Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
0.020 GeneticVariation disease BEFREE The two siblings suspected of having the cblA-type of MMA showed mild phenotypes during follow-up, and a novel, homozygous missense variant in their MMAA genes was identified. 29996803 2018
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
0.020 GeneticVariation disease BEFREE A homozygous mutation in exon 4 of the MMAA gene was found in mutation analysis and confirmed the diagnosis of cblA-deficient MMA. 21545677 2012