ALG3, ALG3 alpha-1,3- mannosyltransferase, 10195

N. diseases: 61; N. variants: 13
Disease: Congenital disorder of glycosylation type 1s ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		0.020 Biomarker disease BEFREE ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltransferase ALG3. 31067009 2019
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		0.020 Biomarker disease BEFREE ALG3-CDG is very rare, with only nine patients described so far. 26126960 2015