Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionsodium ion binding

SCN1A SCN2A SCN8A

2.67e-0614403GO:0031402
GeneOntologyMolecularFunctionvoltage-gated sodium channel activity

SCN1A SCN2A SCN8A

1.88e-0526403GO:0005248
GeneOntologyMolecularFunctionalkali metal ion binding

SCN1A SCN2A SCN8A

1.88e-0526403GO:0031420
GeneOntologyMolecularFunctiontransmembrane transporter activity

SLC6A3 OCA2 PKD1L3 RHBG ABCA13 SCN1A SCN2A SLC22A2 ABCB4 SCN8A

8.31e-0511804010GO:0022857
GeneOntologyMolecularFunctionsodium channel activity

SCN1A SCN2A SCN8A

1.54e-0452403GO:0005272
GeneOntologyMolecularFunctiontransporter activity

SLC6A3 OCA2 PKD1L3 RHBG ABCA13 SCN1A SCN2A SLC22A2 ABCB4 SCN8A

1.73e-0412894010GO:0005215
GeneOntologyMolecularFunctionmonoamine transmembrane transporter activity

SLC6A3 SLC22A2

2.55e-0412402GO:0008504
GeneOntologyMolecularFunctionsodium ion transmembrane transporter activity

SLC6A3 SCN1A SCN2A SCN8A

3.73e-04171404GO:0015081
GeneOntologyMolecularFunctionvoltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

SCN1A SCN2A

5.22e-0417402GO:0099508
GeneOntologyMolecularFunctionchannel activity

OCA2 PKD1L3 RHBG SCN1A SCN2A SCN8A

5.76e-04525406GO:0015267
GeneOntologyMolecularFunctionpassive transmembrane transporter activity

OCA2 PKD1L3 RHBG SCN1A SCN2A SCN8A

5.82e-04526406GO:0022803
GeneOntologyMolecularFunctioninorganic molecular entity transmembrane transporter activity

SLC6A3 OCA2 PKD1L3 RHBG SCN1A SCN2A SCN8A

6.90e-04758407GO:0015318
GeneOntologyMolecularFunctionneurotransmitter transmembrane transporter activity

SLC6A3 SLC22A2

8.02e-0421402GO:0005326
GeneOntologyMolecularFunctioninorganic cation transmembrane transporter activity

SLC6A3 PKD1L3 RHBG SCN1A SCN2A SCN8A

1.45e-03627406GO:0022890
GeneOntologyMolecularFunctionmonoatomic ion channel activity

OCA2 PKD1L3 SCN1A SCN2A SCN8A

2.13e-03459405GO:0005216
GeneOntologyMolecularFunctionmetal ion transmembrane transporter activity

SLC6A3 PKD1L3 SCN1A SCN2A SCN8A

2.25e-03465405GO:0046873
GeneOntologyMolecularFunctionABC-type transporter activity

ABCA13 ABCB4

4.34e-0349402GO:0140359
GeneOntologyMolecularFunctionmonoatomic ion transmembrane transporter activity

SLC6A3 OCA2 PKD1L3 SCN1A SCN2A SCN8A

4.66e-03793406GO:0015075
GeneOntologyMolecularFunctionmonoatomic cation channel activity

PKD1L3 SCN1A SCN2A SCN8A

4.80e-03343404GO:0005261
GeneOntologyBiologicalProcessmembrane depolarization during action potential

SCN1A SCN2A SCN8A

4.97e-0536413GO:0086010
GeneOntologyBiologicalProcessactin-mediated cell contraction

DBN1 SCN1A SCN2A SCN8A

1.16e-04127414GO:0070252
GeneOntologyBiologicalProcessnorepinephrine uptake

SLC6A3 SLC22A2

1.38e-049412GO:0051620
GeneOntologyBiologicalProcessactin filament-based movement

DBN1 SCN1A SCN2A SCN8A

2.38e-04153414GO:0030048
GeneOntologyBiologicalProcesslocomotory behavior

SLC6A3 ASTN1 DBN1 SCN1A SCN8A

2.39e-04284415GO:0007626
GeneOntologyBiologicalProcesscardiac muscle cell action potential involved in contraction

SCN1A SCN2A SCN8A

2.54e-0462413GO:0086002
GeneOntologyBiologicalProcessneuronal action potential

SCN1A SCN2A SCN8A

2.66e-0463413GO:0019228
GeneOntologyCellularComponentvoltage-gated sodium channel complex

SCN1A SCN2A SCN8A

4.67e-0617413GO:0001518
GeneOntologyCellularComponentnode of Ranvier

SCN1A SCN2A SCN8A

7.80e-0620413GO:0033268
GeneOntologyCellularComponentpresynaptic membrane

SLC6A3 AFDN SCN1A SCN2A SLC22A2 SCN8A

1.56e-05277416GO:0042734
GeneOntologyCellularComponentaxon initial segment

SCN1A SCN2A SCN8A

2.47e-0529413GO:0043194
GeneOntologyCellularComponentsodium channel complex

SCN1A SCN2A SCN8A

2.47e-0529413GO:0034706
GeneOntologyCellularComponentsynaptic membrane

SLC6A3 AFDN DBN1 SCN1A SCN2A SLC22A2 SCN8A

1.25e-04583417GO:0097060
GeneOntologyCellularComponentmain axon

SCN1A SCN2A SCN8A

7.07e-0489413GO:0044304
GeneOntologyCellularComponentcell-cell contact zone

AFDN SCN1A SCN2A

8.29e-0494413GO:0044291
GeneOntologyCellularComponentcation channel complex

PKD1L3 SCN1A SCN2A SCN8A

1.14e-03235414GO:0034703
GeneOntologyCellularComponentexcitatory synapse

AFDN DBN1 SCN8A

1.21e-03107413GO:0060076
GeneOntologyCellularComponentpresynapse

SLC6A3 AFDN SGTA SCN1A SCN2A SLC22A2 SCN8A

1.53e-03886417GO:0098793
GeneOntologyCellularComponentaxonemal A tubule inner sheath

EFHC1 EFCAB6

1.79e-0332412GO:0160111
GeneOntologyCellularComponentaxonemal microtubule doublet inner sheath

EFHC1 EFCAB6

3.68e-0346412GO:0160110
GeneOntologyCellularComponentA axonemal microtubule

EFHC1 EFCAB6

3.84e-0347412GO:0097649
GeneOntologyCellularComponentaxonemal doublet microtubule

EFHC1 EFCAB6

4.16e-0349412GO:0097545
HumanPhenoFocal automatism seizure

SCN1A SCN2A SCN8A

2.82e-0612133HP:0032898
HumanPhenoPhotosensitive tonic-clonic seizure

EFHC1 SCN1A SCN2A

5.81e-0615133HP:0007207
HumanPhenoComplex febrile seizure

SCN1A SCN2A SCN8A

7.14e-0616133HP:0011172
HumanPhenoVisually-induced seizure

EFHC1 SCN1A SCN2A

1.04e-0518133HP:0020216
HumanPhenoMyoclonus

POMGNT1 CTSF OCA2 EFHC1 SCN1A SCN2A SCN8A

1.20e-05371137HP:0001336
HumanPhenoReflex seizure

EFHC1 SCN1A SCN2A

1.95e-0522133HP:0020207
HumanPhenoFocal hemiclonic seizure

SCN1A SCN2A SCN8A

2.89e-0525133HP:0006813
HumanPhenoEEG with spike-wave complexes (>3.5 Hz)

