Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionvoltage-gated sodium channel activity

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

1.85e-0926936GO:0005248
GeneOntologyMolecularFunctionsodium channel activity

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

1.49e-0752936GO:0005272
GeneOntologyMolecularFunctionsodium ion binding

SCN1A SCN2A SCN3A SCN9A

4.26e-0714934GO:0031402
GeneOntologyMolecularFunctionsodium ion transmembrane transporter activity

SLC4A7 SLC4A8 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

1.35e-06171938GO:0015081
GeneOntologyMolecularFunctionalkali metal ion binding

SCN1A SCN2A SCN3A SCN9A

6.09e-0626934GO:0031420
GeneOntologyMolecularFunction[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity

HS3ST3B1 HS3ST3A1

2.15e-052932GO:0033872
GeneOntologyMolecularFunctionmonoatomic cation channel activity

CACNA1S SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

2.00e-04343938GO:0005261
GeneOntologyMolecularFunctionmonoatomic ion channel activity

CACNA1S CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

2.89e-04459939GO:0005216
GeneOntologyMolecularFunctionmetal ion transmembrane transporter activity

CACNA1S SLC4A7 SLC4A8 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

3.18e-04465939GO:0046873
GeneOntologyMolecularFunctioncreatine kinase activity

CKB CKM

3.18e-046932GO:0004111
GeneOntologyMolecularFunctionsodium:bicarbonate symporter activity

SLC4A7 SLC4A8

3.18e-046932GO:0008510
GeneOntologyMolecularFunction[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity

HS3ST3B1 HS3ST3A1

4.44e-047932GO:0008467
GeneOntologyMolecularFunctionphosphotransferase activity, nitrogenous group as acceptor

CKB CKM

5.90e-048932GO:0016775
GeneOntologyMolecularFunctionchannel activity

CACNA1S CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

7.61e-04525939GO:0015267
GeneOntologyMolecularFunctionpassive transmembrane transporter activity

CACNA1S CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

7.72e-04526939GO:0022803
GeneOntologyMolecularFunctionnucleoside triphosphate diphosphatase activity

ENPP3 DHX9

9.42e-0410932GO:0047429
GeneOntologyMolecularFunctionmonoatomic cation transmembrane transporter activity

CACNA1S SLC4A7 SLC4A8 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

1.04e-036649310GO:0008324
GeneOntologyMolecularFunctionmonoatomic ion transmembrane transporter activity

CACNA1S SLC4A7 SLC4A8 CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

1.14e-037939311GO:0015075
GeneOntologyMolecularFunctionmonoatomic cation:bicarbonate symporter activity

SLC4A7 SLC4A8

1.62e-0313932GO:0140410
GeneOntologyMolecularFunctionvoltage-gated monoatomic ion channel activity

CACNA1S CLCN1 SCN1A SCN2A CACNA1H

1.62e-03182935GO:0005244
GeneOntologyMolecularFunctionvoltage-gated channel activity

CACNA1S CLCN1 SCN1A SCN2A CACNA1H

1.70e-03184935GO:0022832
GeneOntologyMolecularFunctionhigh voltage-gated calcium channel activity

CACNA1S CACNA1H

1.88e-0314932GO:0008331
GeneOntologyMolecularFunctionheparan sulfate sulfotransferase activity

HS3ST3B1 HS3ST3A1

2.17e-0315932GO:0034483
GeneOntologyMolecularFunctioninorganic cation transmembrane transporter activity

CACNA1S SLC4A7 SLC4A8 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

2.59e-03627939GO:0022890
GeneOntologyMolecularFunctioninorganic molecular entity transmembrane transporter activity

CACNA1S SLC4A7 SLC4A8 CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

2.76e-037589310GO:0015318
GeneOntologyMolecularFunctionvoltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

SCN1A SCN2A

2.79e-0317932GO:0099508
GeneOntologyBiologicalProcessmuscle contraction

CACNA1S ADRA2B CLCN1 SYNM SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H LTB4R AGRN UTY CHRNE

2.34e-094009114GO:0006936
GeneOntologyBiologicalProcessstriated muscle contraction

CACNA1S SYNM SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN UTY CHRNE

3.07e-092179111GO:0006941
GeneOntologyBiologicalProcessmembrane depolarization during action potential

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

1.09e-0836916GO:0086010
GeneOntologyBiologicalProcesstransmission of nerve impulse

SPTBN4 CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

3.43e-08112918GO:0019226
GeneOntologyBiologicalProcessactin-mediated cell contraction

