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Homo sapiens

32 genes annotated in human

electroclinical syndrome

DOID:0050701

An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.

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Gene Predictions

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Name	Description	Probability	Func Analog Organism
XRCC1	X-ray repair complementing defective repair in Chinese hamster cells 1	0.998
EVL	Enah/Vasp-like	0.894
DYRK1A	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	0.855	Human
SPTBN1	spectrin, beta, non-erythrocytic 1	0.854
DLG4	discs, large homolog 4 (Drosophila)	0.618
LIG3	ligase III, DNA, ATP-dependent	0.504
GNS	glucosamine (N-acetyl)-6-sulfatase	0.485
APTX	aprataxin	0.451
PLEKHA5	pleckstrin homology domain containing, family A member 5	0.414
FANCC	Fanconi anemia, complementation group C	0.413
ACTG1	actin, gamma 1	0.362
ZBTB5	zinc finger and BTB domain containing 5	0.359
FANCE	Fanconi anemia, complementation group E	0.353
CTSB	cathepsin B	0.287
XRCC4	X-ray repair complementing defective repair in Chinese hamster cells 4	0.266
DDX24	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	0.224
NPC2	Niemann-Pick disease, type C2	0.181
FANCG	Fanconi anemia, complementation group G	0.174
NOP10	NOP10 ribonucleoprotein homolog (yeast)	0.172
LZTS2	leucine zipper, putative tumor suppressor 2	0.165
KCNA1	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	0.146
SNAP25	synaptosomal-associated protein, 25kDa	0.144
CPD	carboxypeptidase D	0.139
STX5	syntaxin 5	0.138
EPM2A	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	0.133
PPP1R3C	protein phosphatase 1, regulatory (inhibitor) subunit 3C	0.121
PTOV1	prostate tumor overexpressed 1	0.111
PPP1R3F	protein phosphatase 1, regulatory (inhibitor) subunit 3F	0.108
LAMP2	lysosomal-associated membrane protein 2	0.102
TRAM1	translocation associated membrane protein 1	0.094
PRKG2	protein kinase, cGMP-dependent, type II	0.092
APLF	aprataxin and PNKP like factor	0.080
PSAP	prosaposin	0.076
ZNF512B	zinc finger protein 512B	0.072
GPHN	gephyrin	0.072
ATP2B2	ATPase, Ca++ transporting, plasma membrane 2	0.069
LIG4	ligase IV, DNA, ATP-dependent	0.069
DCAF7	DDB1 and CUL4 associated factor 7	0.069
CACNA1B	calcium channel, voltage-dependent, N type, alpha 1B subunit	0.066
CXCR5	chemokine (C-X-C motif) receptor 5	0.059
IL13RA1	interleukin 13 receptor, alpha 1	0.059
YIPF5	Yip1 domain family, member 5	0.059
RANBP9	RAN binding protein 9	0.058
CD164	CD164 molecule, sialomucin	0.058
TMEM30A	transmembrane protein 30A	0.053
SEL1L	sel-1 suppressor of lin-12-like (C. elegans)	0.053
VAMP3	vesicle-associated membrane protein 3 (cellubrevin)	0.050
DCTN2	dynactin 2 (p50)	0.049
CTSO	cathepsin O	0.049
DLGAP1	discs, large (Drosophila) homolog-associated protein 1	0.049
ATAD3B	ATPase family, AAA domain containing 3B	0.048
ATP6AP2	ATPase, H+ transporting, lysosomal accessory protein 2	0.045
GRIN2B	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	0.045	Human
FANCA	Fanconi anemia, complementation group A	0.042
ERCC1	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	0.040