EFHC1 SCN1A

3.60e-054132HP:0010849
HumanPhenoSimple febrile seizure

SCN1A SCN2A SCN8A

3.67e-0527133HP:0011171
HumanPhenoTremor

SLC6A3 PIGN CTSF OCA2 SCN1A SCN2A ABCB4 SCN8A

4.24e-05639138HP:0001337
HumanPhenoEEG with spike-wave complexes

EFHC1 SCN1A SCN2A SCN8A

5.28e-0588134HP:0010850
HumanPhenoNeonatal electro-clinical non-motor seizure

SCN2A SCN8A

5.99e-055132HP:0032812
HumanPhenoNeonatal seizure with electrographic correlate

SCN2A SCN8A

5.99e-055132HP:0032808
HumanPhenoNeonatal electro-clinical seizure

SCN2A SCN8A

5.99e-055132HP:0032809
HumanPhenoNeonatal electro-clinical seizure with behavior arrest

SCN2A SCN8A

5.99e-055132HP:0032823
HumanPhenoFocal head nodding automatism seizure

SCN2A SCN8A

5.99e-055132HP:0032906
HumanPhenoCogwheel rigidity

SLC6A3 SCN1A SCN2A

6.17e-0532133HP:0002396
HumanPhenoObsessive-compulsive trait

OCA2 SCN1A SCN2A

6.78e-0533133HP:0008770
HumanPhenoGeneralized clonic seizure

SCN1A SCN2A SCN8A

7.43e-0534133HP:0011169
HumanPhenoAbnormal circulating inhibin level

POR OCA2

8.97e-056132HP:0031099
HumanPhenoDecreased circulating inhibin B concentration

POR OCA2

8.97e-056132HP:0031100
HumanPhenoNormal interictal EEG

SCN2A SCN8A

8.97e-056132HP:0002372
HumanPhenoAbnormal circulating inhibin B concentration

POR OCA2

8.97e-056132HP:0430147
HumanPhenoInvoluntary movements

SLC6A3 PIGN POMGNT1 CTSF OCA2 EFHC1 SCN1A SCN2A ABCB4 SCN8A

1.03e-0412481310HP:0004305
HumanPhenoHyperkinetic movements

SLC6A3 SCN1A SCN2A

1.22e-0440133HP:0002487
HumanPhenoFocal non-motor seizure

SCN1A SCN2A SCN8A

1.22e-0440133HP:0032679
HumanPhenoEyelid myoclonia seizure

SCN2A SCN8A

1.25e-047132HP:0032678
HumanPhenoFocal clonic seizure

SCN1A SCN2A SCN8A

1.41e-0442133HP:0002266
HumanPhenoIntellectual disability, severe

POMGNT1 OCA2 CAMK2G SCN1A SCN2A SCN8A

1.58e-04371136HP:0010864
HumanPhenoPhotosensitive myoclonic seizure

SCN1A SCN2A

1.67e-048132HP:0001327
HumanPhenoCyanotic episode

SCN1A SCN2A

1.67e-048132HP:0200048
HumanPhenoChoreoathetosis

PIGN SCN1A SCN2A SCN8A

1.96e-04123134HP:0001266
HumanPhenoChorea

SLC6A3 PIGN SCN1A SCN2A SCN8A

2.45e-04248135HP:0002072
HumanPhenoBilateral tonic-clonic seizure with focal onset

SCN1A SCN2A SCN8A

2.67e-0452133HP:0007334
HumanPhenoBilateral tonic-clonic seizure with generalized onset

EFHC1 SCN1A SCN2A

2.67e-0452133HP:0025190
HumanPhenoSudden unexpected death in epilepsy

SCN1A SCN8A

2.67e-0410132HP:0033258
HumanPhenoNeonatal seizure

SCN2A SCN8A

3.26e-0411132HP:0032807
HumanPhenoLimited neck range of motion

SCN1A SCN2A

3.26e-0411132HP:0000466
HumanPhenoInfection-related seizure

EFHC1 SCN1A SCN2A SCN8A

3.69e-04145134HP:0032892
HumanPhenoSeizure precipitated by febrile infection

EFHC1 SCN1A SCN2A SCN8A

3.69e-04145134HP:0032894
HumanPhenoFebrile seizure (within the age range of 3 months to 6 years)

EFHC1 SCN1A SCN2A SCN8A

3.69e-04145134HP:0002373
HumanPhenoEpilepsia partialis continua

SCN1A SCN2A

3.91e-0412132HP:0012847
HumanPhenoGeneralized myoclonic seizure

EFHC1 SCN1A SCN2A SCN8A

3.99e-04148134HP:0002123
HumanPhenoGeneralized cerebral atrophy/hypoplasia

SCN1A SCN2A

4.62e-0413132HP:0007058
HumanPhenoGeneralized tonic seizure

SCN1A SCN2A SCN8A

4.95e-0464133HP:0010818
HumanPhenoCompulsive behaviors

OCA2 SCN1A SCN2A SCN8A

5.12e-04158134HP:0000722
HumanPhenoMultifocal epileptiform discharges

SCN1A SCN2A SCN8A

5.42e-0466133HP:0010841
HumanPhenoAthetosis

PIGN SCN1A SCN2A SCN8A

6.18e-04166134HP:0002305
HumanPhenoAortopulmonary collateral arteries

SCN1A SCN2A

6.20e-0415132HP:0031834
HumanPhenoFacial tics

SCN1A SCN2A

6.20e-0415132HP:0011468
HumanPhenoDysgenesis of the hippocampus

SCN1A SCN2A

7.07e-0416132HP:0025101
HumanPhenoGeneralized non-motor (absence) seizure

EFHC1 SCN1A SCN2A SCN8A

7.71e-04176134HP:0002121
HumanPhenoFocal motor status epilepticus

SCN1A SCN2A

8.00e-0417132HP:0032663
HumanPhenoAtypical absence status epilepticus

SCN1A SCN2A

8.00e-0417132HP:0011151
HumanPhenoFocal emotional seizure with laughing

SCN1A SCN2A

8.00e-0417132HP:0010821
HumanPhenoBroad foot

PIGN POR OCA2 CAMK2G

8.22e-04179134HP:0001769
HumanPhenoGeneralized non-convulsive status epilepticus without coma

SCN1A SCN2A

8.99e-0418132HP:0032860
HumanPhenoFocal emotional seizure

SCN1A SCN2A

8.99e-0418132HP:0025613
HumanPhenoAggressive behavior

OCA2 EFHC1 CAMK2G SCN1A SCN2A SCN8A

9.66e-04516136HP:0000718
HumanPhenoAbnormal aggressive, impulsive or violent behavior

OCA2 EFHC1 CAMK2G SCN1A SCN2A SCN8A

9.66e-04516136HP:0006919
HumanPhenoClonic seizure

SCN1A SCN2A SCN8A

9.88e-0481133HP:0020221
HumanPhenoAbnormality of central nervous system electrophysiology

PIGN POMGNT1 OCA2 EFHC1 SCN1A SCN2A SCN8A

1.01e-03738137HP:0030178
HumanPhenoNon-convulsive status epilepticus without coma

SCN1A SCN2A

1.11e-0320132HP:0032671
HumanPhenoPsychomotor deterioration

SCN2A SCN8A

1.11e-0320132HP:0002361
HumanPhenoNon-motor seizure

EFHC1 SCN1A SCN2A SCN8A

1.18e-03197134HP:0033259
HumanPhenoTalipes valgus

SCN1A SCN2A

1.23e-0321132HP:0004684
HumanPhenoEEG with abnormally slow frequencies

OCA2 SCN1A SCN8A

1.26e-0388133HP:0011203
HumanPhenoEEG abnormality

POMGNT1 OCA2 EFHC1 SCN1A SCN2A SCN8A

1.33e-03548136HP:0002353
HumanPhenoFocal sensory seizure

SCN1A SCN8A

1.35e-0322132HP:0011157
HumanPhenoStatus epilepticus

EFHC1 SCN1A SCN2A SCN8A

1.42e-03207134HP:0002133
HumanPhenoVertical nystagmus

PIGN SCN1A

1.48e-0323132HP:0010544
HumanPhenoFocal tonic seizure

SCN2A SCN8A

1.48e-0323132HP:0011167
HumanPhenoTibial torsion

SCN1A SCN2A

1.48e-0323132HP:0100694
HumanPhenoRigidity

SLC6A3 SCN1A SCN2A SCN8A

1.61e-03214134HP:0002063
HumanPhenoIntellectual disability, borderline

OCA2 SCN8A

1.75e-0325132HP:0006889
HumanPhenoEpileptic aura

SCN1A SCN8A

1.75e-0325132HP:0033348
HumanPhenoGeneralized-onset motor seizure

EFHC1 SCN1A SCN2A SCN8A

2.03e-03228134HP:0032677
HumanPhenoLimited knee extension

SCN1A SCN2A

2.04e-0327132HP:0003066
HumanPhenoStatus epilepticus without prominent motor symptoms

