Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionsodium ion binding

SCN1A SCN2A SCN3A SCN8A

1.99e-0714774GO:0031402
GeneOntologyMolecularFunctionvoltage-gated sodium channel activity

SCN1A SCN2A SCN3A SCN8A

2.86e-0626774GO:0005248
GeneOntologyMolecularFunctionalkali metal ion binding

SCN1A SCN2A SCN3A SCN8A

2.86e-0626774GO:0031420
GeneOntologyMolecularFunctionsodium channel activity

SCN1A SCN2A SCN3A SCN8A

4.81e-0552774GO:0005272
GeneOntologyMolecularFunctionchannel activity

SLC12A6 SCN1A SCN2A SCN3A SCN8A GSDMA GRIN2A KCNIP2 RYR1

1.85e-04525779GO:0015267
GeneOntologyMolecularFunctionpassive transmembrane transporter activity

SLC12A6 SCN1A SCN2A SCN3A SCN8A GSDMA GRIN2A KCNIP2 RYR1

1.87e-04526779GO:0022803
GeneOntologyMolecularFunctionbeta-N-acetylhexosaminidase activity

HEXA HEXB

2.18e-046772GO:0004563
GeneOntologyMolecularFunctionmonoatomic cation channel activity

SCN1A SCN2A SCN3A SCN8A GRIN2A KCNIP2 RYR1

3.56e-04343777GO:0005261
GeneOntologyMolecularFunctionmetal ion transmembrane transporter activity

SLC12A6 SCN1A SCN2A SCN3A SCN8A GRIN2A KCNIP2 RYR1

4.20e-04465778GO:0046873
GeneOntologyMolecularFunctionvoltage-gated monoatomic ion channel activity

SCN1A SCN2A GRIN2A KCNIP2 RYR1

6.92e-04182775GO:0005244
GeneOntologyMolecularFunctionvoltage-gated channel activity

SCN1A SCN2A GRIN2A KCNIP2 RYR1

7.27e-04184775GO:0022832
GeneOntologyBiologicalProcessregulation of termination of DNA-templated transcription

ZMPSTE24 SCAF8 WNK1

9.54e-076763GO:0031554
GeneOntologyBiologicalProcessbehavior

HEXA HEXB ZMPSTE24 NPS SCN1A SCN2A SCN3A TLR2 SCN8A CLSTN2 GPR171 GRIN2A MYO15A PMCH

4.03e-068917614GO:0007610
GeneOntologyBiologicalProcessmembrane depolarization during action potential

SCN1A SCN2A SCN3A SCN8A

9.17e-0636764GO:0086010
GeneOntologyBiologicalProcessaction potential

NPS SCN1A SCN2A SCN3A SCN8A GRIN2A KCNIP2

9.31e-06201767GO:0001508
GeneOntologyBiologicalProcesscardiac muscle cell action potential

SCN1A SCN2A SCN3A SCN8A KCNIP2

1.74e-0587765GO:0086001
GeneOntologyBiologicalProcesssensory perception of mechanical stimulus

HEXA HEXB LRIG2 SCN1A SCN8A GRIN2A MYO15A

2.77e-05238767GO:0050954
GeneOntologyBiologicalProcessadult walking behavior

HEXA ZMPSTE24 SCN1A SCN8A

3.45e-0550764GO:0007628
GeneOntologyBiologicalProcesstransmission of nerve impulse

SCN1A SCN2A SCN3A SCN8A PRX

5.87e-05112765GO:0019226
GeneOntologyBiologicalProcesswalking behavior

HEXA ZMPSTE24 SCN1A SCN8A

7.10e-0560764GO:0090659
GeneOntologyBiologicalProcessregulation of termination of RNA polymerase II transcription

SCAF8 WNK1

8.00e-054762GO:1904594
GeneOntologyBiologicalProcesscardiac muscle cell action potential involved in contraction

SCN1A SCN2A SCN3A SCN8A

8.07e-0562764GO:0086002
GeneOntologyBiologicalProcesslocomotory behavior

HEXA HEXB ZMPSTE24 SCN1A SCN8A GRIN2A MYO15A

8.47e-05284767GO:0007626
GeneOntologyBiologicalProcessneuronal action potential

SCN1A SCN2A SCN3A SCN8A

8.60e-0563764GO:0019228
GeneOntologyBiologicalProcesschloride ion homeostasis

CKB SLC12A6 WNK1

1.04e-0425763GO:0055064
GeneOntologyBiologicalProcessmyelination

HEXA HEXB SCN2A TLR2 SCN8A PRX

1.13e-04206766GO:0042552
GeneOntologyBiologicalProcessheart contraction

ZMPSTE24 SCN1A SCN2A SCN3A SCN8A KCNIP2 PMCH

1.14e-04298767GO:0060047
GeneOntologyBiologicalProcessaxon ensheathment

HEXA HEXB SCN2A TLR2 SCN8A PRX

1.22e-04209766GO:0008366
GeneOntologyBiologicalProcessensheathment of neurons

HEXA HEXB SCN2A TLR2 SCN8A PRX

1.22e-04209766GO:0007272
GeneOntologyBiologicalProcessdermatan sulfate catabolic process

HEXA HEXB

1.33e-045762GO:0030209
GeneOntologyBiologicalProcessheart process

ZMPSTE24 SCN1A SCN2A SCN3A SCN8A KCNIP2 PMCH

1.43e-04309767GO:0003015
GeneOntologyBiologicalProcessmonoatomic anion homeostasis

CKB SLC12A6 WNK1

1.47e-0428763GO:0055081
GeneOntologyBiologicalProcessDNA-templated transcription termination

ZMPSTE24 SCAF8 WNK1

2.65e-0434763GO:0006353
GeneOntologyBiologicalProcessganglioside catabolic process

HEXA HEXB

2.78e-047762GO:0006689
GeneOntologyBiologicalProcesscardiac muscle cell contraction

SCN1A SCN2A SCN3A SCN8A

3.88e-0493764GO:0086003
GeneOntologyBiologicalProcessRNA export from nucleus

NUP188 THOC2 WNK1 PCID2

4.37e-0496764GO:0006405
GeneOntologyBiologicalProcessdermatan sulfate metabolic process

HEXA HEXB

5.92e-0410762GO:0030205
GeneOntologyBiologicalProcesssensory perception of pain

SCN1A GPR171 GRIN2A PRX

6.14e-04105764GO:0019233
GeneOntologyBiologicalProcessmuscle contraction

CALD1 SCN1A SCN2A SCN3A SCN8A KCNIP2 RYR1

6.78e-04400767GO:0006936
GeneOntologyBiologicalProcessnerve development

LRIG2 SCN1A SCN2A SCN8A

7.07e-04109764GO:0021675
GeneOntologyBiologicalProcessregulation of mRNA export from nucleus

THOC2 WNK1

7.21e-0411762GO:0010793
GeneOntologyCellularComponentvoltage-gated sodium channel complex

SCN1A SCN2A SCN3A SCN8A

3.90e-0717774GO:0001518
GeneOntologyCellularComponentsodium channel complex

SCN1A SCN2A SCN3A SCN8A

3.77e-0629774GO:0034706
GeneOntologyCellularComponentbeta-N-acetylhexosaminidase complex

HEXA HEXB

1.34e-052772GO:1905379
GeneOntologyCellularComponentnode of Ranvier

SCN1A SCN2A SCN8A

5.24e-0520773GO:0033268
GeneOntologyCellularComponentaxon initial segment

SCN1A SCN2A SCN8A

1.64e-0429773GO:0043194
GeneOntologyCellularComponentcation channel complex

SCN1A SCN2A SCN3A SCN8A KCNIP2 RYR1

2.31e-04235776GO:0034703
GeneOntologyCellularComponentmonoatomic ion channel complex

SCN1A SCN2A SCN3A SCN8A GRIN2A KCNIP2 RYR1

4.85e-04378777GO:0034702
HumanPhenoFocal hemiclonic seizure

SCN1A SCN2A SCN8A GRIN2A

1.14e-0525304HP:0006813
HumanPhenoSimple febrile seizure

SCN1A SCN2A SCN3A SCN8A

1.56e-0527304HP:0011171
HumanPhenoFocal automatism seizure

SCN1A SCN2A SCN8A

3.91e-0512303HP:0032898
HumanPhenoGeneralized clonic seizure

SCN1A SCN2A SCN8A GRIN2A

4.01e-0534304HP:0011169
HumanPhenoHyperkinetic movements

SCN1A SCN2A GRIN2A THOC2

7.71e-0540304HP:0002487
HumanPhenoClonic seizure

SCN1A SCN2A SCN3A SCN8A GRIN2A

9.37e-0581305HP:0020221
HumanPhenoFocal clonic seizure

SCN1A SCN2A SCN8A GRIN2A

9.37e-0542304HP:0002266
HumanPhenoComplex febrile seizure

SCN1A SCN2A SCN8A

9.81e-0516303HP:0011172
HumanPhenoNon-convulsive status epilepticus without coma

SCN1A SCN2A GRIN2A

1.96e-0420303HP:0032671
HumanPhenoPsychomotor deterioration

HEXA SCN2A SCN8A

1.96e-0420303HP:0002361
HumanPhenoBilateral tonic-clonic seizure with focal onset

