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17 genes annotated in human

ohtahara syndrome

DOID:0050709

A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.

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Name	Description	Probability
SPTBN1	spectrin, beta, non-erythrocytic 1	0.430
XRCC1	X-ray repair complementing defective repair in Chinese hamster cells 1	0.165
LIG3	ligase III, DNA, ATP-dependent	0.057
ACTG1	actin, gamma 1	0.024
APTX	aprataxin	0.019
FANCA	Fanconi anemia, complementation group A	0.019
XRCC4	X-ray repair complementing defective repair in Chinese hamster cells 4	0.018
ZBTB5	zinc finger and BTB domain containing 5	0.015
PLCB1	phospholipase C, beta 1 (phosphoinositide-specific)	0.003
SCN8A	sodium channel, voltage gated, type VIII, alpha subunit	0.003
STXBP1	syntaxin binding protein 1	0.003
SCN2A	sodium channel, voltage-gated, type II, alpha subunit	0.003
ARHGEF9	Cdc42 guanine nucleotide exchange factor (GEF) 9	0.003
GNAO1	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	0.003
PCDH19	protocadherin 19	0.002
KCNQ2	potassium voltage-gated channel, KQT-like subfamily, member 2	0.002
CDKL5	cyclin-dependent kinase-like 5	0.002
SPTAN1	spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)	0.002
SLC25A22	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	0.002
ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	0.002
TBC1D24	TBC1 domain family, member 24	0.002
KCNT1	potassium channel, subfamily T, member 1	0.002
ARX	aristaless related homeobox	0.002
KIAA0467	KIAA0467	0.002
PNKP	polynucleotide kinase 3'-phosphatase	0.001