Hyperekplexia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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Genes

266 genes co-occuring with the disease Hyperekplexia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
GLRA1 glycine receptor, alpha 1 4.0
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 3.883
GLRB glycine receptor, beta 3.783
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 3.363
GPHN gephyrin 3.335
GLRA3 glycine receptor, alpha 3 2.796
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2 2.773
DPP10 dipeptidyl-peptidase 10 (non-functional) 2.686
DPP6 dipeptidyl-peptidase 6 2.648
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 2.604
GLRA2 glycine receptor, alpha 2 2.487
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 2.365
AMPH amphiphysin 2.364
IGLON5 IgLON family member 5 2.297
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 2.292
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2 2.259
BIN1 bridging integrator 1 2.21
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 2.198
LGI1 leucine-rich, glioma inactivated 1 2.134
CNTNAP2 contactin associated protein-like 2 2.11
DPYSL5 dihydropyrimidinase-like 5 2.047
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 2.022
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 2.0
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 1.979
SLC6A17 solute carrier family 6 (neutral amino acid transporter), member 17 1.953
SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 1.945
PNMA2 paraneoplastic Ma antigen 2 1.885
SPIN4 spindlin family, member 4 1.877
NLGN2 neuroligin 2 1.877
PACSIN1 protein kinase C and casein kinase substrate in neurons 1 1.793
MOCS2 molybdenum cofactor synthesis 2 1.73
MOCS1 molybdenum cofactor synthesis 1 1.716
ADAM22 ADAM metallopeptidase domain 22 1.716
SCN8A sodium channel, voltage gated, type VIII alpha subunit 1.707
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 1.704
PRRT2 proline-rich transmembrane protein 2 1.698
SLC6A14 solute carrier family 6 (amino acid transporter), member 14 1.696
HAPLN1 hyaluronan and proteoglycan link protein 1 1.695
SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 1.672
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 1.669
TSPAN16 tetraspanin 16 1.665
LNX2 ligand of numb-protein X 2 1.66
SCN1A sodium channel, voltage gated, type I alpha subunit 1.656
SDCBP2 syndecan binding protein (syntenin) 2 1.648
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 1.643
SLC6A12 solute carrier family 6 (neurotransmitter transporter), member 12 1.641
ZACN zinc activated ligand-gated ion channel 1.64
ARHGAP26 Rho GTPase activating protein 26 1.628
CANX calnexin 1.62
ADAM23 ADAM metallopeptidase domain 23 1.603
ASNS asparagine synthetase (glutamine-hydrolyzing) 1.597
SLC45A1 solute carrier family 45, member 1 1.582
GLYR1 glyoxylate reductase 1 homolog (Arabidopsis) 1.582
SEC24B SEC24 family member B 1.579
SGCE sarcoglycan, epsilon 1.575
SLC5A6 solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 1.566
CLCN1 chloride channel, voltage-sensitive 1 1.565
SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11 1.562
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1.555
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 1.551
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) 1.545
BRAT1 BRCA1-associated ATM activator 1 1.544
SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18 1.54
MOCS3 molybdenum cofactor synthesis 3 1.534
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 1.53
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 1.53
SOX1 SRY (sex determining region Y)-box 1 1.518
GRM1 glutamate receptor, metabotropic 1 1.514
DNER delta/notch-like EGF repeat containing 1.513
ARHGAP10 Rho GTPase activating protein 10 1.51
PNKD paroxysmal nonkinesigenic dyskinesia 1.502
LGI2 leucine-rich repeat LGI family, member 2 1.499
SUOX sulfite oxidase 1.485
PRKCG protein kinase C, gamma 1.481
SLC30A3 solute carrier family 30 (zinc transporter), member 3 1.477
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 1.472
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 1.469
SEC24D SEC24 family member D 1.467
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 1.461
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 1.46
SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13 1.454
PLEK2 pleckstrin 2 1.451
SCN2A sodium channel, voltage gated, type II alpha subunit 1.447
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 1.445
PLEK pleckstrin 1.443
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 1.433
ATAD1 ATPase family, AAA domain containing 1 1.432
