| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND | MGAT2 deficiency (CDG-IIa): the Life of J. | 19419693 | 2009 | ||||
|
0.920 | GeneticVariation | disease | BEFREE | However, crossing the Mgat2 mutation into a distinct genetic background resulted in a low frequency of survivors exhibiting additional and novel disease signs of CDG-IIa. | 12417412 | 2002 | ||||
|
0.920 | Biomarker | disease | MGD | Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. | 11805078 | 2001 | ||||
|
0.920 | GeneticVariation | disease | UNIPROT | Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. | 11228641 | 2000 | ||||
|
0.920 | GeneticVariation | disease | UNIPROT | Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. | 8808595 | 1996 | ||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. | 8808595 | 1996 | ||||
|
0.920 | GeneticVariation | disease | BEFREE | Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. | 8808595 | 1996 | ||||
|
0.920 | Biomarker | disease | CTD_human | |||||||
|
0.920 | CausalMutation | disease | CLINVAR | |||||||
|
0.920 | Biomarker | disease | GENOMICS_ENGLAND |