rs537742207
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
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
rs1057519566
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Pediatric failure to thrive
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs375002796
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Pediatric failure to thrive
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs537742207
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Neurodegenerative Disorders
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
rs1057519566
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Infantile encephalopathy
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs1057519567
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Infantile encephalopathy
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs375002796
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Infantile encephalopathy
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs1057519566
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Global developmental delay
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs1057519567
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Global developmental delay
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs375002796
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Global developmental delay
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs1057519566
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Generalized hypotonia
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs1057519567
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Generalized hypotonia
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs375002796
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Generalized hypotonia
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs1057519566
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
T
0.800
CausalMutation
CLINVAR
rs1057519566
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
0.800
GeneticVariation
UNIPROT
rs375002796
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
0.800
GeneticVariation
UNIPROT
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs375002796
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
T
0.800
CausalMutation
CLINVAR
rs782308462
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
0.800
GeneticVariation
UNIPROT
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs782308462
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
A
0.800
CausalMutation
CLINVAR
rs1057519567
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
T
0.700
CausalMutation
CLINVAR
rs1057519566
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Encephalopathy, CTCAE 3.0
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs375002796
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Encephalopathy, CTCAE 3.0
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs1057519566
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Drug Resistant Epilepsy
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs1057519567
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Drug Resistant Epilepsy
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017
rs375002796
×
Entrez Id:
4191
Gene Symbol:
MDH2
MDH2
Drug Resistant Epilepsy
T
0.700
CausalMutation
CLINVAR
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
27989324
2017