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: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		disease 0.730 None 1.000 4 0 2000 2016
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group 0.330 strong 1.000 0 0 2000 2017
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 strong 1.000 1 0 2000 2000