SCN1A SCN2A

2.04e-0327132HP:0031475
HumanPhenoBilateral tonic-clonic seizure

CTSF EFHC1 SCN1A SCN2A SCN8A

2.06e-03394135HP:0002069
HumanPhenoFocal aware seizure

SCN1A SCN2A

2.19e-0328132HP:0002349
HumanPhenoAbnormal tibia morphology

POR SCN1A SCN2A

2.21e-03107133HP:0002992
HumanPhenoIntellectual disability, profound

POMGNT1 SCN1A SCN8A

2.33e-03109133HP:0002187
HumanPhenoStatus epilepticus with prominent motor symptoms

SCN1A SCN2A

2.35e-0329132HP:0032658
HumanPhenoLimb myoclonus

SCN2A SCN8A

2.35e-0329132HP:0045084
HumanPhenoProgressive gait ataxia

SCN1A SCN2A

2.51e-0330132HP:0007240
HumanPhenoProgressive ataxia

SCN1A SCN2A

2.51e-0330132HP:0001329
HumanPhenoPallor

PIGN POMGNT1 OCA2 SCN1A SCN2A

2.66e-03417135HP:0000980
HumanPhenoAbnormal lower limb bone morphology

PIGN POR POMGNT1 OCA2 CAMK2G SCN1A SCN2A

2.66e-03866137HP:0040069
MousePhenoenhanced behavioral response to anesthetic

POR SCN8A

5.72e-055342MP:0009779
MousePhenoparaparesis

CTSF ARHGAP10 SCN8A

6.21e-0532343MP:0009434
MousePhenohindlimb paresis

CTSF ARHGAP10 SCN8A

9.65e-0537343MP:0031204
DomainNa_trans_cytopl

SCN1A SCN2A SCN8A

1.95e-076413PF11933
DomainNa_trans_cytopl

SCN1A SCN2A SCN8A

1.95e-076413IPR024583
DomainNa_channel_asu

SCN1A SCN2A SCN8A

1.17e-0610413IPR001696
DomainNa_trans_assoc

SCN1A SCN2A SCN8A

1.17e-0610413IPR010526
DomainNa_trans_assoc

SCN1A SCN2A SCN8A

1.17e-0610413PF06512
DomainChannel_four-helix_dom

SCN1A SCN2A SCN8A

2.65e-0457413IPR027359
Domain-

SCN1A SCN2A SCN8A

2.65e-04574131.20.120.350
DomainIQ

SCN1A SCN2A SCN8A

7.44e-0481413SM00015
DomainIQ_motif_EF-hand-BS

SCN1A SCN2A SCN8A

1.01e-0390413IPR000048
DomainIQ

SCN1A SCN2A SCN8A

1.11e-0393413PS50096
DomainIon_trans_dom

SCN1A SCN2A SCN8A

1.99e-03114413IPR005821
DomainIon_trans

SCN1A SCN2A SCN8A

1.99e-03114413PF00520
DomainEF-hand-dom_pair

EFHC1 EFCAB6 SCN1A SCN8A

3.54e-03287414IPR011992
DomainAAA+_ATPase

DNAH2 ABCA13 ABCB4

3.86e-03144413IPR003593
DomainAAA

DNAH2 ABCA13 ABCB4

3.86e-03144413SM00382
DomainABC_TRANSPORTER_2

ABCA13 ABCB4

4.98e-0348412PS50893
DomainABC_tran

ABCA13 ABCB4

4.98e-0348412PF00005
DomainABC_TRANSPORTER_1

ABCA13 ABCB4

5.18e-0349412PS00211
DomainABC_transporter-like

ABCA13 ABCB4

5.39e-0350412IPR003439
PathwayREACTOME_PHASE_0_RAPID_DEPOLARISATION

CAMK2G SCN1A SCN2A SCN8A

8.54e-0732334M27455
PathwayWP_DRAVET_SYNDROME

SCN1A SCN2A SCN8A

3.68e-0528333M45519
PathwayREACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS

SCN1A SCN2A SCN8A

5.02e-0531333M877
PathwayREACTOME_NEUROTRANSMITTER_CLEARANCE

SLC6A3 SLC22A2

1.47e-048332MM14500
PathwayWP_RETT_SYNDROME

SCN1A SCN2A SCN8A

1.88e-0448333M39759
PathwayREACTOME_CARDIAC_CONDUCTION

CAMK2G SCN1A SCN2A SCN8A

2.30e-04130334M27454
PathwayREACTOME_NEUROTRANSMITTER_CLEARANCE

SLC6A3 SLC22A2

2.88e-0411332M26914
PathwayREACTOME_TRANSPORT_OF_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS

SLC6A3 RHBG SLC22A2

7.31e-0476333MM15072
PathwayREACTOME_NA_CL_DEPENDENT_NEUROTRANSMITTER_TRANSPORTERS

SLC6A3 SLC22A2

8.86e-0419332MM15107
PathwayREACTOME_NA_CL_DEPENDENT_NEUROTRANSMITTER_TRANSPORTERS

SLC6A3 SLC22A2

8.86e-0419332M27362
PathwayREACTOME_TRANSPORT_OF_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS

SLC6A3 RHBG SLC22A2

9.79e-0484333M27334
PathwayREACTOME_MUSCLE_CONTRACTION

CAMK2G SCN1A SCN2A SCN8A

1.23e-03203334M5485
Pubmed

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

SCN1A SCN2A SCN8A

1.52e-09341317928448
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

1.52e-09341332845893
Pubmed

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

SCN1A SCN2A SCN8A

1.52e-09341328518218
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 SCN8A

6.08e-09441317537961
Pubmed

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

SCN1A SCN2A SCN8A

6.08e-09441335031483
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 SCN8A

6.08e-09441329578003
Pubmed

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

SCN1A SCN2A SCN8A

6.08e-09441321156207
Pubmed

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

SCN1A SCN2A SCN8A

3.03e-08641323652591
Pubmed

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

SCN1A SCN2A SCN8A

5.30e-08741325818041
Pubmed

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

SCN1A SCN2A SCN8A

1.27e-07941315746173
Pubmed

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

SCN1A SCN2A SCN8A

1.27e-07941316382098
Pubmed

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

SCN1A SCN2A SCN8A

3.32e-071241330175250
Pubmed

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

SCN1A SCN2A SCN8A

4.31e-071341315123669
Pubmed

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

SCN1A SCN2A

1.36e-06241229649454
Pubmed

Sodium channel expression within chronic multiple sclerosis plaques.

SCN2A SCN8A

1.36e-06241217805013
Pubmed

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

SCN1A SCN2A

1.36e-06241226311622
Pubmed

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

SCN1A SCN8A

1.36e-06241237901435
Pubmed

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

SCN1A SCN8A

1.36e-06241233411788
Pubmed

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

SCN1A SCN8A

1.36e-06241226410685
Pubmed

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

SCN1A SCN8A

1.36e-06241231943325
Pubmed

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

SCN1A SCN2A

1.36e-06241210827969
Pubmed

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

SCN1A SCN2A

1.36e-06241215249644
Pubmed

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

SCN1A SCN2A

1.36e-06241219694741
Pubmed

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

SCN2A SCN8A

1.36e-06241235348308
Pubmed

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

SCN2A SCN8A

1.36e-06241215760941
Pubmed

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

SCN1A SCN2A

1.36e-06241221377452
Pubmed

Differential expression of two sodium channel subtypes in human brain.

