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: 5352
Gene Symbol: PLOD2
PLOD2 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.559 0.654 6.7E-08
CUI: C1836602
Disease: Bruck syndrome 2
Bruck syndrome 2 		disease 0.700 None 1.000 2 0 2003 2012
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.559 0.654 6.7E-08
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome 		disease 0.600 strong 0.909 1 0 1999 2020
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.559 0.654 6.7E-08
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease 0.350 strong 0.800 1 0 2004 2020