Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.300 Biomarker phenotype CTD_human Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. 29483653 2018
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 10087
Gene Symbol: CERT1
CERT1
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018