Source: HPO

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: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4025424
Disease: Abnormality of ulnar metaphysis
Abnormality of ulnar metaphysis 		disease 0.100 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C4025424
Disease: Abnormality of ulnar metaphysis
Abnormality of ulnar metaphysis 		disease 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C4025424
Disease: Abnormality of ulnar metaphysis
Abnormality of ulnar metaphysis 		disease 0.100 None 0 0