Source: CLINVAR

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: 54749
Gene Symbol: EPDR1
EPDR1 		ependymin related 1 0.769 0.308 1.8E-02
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 1
Entrez Id: 54749
Gene Symbol: EPDR1
EPDR1 		ependymin related 1 0.769 0.308 1.8E-02
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		disease 0.100 None 0 3