SCN1A SCN2A

1.36e-0624121317301
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

1.36e-06241218601978
Pubmed

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

SCN1A SCN2A

1.36e-06241233096315
Pubmed

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

SCN2A SCN8A

1.36e-06241219465131
Pubmed

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

SCN1A SCN2A

1.36e-06241231439038
Pubmed

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

SCN1A SCN8A

1.36e-06241237665666
Pubmed

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

SCN1A SCN8A

1.36e-06241217881658
Pubmed

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

SCN1A SCN2A

1.36e-06241230693367
Pubmed

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

SCN2A SCN8A

1.36e-06241223735284
Pubmed

Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.

SCN1A SCN8A

4.06e-06341224704313
Pubmed

Gene-to-gene interaction between sodium channel-related genes in determining the risk of antiepileptic drug resistance.

SCN1A SCN2A

4.06e-06341219270815
Pubmed

Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2.

SCN1A SCN2A

4.06e-06341228784306
Pubmed

Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy.

SCN1A SCN2A

4.06e-06341232185219
Pubmed

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

SCN1A SCN2A

4.06e-06341212610651
Pubmed

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

SCN1A SCN2A

4.06e-06341232005694
Pubmed

Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy.

SCN1A SCN2A

4.06e-06341225155934
Pubmed

The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels.

SCN1A SCN8A

4.06e-06341228117367
Pubmed

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

SCN1A SCN2A

4.06e-06341223859570
Pubmed

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

SCN1A SCN2A

4.06e-06341214973256
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

4.06e-06341218784617
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

4.06e-06341217544618
Pubmed

Experimental and computational evidence that Calpain-10 binds to the carboxy terminus of NaV1.2 and NaV1.6.

SCN2A SCN8A

4.06e-06341238514708
Pubmed

Human Nav1.6 Channels Generate Larger Resurgent Currents than Human Nav1.1 Channels, but the Navβ4 Peptide Does Not Protect Either Isoform from Use-Dependent Reduction.

SCN1A SCN8A

4.06e-06341226182346
Pubmed

Where is the spike generator of the cochlear nerve? Voltage-gated sodium channels in the mouse cochlea.

SCN2A SCN8A

4.06e-06341216033895
Pubmed

Role of sodium channel subtype in action potential generation by neocortical pyramidal neurons.

SCN2A SCN8A

4.06e-06341229991598
Pubmed

De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.

SCN1A SCN8A

4.06e-06341231054517
Pubmed

Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis.

POR ABCB4

4.06e-06341225068656
Pubmed

The Effect of Ca2+, Lobe-Specificity, and CaMKII on CaM Binding to NaV1.1.

CAMK2G SCN1A

4.06e-06341230142967
Pubmed

Drebrin preserves endothelial integrity by stabilizing nectin at adherens junctions.

AFDN DBN1

4.06e-06341223750010
Pubmed

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

SCN1A SCN2A

8.12e-06441226637798
Pubmed

Models for discovery of targeted therapy in genetic epileptic encephalopathies.

SCN1A SCN8A

8.12e-06441228742937
Pubmed

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

SCN1A SCN2A

8.12e-06441235801810
Pubmed

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

SCN1A SCN2A

8.12e-0644128974318
Pubmed

Interaction between the transcriptional corepressor Sin3B and voltage-gated sodium channels modulates functional channel expression.

SCN2A SCN8A

1.35e-05541224077057
Pubmed

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

SCN1A SCN2A

1.35e-0554121679748
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

1.35e-0554128812438
Pubmed

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

SCN1A SCN2A

1.35e-05541224337656
Pubmed

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

SCN2A SCN8A

1.35e-05541217724025
Pubmed

Are voltage-dependent ion channels involved in the endothelial cell control of vasomotor tone?

SCN2A SCN8A

2.03e-05641217513486
Pubmed

Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes.

SCN1A SCN8A

2.84e-05741215272007
Pubmed

IRIP, a new ischemia/reperfusion-inducible protein that participates in the regulation of transporter activity.

SLC6A3 SLC22A2

4.86e-05941216024787
Pubmed

Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals.

SCN1A SCN8A

4.86e-05941217884088
Pubmed

Common variants associated with general and MMR vaccine-related febrile seizures.

SCN1A SCN2A

6.07e-051041225344690
Pubmed

Genetic profile of patients with epilepsy on first-line antiepileptic drugs and potential directions for personalized treatment.

SCN1A SCN2A

6.07e-051041220602612
Pubmed

Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse.

OCA2 MGRN1

7.41e-05114128812411
Pubmed

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

SCN1A SCN2A

8.88e-05124128169823
Pubmed

WAVE1 is required for oligodendrocyte morphogenesis and normal CNS myelination.

SCN2A SCN8A

1.05e-041341216723544
Pubmed

Pigmentation-related genes and their implication in malignant melanoma susceptibility.

OCA2 MGRN1

1.22e-041441219320733
Pubmed

Confirmation of quantitative trait loci for alcohol preference in mice.

SCN1A SCN2A

1.41e-04154129726281
Pubmed

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

NOL11 SCN1A

1.41e-041541224623842
Pubmed

Rapid and Integrative Discovery of Retina Regulatory Molecules.

DBN1 ABCA13

1.61e-041641230157441
Pubmed

Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice.

SCN2A SCN8A

2.05e-041841237321992
Pubmed

In silico QTL mapping of basal liver iron levels in inbred mouse strains.

SLC22A2 MAP3K4

2.81e-042141221062905
Pubmed

Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A.

SLC6A3 SCN8A

5.03e-042841219352218
Pubmed

Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease.

AFDN DBN1 SGTA CAMK2G

6.91e-0434141429791485
Pubmed

De novo protein identification in mammalian sperm using in situ cryoelectron tomography and AlphaFold2 docking.

EFHC1 EFCAB6

7.87e-043541237865089
Pubmed

In-cell structural insight into the stability of sperm microtubule doublet.

EFHC1 EFCAB6

8.33e-043641237989994
Pubmed

Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain.

DBN1 CAMK2G

9.77e-043941222802532
InteractionSCN4B interactions

SCN1A SCN2A SCN8A

4.35e-078413int:SCN4B
InteractionSCN11A interactions

DBN1 SCN1A SCN8A

3.50e-0615413int:SCN11A
Cytoband2q24.3

SCN1A SCN2A

9.26e-05164122q24.3
Cytoband16q22.2

PKD1L3 TXNL4B

1.78e-042241216q22.2
Cytoband9p24.1

KDM4C PLPP6

4.29e-04344129p24.1
GeneFamilySodium voltage-gated channel alpha subunits

SCN1A SCN2A SCN8A

4.20e-0793231203
CoexpressionGSE36392_EOSINOPHIL_VS_MAC_IL25_TREATED_LUNG_UP

SLC6A3 PLEKHH2 ARHGAP10 SLC22A2 ABCB4

1.47e-05200415M5280
ToppCellControl-Epithelial-Ciliated|Epithelial / Disease state, Lineage and Cell class

DNAH2 EFHC1 EFCAB6 MORN2 ABCA13

9.12e-071934150e37d454f3735edd936ee9a5f5f516ac3aad400e
ToppCellPBMC_fresh-frozen-Mild-Moderate_progression_d12-25-Lymphocytic-Lymphocytic_T-mature_alpha-beta_T_cell-T_CD4_c03-ITGA4|Mild-Moderate_progression_d12-25 / Compartment, severity and other cell annotations on 10x 3' data (130k)

AFDN SLFN12L C1QTNF1 GLB1L3

1.79e-05170414adb625124832b0786a590e8f75b61e7263a1e0d4
ToppCellPND03-Immune-Immune_Myeloid-Megakaryocyte/Platelet|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

