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: 5264
Gene Symbol: PHYH
PHYH 		phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		disease 1.000 None 1.000 1 0 1984 2017
Entrez Id: 5264
Gene Symbol: PHYH
PHYH 		phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH 		phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 0 0