SCN1A SCN2A SCN8A GRIN2A

2.18e-0452304HP:0007334
HumanPhenoTibial torsion

SCN1A SCN2A FIBP

3.02e-0423303HP:0100694
HumanPhenoNeonatal electro-clinical non-motor seizure

SCN2A SCN8A

3.32e-045302HP:0032812
HumanPhenoNeonatal seizure with electrographic correlate

SCN2A SCN8A

3.32e-045302HP:0032808
HumanPhenoNeonatal electro-clinical seizure

SCN2A SCN8A

3.32e-045302HP:0032809
HumanPhenoNeonatal electro-clinical seizure with behavior arrest

SCN2A SCN8A

3.32e-045302HP:0032823
HumanPhenoFocal head nodding automatism seizure

SCN2A SCN8A

3.32e-045302HP:0032906
HumanPhenoIntellectual disability, borderline

SCN3A SCN8A GRIN2A

3.89e-0425303HP:0006889
HumanPhenoGeneralized tonic seizure

SCN1A SCN2A SCN8A GRIN2A

4.86e-0464304HP:0010818
HumanPhenoStatus epilepticus without prominent motor symptoms

SCN1A SCN2A GRIN2A

4.90e-0427303HP:0031475
HumanPhenoExercise-induced rhabdomyolysis

ACADVL RYR1

4.96e-046302HP:0009045
HumanPhenoNormal interictal EEG

SCN2A SCN8A

4.96e-046302HP:0002372
HumanPhenoAbnormal myelination

HEXB SLC12A6 SCN1A SCN2A SCN3A INTS11 SCN8A GRIN2A NUP188 WNK1 PRX

5.03e-046223011HP:0012447
HumanPhenoDecreased sensory nerve conduction velocity

SLC12A6 WNK1 PRX

5.47e-0428303HP:0003448
HumanPhenoFocal aware seizure

SCN1A SCN2A GRIN2A

5.47e-0428303HP:0002349
HumanPhenoIntrinsic hand muscle atrophy

SLC12A6 PRX RYR1

5.47e-0428303HP:0008954
HumanPhenoEpileptic encephalopathy

SCN1A SCN2A SCN3A SCN8A GRIN2A

5.71e-04119305HP:0200134
HumanPhenoAbnormal sensory nerve conduction velocity

SLC12A6 WNK1 PRX

6.08e-0429303HP:0040132
HumanPhenoPremature skin wrinkling

SLC25A24 LZTR1 ZMPSTE24 SCN1A

6.13e-0468304HP:0100678
MousePhenoabnormal posture

HEXB LRIG2 SLC12A6 ZMPSTE24 PSIP1 SCN1A SCN8A RYR1

1.12e-05243628MP:0001504
DomainNa_trans_cytopl

SCN1A SCN2A SCN3A SCN8A

4.19e-096784PF11933
DomainNa_trans_cytopl

SCN1A SCN2A SCN3A SCN8A

4.19e-096784IPR024583
DomainNa_channel_asu

SCN1A SCN2A SCN3A SCN8A

5.80e-0810784IPR001696
DomainNa_trans_assoc

SCN1A SCN2A SCN3A SCN8A

5.80e-0810784IPR010526
DomainNa_trans_assoc

SCN1A SCN2A SCN3A SCN8A

5.80e-0810784PF06512
DomainBeta_hexosaminidase_sua/sub

HEXA HEXB

1.72e-052782IPR025705
DomainGlycohydro_20b2

HEXA HEXB

1.72e-052782PF14845
DomainHEX_eukaryotic_N

HEXA HEXB

1.72e-052782IPR029019
Domain-

HEXA HEXB

1.72e-0527823.30.379.10
DomainChitobiase/Hex_dom_2-like

HEXA HEXB

1.72e-052782IPR029018
DomainIQ

SCN1A SCN2A SCN3A SCN8A MYO15A

2.23e-0581785SM00015
DomainIQ_motif_EF-hand-BS

SCN1A SCN2A SCN3A SCN8A MYO15A

3.72e-0590785IPR000048
DomainIQ

SCN1A SCN2A SCN3A SCN8A MYO15A

4.35e-0593785PS50096
DomainGlyco_hydro_20

HEXA HEXB

5.15e-053782PF00728
DomainGlyco_hydro_20_cat

HEXA HEXB

5.15e-053782IPR015883
DomainChannel_four-helix_dom

SCN1A SCN2A SCN3A SCN8A

9.40e-0557784IPR027359
Domain-

SCN1A SCN2A SCN3A SCN8A

9.40e-05577841.20.120.350
DomainIon_trans_dom

SCN1A SCN2A SCN3A SCN8A RYR1

1.15e-04114785IPR005821
DomainIon_trans

SCN1A SCN2A SCN3A SCN8A RYR1

1.15e-04114785PF00520
DomainEF-hand-dom_pair

SLC25A24 SCN1A SCN3A SCN8A KCNIP2 CALML6 RYR1

1.96e-04287787IPR011992
DomainIQ

SCN1A SCN3A SCN8A MYO15A

2.21e-0471784PF00612
DomainEF-hand_8

KCNIP2 CALML6 RYR1

3.82e-0434783PF13833
DomainSel1

DELE1 SEL1L2

4.74e-048782PF08238
DomainSEL1

DELE1 SEL1L2

4.74e-048782SM00671
DomainSel1-like

DELE1 SEL1L2

6.08e-049782IPR006597
DomainEF-hand_7

SLC25A24 KCNIP2 CALML6

5.41e-0385783PF13499
DomainLRRCT

LRIG2 TLR2

7.87e-0332782PF01463
PathwayWP_DRAVET_SYNDROME

SCN1A SCN2A SCN3A SCN8A

6.84e-0628634M45519
PathwayREACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS

SCN1A SCN2A SCN3A SCN8A

1.04e-0531634M877
PathwayREACTOME_PHASE_0_RAPID_DEPOLARISATION

SCN1A SCN2A SCN3A SCN8A

1.19e-0532634M27455
PathwayREACTOME_CARDIAC_CONDUCTION

SCN1A SCN2A SCN3A SCN8A KCNIP2 RYR1

2.42e-05130636M27454
PathwayREACTOME_MUSCLE_CONTRACTION

CALD1 SCN1A SCN2A SCN3A SCN8A KCNIP2 RYR1

3.24e-05203637M5485
PathwayWP_RETT_SYNDROME

SCN1A SCN2A SCN8A GRIN2A

6.08e-0548634M39759
PathwayKEGG_MEDICUS_REFERENCE_KERATAN_SULFATE_DEGRADATION

HEXA HEXB

1.95e-045632M47609
Pubmed

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.

SCN1A SCN2A SCN3A SCN8A

2.34e-11478417537961
Pubmed

Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse.

SCN1A SCN2A SCN3A SCN8A

2.34e-11478435031483
Pubmed

Abnormal changes in voltage-gated sodium channels subtypes NaV1.1, NaV1.2, NaV1.3, NaV1.6 and CaM/CaMKII pathway in low-grade astrocytoma.

SCN1A SCN2A SCN3A SCN8A

2.34e-11478429578003
Pubmed

A 'toothache tree' alkylamide inhibits Aδ mechanonociceptors to alleviate mechanical pain.

SCN1A SCN2A SCN3A SCN8A

3.50e-10678423652591
Pubmed

International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.

SCN1A SCN2A SCN3A SCN8A

2.92e-09978416382098
Pubmed

Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart.

SCN1A SCN2A SCN3A SCN8A

2.92e-09978415746173
Pubmed

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

SCN1A SCN2A SCN3A

1.09e-08378312610651
Pubmed

SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.

SCN1A SCN2A SCN3A

1.09e-08378323859570
Pubmed

Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.

SCN1A SCN2A SCN3A

1.09e-08378318784617
Pubmed

Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.

SCN1A SCN2A SCN3A

1.09e-08378317544618
Pubmed

Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy.

SCN1A SCN2A SCN8A

1.09e-08378332845893
Pubmed

Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.

SCN1A SCN2A SCN8A

1.09e-08378328518218
Pubmed

Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy.

SCN1A SCN2A SCN8A

1.09e-08378317928448
Pubmed

Early expression of sodium channel transcripts and sodium current by cajal-retzius cells in the preplate of the embryonic mouse neocortex.

SCN1A SCN2A SCN3A

1.09e-08378314973256
Pubmed

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

SCN1A SCN2A SCN3A SCN8A

1.14e-081278430175250
Pubmed

Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2.

SCN1A SCN2A SCN3A SCN8A

1.65e-081378415123669
Pubmed

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.

SCN1A SCN2A SCN8A

4.33e-08478321156207
Pubmed

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

SCN1A SCN2A SCN3A

4.33e-08478335801810
Pubmed

Use of recombinant inbred strains for studying genetic determinants of responses to alcohol.

SCN1A SCN2A SCN3A

4.33e-0847838974318
Pubmed

Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2.

SCN1A SCN2A SCN3A

1.08e-0757831679748
Pubmed

A new sodium channel alpha-subunit gene (Scn9a) from Schwann cells maps to the Scn1a, Scn2a, Scn3a cluster of mouse chromosome 2.

SCN1A SCN2A SCN3A

1.08e-0757838812438
Pubmed

Structure/function characterization of micro-conotoxin KIIIA, an analgesic, nearly irreversible blocker of mammalian neuronal sodium channels.

SCN2A SCN3A SCN8A

1.08e-07578317724025
Pubmed

Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.

SCN1A SCN2A SCN3A

1.08e-07578324337656
Pubmed

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

SCN1A SCN2A SCN8A

3.77e-07778325818041
Pubmed

Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice.

SCN1A SCN2A SCN3A

2.35e-06127838169823
Pubmed

Confirmation of quantitative trait loci for alcohol preference in mice.

SCN1A SCN2A SCN3A

4.84e-06157839726281
Pubmed

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.

SCN1A SCN2A

4.97e-06278229649454
Pubmed

Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate.

HEXA HEXB

4.97e-0627828123671
Pubmed

Activity of lysosomal exoglycosidases in human gliomas.

HEXA HEXB

4.97e-06278216710745
Pubmed

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

SCN2A SCN3A

4.97e-06278220346423
Pubmed

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

HEXA HEXB

4.97e-0627823013851
Pubmed

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy.

SCN1A SCN8A

4.97e-06278237901435
Pubmed

Genetic expression of hexokinase and glucose phosphate isomerase in late-stage mouse preimplantation embryos: transcription activities in glucose/phosphate-containing HTF and glucose/phosphate-free P1 media.

HEXA HEXB

4.97e-0627829237263
Pubmed

An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.

SCN1A SCN8A

4.97e-06278226410685
Pubmed

Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice.

SCN1A SCN2A

4.97e-06278210827969
Pubmed

Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A.

HEXA HEXB

4.97e-0627826458607
Pubmed

Different expression of beta-N-acetylhexosaminidase in mouse tissues.

HEXA HEXB

4.97e-0627828147878
Pubmed

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.

HEXA HEXB

4.97e-0627828789434
Pubmed

Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population.

SCN1A SCN2A

4.97e-06278219694741
Pubmed

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.

SCN2A SCN8A

4.97e-06278235348308
Pubmed

Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.

SCN2A SCN3A

4.97e-06278211245985
Pubmed

KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study.

CLSTN2 KLKB1

4.97e-06278236812656
Pubmed

Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

HEXA HEXB

4.97e-0627822965147
Pubmed

Electrophysiological properties of two axonal sodium channels, Nav1.2 and Nav1.6, expressed in mouse spinal sensory neurones.

SCN2A SCN8A

4.97e-06278215760941
Pubmed

The second PDZ domain of scaffold protein Frmpd2 binds to GluN2A of NMDA receptors.

FRMPD2 GRIN2A

4.97e-06278231196628
Pubmed

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

HEXA HEXB

4.97e-0627821825792
Pubmed

Identification of domains in human beta-hexosaminidase that determine substrate specificity.

HEXA HEXB

4.97e-0627828663217
Pubmed

Differential expression of two sodium channel subtypes in human brain.

SCN1A SCN2A

4.97e-0627821317301
Pubmed

Plasma and peripheral leukocyte beta-N-acetylhexosaminidase isoenzymes and disease activity in rheumatoid arthritis.

HEXA HEXB

4.97e-06278212413610
Pubmed

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

SCN2A SCN3A

4.97e-06278223016767
Pubmed

A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

HEXA HEXB

4.97e-0627829694901
Pubmed

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.

SCN2A SCN3A

4.97e-06278227153334
Pubmed

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

HEXA HEXB

4.97e-06278222789865
Pubmed

Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children.

SCN1A SCN2A

4.97e-06278233096315
Pubmed

Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes.

HEXA HEXB

4.97e-06278228846871
Pubmed

Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.

SCN1A SCN3A

4.97e-06278224990319
Pubmed

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.

SCN1A SCN2A

4.97e-06278231439038
Pubmed

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

CKB SLC12A6

4.97e-06278218566107
Pubmed

I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.

HEXA HEXB

4.97e-06278210591618
Pubmed

Biochemical consequences of mutations causing the GM2 gangliosidoses.

HEXA HEXB

4.97e-06278210571007
Pubmed

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.

HEXA HEXB

4.97e-0627827550345
Pubmed

Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2.

HEXA HEXB

4.97e-0627829417048
Pubmed

Sodium channel expression within chronic multiple sclerosis plaques.

SCN2A SCN8A

4.97e-06278217805013
Pubmed

Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology.

HEXA HEXB

4.97e-06278219166507
Pubmed

A set of genes associated with the interferon-γ response of lung cancer patients undergoing α-galactosylceramide-pulsed dendritic cell therapy.

DPYSL3 PTGR1

4.97e-06278220804502
Pubmed

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.

SCN1A SCN2A

4.97e-06278226311622
Pubmed

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.

SCN1A SCN8A

4.97e-06278233411788
Pubmed

Physiological substrates for human lysosomal beta -hexosaminidase S.

HEXA HEXB

4.97e-06278211707436
Pubmed

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome.

SCN1A SCN8A

4.97e-06278231943325
Pubmed

Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.

HEXA HEXB

4.97e-0627828634145
Pubmed

Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A.

HEXA HEXB

4.97e-0627828672428
Pubmed

[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].

HEXA HEXB

4.97e-06278223370522
Pubmed

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models.

HEXA HEXB

4.97e-06278234201771
Pubmed

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.

SCN1A SCN2A

4.97e-06278215249644
Pubmed

Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis.

HEXA HEXB

4.97e-06278231682993
Pubmed

Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a.

SCN1A SCN3A

4.97e-06278227690330
Pubmed

Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.

HEXA HEXB

4.97e-0627828673609
Pubmed

Three novel mutations in Iranian patients with Tay-Sachs disease.

HEXA HEXB

4.97e-06278224518553
Pubmed

Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.

HEXA HEXB

4.97e-06278215953731
Pubmed

Down-regulation of β-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells.

HEXA HEXB

4.97e-06278221637923
Pubmed

Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.

HEXA HEXB

4.97e-0627822971395
Pubmed

Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology.

HEXA HEXB

4.97e-0627829184660
Pubmed

Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.

HEXA HEXB

4.97e-0627829302266
Pubmed

The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe.

SCN1A SCN2A

4.97e-06278221377452
Pubmed

Reduced expression of Na(v)1.6 sodium channels and compensation by Na(v)1.2 channels in mice heterozygous for a null mutation in Scn8a.

SCN2A SCN8A

4.97e-06278218601978
Pubmed

Knock-down of HEXA and HEXB genes correlate with the absence of the immunostimulatory function of HSC-derived dendritic cells.

HEXA HEXB

4.97e-06278221997228
Pubmed

Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.

HEXA HEXB

4.97e-0627828896570
Pubmed

Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome.

SCN1A SCN3A

4.97e-06278223965409
Pubmed

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

HEXA HEXB

4.97e-06278216698036
Pubmed

Accumulated α-synuclein affects the progression of GM2 gangliosidoses.

HEXA HEXB

4.97e-06278227453479
Pubmed

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels.

SCN2A SCN8A

4.97e-06278219465131
Pubmed

Persistent Nav1.1 and Nav1.6 currents drive spinal locomotor functions through nonlinear dynamics.

SCN1A SCN8A

4.97e-06278237665666
Pubmed

Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts.

HEXA HEXB

4.97e-0627826230359
Pubmed

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.

SCN1A SCN8A

4.97e-06278217881658
Pubmed

Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.

HEXA HEXB

4.97e-0627827959736
Pubmed

SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.

SCN1A SCN2A

4.97e-06278230693367
Pubmed

Block of a subset of sodium channels exacerbates experimental autoimmune encephalomyelitis.

SCN2A SCN8A

4.97e-06278223735284
Pubmed

Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression.

LZTR1 RRP1B ACADVL GSDMA NUP188 ATAD2 PCID2

1.00e-0533278725693804
Pubmed

Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.

SLC25A24 RRP1B CCDC81

1.40e-052178325017104
Pubmed

Voltage-gated sodium channels in taste bud cells.