SLC6A3 PKD1L3 ABCB4 NLRP6

1.87e-05172414e39ea2f4edbf36ebf9604fa6f9349081859c596c
ToppCellPND03-Immune-Immune_Myeloid-Megakaryocyte/Platelet-Megakaryocyte/Platelet-Megakaryocyte/Platelet_mature|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

SLC6A3 PKD1L3 ABCB4 NLRP6

1.87e-05172414bcc50bed47465daa953ba91f17d1ee4c947ab461
ToppCellPND03-Immune-Immune_Myeloid-Megakaryocyte/Platelet-Megakaryocyte/Platelet|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

SLC6A3 PKD1L3 ABCB4 NLRP6

1.87e-05172414875ea290840e835952623b905eb610f3c71456d2
ToppCell3'-Distal_airway-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.3.0|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2 ABCA13

1.91e-05173414c3762655caa79ac4879876f470d32578a3c93b01
ToppCell3'-Broncho-tracheal-Epithelial-Airway_ciliated-multi-ciliated_epithelial_cell-Multiciliated_(nasal)-Multiciliated_(nasal)_L.0.3.1.1|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 RHBG ABCA13

2.14e-051784143b12db04006db6e94fc45649a4b3a63b92f21a61
ToppCellrenal_cortex_nuclei-Adult_normal_reference-Epithelial-Renal_corpuscle_epithelial_cell-parietal_epithelial_cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 OCA2 PLEKHH2 ARHGAP10

2.28e-051814145f2d3a08577c440c944778d07aa993c6e7873f3d
ToppCellrenal_cortex_nuclei-Adult_normal_reference-Epithelial-Renal_corpuscle_epithelial_cell-parietal_epithelial_cell-Parietal_Epithelial_Cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 OCA2 PLEKHH2 ARHGAP10

2.28e-05181414c7c5f7d4c397b4613c772413a0a679377efffff3
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MELTF EFCAB6 ABCA13 SCN2A

2.44e-05184414ea7a7e2bac46d4d2c31a5d576b38a032b5335062
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-thymocyte|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MELTF EFCAB6 ABCA13 SCN2A

2.44e-051844142cbed6462fea2622871bb7e49b0df3d984239281
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

MELTF EFCAB6 ABCA13 SCN2A

2.44e-051844142b19a8c5f823e00812908b23e66bb4e563278aff
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated-multi-ciliated_epithelial_cell-Multiciliated_(nasal)|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

EFHC1 MORN2 ABCA13 SLC22A2

2.71e-05189414b4b93bd10b7e3cc16e54ff73beac230f519c010a
ToppCellCOPD-Epithelial-Ciliated|Epithelial / Disease state, Lineage and Cell class

DNAH2 EFHC1 EFCAB6 ABCA13

2.71e-051894143e77883db34722b9ce0a03ea74caefc92dc7feff
ToppCellIPF-Epithelial-Ciliated|Epithelial / Disease state, Lineage and Cell class

DNAH2 EFHC1 EFCAB6 MORN2

2.94e-05193414ad58f5080e0ba65c845056ea6b79037b636e9c64
ToppCell3'-Broncho-tracheal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.3.0|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 EFCAB6 ABCA13

3.00e-051944144a2c127c90d1fefe604fcb9e796577d21b489dd6
ToppCell3'-Airway_Nasal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2 ABCA13

3.06e-05195414649fd2336e963f6a150d182a53ad5dd838ca80b1
ToppCell3'-Airway_Nasal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2 ABCA13

3.06e-05195414129ad5f4253ecb1a8477cc38773e6e91ea9570b0
ToppCell3'-Airway_Nasal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.0.0|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2 ABCA13

3.06e-051954143e70ee987d66d450062d5df3d7c733ccc7344470
ToppCellPrimary_Visual_cortex_(V1C)-Neuronal-Glutamatergic_Excit-Glut_C-D_(RORB)|Primary_Visual_cortex_(V1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

PLEKHH2 ARHGAP10 SCN1A SCN2A

3.06e-05195414787e95fb59c40bba784544b662fac37606ae1427
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2 ABCA13

3.18e-0519741487db09f341e2b20eb6e1c3e917cb5c960387b3e9
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2 ABCA13

3.18e-0519741491637bdeab85024b5a02d1066f76cb803a2d6420
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2 ABCA13

3.18e-0519741422c87dd15dc57bd0aa98a204c9fc9b3b9b573b45
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.0.0|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2 ABCA13

3.18e-051974143bbf068d2ad8196fbc85d3f311a7c54c9aece856
ToppCellSmart-start-Cell-Wel_seq-Non-neoplastic-Glial-Neuronal-OPC-OPC-G|Smart-start-Cell-Wel_seq / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

ASTN1 PLEKHH2 SCN1A SCN2A

3.31e-0519941419a97e27a4758e794ce7246d295e112b47931a48
ToppCellMacroglial-Polydendrocytes-PDGFRA---|Macroglial / cells hierarchy compared to all cells using T-Statistic

PLEKHH2 ARHGAP10 SCN1A SCN2A

3.37e-052004144fc3de4bff7ed2bf40b38462c4b4e9b87af6a4ca
ToppCellMacroglial-Polydendrocytes-PDGFRA-|Macroglial / cells hierarchy compared to all cells using T-Statistic

PLEKHH2 ARHGAP10 SCN1A SCN2A

3.37e-05200414f17b5a54e8f9eba9dcd0808ba4e8d275ac41bce2
ToppCellMacroglial-Polydendrocytes-PDGFRA--|Macroglial / cells hierarchy compared to all cells using T-Statistic

PLEKHH2 ARHGAP10 SCN1A SCN2A

3.37e-05200414cc3409518f8b436ea92deb955e81114b3f410ff7
ToppCellMacroglial-Polydendrocytes-PDGFRA----L1-6|Macroglial / cells hierarchy compared to all cells using T-Statistic

PLEKHH2 ARHGAP10 SCN1A SCN2A

3.37e-05200414310cd53db1c137f6af74e6ae682221d7ac27310c
ToppCellMacroglial-Polydendrocytes-PDGFRA|Macroglial / cells hierarchy compared to all cells using T-Statistic

PLEKHH2 ARHGAP10 SCN1A SCN2A

3.37e-05200414c24a3099e3d96d8b72f6d05286bb355d661a0377
ToppCellMacroglial-Polydendrocytes|Macroglial / cells hierarchy compared to all cells using T-Statistic

PLEKHH2 ARHGAP10 SCN1A SCN2A

3.37e-05200414961858738ce35db8760c8c2e136f8369bc444ccf
ToppCellTCGA-Lung-Primary_Tumor-Lung_Carcinoma-Lung_Nonmucinous_Lepidic_Adenocarcinoma-7|TCGA-Lung / Sample_Type by Project: Shred V9

DNAH2 GLB1L3 MGRN1

2.32e-0413041317a4ee699adfa265335b1abfe6cb0f3f7c93362b
ToppCell3'-GW_trimst-2-SmallIntestine-Mesenchymal-immature_mesenchymal_cell-Mesoderm_1_(HAND1+)|GW_trimst-2 / Celltypes from developing, pediatric, Crohn's, & adult GI tract

PLEKHH2 EFCAB6 ABCA13

2.59e-041354135113bb1713f99d01103b9a99de5d80393081cf87
ToppCellPND07-28-samps-Mesenchymal-Mesenchymal_stem_cell|PND07-28-samps / Age Group, Lineage, Cell class and subclass

MCF2 TXNL4B SCN1A

2.71e-04137413ed81624b9167255ce88dcf6ad7f1636376ea0525
ToppCellPND07-28-samps-Mesenchymal-Mesenchymal_stem_cell-Mesenchymal_fibroblast|PND07-28-samps / Age Group, Lineage, Cell class and subclass

MCF2 TXNL4B SCN1A

2.71e-0413741347859aa25f32367461c1ec75ed9060bee430c6b7
ToppCellPBMC-Mild-Myeloid-Neutrophil-immature_Neutrophil-Neu_2|Mild / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

