Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83939
Gene Symbol: EIF2A
EIF2A 		0.300 Biomarker disease GENOMICS_ENGLAND Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. 31130284 2019
Entrez Id: 26115
Gene Symbol: TANC2
TANC2 		0.300 Biomarker disease GENOMICS_ENGLAND Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 31616000 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.300 Biomarker disease GENOMICS_ENGLAND PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. 31148362 2019
Entrez Id: 392636
Gene Symbol: AGMO
AGMO 		0.300 Biomarker disease GENOMICS_ENGLAND Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. 31555905 2019
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A 		0.300 Biomarker disease GENOMICS_ENGLAND De Novo and Inherited SETD1A Variants in Early-onset Epilepsy. 31197650 2019
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25 		0.300 Biomarker disease CTD_human In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association. 29942082 2018
Entrez Id: 343450
Gene Symbol: KCNT2
KCNT2 		0.300 Biomarker disease GENOMICS_ENGLAND De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. 29740868 2018
Entrez Id: 10087
Gene Symbol: CERT1
CERT1 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971 2017
Entrez Id: 392636
Gene Symbol: AGMO
AGMO 		0.300 Biomarker disease GENOMICS_ENGLAND The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family. 27000257 2016
Entrez Id: 460
Gene Symbol: ASTN1
ASTN1 		0.300 Biomarker disease GENOMICS_ENGLAND Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
Entrez Id: 124454
Gene Symbol: EARS2
EARS2 		0.300 Biomarker disease GENOMICS_ENGLAND Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. 22492562 2012
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.300 Biomarker disease CTD_human Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. 20502679 2010
Entrez Id: 3611
Gene Symbol: ILK
ILK 		0.300 Therapeutic disease CTD_human Together with ILK expression and Akt activation, these molecules could be involved in hippocampal neuroprotection in epilepsy. 20064661 2010
Entrez Id: 6415
Gene Symbol: SELENOW
SELENOW 		0.300 Biomarker disease CTD_human Changes in the expression of selenoproteins in mesial temporal lobe epilepsy patients. 19499324 2009
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		0.300 Biomarker disease CTD_human Three patients carrying FOLR1 mutations developed progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF). 19732866 2009
Entrez Id: 2081
Gene Symbol: ERN1
ERN1 		0.300 Biomarker disease CTD_human [Effects of edaravone on IRE1 mRNA expression and neuronal apoptosis in the hippocampus of rats with status convulsivus]. 19558813 2009
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1 		0.300 Biomarker disease CTD_human Changes in the expression of selenoproteins in mesial temporal lobe epilepsy patients. 19499324 2009
Entrez Id: 8404
Gene Symbol: SPARCL1
SPARCL1 		0.300 Biomarker disease CTD_human The extracellular matrix protein SC1/hevin localizes to excitatory synapses following status epilepticus in the rat lithium-pilocarpine seizure model. 18488994 2008
Entrez Id: 1128
Gene Symbol: CHRM1
CHRM1 		0.300 Biomarker disease CTD_human Acetylcholine-induced seizure-like activity and modified cholinergic gene expression in chronically epileptic rats. 18333967 2008
Entrez Id: 7416
Gene Symbol: VDAC1
VDAC1 		0.300 Biomarker disease CTD_human Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics. 17893921 2007
Entrez Id: 7417
Gene Symbol: VDAC2
VDAC2 		0.300 Biomarker disease CTD_human Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics. 17893921 2007