SCN2A SCN3A

1.49e-05378219284629
InteractionGPR171 interactions

DAZAP1 ACADVL GPR171

5.33e-075773int:GPR171
InteractionSCN4B interactions

SCN1A SCN2A SCN8A

2.96e-068773int:SCN4B
Cytoband2q24.3

SCN1A SCN2A

3.37e-04167822q24.3
GeneFamilySodium voltage-gated channel alpha subunits

SCN1A SCN2A SCN3A SCN8A

1.11e-0895741203
GeneFamilyArmadillo repeat containing|Protein phosphatase 1 regulatory subunits

RRP1B CEP192 WNK1 HYDIN RYR1

2.61e-04181575694
ToppCellPND07-Epithelial-Epithelial_Alveolar-Epithelial_Alveolar-AT2-AT2_prolif|PND07 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

ZDHHC2 APOB ATAD2 RBM47 KLKB1 SEC14L4

7.39e-07179786bf012825e88626e59cd1deebf67c2cd269ce4829
ToppCelldroplet-Lung-LUNG-1m-Myeloid-Myeloid_Dendritic_Type_2|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB GPR171 RBM47 RYR1 SNX13

1.19e-0516978546f0f0de9a0894c454f93032e7a7a800f47c8276
ToppCellfacs-Diaphragm-Limb_Muscle-24m|Diaphragm / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MROH2A SCN3A GPX3 KLKB1 HYDIN

1.19e-0516978512bdc709bc000d7f9061ecd9fbd57233eaacb7e2
ToppCellEndothelial-B-Donor_06|World / lung cells shred on cell class, cell subclass, sample id

DPYSL3 BMX CALD1 SCN3A PMCH

1.30e-051727858a527dff06d841a86c7eb04a1dd9630787294da4
ToppCellThalamus-Neuronal-Excitatory-eN3(Slc17a7_Gad1Gad2)-Slc17a6-Rora-Excitatory_Neuron.Slc17a6.Rora.Pvalb_(Non-anterior_nuclei)|Thalamus / BrainAtlas - Mouse McCarroll V32

GSDMA HS6ST3 SEC14L4 ALPK2

1.67e-0587784fd0df79b02f96463a6bad90dcd019c59c8e3eb0e
ToppCellCiliated_cells-B-Donor_04|World / lung cells shred on cell class, cell subclass, sample id

FRMPD2 CCDC81 CLSTN2 SEC14L4 HYDIN

1.70e-05182785e93968f800bfeb258e4e834fc8bf92d1cb72cd73
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-thymocyte|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MROH2A SCN2A APOB MYO15A HYDIN

1.80e-051847852cbed6462fea2622871bb7e49b0df3d984239281
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MROH2A SCN2A APOB MYO15A HYDIN

1.80e-05184785ea7a7e2bac46d4d2c31a5d576b38a032b5335062
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-proliferating_thymocyte;_DN_to_DP_transition,_dividing_(some_are_Cd8+/_Cd4+,_some_undergoing_VDJ_recombination)|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MROH2A SCN2A APOB MYO15A HYDIN

1.80e-051847852b19a8c5f823e00812908b23e66bb4e563278aff
ToppCellfacs-Large_Intestine-Proximal-24m-Epithelial-enteroendocrine_cell|Large_Intestine / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN3A SCN8A GSDMA CLSTN2 KCNIP2

1.84e-051857852a8104f610fa5ce618f8105521616722462a0d42
ToppCellkidney_cells-Hypertensive_with+without-CKD-Epithelial-Collecting_tubule_epithelial_cell-kidney_collecting_duct_intercalated_cell-Connecting_Tubule_Intercalated_Cell_Type_A|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

CKB ZMPSTE24 SCN2A WNK1 HS6ST3

2.10e-05190785223587b5df037794a2cee234babf87d12bf48ac8
ToppCellsystemic_lupus_erythematosus-managed-Lymphocytic_T-T4_reg|systemic_lupus_erythematosus / PBMC cell types (v2) per disease, treatment status, and sex

PSIP1 DUSP16 AAK1 GPR171 PMCH

2.26e-051937852a06bb3d6bbe544a26dc42d94a10f60acfd3600b
ToppCellsystemic_lupus_erythematosus-managed-Lymphocytic_T-T4_reg-female|systemic_lupus_erythematosus / PBMC cell types (v2) per disease, treatment status, and sex

PSIP1 DUSP16 AAK1 GPR171 PMCH

2.26e-05193785b4f8afd871fdf9418b92ff419c8ba9739b6093ca
ToppCellfacs-Brain_Non-Myeloid-Cortex-3m-Neuronal|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN2A SCN3A CLSTN2 GRIN2A HS6ST3

2.37e-05195785ffbab350e67d9c4b66c0ab84550daec8b8139a27
ToppCellSomatosensory_Cortex_(S1)-Neuronal|Somatosensory_Cortex_(S1) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

SCN1A SCN2A SCN3A SCN8A GRIN2A

2.55e-05198785c01091ef18e096d792ea2a7a715764a5b215355f
ToppCellprimary_auditory_cortex_(A1C)-Neuronal|primary_auditory_cortex_(A1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

SCN1A SCN2A SCN3A SCN8A GRIN2A

2.55e-051987856d18b45eda4014759e6dd282d78ffd28df8a6044
ToppCellPrimary_Motor_Cortex_(M1)-Neuronal|Primary_Motor_Cortex_(M1) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

SCN1A SCN2A SCN3A SCN8A GRIN2A

2.55e-051987854ca5ff320905ab4ff60ed90a5522227c782142a6
ToppCellNeuronal|World / cells hierarchy compared to all cells using T-Statistic

SCN2A SCN3A SCN8A AAK1 GRIN2A

2.68e-0520078548d801219bc771d6c7e151dc88ca4c179988de85
ToppCellkidney_cells-Renal_AKI_(acute_kidney_injury)-Epithelial|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

CKB ACADVL PTGR1 GPX3 RBM47

2.68e-052007854bbb35d43d238fdd173fe2557cb31d2b56f767b5
ToppCellPosterior_cortex-Neuronal-Inhibitory-iN1(Gad1Gad2_Th)-Sst-Inhibitory_Neuron.Gad1Gad2.Sst-Pdyn_(Neuron.Gad1Gad2.Sst-Pdyn)|Posterior_cortex / BrainAtlas - Mouse McCarroll V32

MROH2A GSDMA ALPK2

4.38e-05397838b5d15f979a92799a9e77f1b501d3c4fa4e8695a
ToppCellPosterior_cortex-Neuronal-Inhibitory-iN1(Gad1Gad2_Th)-Sst-Inhibitory_Neuron.Gad1Gad2.Sst-Pdyn_(Neuron.Gad1Gad2.Sst-Pdyn)-|Posterior_cortex / BrainAtlas - Mouse McCarroll V32

MROH2A GSDMA ALPK2

4.38e-0539783a24eb4c26344c5c97bbf39a1adc56ee34013dc4f
ToppCellT_cells-Treg_cells|T_cells / Immune cells in Rheumatoid Arthritis Joint Synovial Tissues

SLC12A6 SEL1L2 SEC14L4 PMCH

1.01e-0413878435880e23ef317862891b54ac6a2265ca03b1d12a
ToppCellfacs-Heart-Unknown-3m-Endothelial-endothelial_cell_of_coronary_artery|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SLC25A2 MROH2A PIWIL4 MYO15A

1.10e-041417844aa4b3476dc5abefbd348353cfe711cd5fe3d52f
ToppCellfacs-Heart-Unknown-3m-Endothelial-coronary_vascular_endothelial_cell|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SLC25A2 MROH2A PIWIL4 MYO15A

1.10e-04141784e40c6f1b7fbaa46b3eaa55f1b37ef360b04370a8
ToppCellfacs-Heart-Unknown-3m-Endothelial|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SLC25A2 MROH2A PIWIL4 MYO15A

1.13e-04142784759fbbd15b4fb313bd6269b7f087edafebd530ef
ToppCellrenal_cortex_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Collecting_tubule_epithelial_cell-kidney_collecting_duct_intercalated_cell-Transitional_Principal-Intercalated_Cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

SCN2A SCN3A APOB HS6ST3

1.26e-04146784e887e9de895fd453faa703997ef372cc6410fc49
ToppCellPBMC_fresh-frozen-Mild-Moderate_progression_d12-25-Lymphocytic-Lymphocytic_T-mature_alpha-beta_T_cell-T_CD4_c13-MKI67-CCL5_l|Mild-Moderate_progression_d12-25 / Compartment, severity and other cell annotations on 10x 3' data (130k)

