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:

rs1557607997

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0013144
Disease:

Drowsiness

0.700

CausalMutation

CLINVAR

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

25398587

2014

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

21748409

2012

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

19370762

2009

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

MMACHC gene mutation in familial hypogonadism with neurological symptoms.

26283149

2015

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

16311595

2006

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

16714133

2006

dbSNP:

rs121918243

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

26658511

2015

dbSNP:

rs1557607997

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C0557874
Disease:

Global developmental delay

0.700

CausalMutation

CLINVAR

dbSNP:

rs4660306

Entrez Id:	5052;25974
Gene Symbol:	PRDX1;MMACHC

PRDX1;MMACHC

CUI:	C2242817
Disease:

Homocysteine measurement

0.800

GeneticVariation

GWASDB

Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

23824729

2013

dbSNP:

rs4660306

Entrez Id:	5052;25974
Gene Symbol:	PRDX1;MMACHC

PRDX1;MMACHC

CUI:	C2242817
Disease:

Homocysteine measurement

0.800

GeneticVariation

GWASCAT

Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

23824729

2013

dbSNP:

rs12042903

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

MMACHC;CCDC163

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

29844566

2018

dbSNP:

rs546099787

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

MMACHC;CCDC163

CUI:	C0268583
Disease:

Methylmalonic acidemia

0.010

GeneticVariation

BEFREE

The final diagnosis was aHUS induced by inherited methylmalonic acidemia (MMACHC heterozygous mutation exonl: c. 80A >G, c. 609G >A).

29068997

2017

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

20219402

2010

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function.

22642810

2012

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

16311595

2006

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

20924684

2010

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function.

22642810

2012

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.

19700356

2009

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

20631720

2010

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

CLINVAR

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

19370762

2009

dbSNP:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

GeneticVariation

UNIPROT

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

16311595

2006

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:

rs121918240

Entrez Id:	25974
Gene Symbol:	MMACHC

MMACHC

CUI:	C1848561
Disease:

Methylmalonic acidemia with homocystinuria

0.800

CausalMutation

CLINVAR

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