GLB1L3 ABCA13 PLPP6

3.07e-041434134622c221b5d2d4cd4f37e4f81662e073924e1507
ToppCellPBMC-Mild-Myeloid-Neutrophil-immature_Neutrophil-Neu_2|Mild / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

GLB1L3 ABCA13 PLPP6

3.07e-041434139836a040a2ebcf6f05431e658a7b8fd566621452
ToppCellfacs-Lung-Endomucin-24m-Endothelial-Capillary_Type_1_Cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SLC6A3 ABCA13 SCN1A

3.19e-0414541396712c68ab759d7ade0d912581a1a7c25dc6def8
ToppCellCOVID-19-kidney-Technical/muscle_(PCT)|kidney / Disease (COVID-19 only), tissue and cell type

DNAH2 ABCA13 SCN1A

3.26e-04146413c55f1bdb6ac43b4118cb27ea7c879527e1afcbab
ToppCell10x_3'_v2v3-Non-neoplastic-Glial-Neuronal-OPC-OPC-E|10x_3'_v2v3 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

MCF2 SCN1A SCN2A

3.88e-0415541377fdae85d36efb776db977eb424b32487ef222e4
ToppCell3'_v3-lymph-node_spleen-Lymphocytic_T_CD4/8-lo-Trm_Tgd|lymph-node_spleen / Manually curated celltypes from each tissue

SLFN12L EFHC1 PLEKHH2

3.88e-04155413b0e456c4915076e1d38282e116a6eb3230ae80dc
ToppCellPBMC_fresh-frozen-Mild-Moderate_progression_d12-25-Lymphocytic-Lymphocytic_T-mature_alpha-beta_T_cell-T_CD4_c08-GZMK-FOS_h|Mild-Moderate_progression_d12-25 / Compartment, severity and other cell annotations on 10x 3' data (130k)

DBN1 RHBG TXNL4B

3.96e-0415641314e2f693a75f1075f40cc7b16ee430262a5de016
ToppCell3'-Airway_Nasal-Immune_Lymphocytic-Lymphocytic_T/NK-natural_killer_cell-NK_cells|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

SLFN12L DBN1 PKD1L3

4.50e-04163413e6213900f56257fe38ac7852351bea0340294be0
ToppCell3'-Airway_Nasal-Immune_Lymphocytic-Lymphocytic_T/NK-natural_killer_cell|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

SLFN12L DBN1 PKD1L3

4.50e-04163413ed7319185c1ec384444309bb8be95691a0c2091c
ToppCell3'-Airway_Nasal-Immune_Lymphocytic-Lymphocytic_T/NK-natural_killer_cell-NK_cells-NK_cells_L.1.3.0.0|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

SLFN12L DBN1 PKD1L3

4.50e-04163413ef35d7ff09aa364734fea7fdaab6260c0a3fbf09
ToppCellfacs-Lung-Endomucin-3m-Myeloid-Myeloid_Dendritic_Type_2|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

RHBG ABCA13 NLRP6

4.74e-04166413a2ce44702a0cd5fa5872cac3302d3c451205feef
ToppCellfacs-Lung-Endomucin-3m-Myeloid-myeloid_dendritic_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

RHBG ABCA13 NLRP6

4.74e-041664130f641302a6b71c4badaaf20f51162bfc2386b167
ToppCellChildren_(3_yrs)-Immune-enucleated_erythrocyte-D139|Children_(3_yrs) / Lineage, Cell type, age group and donor

DBN1 ABCA13 PLPP6

4.91e-041684138f0c4dfad9f6fed9dcc31795abfe77758ceb46a1
ToppCell3'-Broncho-tracheal-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.0.2|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 ABCA13

5.00e-0416941314aadc2d1bf66eb47dac33b4d61ddb3c942caa4f
ToppCellrenal_medulla_nuclei-CKD+DKD_normotensive-Immune-Myeloid-Granulocytic|CKD+DKD_normotensive / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 MELTF PLPP6

5.17e-04171413b6502a81df4f25660f3ae4b7443a1d999df2d32b
ToppCellrenal_medulla_nuclei-CKD+DKD_normotensive-Immune-Myeloid-Granulocytic-Mast_Cell|CKD+DKD_normotensive / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 MELTF PLPP6

5.17e-04171413ac37c80c832504986c7a201d84f4b6aff5e5f323
ToppCellCiliated_cells-B-IPF_04|World / lung cells shred on cell class, cell subclass, sample id

EFHC1 MORN2 ABCA13

5.26e-04172413187ae91148d293537afc77e10da2b64302322224
ToppCellInt-URO-Lymphocyte-T_NK-dnT|Int-URO / Disease, Lineage and Cell Type

PIGN CTSF EFHC1

5.26e-04172413e70299573da1679d6d286c3a43699cbff76e207d
ToppCellrenal_medulla_nuclei-Adult_normal_reference-Mesenchymal-Myocytic_interstitial_cell-Vascular_Smooth_Muscle_Cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

ASTN1 C1QTNF1 CAMK2G

5.53e-04175413d52794426f2703a80e91ae0a8ff2d8e0ce4aa4a8
ToppCellrenal_cortex_nuclei-Adult_normal_reference-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_2|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 PLEKHH2 ABCA13

5.53e-04175413284fdc7a9d303636a637041846850d19d114861a
ToppCellrenal_medulla_nuclei-Adult_normal_reference-Mesenchymal-Myocytic_interstitial_cell-Vascular_Smooth_Muscle_Cell-|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

ASTN1 C1QTNF1 CAMK2G

5.53e-04175413454f03e6109d65f5db08dbb41ecc19ffb6bbc4e0
ToppCellrenal_medulla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

PLEKHH2 ABCA13 ARHGAP10

5.62e-04176413327a3e81b724252e36d786de92a3ffd721ea6d7b
ToppCellrenal_medulla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_1|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

OCA2 ABCA13 ARHGAP10

5.72e-04177413da8802a6351d3e510822f82e2fde8a4314a2216e
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated-multi-ciliated_epithelial_cell-Deuterosomal|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

MELTF MORN2 ABCA13

5.91e-04179413d15182c668d7c37be8214cad9f1fe35d1409c9a1
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated-multi-ciliated_epithelial_cell-Deuterosomal-Deuterosomal_L.0.3.4.0|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

MELTF MORN2 ABCA13

5.91e-04179413e22a275a7c0ed19113c833a75d6c49fcc19aa13a
ToppCellASK454-Epithelial-Ciliated|ASK454 / Donor, Lineage and Cell class of Lung cells from Dropseq

EFHC1 MORN2 ABCA13

5.91e-04179413f21919ef9d3d984e2925ef3d24f89e20fe265dcd
ToppCell3'-Parenchyma_lung-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.3.0|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 AFDN EFHC1

6.00e-0418041392fb01b91261b3103454924cde56add337b41844
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated-multi-ciliated_epithelial_cell-Multiciliated_(nasal)-Multiciliated_(nasal)_L.0.3.1.0|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

EFHC1 MORN2 SLC22A2

6.00e-04180413adf5db5bfa9a38b1227ab0beccd8d6f3eea67ac0
ToppCell5'-Airway_Nasal-Epithelial-Airway_ciliated-multi-ciliated_epithelial_cell-Multiciliated_(nasal)-Multiciliated_(nasal)_L.0.3.1.1|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

EFHC1 MORN2 ABCA13

6.00e-041804131f1af4474f3f0ac3c0d6b1a6c875c354d36d8eec
ToppCellrenal_cortex_nuclei-Adult_normal_reference-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 PLEKHH2 ABCA13

6.10e-041814136a6bd8e020cb0929b6ecdcb55d467ad24fecfaf0
ToppCellCOVID-19-Heart-Pericyte|COVID-19 / Disease (COVID-19 only), tissue and cell type

