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: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		disease 0.160 None 1.000 0 1 1989 2019
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS 		PTCHD1 antisense RNA (head to head) 0.839 0.308
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		disease 0.100 None 0 1