MGAT2, alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase, 4247
N. diseases: 76; N. variants: 9
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. | 11228641 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. | 11228641 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. | 11228641 | 2000 | |||||||
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0.800 | GeneticVariation | 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 | |||||||
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0.800 | GeneticVariation | 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 | |||||||
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0.800 | GeneticVariation | 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 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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AT | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR |