MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.800 1.000 1 2017 2017
dbSNP: rs782308462
rs782308462 		1.000 7 76054872 missense variant G/A snv 8.0E-06
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.800 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.800 0
dbSNP: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567 		0.882 0.040 7 76063554 frameshift variant G/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567 		0.882 0.040 7 76063554 frameshift variant G/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567 		0.882 0.040 7 76063554 frameshift variant G/- delins
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567 		0.882 0.040 7 76063554 frameshift variant G/- delins
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567 		0.882 0.040 7 76063554 frameshift variant G/- delins
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 0
dbSNP: rs537742207
rs537742207 		1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs537742207
rs537742207 		1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs537742207
rs537742207 		1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019