| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. | 23707710 | 2014 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. | 24059531 | 2013 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Neurocognitive phenotype of isolated methylmalonic acidemia. | 22614770 | 2012 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. | 21048060 | 2011 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. | 20696242 | 2010 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase. | 19625202 | 2009 | |||||
Methylmalonic aciduria cblB type
|
0.800 | GeneticVariation | UNIPROT | Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. | 17957493 | 2008 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. | 17957493 | 2008 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. | 16439175 | 2006 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. | 16410054 | 2006 | |||||
Methylmalonic aciduria cblB type
|
0.800 | GeneticVariation | UNIPROT | Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. | 15781192 | 2005 | |||||
Methylmalonic aciduria cblB type
|
0.800 | GeneticVariation | UNIPROT | Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. | 12471062 | 2002 | |||||
Methylmalonic aciduria cblB type
|
0.800 | CausalMutation | CLINVAR | Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. | 12471062 | 2002 | |||||
Methylmalonic acidemia
|
0.700 | CausalMutation | CLINVAR | Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. | 16311595 | 2006 | |||||
Methylmalonic acidemia
|
0.700 | CausalMutation | CLINVAR | Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. | 12471062 | 2002 |