Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital Disorders of Glycosylation
0.040 GeneticVariation group BEFREE The genes reported for CDG with NIHF for 15 distinct families include: PMM2 in 47% (7/15), ALG9 in 20% (3/15), ALG8 in 13% (2/15), ALG1 in 7% (1/15), MGAT2 in 7% (1/15), and COG6 7% (1/15). 31420886 2020
Congenital Disorders of Glycosylation
0.040 GeneticVariation group BEFREE Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). 28742265 2017
Congenital Disorders of Glycosylation
0.040 GeneticVariation group BEFREE Two unrelated CDGS type II patients are shown to have point mutations (one patient having Ser-->Phe and the other having His-->Arg) in the catalytic domain of the gene MGAT2, encoding UDP-GlcNAc:alpha-6-D-mannoside beta-1,2-N- acetylglucosaminyltransferase II (GnT II), an enzyme essential for biosynthesis of complex Asn-linked glycans. 8808595 1996
Congenital Disorders of Glycosylation
0.040 GeneticVariation group BEFREE Fibroblast extracts from two patients with a recently described variant of this disease (CDGS type II) have previously been shown to have over 98% reduced activity of UDP-GlcNAc:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II [GlcNAc-TII; Jaeken, J., Schachter, H., Carchon, H., De Cock, P., Coddeville, B.& Spik, G. (1994) Arch.Dis.Childhood 71, 123-127]. 7607254 1995