NHEJ1	nonhomologous end-joining factor 1	0.040
ANXA2	annexin A2	0.040
DVL2	dishevelled, dsh homolog 2 (Drosophila)	0.039
GRIN2C	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	0.039	Human
ATAD3A	ATPase family, AAA domain containing 3A	0.038
TSSC4	tumor suppressing subtransferable candidate 4	0.037
KCNQ3	potassium voltage-gated channel, KQT-like subfamily, member 3	0.036
TSPO	translocator protein (18kDa)	0.036
PRKACA	protein kinase, cAMP-dependent, catalytic, alpha	0.036
S100A11	S100 calcium binding protein A11	0.035
CD46	CD46 molecule, complement regulatory protein	0.034
KCNB1	potassium voltage-gated channel, Shab-related subfamily, member 1	0.033
FANCF	Fanconi anemia, complementation group F	0.033
TPP1	tripeptidyl peptidase I	0.032
ADAM10	ADAM metallopeptidase domain 10	0.032
STX1A	syntaxin 1A (brain)	0.031
LPHN3	latrophilin 3	0.031
ATP6V1A	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	0.030
LMAN1	lectin, mannose-binding, 1	0.030
FPGS	folylpolyglutamate synthase	0.030
TM9SF2	transmembrane 9 superfamily member 2	0.030
TJP1	tight junction protein 1 (zona occludens 1)	0.028
CLCN3	chloride channel 3	0.028
HIPK2	homeodomain interacting protein kinase 2	0.027
FOXK1	forkhead box K1	0.026
KCNA4	potassium voltage-gated channel, shaker-related subfamily, member 4	0.026
GABBR2	gamma-aminobutyric acid (GABA) B receptor, 2	0.026
WDTC1	WD and tetratricopeptide repeats 1	0.026
BRSK2	BR serine/threonine kinase 2	0.026
NLGN1	neuroligin 1	0.025
NHLRC1	NHL repeat containing 1	0.025
PLEC	plectin	0.024
SKIV2L	superkiller viralicidic activity 2-like (S. cerevisiae)	0.024
SPRR2A	small proline-rich protein 2A	0.023
SEZ6L	seizure related 6 homolog (mouse)-like	0.022
ERLEC1	endoplasmic reticulum lectin 1	0.022
MPP3	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	0.021
KIF1A	kinesin family member 1A	0.021
TTR	transthyretin	0.021
USO1	USO1 vesicle docking protein homolog (yeast)	0.021
S100A10	S100 calcium binding protein A10	0.021
HTT	huntingtin	0.020
ERBB4	v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)	0.020
CANX	calnexin	0.020
CAPG	capping protein (actin filament), gelsolin-like	0.019
KCNQ2	potassium voltage-gated channel, KQT-like subfamily, member 2	0.019
APLP2	amyloid beta (A4) precursor-like protein 2	0.019
SIPA1L3	signal-induced proliferation-associated 1 like 3	0.019
KCND2	potassium voltage-gated channel, Shal-related subfamily, member 2	0.018
HNF1A	HNF1 homeobox A	0.018
GRIN1	glutamate receptor, ionotropic, N-methyl D-aspartate 1	0.018
PTGES2	prostaglandin E synthase 2	0.018
HEXB	hexosaminidase B (beta polypeptide)	0.018
RNF146	ring finger protein 146	0.018
APP	amyloid beta (A4) precursor protein	0.018
ALDH16A1	aldehyde dehydrogenase 16 family, member A1	0.018
CD63	CD63 molecule	0.017
ASAH1	N-acylsphingosine amidohydrolase (acid ceramidase) 1	0.017
CTSA	cathepsin A	0.017
SMAD9	SMAD family member 9	0.017
WDR19	WD repeat domain 19	0.017
ADD1	adducin 1 (alpha)	0.017
C6orf72	chromosome 6 open reading frame 72	0.017
FAM117A	family with sequence similarity 117, member A	0.016
PCYOX1	prenylcysteine oxidase 1	0.016
FTL	ferritin, light polypeptide	0.016
MYO18A	myosin XVIIIA	0.016
ITM2B	integral membrane protein 2B	0.016
CDH8	cadherin 8, type 2	0.015
CAPN1	calpain 1, (mu/I) large subunit	0.015
BMPR2	bone morphogenetic protein receptor, type II (serine/threonine kinase)	0.015
KCNIP2	Kv channel interacting protein 2	0.015
UBXN4	UBX domain protein 4	0.015
JPH3	junctophilin 3	0.015
SLITRK3	SLIT and NTRK-like family, member 3	0.015
ACTL6B	actin-like 6B	0.015
ABL1	c-abl oncogene 1, non-receptor tyrosine kinase	0.015
ENO2	enolase 2 (gamma, neuronal)	0.014
SIN3B	SIN3 homolog B, transcription regulator (yeast)	0.014
LGALS3	lectin, galactoside-binding, soluble, 3	0.014
PFKL	phosphofructokinase, liver	0.014
AKAP6	A kinase (PRKA) anchor protein 6	0.014
HECTD3	HECT domain containing 3	0.014
ERCC2	excision repair cross-complementing rodent repair deficiency, complementation group 2	0.014
RIPK3	receptor-interacting serine-threonine kinase 3	0.014
SEMA3C	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	0.014
GNG5	guanine nucleotide binding protein (G protein), gamma 5	0.014
PRKAA2	protein kinase, AMP-activated, alpha 2 catalytic subunit	0.013
PLCB1	phospholipase C, beta 1 (phosphoinositide-specific)	0.013
CRHR1	corticotropin releasing hormone receptor 1	0.013
POLM	polymerase (DNA directed), mu	0.013
TSTA3	tissue specific transplantation antigen P35B	0.013
GRIA2	glutamate receptor, ionotropic, AMPA 2	0.013
ASL	argininosuccinate lyase	0.013
AFF3	AF4/FMR2 family, member 3	0.013
NMNAT2	nicotinamide nucleotide adenylyltransferase 2	0.013
BCKDK	branched chain ketoacid dehydrogenase kinase	0.013
ATP2B3	ATPase, Ca++ transporting, plasma membrane 3	0.013
LAMP1	lysosomal-associated membrane protein 1	0.013
SCRT1	scratch homolog 1, zinc finger protein (Drosophila)	0.013
KDELR2	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	0.013
CNNM1	cyclin M1	0.013
ECEL1	endothelin converting enzyme-like 1	0.013
MAP3K1	mitogen-activated protein kinase kinase kinase 1	0.012
GJA1	gap junction protein, alpha 1, 43kDa	0.012
TMEM214	transmembrane protein 214	0.012
NPIP	nuclear pore complex interacting protein	0.012
EPB49	erythrocyte membrane protein band 4.9 (dematin)	0.012
ATP1A3	ATPase, Na+/K+ transporting, alpha 3 polypeptide	0.012
RAB6B	RAB6B, member RAS oncogene family	0.012
GNAO1	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	0.012
GBF1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	0.012
SERINC3	serine incorporator 3	0.012
NPTXR	neuronal pentraxin receptor	0.012
RNF13	ring finger protein 13	0.012
CLN5	ceroid-lipofuscinosis, neuronal 5	0.012
NTNG1	netrin G1	0.012
SYT5	synaptotagmin V	0.012
DLG2	discs, large homolog 2 (Drosophila)	0.012
SLC17A5	solute carrier family 17 (anion/sugar transporter), member 5	0.012
KIAA0556	KIAA0556	0.012
USP20	ubiquitin specific peptidase 20	0.012
HRH3	histamine receptor H3	0.012
GRIN2D	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	0.012	Human
TNIK	TRAF2 and NCK interacting kinase	0.012
USP11	ubiquitin specific peptidase 11	0.011
GRIA3	glutamate receptor, ionotrophic, AMPA 3	0.011
CFL2	cofilin 2 (muscle)	0.011
SOX5	SRY (sex determining region Y)-box 5	0.011
SFXN3	sideroflexin 3	0.011
TECPR1	tectonin beta-propeller repeat containing 1	0.011
CLSTN1	calsyntenin 1	0.011
TAZ	tafazzin	0.011
SLIT1	slit homolog 1 (Drosophila)	0.011
GTF2F1	general transcription factor IIF, polypeptide 1, 74kDa	0.011
PRKCE	protein kinase C, epsilon	0.011
RUNDC3A	RUN domain containing 3A	0.011
MAVS	mitochondrial antiviral signaling protein	0.011
AHSA2	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	0.011
SPRY2	sprouty homolog 2 (Drosophila)	0.010
ABI2	abl-interactor 2	0.010
KCNJ4	potassium inwardly-rectifying channel, subfamily J, member 4	0.010
MFSD10	major facilitator superfamily domain containing 10	0.010
GIT1	G protein-coupled receptor kinase interacting ArfGAP 1	0.010
SNCA	synuclein, alpha (non A4 component of amyloid precursor)	0.010
LEPROT	leptin receptor overlapping transcript	0.010
CBR1	carbonyl reductase 1	0.010
LASS1	LAG1 homolog, ceramide synthase 1	0.010
NUDT3	nudix (nucleoside diphosphate linked moiety X)-type motif 3	0.010
GYS1	glycogen synthase 1 (muscle)	0.010
CDC42BPB	CDC42 binding protein kinase beta (DMPK-like)	0.010
DCX	doublecortin	0.010
CNKSR2	connector enhancer of kinase suppressor of Ras 2	0.010
GABARAP	GABA(A) receptor-associated protein	0.010
INA	internexin neuronal intermediate filament protein, alpha	0.010
KCTD13	potassium channel tetramerisation domain containing 13	0.010
DAGLA	diacylglycerol lipase, alpha	0.010
IFT88	intraflagellar transport 88 homolog (Chlamydomonas)	0.010
GRIN2A	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	0.010
MAP3K3	mitogen-activated protein kinase kinase kinase 3	0.010
GMPPB	GDP-mannose pyrophosphorylase B	0.010
PAK3	p21 protein (Cdc42/Rac)-activated kinase 3	0.010
ATOX1	ATX1 antioxidant protein 1 homolog (yeast)	0.010
FSD1	fibronectin type III and SPRY domain containing 1	0.010
ARL6IP5	ADP-ribosylation-like factor 6 interacting protein 5	0.010
SCN8A	sodium channel, voltage gated, type VIII, alpha subunit	0.010
SCN2A	sodium channel, voltage-gated, type II, alpha subunit	0.009
STXBP1	syntaxin binding protein 1	0.007
CDKL5	cyclin-dependent kinase-like 5	0.006
SCN1A	sodium channel, voltage-gated, type I, alpha subunit	0.006
SCN9A	sodium channel, voltage-gated, type IX, alpha subunit	0.006
PRICKLE2	prickle homolog 2 (Drosophila)	0.005
SPTAN1	spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)	0.005
ARHGEF9	Cdc42 guanine nucleotide exchange factor (GEF) 9	0.005
PCDH19	protocadherin 19	0.005
KCTD7	potassium channel tetramerisation domain containing 7	0.005
PRICKLE1	prickle homolog 1 (Drosophila)	0.005
ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	0.005
PRRT2	proline-rich transmembrane protein 2	0.004
TBC1D24	TBC1 domain family, member 24	0.004
KCNT1	potassium channel, subfamily T, member 1	0.004
EFHC1	EF-hand domain (C-terminal) containing 1	0.004
ARX	aristaless related homeobox	0.004
SLC25A22	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	0.004
GOSR2	golgi SNAP receptor complex member 2	0.004
CSTB	cystatin B (stefin B)	0.003
DYRK1B	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	0.003
SCARB2	scavenger receptor class B, member 2	0.003
KIAA0467	KIAA0467	0.003
PNKP	polynucleotide kinase 3'-phosphatase	0.001