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H PARD3 UTY

9.16e-08127918GO:0070252
GeneOntologyBiologicalProcessmuscle system process

CACNA1S ADRA2B CLCN1 SYNM SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H LTB4R AGRN UTY CHRNE

1.18e-075479114GO:0003012
GeneOntologyBiologicalProcesscardiac muscle cell contraction

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H UTY

1.79e-0793917GO:0086003
GeneOntologyBiologicalProcessneuronal action potential

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

3.46e-0763916GO:0019228
GeneOntologyBiologicalProcesssodium ion transmembrane transport

SLC4A7 SLC4A8 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN

3.48e-07208919GO:0035725
GeneOntologyBiologicalProcesssodium ion transport

SPTBN4 SLC4A7 SLC4A8 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN

3.75e-072759110GO:0006814
GeneOntologyBiologicalProcessactin filament-based movement

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H PARD3 UTY

3.85e-07153918GO:0030048
GeneOntologyBiologicalProcesscardiac muscle contraction

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN UTY

7.50e-07167918GO:0060048
GeneOntologyBiologicalProcessmembrane depolarization

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

1.08e-06121917GO:0051899
GeneOntologyBiologicalProcessheart contraction

SPTBN4 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN UTY

6.76e-06298919GO:0060047
GeneOntologyBiologicalProcesscardiac muscle cell action potential involved in contraction

SCN1A SCN2A SCN3A SCN4A SCN9A

7.94e-0662915GO:0086002
GeneOntologyBiologicalProcessheart process

SPTBN4 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN UTY

9.04e-06309919GO:0003015
GeneOntologyBiologicalProcesscirculatory system process

SPTBN4 ADRA2B SLC4A8 AVPR1B SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN UTY EMILIN1

1.93e-057339113GO:0003013
GeneOntologyBiologicalProcessblood circulation

SPTBN4 ADRA2B AVPR1B SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN UTY EMILIN1

2.73e-056489112GO:0008015
GeneOntologyBiologicalProcessaction potential

CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

3.05e-05201917GO:0001508
GeneOntologyBiologicalProcessregulation of membrane potential

PANK2 SLC4A8 CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H AGRN CHRNE

3.50e-055599111GO:0042391
GeneOntologyBiologicalProcesscardiac muscle cell action potential

SCN1A SCN2A SCN3A SCN4A SCN9A

4.16e-0587915GO:0086001
GeneOntologyBiologicalProcessnucleoside bisphosphate biosynthetic process

PANK2 PPT2 ACACA ACLY

1.53e-0461914GO:0033866
GeneOntologyBiologicalProcessribonucleoside bisphosphate biosynthetic process

PANK2 PPT2 ACACA ACLY

1.53e-0461914GO:0034030
GeneOntologyBiologicalProcesspurine nucleoside bisphosphate biosynthetic process

PANK2 PPT2 ACACA ACLY

1.53e-0461914GO:0034033
GeneOntologyBiologicalProcessphosphocreatine metabolic process

CKB CKM

1.91e-045912GO:0006603
GeneOntologyBiologicalProcessphosphagen biosynthetic process

CKB CKM

1.91e-045912GO:0042396
GeneOntologyBiologicalProcessphosphocreatine biosynthetic process

CKB CKM

1.91e-045912GO:0046314
GeneOntologyBiologicalProcessphosphagen metabolic process

CKB CKM

1.91e-045912GO:0006599
GeneOntologyBiologicalProcesssulfur compound metabolic process

PPT2 ACACA ACLY LPO HS3ST3B1 HS3ST3A1 PHGDH OPLAH

2.11e-04365918GO:0006790
GeneOntologyBiologicalProcessmetal ion transport

SPTBN4 CACNA1S SLC4A7 SLC4A8 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H HSD3B1 AGRN GP5

4.33e-0410009113GO:0030001
GeneOntologyBiologicalProcessmonoatomic cation transport

SPTBN4 CACNA1S SLC4A7 SLC4A8 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H HSD3B1 AGRN CHRNE GP5

5.26e-0411579114GO:0006812
GeneOntologyBiologicalProcessclustering of voltage-gated sodium channels

SPTBN4 AGRN

5.30e-048912GO:0045162
GeneOntologyBiologicalProcessthreonine metabolic process

TDH PHGDH

5.30e-048912GO:0006566
GeneOntologyCellularComponentvoltage-gated sodium channel complex

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

6.41e-1117906GO:0001518
GeneOntologyCellularComponentsodium channel complex

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

2.36e-0929906GO:0034706
GeneOntologyCellularComponentsarcolemma

CACNA1S CLCN1 SYNM SGCB SCN1A SCN2A CACNA1H AGRN

1.65e-06190908GO:0042383
GeneOntologyCellularComponentmonoatomic ion channel complex

CACNA1S CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

3.65e-05378909GO:0034702
GeneOntologyCellularComponentcation channel complex

CACNA1S SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

7.02e-05235907GO:0034703
GeneOntologyCellularComponentnode of Ranvier

SPTBN4 SCN1A SCN2A

8.34e-0520903GO:0033268
GeneOntologyCellularComponentaxon initial segment

SPTBN4 SCN1A SCN2A

2.60e-0429903GO:0043194
GeneOntologyCellularComponenttransmembrane transporter complex

CACNA1S CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

4.20e-04523909GO:1902495
GeneOntologyCellularComponentplasma membrane protein complex

CACNA1S SGCB SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H EMILIN1 CHRNE GP5

5.45e-047859011GO:0098797
GeneOntologyCellularComponentmain axon

SPTBN4 SCN1A SCN2A PARD3

5.93e-0489904GO:0044304
GeneOntologyCellularComponenttransporter complex

CACNA1S CLCN1 SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

6.03e-04550909GO:1990351
GeneOntologyCellularComponentvacuolar lumen

DPP7 GALC PPT2 ACLY AGRN

1.04e-03178905GO:0005775
HumanPhenoCyanosis

SCN1A SCN2A SCN4A SCN9A ELP1 AGRN CHRNE

1.11e-05117357HP:0000961
HumanPhenoPhotosensitive myoclonic seizure

SCN1A SCN2A SCN9A

1.63e-058353HP:0001327
HumanPhenoCyanotic episode

SCN1A SCN2A SCN9A

1.63e-058353HP:0200048
HumanPhenoFeeding difficulties in infancy

POMT2 SPTBN4 UBA1 GALC PANK2 CLCN1 SCN1A SCN3A SCN4A SCN9A EMG1 ELP1 AGRN CHRNE

1.65e-055943514HP:0008872
HumanPhenoMuscle stiffness

CACNA1S GALC PANK2 CLCN1 ACADVL SCN4A

1.73e-0583356HP:0003552
HumanPhenoAbnormal facial expression

POMT2 SPTBN4 UBA1 PANK2 SGCB SCN1A SCN2A SCN9A

2.64e-05185358HP:0005346
HumanPhenoAbnormality of masticatory muscle

CACNA1S SCN4A AGRN CHRNE

2.93e-0527354HP:0410011
HumanPhenoAbnormal nervous system electrophysiology

POMT2 SPTBN4 CACNA1S UBA1 GALC ADRA2B SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H MED23 AGRN EMILIN1 PHGDH CHRNE

