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: 5034
Gene Symbol: P4HB
P4HB 		prolyl 4-hydroxylase subunit beta 0.488 0.808 1.00
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome 		disease 0.630 None 1.000 1 0 2015 2018
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		prolyl 4-hydroxylase subunit beta 0.488 0.808 1.00
CUI: C4317154
Disease: COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 1 		disease 0.610 None 1.000 2 0 2015 2017
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		prolyl 4-hydroxylase subunit beta 0.488 0.808 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease 0.320 strong 1.000 1 0 2015 2019