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: 1798
Gene Symbol: DPAGT1
DPAGT1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 0.621 0.538 1.1E-05
Congenital disorder of glycosylation type 1J
disease 0.730 strong 1.000 4 0 2003 2019
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 0.621 0.538 1.1E-05
CUI: C3553645
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13
MYASTHENIC SYNDROME, CONGENITAL, 13
disease 0.600 strong 1.000 5 0 2012 2019
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 0.621 0.538 1.1E-05
CUI: C0333768
Disease: Tubular aggregates
Tubular aggregates
phenotype 0.300 strong 1.000 1 0 2015 2015