3.66e-059243517HP:0001311
HumanPhenoMyotonia with warm-up phenomenon

CLCN1 SCN4A

4.59e-052352HP:0003740
HumanPhenoRecurrent infections due to aspiration

SPTBN4 ELP1

4.59e-052352HP:0004891
HumanPhenoLimited neck range of motion

SCN1A SCN2A SCN9A

4.72e-0511353HP:0000466
HumanPhenoAbnormality of jaw muscles

CACNA1S SCN4A AGRN CHRNE

5.15e-0531354HP:0045037
HumanPhenoAbnormality of the shoulder girdle musculature

POMT2 GALC SGCB SCN4A AGRN EMILIN1 CHRNE

5.38e-05149357HP:0001435
HumanPhenoFeeding difficulties

POMT2 SPTBN4 CACNA1S UBA1 GALC PANK2 CLCN1 ACADVL SCN1A SCN3A SCN4A SCN9A EMG1 ELP1 CDC6 MED23 AGRN PHGDH CHRNE

5.40e-0511683519HP:0011968
HumanPhenoLimb-girdle muscle weakness

POMT2 GALC SGCB SCN4A AGRN CHRNE

5.96e-05103356HP:0003325
HumanPhenoEpilepsia partialis continua

SCN1A SCN2A SCN9A

6.27e-0512353HP:0012847
HumanPhenoMyopathy

POMT2 CACNA1S UBA1 PANK2 CLCN1 ACACA SGCB SCN4A AGRN CHRNE

6.42e-053413510HP:0003198
HumanPhenoObsessive-compulsive trait

PANK2 SCN1A SCN2A SCN9A

6.64e-0533354HP:0008770
HumanPhenoCalcaneovalgus deformity

SCN1A SCN2A SCN9A PHGDH

7.48e-0534354HP:0001848
HumanPhenoFatigable weakness of neck muscles

SCN4A AGRN CHRNE

8.11e-0513353HP:0030199
HumanPhenoDecreased miniature endplate potentials

SCN4A AGRN CHRNE

8.11e-0513353HP:0003402
HumanPhenoGeneralized cerebral atrophy/hypoplasia

SCN1A SCN2A SCN9A

8.11e-0513353HP:0007058
HumanPhenoDeformed tarsal bones

SCN1A SCN2A SCN9A PHGDH

8.41e-0535354HP:0008119
HumanPhenoDisturbance of facial expression

PANK2 SCN1A SCN2A SCN9A

9.41e-0536354HP:0005324
HumanPhenoEMG abnormality

POMT2 CACNA1S UBA1 CLCN1 SCN4A ELP1 ZFR AGRN CHRNE

1.14e-04293359HP:0003457
HumanPhenoDecreased size of nerve terminals

SCN4A AGRN CHRNE

1.28e-0415353HP:0003443
HumanPhenoFacial tics

SCN1A SCN2A SCN9A

1.28e-0415353HP:0011468
HumanPhenoPhotosensitive tonic-clonic seizure

SCN1A SCN2A SCN9A

1.28e-0415353HP:0007207
HumanPhenoHip flexor weakness

SCN4A AGRN CHRNE

1.28e-0415353HP:0012515
HumanPhenoFacial palsy

POMT2 SPTBN4 UBA1 SGCB SCN1A SCN4A AGRN CHRNE

1.33e-04232358HP:0010628
HumanPhenoAbnormal seventh cranial physiology

POMT2 SPTBN4 UBA1 SGCB SCN1A SCN4A AGRN CHRNE

1.37e-04233358HP:0010827
HumanPhenoAbnormal muscle fiber morphology

POMT2 SPTBN4 CACNA1S UBA1 SGCB SCN4A AGRN EMILIN1 CHRNE

1.44e-04302359HP:0004303
HumanPhenoDysgenesis of the hippocampus

SCN1A SCN2A SCN9A

1.57e-0416353HP:0025101
HumanPhenoComplex febrile seizure

SCN1A SCN2A SCN9A

1.57e-0416353HP:0011172
HumanPhenoEEG abnormality

POMT2 SPTBN4 GALC ADRA2B SCN1A SCN2A SCN3A SCN9A CACNA1H MED23 AGRN PHGDH

1.73e-045483512HP:0002353
HumanPhenoFocal motor status epilepticus

SCN1A SCN2A SCN9A

1.89e-0417353HP:0032663
HumanPhenoAnkle weakness

SCN4A AGRN CHRNE

1.89e-0417353HP:0031374
HumanPhenoAtypical absence status epilepticus

SCN1A SCN2A SCN9A

1.89e-0417353HP:0011151
HumanPhenoFocal emotional seizure with laughing

SCN1A SCN2A PHGDH

1.89e-0417353HP:0010821
HumanPhenoVisually-induced seizure

SCN1A SCN2A SCN9A

2.26e-0418353HP:0020216
HumanPhenoGeneralized non-convulsive status epilepticus without coma

SCN1A SCN2A SCN9A

2.26e-0418353HP:0032860
HumanPhenoFocal emotional seizure

SCN1A SCN2A PHGDH

2.26e-0418353HP:0025613
HumanPhenoTriceps weakness

SCN4A AGRN CHRNE

2.26e-0418353HP:0031108
HumanPhenoFatigable weakness of skeletal muscles

POMT2 SCN4A AGRN CHRNE

2.28e-0445354HP:0030197
HumanPhenoEEG with spike-wave complexes

SCN1A SCN2A SCN9A CACNA1H AGRN

2.96e-0488355HP:0010850
HumanPhenoWeakness of long finger extensor muscles

SCN4A AGRN CHRNE

3.13e-0420353HP:0009077
HumanPhenoNon-convulsive status epilepticus without coma

SCN1A SCN2A SCN9A

3.13e-0420353HP:0032671
HumanPhenoWeak cry

UBA1 SCN4A AGRN CHRNE

3.18e-0449354HP:0001612
HumanPhenoTalipes valgus

SCN1A SCN2A SCN9A

3.63e-0421353HP:0004684
HumanPhenoWeakness of facial musculature

POMT2 SPTBN4 UBA1 SGCB SCN1A SCN4A AGRN CHRNE

3.68e-04269358HP:0030319
HumanPhenoPelvic girdle muscle weakness

SGCB SCN4A AGRN CHRNE

3.71e-0451354HP:0003749
HumanPhenoInfection-related seizure

GALC SCN1A SCN2A SCN3A SCN9A CACNA1H

3.94e-04145356HP:0032892
HumanPhenoSeizure precipitated by febrile infection

GALC SCN1A SCN2A SCN3A SCN9A CACNA1H

3.94e-04145356HP:0032894
HumanPhenoFebrile seizure (within the age range of 3 months to 6 years)

GALC SCN1A SCN2A SCN3A SCN9A CACNA1H

3.94e-04145356HP:0002373
HumanPhenoAbnormal morphology of the pelvis musculature

SGCB SCN4A AGRN CHRNE

4.00e-0452354HP:0001469
HumanPhenoAbnormality of the hip-girdle musculature

SGCB SCN4A AGRN CHRNE

4.00e-0452354HP:0001445
HumanPhenoAnti-acetylcholine receptor antibody positivity

SCN4A AGRN CHRNE

4.19e-0422353HP:6001064
HumanPhenoReflex seizure

SCN1A SCN2A SCN9A

4.19e-0422353HP:0020207
HumanPhenoAnti-neuromuscular Junction acetylcholine receptor antibody positivity

SCN4A AGRN CHRNE

4.19e-0422353HP:0030208
HumanPhenoTibial torsion

SCN1A SCN2A SCN9A

4.79e-0423353HP:0100694
HumanPhenoPes valgus

SCN1A SCN2A SCN4A SCN9A

5.33e-0456354HP:0008081
HumanPhenoAbnormal ankle morphology

SPTBN4 UBA1 SCN1A SCN2A SCN9A

5.36e-04100355HP:0034673
HumanPhenoWeakness of the intrinsic hand muscles

SCN4A AGRN CHRNE

5.45e-0424353HP:0009005
HumanPhenoThoracic kyphoscoliosis

SCN4A AGRN CHRNE

5.45e-0424353HP:0005659
HumanPhenoAbnormality of facial musculature

POMT2 SPTBN4 CACNA1S UBA1 SGCB SCN1A SCN4A AGRN CHRNE

5.51e-04361359HP:0000301
HumanPhenoShoulder girdle muscle weakness

GALC SCN4A AGRN CHRNE

5.70e-0457354HP:0003547
HumanPhenoAbnormality of the calcaneus

SCN1A SCN2A SCN9A PHGDH

5.70e-0457354HP:0008364
HumanPhenoInfantile muscular hypotonia

POMT2 UBA1 GALC ACADVL SCN1A SCN2A SCN9A

5.92e-04219357HP:0008947
HumanPhenoFatigable weakness of respiratory muscles

CACNA1S SCN4A AGRN CHRNE

6.09e-0458354HP:0030196
HumanPhenoRespiratory insufficiency due to muscle weakness

CACNA1S UBA1 SCN4A AGRN CHRNE

6.15e-04103355HP:0002747
HumanPhenoFocal hemiclonic seizure

SCN1A SCN2A SCN9A

6.16e-0425353HP:0006813
HumanPhenoExercise-induced rhabdomyolysis

CACNA1S ACADVL

6.76e-046352HP:0009045
HumanPhenoHypogeusia

SCN9A ELP1

6.76e-046352HP:0000224
HumanPhenoEpisodic hypokalemia

CACNA1S SCN4A

6.76e-046352HP:0012726
HumanPhenoHandgrip myotonia

CLCN1 SCN4A

6.76e-046352HP:0012899
HumanPhenoMalignant hyperthermia

CACNA1S SCN4A ELP1

6.93e-0426353HP:0002047
HumanPhenoRespiratory distress

UBA1 GALC ACADVL SCN4A CDC6 AGRN CHRNE

7.15e-04226357HP:0002098
HumanPhenoAbnormal cry

UBA1 SCN4A AGRN CHRNE

7.38e-0461354HP:0025429
HumanPhenoLimited knee extension

SCN1A SCN2A SCN9A

7.76e-0427353HP:0003066
HumanPhenoStatus epilepticus without prominent motor symptoms

SCN1A SCN2A SCN9A

7.76e-0427353HP:0031475
HumanPhenoSimple febrile seizure

SCN1A SCN2A SCN3A

7.76e-0427353HP:0011171
HumanPhenoMask-like facies

POMT2 SPTBN4 UBA1 PANK2 SGCB

7.96e-04109355HP:0000298
HumanPhenoAthetosis

SPTBN4 PANK2 SCN1A SCN2A MED23 PHGDH

8.10e-04166356HP:0002305
HumanPhenoFocal aware seizure

SCN1A SCN2A SCN9A

8.66e-0428353HP:0002349
HumanPhenoEpisodic flaccid weakness

CACNA1S SCN4A

9.43e-047352HP:0003752
HumanPhenoAbnormality of taste sensation

SCN9A ELP1

9.43e-047352HP:0000223
HumanPhenoStatus epilepticus with prominent motor symptoms