LZTR1 SCN1A FAM83G C1orf141

1.40e-041507846f7087a051a2f05c5611ff65a945c01736d5ec2b
ToppCellrenal_medulla_nuclei-CKD+DKD_normotensive-Epithelial-Distal_tubule_epithelial_cell-kidney_distal_convoluted_tubule_epithelial_cell-Distal_Convoluted_Tubule_Cell_Type_2|CKD+DKD_normotensive / Celltypes from Cells and Nuclei per compartment and clinical group

SCN1A SCN2A INTS11 WNK1

1.43e-04151784f41c6558a5874b6464c157027fdf202257c60e5b
ToppCell356C-Lymphocytic-CD4_T-cell-Treg_cell_4|356C / Donor, Lineage, Cell class and subclass (all cells)

DUSP16 FAM83G GSDMA PMCH

1.51e-04153784cda759ab83a271974651fe4faa21ed4f7ecbb3ae
ToppCellrenal_medulla_nuclei-CKD+DKD_normotensive-Epithelial-Collecting_tubule_epithelial_cell-kidney_connecting_tubule_epithelial_cell-Connecting_Tubule_Cell|CKD+DKD_normotensive / Celltypes from Cells and Nuclei per compartment and clinical group

ZMPSTE24 SCN2A SEL1L2 WNK1

1.51e-0415378479c4f4ccdc8249c8461075c73491bc3b2d13344a
ToppCellStriatum-Neuronal-Excitatory-eN3(Slc17a7_Gad1Gad2)-Adora2a-Excitatory_Neuron.Gad1Gad2.Adora2a-Fos_(iSPN,_IEG+)|Striatum / BrainAtlas - Mouse McCarroll V32

NPS SLC25A2 GPR171

1.52e-0459783a72de8cda377c87fa9a6fbda72735d850650f9f4
ToppCellStriatum-Neuronal-Excitatory-eN3(Slc17a7_Gad1Gad2)-Adora2a-Excitatory_Neuron.Gad1Gad2.Adora2a-Fos_(iSPN,_IEG+)-|Striatum / BrainAtlas - Mouse McCarroll V32

NPS SLC25A2 GPR171

1.52e-04597833ab024fa7a927177da0dc764cee46dabdd008040
ToppCell10x_3'_v2v3-Non-neoplastic-Glial-Neuronal-OPC-OPC-E|10x_3'_v2v3 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

SCN1A SCN2A SCN3A KCNIP2

1.59e-0415578477fdae85d36efb776db977eb424b32487ef222e4
ToppCellEntopeduncular-Macroglia-OLIGODENDROCYTE-O1-Trf-Oligodendrocyte.Trf.Serpinb1a_(Serpinb1a)|Entopeduncular / BrainAtlas - Mouse McCarroll V32

NPS PIWIL4 APOB

1.60e-046078348adafeec1810bce5f118fa63d4a8ee7ab9ca0f7
ToppCellEntopeduncular-Macroglia-OLIGODENDROCYTE-O1-Trf-Oligodendrocyte.Trf.Serpinb1a_(Serpinb1a)-|Entopeduncular / BrainAtlas - Mouse McCarroll V32

NPS PIWIL4 APOB

1.60e-0460783a83afb89dbfc2e1cdfce57320d89c980bd8fb820
ToppCellfacs-Heart-Unknown-3m-Myeloid-monocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ZDHHC2 APOB KLKB1 RYR1

1.67e-041577848d30d8e6fae93afcada6bd68799439335cd65b69
ToppCellfacs-Heart-Unknown-3m-Myeloid|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ZDHHC2 APOB KLKB1 RYR1

1.67e-041577842ac4695d9e4ca8d4ba19c555e9a1d86ac8f398ab
ToppCellfacs-Heart-Unknown-3m-Myeloid-monocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ZDHHC2 APOB KLKB1 RYR1

1.67e-041577848a393eece90fb9a1b7c356736bdb36277261fbd3
ToppCelldroplet-Marrow-nan-18m-Lymphocytic-NK_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB DUSP16 GPX3 RYR1

1.83e-041617843f3a2148c8d65e6a06f8d8116a3aa58dda17d618
ToppCelldroplet-Liver-LIVER_HEP-30m-Myeloid-macrophage/monocyte|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

HEXB SLC12A6 BMX ALPK2

1.88e-0416278493bd29c52846c3156b8b0d2e39c552373efdfe93
ToppCelldroplet-Kidney-nan-21m-Myeloid-CD45____macrophage|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB HEXA HEXB TLR2

1.97e-04164784d4cdcd61e8c28b3fb912cef8837cc1a49678a729
ToppCellPND10-Endothelial-Endothelial_lymphatic-Lymphatic_EC-LEC|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

SCN1A MROH2A SCN3A WNK1

1.97e-041647844cfc9f92e49f86d3639e018b35b6a60dc62f494a
ToppCellPND10-Endothelial-Endothelial_lymphatic-Lymphatic_EC|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

SCN1A MROH2A SCN3A WNK1

1.97e-041647847a8e5ef52a8fd2877d59ef0696af8a7af90bbed6
ToppCellPND10-Endothelial-Endothelial_lymphatic-Lymphatic_EC-LEC-LEC_mature|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

SCN1A MROH2A SCN3A WNK1

1.97e-041647845e5bd81414ea2d64f73cdef19a0a78c17bec8c18
ToppCellPND10-Endothelial-Endothelial_lymphatic|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

SCN1A MROH2A SCN3A WNK1

1.97e-04164784f13b8d9b7f42193f333d9a77571a1dde6bbb48d8
ToppCelldroplet-Kidney-nan-21m-Myeloid-macrophage|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB HEXA HEXB TLR2

2.01e-041657849852a4cb680af39c92c7d2d5e5fa8dc04e6602aa
ToppCelldroplet-Kidney-nan-21m-Myeloid|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB HEXA HEXB TLR2

2.01e-04165784c629ed33ff14834c32cc1a91116fb079f7aaa94d
ToppCell3'-Broncho-tracheal-Immune_Lymphocytic-Lymphocytic_T/NK-CD8-positive,_alpha-beta_T_cell-CD8_T_cells-CD8_T_cells_L.1.1.0.2|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

CALD1 SCN3A AAK1 CLSTN2

2.06e-0416678426f3d5e5e30b63b09b89cda23c423d12d887631f
ToppCell10x_3'_v2v3-Non-neoplastic-Lymphoid-CD4/CD8-Reg_T-E|10x_3'_v2v3 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

DUSP16 FAM83G CLSTN2 ATAD2

2.16e-04168784187b98664843a304406f086ea696adbf32283d07
ToppCell5'-Adult-Appendix-Hematopoietic-T_cells-TRGV2_gdT|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

SLC12A6 NIM1K GPR171 ATAD2

2.21e-041697848caf7996796a2e2716e3855de855c903d6126bf2
ToppCelldroplet-Lung-1m-Hematologic-myeloid-myeloid_dendritic_cell-dendritic_type_2|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CKB GPR171 RBM47 RYR1

2.21e-041697849c9bb1b32fc6e22359424a262178906c3954415d
ToppCellHippocampus-Neuronal-Excitatory-eN2(Slc17a7_Slc17a6)-Slc17a6-Excitatory_Neuron.Slc17a6.Nts_(Neuron.Slc17a6.Nts)-|Hippocampus / BrainAtlas - Mouse McCarroll V32

SLC25A2 GPR171 ALPK2

2.22e-0467783bc06a697f47b60c43e238f8c6803a1b061f22550
ToppCellHippocampus-Neuronal-Excitatory-eN2(Slc17a7_Slc17a6)-Slc17a6-Excitatory_Neuron.Slc17a6.Nts_(Neuron.Slc17a6.Nts)|Hippocampus / BrainAtlas - Mouse McCarroll V32

SLC25A2 GPR171 ALPK2

2.22e-046778350acd69659f6d827868dc48bfb00af8634a8b4c7
ToppCellThalamus-Neuronal-Excitatory-eN3(Slc17a7_Gad1Gad2)-Slc17a6-Rora-Excitatory_Neuron.Slc17a6.Rora.Cbln2_(Neuron.Slc17a6.Rora.Cbln2)|Thalamus / BrainAtlas - Mouse McCarroll V32

MROH2A GSDMA SEC14L4

2.22e-04677835202166895fd109ad0d7584fc35c74814a59ce2b
ToppCellfacs-Lung-EPCAM-3m-Epithelial-club_cell_of_bronchiole|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

FAM83G MYO15A SEC14L4 HYDIN

2.26e-0417078482ccba6ec53f6ca0d19949a1277434c565af2983
ToppCellfacs-Lung-EPCAM-3m-Epithelial-Club_Cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

FAM83G MYO15A SEC14L4 HYDIN

2.26e-04170784ab19ea729ed8c8361c870e79893d1a95a1e487fa
ToppCellfacs-Kidney-nan-18m-Epithelial-kidney_collecting_duct_principal_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB CCDC81 WNK1 KLKB1