MCF2 MCF.2 cell line derived transforming sequence 1.431
HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 1.429
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 1.423
GRIA4 glutamate receptor, ionotropic, AMPA 4 1.423
SLC6A16 solute carrier family 6, member 16 1.42
GRM5 glutamate receptor, metabotropic 5 1.403
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 1.39
SLC7A14 solute carrier family 7, member 14 1.39
SLC49A3 solute carrier family 49 member 3 1.383
ADAM28 ADAM metallopeptidase domain 28 1.383
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 1.382
ADCY5 adenylate cyclase 5 1.38
HOMER3 homer scaffolding protein 3 1.378
SLC10A5 solute carrier family 10, member 5 1.378
CDC42 cell division cycle 42 1.378
SDCBP syndecan binding protein (syntenin) 1.373
ARHGAP28 Rho GTPase activating protein 28 1.369
MED11 mediator complex subunit 11 1.367
PVALB parvalbumin 1.358
SLC12A9 solute carrier family 12, member 9 1.354
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 1.352
LHFPL4 lipoma HMGIC fusion partner-like 4 1.348
GRIA1 glutamate receptor, ionotropic, AMPA 1 1.344
SLC35A4 solute carrier family 35, member A4 1.343
LTO1 LTO1 maturation factor of ABCE1 1.342
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1.334
LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase 1.334
SLC35C2 solute carrier family 35 (GDP-fucose transporter), member C2 1.326
ZIC4 Zic family member 4 1.326
DLG4 discs, large homolog 4 (Drosophila) 1.323
SLC35E1 solute carrier family 35, member E1 1.321
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 1.319
ATP13A5 ATPase type 13A5 1.319
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3 1.314
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 1.311
SLC35A5 solute carrier family 35, member A5 1.31
SCN9A sodium channel, voltage gated, type IX alpha subunit 1.31
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 1.308
SLC44A5 solute carrier family 44, member 5 1.306
SLC35B3 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 1.303
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 1.303
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 1.302
GRIA2 glutamate receptor, ionotropic, AMPA 2 1.301
GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 1.293
KIAA0513 KIAA0513 1.292
RABIF RAB interacting factor 1.289
HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 1.283
SLC35D2 solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 1.281
ARHGAP12 Rho GTPase activating protein 12 1.278
SHANK2 SH3 and multiple ankyrin repeat domains 2 1.263
GRID2 glutamate receptor, ionotropic, delta 2 1.262
LMAN1 lectin, mannose-binding, 1 1.261
SLC35B1 solute carrier family 35, member B1 1.26
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.26
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 1.258
STXBP1 syntaxin binding protein 1 1.255
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 1.254
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) 1.251
CNTN2 contactin 2 (axonal) 1.246
GRIA3 glutamate receptor, ionotropic, AMPA 3 1.245
SLC10A4 solute carrier family 10, member 4 1.232
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 1.23
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) 1.23
SLC44A3 solute carrier family 44, member 3 1.228
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 1.223
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 1.215
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1.213
NRXN1 neurexin 1 1.206
FIBIN fin bud initiation factor homolog (zebrafish) 1.203
SLC15A5 solute carrier family 15, member 5 1.199
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 1.199
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 1.199
RHOQ ras homolog family member Q 1.191
SLC35B4 solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 1.188
ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 1.186
SLC35D3 solute carrier family 35, member D3 1.174
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.173
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 1.171
CEP295NL CEP295 N-terminal like 1.17
ATP13A1 ATPase type 13A1 1.17
KCNC1 potassium channel, voltage gated Shaw related subfamily C, member 1 1.168
NRXN2 neurexin 2 1.166
ARHGAP21 Rho GTPase activating protein 21 1.166
PGBD5 piggyBac transposable element derived 5 1.162
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 1.159
SLC35F1 solute carrier family 35, member F1 1.158
NOVA2 neuro-oncological ventral antigen 2 1.157
MED22 mediator complex subunit 22 1.157
MCHR1 melanin-concentrating hormone receptor 1 1.155
