Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
malate dehydrogenase 2 0.595 0.731 6.7E-03
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 3
Entrez Id: 57017
Gene Symbol: COQ9
COQ9
coenzyme Q9 0.700 0.423 5.5E-06
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 3
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
tyrosyl-tRNA synthetase 2 0.663 0.462 3.0E-11
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 7
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 0 1