Entrez Id: |
56052 |
Gene Symbol: |
ALG1 |
ALG1
|
Encephalopathy, CTCAE 3.0
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
128989 |
Gene Symbol: |
TANGO2 |
TANGO2
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
51067 |
Gene Symbol: |
YARS2 |
YARS2
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
2312 |
Gene Symbol: |
FLG |
FLG
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
4204 |
Gene Symbol: |
MECP2 |
MECP2
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
7040 |
Gene Symbol: |
TGFB1 |
TGFB1
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
57017 |
Gene Symbol: |
COQ9 |
COQ9
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
285175 |
Gene Symbol: |
UNC80 |
UNC80
|
Encephalopathy, CTCAE 3.0
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
10059 |
Gene Symbol: |
DNM1L |
DNM1L
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
339400 |
Gene Symbol: |
FLG-AS1 |
FLG-AS1
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
84231 |
Gene Symbol: |
TRAF7 |
TRAF7
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
4297 |
Gene Symbol: |
KMT2A |
KMT2A
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
23233 |
Gene Symbol: |
EXOC6B |
EXOC6B
|
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: |
23233 |
Gene Symbol: |
EXOC6B |
EXOC6B
|
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: |
4191 |
Gene Symbol: |
MDH2 |
MDH2
|
Encephalopathy, CTCAE 3.0
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
|
27989324 |
2017 |