Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 GeneticVariation CLINVAR

Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 2312
Gene Symbol: FLG
FLG
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 57017
Gene Symbol: COQ9
COQ9
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 GeneticVariation CLINVAR

Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation CLINVAR