Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. 30157807 2018
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. 28693988 2017
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. 26149271 2015
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease MGD The Mmachc gene is required for pre-implantation embryogenesis in the mouse. 24889031 2014
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN The Mmachc gene is required for pre-implantation embryogenesis in the mouse. 24889031 2014
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. 23580368 2013
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 GermlineCausalMutation disease ORPHANET The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans. 21497120 2011
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. 19700356 2009
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. 18164228 2008
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN Decyanation of vitamin B12 by a trafficking chaperone. 18779575 2008
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay. 16963011 2007
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 GermlineCausalMutation disease ORPHANET Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 16311595 2006
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 Biomarker disease CLINGEN Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 16311595 2006
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.800 CausalMutation disease CLINVAR
Entrez Id: 5052
Gene Symbol: PRDX1
PRDX1 		0.100 CausalMutation disease CLINVAR