Source: CTD_human

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: 5351
Gene Symbol: PLOD1
PLOD1 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0268342
Disease: Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome type 6 		disease 0.770 strong 1.000 1 0 1993 2015
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.400 None 1.000 1 0 2005 2005
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C4551497
Disease: Ehlers-Danlos syndrome kyphoscoliotic type
Ehlers-Danlos syndrome kyphoscoliotic type 		disease 0.320 None 1.000 1 0 2001 2017
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C2936777
Disease: Nevo syndrome (disorder)
Nevo syndrome (disorder) 		disease 0.300 None 1.000 1 0 2005 2005