2.36e-04172784bc1b889ac5e07b8324ae5837eca911f9c865e959
ToppCellfacs-Kidney-nan-18m-Epithelial-kidney_collecting_duct_principal_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB CCDC81 WNK1 KLKB1

2.36e-04172784ba70b6110b70afb1870e8dcaf58c507b8c7d918e
ToppCellIonocyte-iono-2|World / Class top

HEXA HEXB SCN3A GSDMA

2.41e-04173784e5ec28ccc5e048fd98de4c876e5c53b866b66228
ToppCellwk_15-18-Epithelial-PNS-Schwann_precursor|wk_15-18 / Celltypes from embryonic and fetal-stage human lung

RRP1B SCN1A SCN8A HS6ST3

2.63e-041777845357359e6c2161a37f39a6b3b78449f5cbc327d1
ToppCellfacs-Lung-EPCAM-3m-Myeloid-myeloid_dendritic_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB GPR171 RBM47 RYR1

2.63e-04177784e73e2b6a72630bb56ac2af1cdeedc8f0f828f390
ToppCelldroplet-Pancreas-PANCREAS-30m-Epithelial-pancreatic_A_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN1A SCN3A GPX3 PCDH8

2.63e-041777841dc69c661e70e7e22bd9d7cf953eb638da9fd43c
ToppCelldroplet-Pancreas-PANCREAS-30m-Epithelial-pancreatic_A_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN1A SCN3A GPX3 PCDH8

2.63e-04177784426a9845df7fd13b02e744532c336c60bc4d4a22
ToppCellsystemic_lupus_erythematosus-treated-Lymphocytic_T-T4_reg-female|systemic_lupus_erythematosus / PBMC cell types (v2) per disease, treatment status, and sex

PSIP1 AAK1 GPR171 PMCH

2.69e-0417878490dedb3cef9b01907b9f8eec64218d6d2072be1f
ToppCellsystemic_lupus_erythematosus-treated-Lymphocytic_T-T4_reg|systemic_lupus_erythematosus / PBMC cell types (v2) per disease, treatment status, and sex

PSIP1 AAK1 GPR171 PMCH

2.69e-04178784d6312286bf6cc5b107ccd7adb583d9667d4e1d21
ToppCellfacs-Large_Intestine-Proximal-3m-Epithelial-enteroendocrine_cell|Large_Intestine / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ENOX1 SCN3A GSDMA CLSTN2

2.69e-0417878430ca37f70d267cc9b40ca3e211f16d30360c3e6b
ToppCellCOVID-19-kidney-vSMC/Pericyte|COVID-19 / Disease (COVID-19 only), tissue and cell type

CALD1 SCN3A GRIN2A HS6ST3

2.75e-04179784111b1084f73306bdeffaaf240e7dbb4f5bf33de1
ToppCellPND10-Mesenchymal-Mesenchymal_myocytic-Myofibroblast_airway-SCMF-SCMF_prolif|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CKB CALD1 PSIP1 ATAD2

2.75e-04179784ff678e2f33c914e3dd0f338ada25f506c3e3c980
ToppCellPCW_13-14-Neuronal-Neuronal_postreplicative-neuro_neuronal_(6)|PCW_13-14 / Celltypes from embryonic and fetal-stage human lung

SCN1A SCN2A SCN3A HS6ST3

2.75e-04179784af0b54c9ea0b6e4210f22dbb6e88ecd3276a5f86
ToppCellfacs-Lung-24m-Endothelial-arterial_endothelial-pulmonary_artery_endothelial_cell-pulmonary_artery_endothelial_cell_l25|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

BMX ACADVL WDR20 ATAD2

2.81e-04180784baa5825e6ce23a98d9c21d024a4b0ab8ba353d0c
ToppCellfacs-Lung-24m-Endothelial-arterial_endothelial-pulmonary_artery_endothelial_cell|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

BMX ACADVL WDR20 ATAD2

2.81e-041807842d608b9394d28d19cfc85c6ac94003d5177c8a92
ToppCellBAL-Mild-Myeloid-cDC-cDC-cDC_10|Mild / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

CKB ENOX1 CCDC81 ALPK2

2.81e-04180784067ca8a15228c7f3b3bc7aecbc9b1611ca05e176
ToppCellfacs-Lung-24m-Endothelial-arterial_endothelial|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

BMX ACADVL WDR20 ATAD2

2.81e-041807840f9b27054358c4737eed06c8ea01987cccc3cb55
ToppCellHSPCs-Mono_prog.|HSPCs / Lineage and Cell class

HEXA TLR2 GPX3 RBM47

2.87e-04181784a188f0d22426d8723ba394d94d20431afa6722a7
ToppCellAdult-Epithelial-ciliated_cell-D122|Adult / Lineage, Cell type, age group and donor

ENOX1 FRMPD2 CCDC81 HYDIN

2.93e-041827847ded554a4b441e6496db673ba206c0d76ccad7d9
ToppCellEpithelial-lung_neuroendocrine_cell_(PNEC)|World / Lineage, Cell type, age group and donor

DPYSL3 SCN2A SCN3A SCN8A

2.93e-0418278457bf4ffb304324e2e392e196336a530d9f78fe0d
ToppCellChildren_(3_yrs)-Endothelial-alveolar_capillary_endothelial_cell_(Cap2;_aerocyte)-D046|Children_(3_yrs) / Lineage, Cell type, age group and donor

DPYSL3 CALD1 GRIN2A PRX

2.93e-04182784a20017b6a4f9a6a29e090e4dbd7c02ed1495bd50
ToppCellpdx-Tumor_cells-T6|Tumor_cells / Sample and Cell Type and Tumor Cluster (all cells)

ENOX1 TLL2 DUSP16 TLR2

2.93e-041827847b24a4f712e1ae1525e8f1c8ec4e1fc43489cbee
ToppCell343B-Lymphocytic-CD4_T-cell-Treg_cell_4|CD4_T-cell / Donor, Lineage, Cell class and subclass (all cells)

SLC25A24 RP2 RYR1 PMCH

2.99e-041837843cbe0175d05fd39bc430de1ef471ff2c5b56460e
ToppCellPrimary_Visual_cortex_(V1C)-Neuronal-Glutamatergic_Excit-Glut_C-D_(RORB)-Glut_D_(IT_RORB_THEMIS_LINC00507)_3|Primary_Visual_cortex_(V1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

KCNIP2 HS6ST3 PCDH8 HYDIN

3.05e-0418478430fddbc9696476d4d7f08e53f84ea994a4ed873a
ToppCellPrimary_Visual_cortex_(V1C)-Neuronal-Glutamatergic_Excit-Glut_C-D_(RORB)-Glut_D_(IT_RORB_THEMIS_LINC00507)_3-Exc_L2-3_LINC00507_RPL9P17|Primary_Visual_cortex_(V1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

KCNIP2 HS6ST3 PCDH8 HYDIN

3.05e-0418478496926efa220f03d0787322c9519bb9e8f64f74d0
ToppCellrenal_cortex_nuclei-Hypertensive_with+without-CKD-Mesenchymal-Myocytic_interstitial_cell-Vascular_Smooth_Muscle_Cell_/_Pericyte|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

CALD1 SCN3A GRIN2A HS6ST3

3.11e-0418578451dfe6ac7df8b330343b37e3bee71e5c65267189
ToppCellrenal_cortex_nuclei-Hypertensive_with+without-CKD-Mesenchymal-Myocytic_interstitial_cell-Vascular_Smooth_Muscle_Cell_/_Pericyte-|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

CALD1 SCN3A GRIN2A HS6ST3

3.11e-04185784a8c02cec3c414f3a0da9f2d6d28ce563b0030705
ToppCelldroplet-Pancreas-Endocrine-21m-Epithelial-pancreatic_A_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN3A GPX3 PIWIL4 PCDH8

3.18e-0418678416092819e9148dfe64f07c737652b6e533e699f7
ToppCellfacs-Lung-EPCAM-3m|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN3A GPR171 RBM47 SEC14L4

3.18e-041867847c4eb769574f9f32753cea1cc38c711dabba88b9
ToppCellFetal_29-31_weeks-Epithelial-lung_neuroendocrine_cell_(PNEC)|Fetal_29-31_weeks / Lineage, Cell type, age group and donor

SCN2A SCN3A SCN8A PMCH

3.18e-04186784b45cce768e4bf91da194fd9660cab7520dfb15ac
ToppCelldroplet-Marrow-BM_(NON-STC)-30m-Hematologic-megakaryocyte-erythroid_progenitor_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

HEXB PTGR1 GPX3 ATAD2

3.24e-04187784a7f1656a33b8f88acf655ba609e3858354fff565
ToppCell(2)_5-FU-(2)_LEPR+_perivascular_cells_and_VE-Cad+_vascular_cells_(mixed)|(2)_5-FU / Stress and Cell class

