DisGeNET - a database of gene-disease associations

MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5

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:

rs375002796

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C4479208
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51

0.800

GeneticVariation

UNIPROT

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs782308462

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C4479208
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51

0.800

GeneticVariation

UNIPROT

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519566

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C4479208
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057519566

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C4479208
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51

0.800

GeneticVariation

UNIPROT

dbSNP:

rs375002796

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C4479208
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51

0.800

CausalMutation

CLINVAR

dbSNP:

rs782308462

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C4479208
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057519566

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C0557874
Disease:

Global developmental delay

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519566

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1963101
Disease:

Encephalopathy, CTCAE 3.0

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519566

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1096063
Disease:

Drug Resistant Epilepsy

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519566

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1856408
Disease:

Infantile encephalopathy

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519566

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C2315100
Disease:

Pediatric failure to thrive

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519566

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1858120
Disease:

Generalized hypotonia

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519567

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1856408
Disease:

Infantile encephalopathy

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519567

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1858120
Disease:

Generalized hypotonia

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519567

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1096063
Disease:

Drug Resistant Epilepsy

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519567

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C0557874
Disease:

Global developmental delay

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs375002796

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C0557874
Disease:

Global developmental delay

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs375002796

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1858120
Disease:

Generalized hypotonia

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs375002796

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1096063
Disease:

Drug Resistant Epilepsy

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs375002796

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1963101
Disease:

Encephalopathy, CTCAE 3.0

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs375002796

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C2315100
Disease:

Pediatric failure to thrive

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs375002796

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1856408
Disease:

Infantile encephalopathy

0.700

CausalMutation

CLINVAR

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

27989324

2017

dbSNP:

rs1057519567

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C4479208
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51

0.700

CausalMutation

CLINVAR

dbSNP:

rs537742207

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.010

GeneticVariation

BEFREE

An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.

31444388

2019

dbSNP:

rs537742207

Entrez Id:	4191
Gene Symbol:	MDH2

MDH2

CUI:	C1285162
Disease:

Degenerative disorder

0.010

GeneticVariation

BEFREE

The hsp60 mutations D3G and V72I impair its ability to fold mitochondrial substrates leading to abnormal ATP synthesis and the development of the MitCHAP-60 and SPG13 neuromuscular degenerative disorders.

31444388

2019