Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | A new insight into PMM2 mutations in the French population. | 15844218 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. | 11343337 | 2001 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). | 9140401 | 1997 |
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T | 0.700 | CausalMutation | CLINVAR | Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. | 24498599 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. | 28373276 | 2017 |
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T | 0.700 | CausalMutation | CLINVAR | Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). | 10527672 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. | 26805780 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. | 10602363 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. | 26014514 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). | 10854097 | 2000 |
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T | 0.700 | CausalMutation | CLINVAR | Three families with mild PMM2-CDG and normal cognitive development. | 28425223 | 2017 |