DPYSL3 CALD1 PTGR1 GPX3

3.24e-041877846bbf0f7fe203274dae8d582652f35cd3187c0065
ToppCell10x_3'_v2v3-Neoplastic-Stem-like-NPC-like-NPC-like_neural-C|10x_3'_v2v3 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

DPYSL3 CALD1 SCN3A CLSTN2

3.31e-04188784e239bcdbd210a398a5850cb6fbf171d402f45a4f
ToppCellSubstantia_nigra-Neuronal-Inhibitory-iN1(Gad1Gad2_Th)|Substantia_nigra / BrainAtlas - Mouse McCarroll V32

SCN2A SCN3A CLSTN2 PCDH8

3.31e-04188784b73e8a40393c3f656e2fcfe395a761b1f985c254
ToppCellsystemic_lupus_erythematosus-flare-Lymphocytic_T-T4_reg|systemic_lupus_erythematosus / PBMC cell types (v2) per disease, treatment status, and sex

PSIP1 AAK1 GPR171 PMCH

3.31e-04188784e5c480b9a030536578f1cc91fb61738f752525b3
ToppCell(1)_T_CD4_reg|World / Spleen cell shreds - cell class (v1) and cell subclass (v1)

DUSP16 AAK1 WNK1 PMCH

3.38e-0418978428f28672fd260bb2a8d64152737a7242347c3174
ToppCellE17.5-Mesenchymal-developing_mesenchymal_cell-mesenchymal_myogenic_precursor_(Axin2+)|E17.5 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

CALD1 GPX3 SCN8A CLSTN2

3.38e-0418978426cfe5b7e7f477f225f4e9f25f983f432f01e183
ToppCell5'-Parenchyma_lung-Mesenchymal-Fibroblastic-fibroblastic_type_1-Adventitial_fibroblasts-Adventitial_fibroblasts_L.2.1.2.1|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DPYSL3 CALD1 GPX3 CLSTN2

3.38e-04189784d531399749409d614adca13d181830c6e3287508
ToppCellrenal_cortex_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Distal_tubule_epithelial_cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

CKB ENOX1 SCN2A WNK1

3.38e-0418978455420853f730b433ef58ac9337ac84ac78a247a0
ToppCellCOVID-19-kidney-PCT-S2|kidney / Disease (COVID-19 only), tissue and cell type

CALD1 GPX3 CLSTN2 ALPK2

3.38e-041897840be5c669b6b308bd98ddb70c84877c62a6244bbd
ToppCellPND03-Mesenchymal-Mesenchymal_myocytic-Myofibroblast_vascular-Pericyte|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CKB CALD1 SCN8A CLSTN2

3.38e-04189784ca3a04c202afc32aa11d17154066ef7dc6d01405
ToppCellE17.5-Mesenchymal-developing_mesenchymal_cell|E17.5 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

CALD1 GPX3 SCN8A CLSTN2

3.44e-041907842ab604d35456beba71c25511e0f819000e6642d2
ToppCellnormal_Lung-Fibroblasts-Undetermined|normal_Lung / Location, Cell class and cell subclass

DPYSL3 CALD1 GPX3 SEL1L2

3.44e-0419078430d4658bcc6796f0cdf54cc029f4bb904b13ef66
ToppCellGlobus_pallidus-Neuronal|Globus_pallidus / BrainAtlas - Mouse McCarroll V32

SCN2A SCN8A AAK1 GRIN2A

3.44e-04190784416de85d8841dac883faa6f5339b2fb461a09e82
Drughydroxyachillin

HEXA HEXB RP2

3.85e-075783CID000099114
DrugAPETx1, Anthopleura elegantissima

SCN2A SCN3A SCN8A

7.68e-076783ctd:C475726
Drugleucodin

HEXA HEXB RP2

1.34e-067783CID000167683
Drug2,3,5,6-tetrafluoro-4-methylbenzyl (Z)-(1RS)-cis-3-(2-chloro-3,3,3-trifluoroprop-1-enyl)-2,2-dimethylcyclopropanecarboxylate

SCN2A SCN3A SCN8A

2.14e-068783ctd:C489827
DrugAC1L1ICP

SLC12A6 APOB GRIN2A

4.56e-0610783CID000004520
Drugnicotinoylprocaine

CKB HEXA HEXB

8.32e-0612783CID000159667
DrugTetrodotoxin

SCN2A SCN3A SCN8A GRIN2A

1.06e-0540784ctd:D013779
DrugPNP-GlcNAc-6-SO4

HEXA HEXB

1.16e-052782CID000133365
DrugZonisamide

SCN1A SCN2A SCN3A

2.54e-0517783DB00909
DrugPNP-(GlcNAc)5

HEXA HEXB

3.47e-053782CID003081071
Drugfarnesane

HEXA HEXB

3.47e-053782CID000019773
DrugPrimidone [125-33-7]; Up 200; 18.4uM; PC3; HT_HG-U133A

ENOX1 CALD1 TLL2 AAK1 PMCH SNX13

5.95e-051977866723_UP
Drugmethionine methyl ester

HEXA HEXB

6.92e-054782CID000064684
DrugADSN deriv.

HEXA HEXB

6.92e-054782CID006451109
Druginositol nicotinate

HEXA APOB

6.92e-054782CID000003720
DrugNP-009007

HEXA HEXB

6.92e-054782CID011390848
Drugrabdosiin

HEXA HEXB

6.92e-054782CID000471121
Drugdiglycolamine

HEXA HEXB

6.92e-054782CID000013578
DrugAC1NT0TY

HEXA HEXB

6.92e-054782CID005321775
Drugtriphenylacetic acid

HEXA HEXB

6.92e-054782CID000068992
DrugCHBZ

HEXA HEXB

6.92e-054782CID000054550
DrugAPETx2 protein, Anthopleura elegantissima

SCN2A SCN8A

6.92e-054782ctd:C501880
Drugoxyphyllol A

HEXA HEXB

6.92e-054782CID000637451
Drugmalathion monoacid

HEXA HEXB

6.92e-054782CID003032927
DrugT0702

HEXA HEXB RYR1

8.43e-0525783CID000005908
Drugl 3000

ZDHHC2 HEXA HEXB

1.07e-0427783CID000102475
Druggemfibrozil

CKB HEXA HEXB ZMPSTE24 WDR20 APOB

1.15e-04222786CID000003463
Drugmyricanol

HEXA HEXB

1.15e-045782CID000161779
Drugmyricanone

HEXA HEXB

1.15e-045782CID000161748
DrugAC1Q6SGD

ZDHHC2 HEXA

1.15e-045782CID000016775
Drug4-ethylguaiacol

HEXA RYR1

1.15e-045782CID000062465
DrugAC1L9A0M

PRPF3 TLR2 CLSTN2 RP2

1.22e-0474784CID000440822
Drugcyfluthrin

SCN2A SCN3A HYDIN

1.33e-0429783ctd:C052570
Drugfenpropathrin

SCN2A SCN3A

1.72e-046782ctd:C044267
Drugtetra-N-acetylchitotetraose

HEXA HEXB

1.72e-046782CID003081988
Drugcyclic oxamide

HEXA HEXB

1.72e-046782CID000468476
DrugX1207

HEXA HEXB

1.72e-046782CID000084718
Drugdihexyl ether

HEXA WDR20

1.72e-046782CID000008198
Drugpsoralidin

HEXA HEXB

1.72e-046782CID005281806
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN8A

8.89e-0910774DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN8A

8.89e-0910774DOID:0080422 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN8A

2.09e-0812774DOID:0060170 (implicated_via_orthology)
Diseaseepilepsy (implicated_via_orthology)

SLC12A6 SCN1A SCN2A SCN3A SCN8A GRIN2A

4.44e-06163776DOID:1826 (implicated_via_orthology)
DiseaseBenign familial infantile epilepsy

SCN2A SCN8A

2.01e-053772cv:C5575231
Diseaseanxiety disorder (implicated_via_orthology)