SLC10A6 solute carrier family 10 (sodium/bile acid cotransporter), member 6 1.146
ATP13A4 ATPase type 13A4 1.145
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 1.144
SLC43A1 solute carrier family 43 (amino acid system L transporter), member 1 1.144
DPYSL3 dihydropyrimidinase-like 3 1.143
BCAN brevican 1.143
SLC4A3 solute carrier family 4 (anion exchanger), member 3 1.14
SLC38A7 solute carrier family 38, member 7 1.135
CCDC54 coiled-coil domain containing 54 1.134
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 1.134
SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 1.13
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 1.129
PDXDC1 pyridoxal-dependent decarboxylase domain containing 1 1.128
SEC24C SEC24 family member C 1.128
ARHGAP15 Rho GTPase activating protein 15 1.128
COIL coilin 1.127
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 1.127
SYDE1 synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 1.125
SLC26A7 solute carrier family 26 (anion exchanger), member 7 1.123
TBC1D24 TBC1 domain family, member 24 1.12
VWA5A von Willebrand factor A domain containing 5A 1.116
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 1.116
DEPDC5 DEP domain containing 5 1.114
SERINC2 serine incorporator 2 1.112
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 1.111
GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C 1.11
TPO thyroid peroxidase 1.108
SRR serine racemase 1.107
SLC10A3 solute carrier family 10, member 3 1.1
SLC19A3 solute carrier family 19 (thiamine transporter), member 3 1.099
TPM3 tropomyosin 3 1.099
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 1.098
TSEN54 TSEN54 tRNA splicing endonuclease subunit 1.097
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 1.096
ADRA1B adrenoceptor alpha 1B 1.095
NALCN sodium leak channel, non selective 1.094
MIPEP mitochondrial intermediate peptidase 1.089
SPTBN2 spectrin, beta, non-erythrocytic 2 1.089
SLC9B2 solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 1.086
SLC43A3 solute carrier family 43, member 3 1.085
KCTD17 potassium channel tetramerization domain containing 17 1.081
SLC10A7 solute carrier family 10, member 7 1.081
TMC2 transmembrane channel-like 2 1.078
FNIP2 folliculin interacting protein 2 1.078
NLGN4X neuroligin 4, X-linked 1.078
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 1.076
OR51I1 olfactory receptor, family 51, subfamily I, member 1 1.075
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 1.073
GOSR2 golgi SNAP receptor complex member 2 1.072
LBX1 ladybird homeobox 1 1.07
HTR3E 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 1.062
KLHL11 kelch-like family member 11 1.062
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.056
PNMA1 paraneoplastic Ma antigen 1 1.055
MORF4L2 mortality factor 4 like 2 1.055
RHBG Rh family, B glycoprotein (gene/pseudogene) 1.053
DNAH8 dynein, axonemal, heavy chain 8 1.049
MPDZ multiple PDZ domain protein 1.049
ADRA1D adrenoceptor alpha 1D 1.045
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 1.045
SLC16A5 solute carrier family 16 (monocarboxylate transporter), member 5 1.041
SLC17A9 solute carrier family 17 (vesicular nucleotide transporter), member 9 1.04
ZNF736 zinc finger protein 736 1.04
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 1.036
OR4C16 olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 1.036
VASP vasodilator-stimulated phosphoprotein 1.036
EFNB3 ephrin-B3 1.035
ARHGAP29 Rho GTPase activating protein 29 1.031
GFAP glial fibrillary acidic protein 1.031
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 1.029
MOG myelin oligodendrocyte glycoprotein 1.026
DLG3 discs, large homolog 3 (Drosophila) 1.026
TGM6 transglutaminase 6 1.026
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 1.022
LHFPL3 lipoma HMGIC fusion partner-like 3 1.021
SLC30A4 solute carrier family 30 (zinc transporter), member 4 1.018
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 1.017
ARHGAP17 Rho GTPase activating protein 17 1.016
RER1 retention in endoplasmic reticulum sorting receptor 1 1.015
PDE10A phosphodiesterase 10A 1.014
ARHGAP9 Rho GTPase activating protein 9 1.012
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6 1.01
SLC43A2 solute carrier family 43 (amino acid system L transporter), member 2 1.008
GOLPH3 golgi phosphoprotein 3 (coat-protein) 1.004
DRD2 dopamine receptor D2 1.004
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 1.004
SLC52A1 solute carrier family 52 (riboflavin transporter), member 1 1.004
KCTD7 potassium channel tetramerization domain containing 7 1.003
AMT aminomethyltransferase 1.002
SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 1.001