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: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 2 0 2014 2019