SCN1A SCN2A SCN9A

9.61e-0429353HP:0032658
HumanPhenoReduced vital capacity

SCN4A AGRN CHRNE

9.61e-0429353HP:0002792
HumanPhenoWeakness of muscles of respiration

CACNA1S UBA1 SCN4A AGRN CHRNE

1.06e-03116355HP:0004347
HumanPhenoAbnormality of peripheral nervous system electrophysiology

POMT2 SPTBN4 CACNA1S UBA1 GALC SCN9A EMILIN1 PHGDH

1.06e-03315358HP:0030177
HumanPhenoProgressive gait ataxia

SCN1A SCN2A SCN9A

1.06e-0330353HP:0007240
HumanPhenoEMG: decremental response of compound muscle action potential to repetitive nerve stimulation

SCN4A AGRN CHRNE

1.06e-0330353HP:0003403
HumanPhenoProgressive ataxia

SCN1A SCN2A SCN9A

1.06e-0330353HP:0001329
HumanPhenoAbnormal peripheral nervous system physiology

POMT2 SPTBN4 CACNA1S UBA1 GALC SCN9A EMILIN1 PHGDH

1.15e-03319358HP:0032120
HumanPhenoMuscle spasm

CACNA1S GALC CLCN1 ACADVL SCN4A CHRNE

1.17e-03178356HP:0003394
HumanPhenoMyoglobinuria

CACNA1S ACADVL SGCB

1.17e-0331353HP:0002913
HumanPhenoAbnormal shoulder morphology

POMT2 GALC SGCB SCN4A AGRN EMILIN1 CHRNE

1.18e-03246357HP:0003043
HumanPhenoAbnormal circulating creatine kinase concentration

