DisGeNET - a database of gene-disease associations

MMACHC, metabolism of cobalamin associated C, 25974

N. diseases: 76; N. variants: 64

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200895671

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.

29294253

2018

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type.

28218226

2017

dbSNP:

rs200895671

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Molecular picture of cobalamin C/D defects before and after newborn screening era.

27252276

2017

dbSNP:

rs546099787

Entrez Id:	25974;126661
Gene Symbol:	MMACHC;CCDC163

MMACHC;CCDC163

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report.

29042959

2017

dbSNP:

rs546099787

Entrez Id:	25974;126661
Gene Symbol:	MMACHC;CCDC163

MMACHC;CCDC163

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.

28327205

2017

dbSNP:

rs140522266

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

26825575

2016

dbSNP:

rs140522266

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

26825575

2016

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

25809485

2015

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.

25687216

2015

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

MMACHC gene mutation in familial hypogonadism with neurological symptoms.

26283149

2015

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

25809485

2015

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

25809485

2015

dbSNP:

rs140522266

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

25689098

2015

dbSNP:

rs140522266

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

25809485

2015

dbSNP:

rs140522266

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

25689098

2015

dbSNP:

rs200895671

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

25809485

2015

dbSNP:

rs370596113

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

25809485

2015

dbSNP:

rs538023671

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

25809485

2015

dbSNP:

rs538023671

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.

26149271

2015

dbSNP:

rs546099787

Entrez Id:	25974;126661
Gene Symbol:	MMACHC;CCDC163

MMACHC;CCDC163

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

25809485

2015

dbSNP:

rs546099787

Entrez Id:	25974;126661
Gene Symbol:	MMACHC;CCDC163

MMACHC;CCDC163

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

[Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia].

26412180

2015

dbSNP:

rs200895671

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

24599607

2014

dbSNP:

rs538023671

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

24599607

2014

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

23825108

2013

dbSNP:

rs370596113

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

23954310

2013