ASTN1 C1QTNF1 ARHGAP10

6.10e-0418141333cac65ed1ea5e7bd72250495df4f850b143d5aa
ToppCellControl-Epithelial_cells-Airway_ciliated|Control / group, cell type (main and fine annotations)

DNAH2 EFCAB6 ABCA13

6.20e-04182413fb725d10d9ed25dfc6d5bb69cfef78513f7d3e8f
ToppCellrenal_medulla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_2|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 PLEKHH2 ABCA13

6.20e-041824135e1b316599436740f1b30875f0ebd33c3edfb2b6
ToppCell5'-Adult-LargeIntestine-Mesenchymal-fibroblastic-Stromal_3_(C7+)|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

CTSF PLEKHH2 ARHGAP10

6.20e-041824133dfa9187e9d2bab1d199079d29209c4648220ada
ToppCellRA-13._Vascular_Smooth_Muscle|World / Chamber and Cluster_Paper

OCA2 ARHGAP10 CAMK2G

6.30e-04183413cae2ee08f985a6f005b4b8e959e465350315156a
ToppCellfacs-Brain_Non-Myeloid-Cerebellum_-18m-Neuronal|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN1A SCN2A SCN8A

6.40e-041844137d9bcdaff8cbea4c50ab7db0f8e01f6bbd0ef593
ToppCellPBMC-Mild-cDC_9|Mild / Compartment, Disease Groups and Clusters

PIGN C1QTNF1 SCN8A

6.40e-041844132e0c9a2c40c892a2d435eafb31f1f838de9baf15
ToppCellCOVID-19-Epithelial_cells-Airway_ciliated|COVID-19 / group, cell type (main and fine annotations)

DNAH2 EFCAB6 ABCA13

6.50e-0418541318a40f0a338aa398d81384b5159fb80ce8a2020c
ToppCellrenal_cortex_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Renal_corpuscle_epithelial_cell-parietal_epithelial_cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 OCA2 PLEKHH2

6.50e-0418541334fcfd635c828dad9643bbf1c908d79282d6f5d9
ToppCelldroplet-Kidney-KIDNEY-1m-Epithelial-Epcam____podocyte|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

C1QTNF1 OCA2 PLEKHH2

6.50e-04185413872720275789d249c9859de825a923803d458875
ToppCellrenal_cortex_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Renal_corpuscle_epithelial_cell-parietal_epithelial_cell-Parietal_Epithelial_Cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 OCA2 PLEKHH2

6.50e-041854138816f2909ed11833ff3d0ed96b9cb6d6fe9e1578
ToppCellHealthy-MAIT|Healthy / disease group, cell group and cell class

SLFN12L C1QTNF1 DBN1

6.60e-04186413028061f06d86e75cb06db56b199594b80f23fa58
ToppCellCiliated_cells-B-IPF_01|World / lung cells shred on cell class, cell subclass, sample id

DNAH2 EFCAB6 ABCA13

6.60e-04186413f72267d533fd0c5280d9741ceee3dd116300a7e4
ToppCell3'-Broncho-tracheal-Epithelial-Airway_ciliated-multi-ciliated_epithelial_cell-Multiciliated_(nasal)|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

EFHC1 MORN2 RHBG

6.60e-04186413903af26a63ec4b1755ab5cb81dfeb8dbd14bc5db
ToppCellfacs-Kidney-nan-24m-Epithelial-kidney_collecting_duct_principal_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

EFCAB6 RHBG ABCA13

6.60e-041864137380af16e537cc49a2bb24ac50663d13c38459a7
ToppCellrenal_medulla_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_2|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 PLEKHH2 ABCA13

6.60e-041864135c4ffe4e4d5536ae9f8794277fe032c693e7dd56
ToppCellfacs-Brain_Non-Myeloid-Cortex-24m|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN1A SCN2A SCN8A

6.60e-041864137278a1a1bf9bb27aeb03852134defb31b62f30d6
ToppCellfacs-Kidney-nan-24m-Epithelial-kidney_collecting_duct_principal_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

EFCAB6 RHBG ABCA13

6.60e-04186413d56ccbe26bfddba0e2c54e7c7a5ca7f46fd3d891
ToppCell5'-Adult-LargeIntestine-Mesenchymal-Pericytes-Pericyte|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

C1QTNF1 PLEKHH2 ARHGAP10

6.60e-041864130c477016c1b539b3086a8066c3c6443f08c222a3
ToppCellfacs-Lung-18m-Mesenchymal-fibroblast-adventitial_fibroblast-adventitial_fibroblast_l25-31|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

C1QTNF1 DBN1 HELQ

6.71e-04187413fa8f221b4c2df61eadaa9c77e4cf45848b00330b
ToppCell3'-Adult-LargeIntestine-Mesenchymal-stromal_related-T_reticular|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

CTSF PLEKHH2 ARHGAP10

6.71e-04187413f0c4d93f75615e570e4465fd622e3124189618a1
ToppCell3'-Adult-LargeIntestine-Mesenchymal-stromal_related|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

CTSF PLEKHH2 ARHGAP10

6.71e-041874133ff57da09ed8394913fb683669d7bff84a936623
ToppCell5'-Parenchyma_lung-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.3.1|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

DNAH2 EFHC1 MORN2

6.71e-04187413e61992de4f98eeea08b43213850769d923f8db48
ToppCellfacs-Brain_Non-Myeloid-Cerebellum-3m-Neuronal|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN1A SCN2A SCN8A

6.71e-041874137b2cd0c618ed081223343f3bec2244c8723c9a31
ToppCellAdult-Epithelial-ciliated_cell-D231|Adult / Lineage, Cell type, age group and donor

DNAH2 EFCAB6 ABCA13

6.81e-0418841334b11f72ca73153d02edcd09b38983ad1a504659
ToppCellrenal_cortex_nuclei-Hypertensive_with+without-CKD-Epithelial-Renal_corpuscle_epithelial_cell-parietal_epithelial_cell-Parietal_Epithelial_Cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 OCA2 PLEKHH2

6.81e-04188413874404a4fd9aa42873f6c53dc42da22d3b0fdb9e
ToppCellrenal_cortex_nuclei-Hypertensive_with+without-CKD-Epithelial-Renal_corpuscle_epithelial_cell-parietal_epithelial_cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

SLC6A3 OCA2 PLEKHH2

6.81e-04188413b21e93a70583c30d05c0833cd3d4d4bca44a039e
ToppCellEpithelial-ciliated_cell|World / Lineage, Cell type, age group and donor

DNAH2 EFCAB6 ABCA13

6.81e-0418841361a459f3fe57e5728efc72637ff2edc2d343492b
ToppCellrenal_medulla_nuclei-Hypertensive_with+without-CKD-Mesenchymal-Myocytic_interstitial_cell-Vascular_Smooth_Muscle_Cell-|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

C1QTNF1 ARHGAP10 CAMK2G

6.92e-041894132cfb4d12f75678d1619f4743838a0e954bd57761
ToppCell343B-Epithelial_cells-Epithelial-F_(Ciliated)|Epithelial_cells / Donor, Lineage, Cell class and subclass (all cells)

DNAH2 EFHC1 MORN2

6.92e-0418941357ab947b81dbd9d3e896be89e28c4a62cf720837
ToppCell343B-Epithelial_cells-Epithelial-F_(Ciliated)-|Epithelial_cells / Donor, Lineage, Cell class and subclass (all cells)

DNAH2 EFHC1 MORN2

6.92e-04189413ebc16b8eab84167d74446783d7e802acedc6b9c6
ToppCellChildren_(3_yrs)-Epithelial-ciliated_cell-D032|Children_(3_yrs) / Lineage, Cell type, age group and donor

DNAH2 EFCAB6 ABCA13

6.92e-0418941368a3cf7763d6f9b95d6d6524eff7a16042703f1d
ToppCellfacs-Thymus-Epithelium-3m-Mesenchymal|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

