Gene: MMACHC ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.020 GeneticVariation disease BEFREE Furthermore, next-generation sequencing identified the presence of two heterozygous mutations in the MMA cblC type with homocystinuria (MMACHC) gene. 29042959 2017
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.020 GeneticVariation disease BEFREE The results indicate that defects occurring in the MMACHC gene are the major cause of this disease in Chinese patients with combined MMA and HC, and direct mutation analysis can therefore be used as a rapid confirmatory diagnosis among these Chinese patients. 20631720 2010