SCN1A SCN2A SCN3A

2.54e-0522773DOID:2030 (implicated_via_orthology)
DiseaseBipolar Disorder

SLC12A6 DAZAP1 TLL2 SCN2A TLR2 SCN8A GRIN2A PMCH

3.49e-05477778C0005586
DiseaseEpilepsy, Cryptogenic

SCN1A SCN2A SCN8A GRIN2A

6.42e-0582774C0086237
DiseaseAwakening Epilepsy

SCN1A SCN2A SCN8A GRIN2A

6.42e-0582774C0751111
DiseaseAura

SCN1A SCN2A SCN8A GRIN2A

6.42e-0582774C0236018
DiseaseFamilial benign neonatal epilepsy

SCN2A SCN8A

1.00e-046772C0220669
DiseaseSeizure, Febrile, Simple

SCN1A SCN2A

1.40e-047772C0149886
DiseaseSeizure, Febrile, Complex

SCN1A SCN2A

1.40e-047772C0751057
DiseaseEpilepsy

SCN1A SCN2A SCN8A GRIN2A

1.94e-04109774C0014544
DiseaseFebrile Convulsions

SCN1A SCN2A

2.39e-049772C0009952
DiseaseMyoclonic Epilepsy

HEXB SCN1A

2.39e-049772C0014550
DiseaseGeneralized Epilepsy with Febrile Seizures Plus

SCN1A SCN2A

2.39e-049772C3502809
DiseaseInfantile Severe Myoclonic Epilepsy

SCN1A SCN2A

5.15e-0413772C0751122
DiseaseMMR-related febrile seizures

SCN1A SCN2A

6.90e-0415772EFO_0006519
DiseaseEarly infantile epileptic encephalopathy with suppression bursts

SCN1A SCN2A

7.88e-0416772C0393706
Diseasetype 1 diabetes mellitus (is_marker_for)

TLR2 GPX3 APOB

8.95e-0472773DOID:9744 (is_marker_for)
Diseasesyndrome (implicated_via_orthology)

ZDHHC2 SCAF8

1.00e-0318772DOID:225 (implicated_via_orthology)
DiseaseFebrile seizure (within the age range of 3 months to 6 years)

SCN1A SCN2A

1.00e-0318772HP_0002373
Diseasecoagulation factor measurement

ENOX1 PCID2

1.24e-0320772EFO_0004634
Diseaseresponse to xenobiotic stimulus

ANKRD31 ENOX1 ZNF175 SCN1A

1.33e-03182774GO_0009410
Diseasefree cholesterol:total lipids ratio, intermediate density lipoprotein measurement

ANKRD31 APOB SNX13

1.50e-0386773EFO_0008595, EFO_0020945
Diseasesleep duration, low density lipoprotein cholesterol measurement

ANKRD31 APOB SNX13

1.76e-0391773EFO_0004611, EFO_0005271
DiseaseNeurodevelopmental Disorders

SCN1A SCN2A SCN8A

1.87e-0393773C1535926
Diseasecholesterol to total lipids in small LDL percentage

ANKRD31 APOB

2.26e-0327772EFO_0022241
Diseasecholesterol to total lipids in medium LDL percentage

ANKRD31 APOB

2.26e-0327772EFO_0022238
DiseaseColorectal Carcinoma

ZDHHC2 FRMPD2 TLR2 APOB CLSTN2 GRIN2A WNK1

2.38e-03702777C0009402

Protein segments in the cluster

PeptideGeneStartEntry
SAQTGKFERMFSAGK

C1orf141

341

Q5JVX7
MKKFFDSRREQGGSG

AAK1

1

Q2M2I8
KGFKGNCSMTFIDQF

ALPK2

2101

Q86TB3
RQKGKEGAFMVRNSS

BMX

311

P51813
KGMTTVDDFFQGTKA

DPYSL3

81

Q14195
AGFVSQSRGQEKSKM

GPX3

16

P22352
TGNFGFKNMLDTRVE

GSDMA

76

Q96QA5
QGDKRVAFFMRKGAD

ATAD2

486

Q6PL18
SSEMIFKFDGRQGAK

CLSTN2

351

Q9H4D0
SMAKDVDRDNKGFFN

CALML6

76

Q8TD86
IMKDKTTNQSRGFGF

DAZAP1

41

Q96EP5
SAADKMKNRGFAFVE

RBM47

186

A0AV96
FRNGVGTGMKKTSFQ

NPS

71

P0C0P6
VDFGKNVMKEFLGEN

IPPK

56

Q9H8X2
SMFEKTKFGQGTSRE

ANKRD31

1816

Q8N7Z5
CRDKMFVFSGQSGAK

LZTR1

236

Q8N653
AVDKKGEANFFTSQM

INTS11

111

Q5TA45
QKGGNMKEVFTRFCT

CKB

241

P12277
AFFEQQGMDKPARSK

MYO15A

456

Q9UKN7
KVSGDTSFRLMKQFN

PCDH8

56

O95206
ENVGKGKEAFSMTFG

FAM214A

416

Q32MH5
SNVGCMEFKKEFGRN

GPR171

161

O14626
SFFQKMDRNKDGVVT

KCNIP2

231

Q9NS61
DKSNQLFFGKVGRQM

MIGA2

366

Q7L4E1
GFSTVSKKGEMLNTF

NIM1K

216

Q8IY84
KNMAFFGLTEFQRKT

HS6ST3

346

Q8IZP7
VGRKAMFDSDFKQAE

PCID2

216

Q5JVF3
SEMLFFGNAIEGKSN

APOB

2841

P04114
TNMGKVGFEFKVLTD

HYDIN

1411

Q4G0P3
RKNFEAMFKGILQSG

CASP5

11

P51878
RSISMKQNVEFTFKG

CCDC81

136

Q6ZN84
ANGLGFSFVQMEKES

FRMPD2

1086

Q68DX3
FDFGGNIIMFSTDKQ

EIF3I

101

Q13347
KQFKRRSCQMEFGES

DUSP16

621

Q9BY84
GKTEDTFFMSNKPQR

CEP192

686

Q8TEP8
YKGVDMRGVNFNVSK

KLKB1

116

P03952
EKHGFNQQTLGFFMK

ZMPSTE24

151

O75844
KIQDFMRQKGFGTDF

HEXB

366

P07686
ASRGQKAKSMEGFQD

SLC12A6

1056

Q9UHW9
GVSFNKKLMDRFDFG

SCAF8

256

Q9UPN6
FGVFLKTKMGEQQSA

SEC14L4

316

Q9UDX3
DFQKAMDSQKQFSGP

RYR1

4091

P21817
MFKQEFTGVGATLEK

ENOX1

616

Q8TC92
DMVFNTFRLGKGFQK

PMCH

36

P20382
IAFNFLGTENMKSGD

DELE1

246

Q14154
GTAKDRSFGEMKFKQ

PRPF3

636

O43395
QGFSFNKMFTEKATE

PRIMPOL

226

Q96LW4
EFSNTVIGQMKKFGR

PTGR1

221

Q14914
FFSQMETNKEAVRVG

MROH2A

391

A6NES4
KGALAQKFMFVDGDR

FAM83G

251

A6ND36
RGKLGVFSEMEANFK

FIBP

266

O43427
QDFMRKKGFGEDFKQ

HEXA

336

P06865
KGKGDFARKMDTFVN

SNX13

691

Q9Y5W8
FGLNRNMTAEFKKTD

RRP1B

686

Q14684
KNFTDEGDQLFKMGI

SEL1L2

101

Q5TEA6
GSTFMERGVKNKQDF

PIWIL4

66

Q7Z3Z4
GGKEMNEIKTQFTTR

WDR20

6

Q8TBZ3
KKFGGQDIFMTEEQK

SCN3A

1476

Q9NY46
GFCQQFVRKVAGMDK

SLC25A2

86

Q9BXI2
KKFGGQDIFMTEEQK

SCN1A

1491

P35498
KSFAVGMFKGQLTTD

ACADVL

71

P49748
FMDRKKGFTEVKSQN

CALD1

481

Q05682
KGFTEVKSQNGEFMT

CALD1

486

Q05682
QVTNSMFGASRKKFV

CNOT2

16

Q9NZN8
NKFKNMFLVGEGDSV

PSIP1

421

O75475
GKSFMKEFQSDGSKQ

THOC2

456

Q8NI27
ATKAEQAEGMEFGFK

PRX

786

Q9BXM0
KKFGGQDIFMTEEQK

SCN2A

1481

Q99250
NEIFNGTKMFVSESK

RP2

316

O75695
MKFVSDGSINKAGFA

TLL2

556

Q9Y6L7
TKMFKEQGFGSRQTN

NUP188

236

Q5SRE5
KKKFGGQDIFMTEEQ

SCN8A

1471

Q9UQD0
DKNGFSLGFSKNMRQ

ZDHHC2

256

Q9UIJ5
SLGFSKNMRQVFGDE

ZDHHC2

261

Q9UIJ5
NRKMVTFKFDLDGDN

WNK1

1141

Q9H4A3
VGNMDTFTKIQRKDF

TLR2

156

O60603
GSKSDKMNIFGGFRQ

SLC25A24

226

Q6NUK1
SFQKDMVGEFTRDGS

ZNF175

116

Q9Y473
TFNDMKNVPEAFKGT

WBP2

31

Q969T9
MQRNGISKLKDGAFF

LRIG2

246

O94898
NRSFQGKESIFGDNM

GRIN2A

946

Q12879