Disease: Metaphyseal Anadysplasia 2
Metaphyseal Anadysplasia 2 		disease 0.500 moderate 1.000 1 0 2009 2009
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0