C1QTNF1 CTSF DBN1

6.92e-041894131db5dd1ef2a65251af2d5696622d1dd9c4ae2b55
ToppCellfacs-Thymus-Epithelium-3m-Mesenchymal-fibroblast|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

C1QTNF1 CTSF DBN1

6.92e-04189413bfb1c183a8a2752a2368b74150e66181c6a9da48
ToppCellfacs-Thymus-Epithelium-3m-Mesenchymal-fibroblast|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

C1QTNF1 CTSF DBN1

6.92e-0418941314833feea8f80744a06ece73f813eaeff8c4dd61
DrugBenztropine

SLC6A3 SLC22A2 ABCB4

2.17e-084413ctd:D001590
DrugProcyclidine

SLC22A2 ABCB4

3.16e-062412ctd:D011352
DrugBrompheniramine

SLC22A2 ABCB4

1.89e-054412ctd:D001977
DrugAPETx2 protein, Anthopleura elegantissima

SCN2A SCN8A

1.89e-054412ctd:C501880
DrugRescinnamin [24815-24-5]; Down 200; 6.4uM; MCF7; HT_HG-U133A

PIGN POR CAMK2G GPR107 MAP3K4

2.37e-051924152785_DN
DrugNomifensine

SLC6A3 ABCB4

3.15e-055412ctd:D009627
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN1A SCN2A SCN8A

2.97e-0710413DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN1A SCN2A SCN8A

2.97e-0710413DOID:0080422 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN1A SCN2A SCN8A

5.43e-0712413DOID:0060170 (implicated_via_orthology)
DiseaseBenign familial infantile epilepsy

SCN2A SCN8A

5.65e-063412cv:C5575231
DiseaseEpilepsy

ASTN1 SCN1A SCN2A SCN8A

1.61e-05109414C0014544
Diseaseglycoprotein measurement

PKD1L3 ARHGAP10 TXNL4B SLC22A2

2.27e-05119414EFO_0004555
DiseaseFamilial benign neonatal epilepsy

SCN2A SCN8A

2.82e-056412C0220669
DiseaseSeizure, Febrile, Simple

SCN1A SCN2A

3.94e-057412C0149886
DiseaseSeizure, Febrile, Complex

SCN1A SCN2A

3.94e-057412C0751057
DiseaseX-linked infantile spasms

CAMK2G SCN1A

5.25e-058412C4552072
DiseaseFebrile Convulsions

SCN1A SCN2A

6.74e-059412C0009952
DiseaseGeneralized Epilepsy with Febrile Seizures Plus

SCN1A SCN2A

6.74e-059412C3502809
DiseaseInfantile Severe Myoclonic Epilepsy

SCN1A SCN2A

1.46e-0413412C0751122
Diseaseadipic acid mesurement

MELTF KDM4C

1.46e-0413412EFO_0010455
DiseaseMMR-related febrile seizures

SCN1A SCN2A

1.96e-0415412EFO_0006519
DiseaseEpilepsy, Cryptogenic

SCN1A SCN2A SCN8A

2.04e-0482413C0086237
DiseaseAwakening Epilepsy

SCN1A SCN2A SCN8A

2.04e-0482413C0751111
DiseaseAura

SCN1A SCN2A SCN8A

2.04e-0482413C0236018
DiseaseEarly infantile epileptic encephalopathy with suppression bursts

SCN1A SCN2A

2.23e-0416412C0393706
DiseaseFebrile seizure (within the age range of 3 months to 6 years)

SCN1A SCN2A

2.84e-0418412HP_0002373
DiseaseNeurodevelopmental Disorders

SCN1A SCN2A SCN8A

2.96e-0493413C1535926
Diseasehaptoglobin measurement

PKD1L3 TXNL4B

3.89e-0421412EFO_0004640
Diseaseanxiety disorder (implicated_via_orthology)

SCN1A SCN2A

4.28e-0422412DOID:2030 (implicated_via_orthology)
DiseaseBipolar Disorder

SLC6A3 DBN1 ABCA13 SCN2A SCN8A

5.01e-04477415C0005586
Diseaselipoprotein A measurement

TXNL4B SLC22A2 MAP3K4

5.11e-04112413EFO_0006925
Diseaseapolipoprotein L1 measurement

PKD1L3 TXNL4B

5.54e-0425412EFO_0021854
Diseaseautism spectrum disorder (implicated_via_orthology)

SLC6A3 SCN1A SCN2A

1.24e-03152413DOID:0060041 (implicated_via_orthology)
Diseaseage at menarche

DNAH2 HELQ KDM4C SCN2A NLRP6

1.34e-03594415EFO_0004703

Protein segments in the cluster

PeptideGeneStartEntry
GVMRFYFQDKAAGNF

AFDN

41

P55196
FYFDTHQGLKFMQDL

ABCA13

2351

Q86UQ4
TLFGEMFFGYNNHSK

ASTN1

731

O14525
MFFGYNNHSKEVAAG

ASTN1

736

O14525
IAEQHGYGFSFMEFF

OCA2

796

Q04671
LNTFGFFKDGYMVVN

GPR107

56

Q5VW38
TEKHGNYFAYVQMFN

NOL11

171

Q9H8H0
LSFFQGMFTFYHQGH

ARHGAP10

201

A1A4S6
FGLGNKTYEHFNAMG

POR

171

P16435
KYEISFNVYMFHGGT

GLB1L3

331

Q8NCI6
NFGFMNGATYFGKHS

GLB1L3

346

Q8NCI6
KFGHVFYFVQASCMG

ARRDC5

126

A6NEK1
NYFASHFFMGGEKFD

MGRN1

31

O60291
KYFGSNIAHMYQVEF

KDM4C

956

Q9H3R0
GHFENQKVMYGFCSV

DBN1

56

Q16643
HFMNGIYQVVGFDAS

PLEKHH2

1126

Q8IVE3
KVGMFFQAVATFFAG

ABCB4

191

P21439
FVNLYDHFNMFTGKF

C1QTNF1

171

Q9BXJ1
EDYFNFMGHFTKPQQ

EFCAB6

926

Q5THR3
SVAINAFGMQFYRHG

CTSF

401

Q9UBX1
FGNMAEIYEFHNDIF

MCF2

546

P10911
MCSHGEGKINYYNFV

EFHC1

621

Q5JVL4
DDIYHFMNGTFFGVQ

HELQ

771

Q8TDG4
DFEFKGHFTSNVGYM

DNAH2

1166

Q9P225
HGGEFHFFQKQMFFL

SLC22A2

11

O15244
GNLVEGMDFHKFYFE

CAMK2G

466

Q13555
AGKLYQGQVDFAFFM

NLRP6

221

P59044
MIQGYNFGFEYHKEV

MAP3K4

1036

Q9Y6R4
NGFKMFDSSNYHGQD

MELTF

656

P08582
QMKVENFEAAVHFYG

SGTA

101

O43765
FGIVGLNMNGYFHEA

POMGNT1

501

Q8WZA1
KNENGFSYIMRGAFF

PKD1L3

1431

Q7Z443
FSIMGVNLFAGKFYH

SCN1A

1361

P35498
SGAVYEGQFKDNMFH

MORN2

11

Q502X0
FLDFMQNGNYFHIFV

SLFN12L

111

Q6IEE8
YPSFQDVHAMVFVGF

RHBG

61

Q9H310
GFVVFSFLGYMAQKH

SLC6A3

361

Q01959
FSIMGVNLFAGKFYH

SCN2A

1351

Q99250
FSIMGVNLFAGKYHY

SCN8A

1341

Q9UQD0
DGVKEIVSMFNHFYG

PIGN

236

O95427
IVSMFNHFYGNDGKT

PIGN

241

O95427
HMDFGQLYQFLNTKG

RWDD2B

291

P57060
HNVTDVAFGFFLGYM

PLPP6

256

Q8IY26
TVFFFNGQHMKVDYG

TXNL4B

81

Q9NX01