Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE. 30204970

2018

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC. 27324188

2016

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND MMACHC gene mutation in familial hypogonadism with neurological symptoms. 26283149

2015

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND MMACHC gene mutation in familial hypogonadism with neurological symptoms. 26283149

2015

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy. 20610126

2010

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy. 20610126

2010

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. 20631720

2010

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Methylmalonic acidemia with homocystinuria
0.950 Biomarker GENOMICS_ENGLAND Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. 17874135

2007