Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150376474
rs150376474
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 GeneticVariation UNIPROT Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. 28497574

2017
dbSNP: rs150376474
rs150376474
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 GeneticVariation UNIPROT High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. 23026888

2012
dbSNP: rs150376474
rs150376474
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 GeneticVariation UNIPROT Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. 20876572

2010
dbSNP: rs150376474
rs150376474
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA 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
dbSNP: rs150376474
rs150376474
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 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
dbSNP: rs150376474
rs150376474
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 GeneticVariation UNIPROT Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. 15523652

2004
dbSNP: rs150376474
rs150376474
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		0.800 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
dbSNP: rs150376474
rs150376474
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		A 0.800 CausalMutation CLINVAR