ohtahara syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (Human Disease Ontology, DOID_0050709)
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Genes

29 genes co-occuring with the disease ohtahara syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
STXBP1 syntaxin binding protein 1 2.9301
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 2.08359
CSNK1G1 casein kinase 1, gamma 1 1.89499
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q 1.75051
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 1.71408
ARX aristaless related homeobox 1.56045
SPTAN1 spectrin, alpha, non-erythrocytic 1 1.55158
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 1.35071
SCN2A sodium channel, voltage gated, type II alpha subunit 1.33414
KCNT1 potassium channel, sodium activated subfamily T, member 1 1.27781
CDKL5 cyclin-dependent kinase-like 5 1.2356
PNKP polynucleotide kinase 3'-phosphatase 1.18324
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 1.09965
PNPO pyridoxamine 5'-phosphate oxidase 1.08705
PCDH19 protocadherin 19 1.04251
TOR1A torsin family 1, member A (torsin A) 1.04083
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 0.843392
SCN1A sodium channel, voltage gated, type I alpha subunit 0.830689
SCN1B sodium channel, voltage gated, type I beta subunit 0.799923
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.709975
BTD biotinidase 0.668345
CYLD cylindromatosis (turban tumor syndrome) 0.582384
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.533475
STX1A syntaxin 1A (brain) 0.459751
POMC proopiomelanocortin 0.446558
ERBB4 erb-b2 receptor tyrosine kinase 4 0.364824
MNX1 motor neuron and pancreas homeobox 1 0.341639
CAMP cathelicidin antimicrobial peptide 0.333949
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.272597