MMAB, metabolism of cobalamin associated B, 326625

N. diseases: 46; N. variants: 40
Disease: Methylmalonic aciduria cblB type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease BEFREE Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). 29660608 2018
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. 29197662 2018
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR [Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. 29039164 2017
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 24516753 2014
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. 23707710 2014
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. 23707710 2014
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 24059531 2013
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type. 23674520 2013
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 24059531 2013
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR Neurocognitive phenotype of isolated methylmalonic acidemia. 22614770 2012
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. 22695176 2012
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. 21048060 2011
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase. 21604717 2011
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. 20696242 2010
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 20549364 2010
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. 20556797 2010
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease BEFREE Mutations in the MMAB gene encoding ATR are responsible for the cblB type methylmalonic aciduria. 20556797 2010
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase. 19625202 2009
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase. 19625202 2009
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 17957493 2008
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase. 18251506 2008
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease UNIPROT Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 17957493 2008
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 CausalMutation disease CLINVAR Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 17957493 2008
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		0.730 GeneticVariation disease CLINVAR Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. 17410422 2007