Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 GeneticVariation UNIPROT Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. 28497574

2017
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 GeneticVariation UNIPROT High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. 23026888

2012
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 GeneticVariation UNIPROT Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. 20876572

2010
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 GeneticVariation UNIPROT Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 17957493

2008
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 GeneticVariation UNIPROT Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. 15308131

2004
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 GeneticVariation UNIPROT Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. 15523652

2004
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 GeneticVariation UNIPROT Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. 12438653

2002
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 Biomarker GENOMICS_ENGLAND Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. 12438653

2002
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 Biomarker CTD_human

Entrez Id: 166785
Gene Symbol: MMAA
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.700 GermlineCausalMutation ORPHANET