POMT2 SPTBN4 CACNA1S UBA1 PANK2 ACADVL SGCB SCN4A

1.22e-03322358HP:0040081
HumanPhenoLate-onset proximal muscle weakness

CACNA1S SCN4A

1.25e-038352HP:0003694
HumanPhenoFatigable weakness

POMT2 CACNA1S SCN4A AGRN CHRNE

1.28e-03121355HP:0003473
MousePhenomuscle twitch

GALC CLCN1 PPT2 SYNM SCN4A AGRN

1.23e-0664766MP:0009046
MousePhenoimpaired skeletal muscle contractility

CKM CACNA1S CLCN1 SCN4A CHRNE

3.83e-0644765MP:0002841
MousePhenoabnormal muscle physiology

SPTBN4 CKM CACNA1S GALC ADRA2B SLC4A7 CLCN1 PPT2 ACADVL SYNM SGCB LPO SCN4A CACNA1H TNKS AGRN CHRNE

1.08e-059547617MP:0002106
MousePhenoabnormal muscle electrophysiology

CACNA1S CLCN1 SYNM SCN4A

2.58e-0532764MP:0004145
MousePhenoparaparesis

SPTBN4 GALC CLCN1 AGRN

2.58e-0532764MP:0009434
MousePhenohindlimb paresis

SPTBN4 GALC CLCN1 AGRN

4.65e-0537764MP:0031204
MousePhenoabnormal muscle contractility

SPTBN4 CKM CACNA1S ADRA2B SLC4A7 CLCN1 SYNM SCN4A CACNA1H CHRNE

8.40e-054187610MP:0005620
MousePhenoabnormal skeletal muscle morphology

CKM CACNA1S CLCN1 ACADVL SYNM SGCB SCN4A ELP1 AGRN FREM1 CHRNE

8.84e-055087611MP:0000759
MousePhenoabnormal skeletal muscle mass

CACNA1S CLCN1 SYNM SCN4A AGRN CHRNE

1.57e-04149766MP:0004817
MousePhenoparesis

SPTBN4 GALC CLCN1 AGRN

1.93e-0453764MP:0000754
MousePhenomyopathy

CACNA1S SYNM SCN4A AGRN

2.08e-0454764MP:0000751
DomainNa_channel_asu

SCN1A SCN2A SCN3A SCN4A SCN9A

6.07e-1010915IPR001696
DomainNa_trans_assoc

SCN1A SCN2A SCN3A SCN4A SCN9A

6.07e-1010915IPR010526
DomainNa_trans_assoc

SCN1A SCN2A SCN3A SCN4A SCN9A

6.07e-1010915PF06512
DomainNa_trans_cytopl

SCN1A SCN2A SCN3A SCN9A

7.85e-096914PF11933
DomainNa_trans_cytopl

SCN1A SCN2A SCN3A SCN9A

7.85e-096914IPR024583
DomainChannel_four-helix_dom

CACNA1S SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

1.12e-0857917IPR027359
Domain-

CACNA1S SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

1.12e-08579171.20.120.350
DomainIon_trans_dom

CACNA1S SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

1.39e-06114917IPR005821
DomainIon_trans

CACNA1S SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

1.39e-06114917PF00520
DomainIQ

SCN1A SCN2A SCN3A SCN4A SCN9A

4.70e-0581915SM00015
DomainIQ_motif_EF-hand-BS

SCN1A SCN2A SCN3A SCN4A SCN9A

7.79e-0590915IPR000048
DomainIQ

SCN1A SCN2A SCN3A SCN4A SCN9A

9.11e-0593915PS50096
DomainATP-gua_PtransN

CKB CKM

1.40e-044912PF02807
DomainPHOSPHAGEN_KINASE

CKB CKM

1.40e-044912PS00112
DomainATP-guanido_PTrfase_N

CKB CKM

1.40e-044912IPR022413
DomainATP-guanido_PTrfase_AS

CKB CKM

1.40e-044912IPR022415
DomainATP-guanido_PTrfase_cat

CKB CKM

1.40e-044912IPR022414
DomainATP-gua_Ptrans

CKB CKM

1.40e-044912PF00217
Domain-

CKB CKM

1.40e-0449121.10.135.10
DomainPHOSPHAGEN_KINASE_N

CKB CKM

1.40e-044912PS51509
DomainPHOSPHAGEN_KINASE_C

CKB CKM

1.40e-044912PS51510
DomainATP-guanido_PTrfase

CKB CKM

2.33e-045912IPR000749
DomainGln_synth/guanido_kin_cat_dom

CKB CKM

3.48e-046912IPR014746
DomainAlpha/beta_knot_MTases

MRM1 EMG1

3.48e-046912IPR029028
Domain-

CKB CKM

3.48e-0469123.30.590.10
DomainIQ

SCN1A SCN3A SCN4A SCN9A

3.99e-0471914PF00612
DomainLRR

LRR1 IGFALS CIITA LINGO4 LRRC58 GP5

4.50e-04201916PS51450
DomainANION_EXCHANGER_2

SLC4A7 SLC4A8

4.85e-047912PS00220
DomainANION_EXCHANGER_1

SLC4A7 SLC4A8

4.85e-047912PS00219
DomainLRR_1

LRR1 IGFALS CIITA LINGO4 LRRC58 GP5

7.06e-04219916PF00560
DomainBand3_cytoplasmic_dom

SLC4A7 SLC4A8

8.27e-049912IPR013769
DomainBand_3_cyto

SLC4A7 SLC4A8

8.27e-049912PF07565
Domain-

SLC4A7 SLC4A8

8.27e-0499123.40.1100.10
DomainHCO3_cotransp

SLC4A7 SLC4A8

1.03e-0310912PF00955
DomainHCO3_transpt_C

SLC4A7 SLC4A8

1.03e-0310912IPR011531
DomainPTrfase/Anion_transptr

SLC4A7 SLC4A8

1.03e-0310912IPR016152
DomainVDCCAlpha1

CACNA1S CACNA1H

1.03e-0310912IPR002077
DomainHCO3_transpt_euk

SLC4A7 SLC4A8

1.03e-0310912IPR003020
Domain-

UBA1 ACLY HSD3B1 VAT1L PHGDH

1.42e-031699153.40.50.720
DomainNAD(P)-bd_dom

UBA1 ACLY HSD3B1 VAT1L PHGDH

1.57e-03173915IPR016040
DomainLeu-rich_rpt_typical-subtyp

LRR1 IGFALS LINGO4 LRRC58 GP5

1.74e-03177915IPR003591
DomainLRR_TYP

LRR1 IGFALS LINGO4 LRRC58 GP5

1.74e-03177915SM00369
DomainATPase_dyneun-rel_AAA

MDN1 DNAH6

2.06e-0314912IPR011704
DomainAAA_5

MDN1 DNAH6

2.06e-0314912PF07728
DomainLeu-rich_rpt

LRR1 IGFALS CIITA LINGO4 LRRC58 GP5

2.10e-03271916IPR001611
Domain-

ACACA ACLY

3.41e-03189123.30.470.20
Domain-

LRR1 IGFALS CIITA LINGO4 LRRC58 GP5

4.83e-033219163.80.10.10
PathwayREACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS

SPTBN4 SCN1A SCN2A SCN3A SCN4A SCN9A

1.13e-0831746M877
PathwayREACTOME_PHASE_0_RAPID_DEPOLARISATION

SCN1A SCN2A SCN3A SCN4A SCN9A

6.27e-0732745M27455
PathwayREACTOME_L1CAM_INTERACTIONS

SPTBN4 SCN1A SCN2A SCN3A SCN4A SCN9A

4.06e-05121746M872
PathwayREACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH

SPTBN4 CACNA1S CACNA1H AGRN

3.30e-0463744M11187
PathwayWP_DRAVET_SYNDROME

SCN1A SCN2A SCN3A

4.14e-0428743M45519
PathwayREACTOME_HS_GAG_BIOSYNTHESIS

HS3ST3B1 HS3ST3A1 AGRN

4.60e-0429743MM14802
PathwayKEGG_MEDICUS_REFERENCE_CREATINE_PATHWAY

CKB CKM

5.61e-047742M47940
PathwayREACTOME_HS_GAG_BIOSYNTHESIS

HS3ST3B1 HS3ST3A1 AGRN

5.62e-0431743M685
PathwayREACTOME_CARDIAC_CONDUCTION

SCN1A SCN2A SCN3A SCN4A SCN9A

5.98e-04130745M27454
PathwayREACTOME_FATTY_ACYL_COA_BIOSYNTHESIS

PPT2 ACACA ACLY

6.17e-0432743MM15446
PathwayREACTOME_MUSCLE_CONTRACTION

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

6.80e-04203746M5485
PathwayREACTOME_CHREBP_ACTIVATES_METABOLIC_GENE_EXPRESSION

ACACA ACLY

7.46e-048742M26991
PathwayREACTOME_NERVOUS_SYSTEM_DEVELOPMENT

SPTBN4 CACNA1S SCN1A SCN2A SCN3A SCN4A SCN9A GRB7 CACNA1H AGRN

8.06e-045757410M29853
PathwayREACTOME_FATTY_ACYL_COA_BIOSYNTHESIS

PPT2 ACACA ACLY

9.49e-0437743M729
Pubmed

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

SCN1A SCN2A SCN3A SCN4A SCN9A

1.53e-11993516382098
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 SCN9A

2.39e-1059348812438
Pubmed

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

SCN1A SCN2A SCN3A SCN9A

7.16e-10693423652591
Pubmed

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

SCN1A SCN2A SCN3A SCN4A

5.97e-09993415746173
Pubmed

Voltage-gated sodium channels in taste bud cells.

SCN2A SCN3A SCN9A

1.85e-08393319284629
Pubmed

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

SCN1A SCN2A SCN3A

1.85e-08393312610651
Pubmed

Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).

SCN1A SCN3A SCN9A

1.85e-08393333895391
Pubmed

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

SCN1A SCN2A SCN3A

1.85e-08393323859570
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

1.85e-08393318784617
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

1.85e-08393317544618
Pubmed

Mutation spectrum and health status in skeletal muscle channelopathies in Japan.

CACNA1S CLCN1 SCN4A

1.85e-08393332660787
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

1.85e-08393314973256
Pubmed

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

SCN1A SCN2A SCN3A SCN9A

3.36e-081393415123669
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

7.39e-08493317537961
Pubmed

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

SCN1A SCN2A SCN3A

7.39e-08493335031483
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

7.39e-08493329578003
Pubmed

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

SCN1A SCN2A SCN3A

7.39e-08493335801810
Pubmed

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

SCN1A SCN2A SCN3A

7.39e-0849338974318
Pubmed

Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development.

CACNA1S CLCN1 SCN1A SCN3A SCN4A SCN9A CACNA1H

9.95e-0813993716985003
Pubmed

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

SCN1A SCN2A SCN3A

1.84e-0759331679748
Pubmed

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

SCN2A SCN3A SCN4A

1.84e-07593317724025
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

1.84e-07593324337656
Pubmed

Novel effects of chromosome Y on cardiac regulation, chromatin remodeling, and neonatal programming in male mice.

HSD3B1 KDM5D UTY

6.43e-07793324105479
Pubmed

AMPK, a Regulator of Metabolism and Autophagy, Is Activated by Lysosomal Damage via a Novel Galectin-Directed Ubiquitin Signal Transduction System.

CKB PDIA6 UBA1 SLC4A7 MDN1 ACACA ACLY PALS2 PHGDH DHX9

7.15e-07484931031995728
Pubmed

EZH2 interacts with HP1BP3 to epigenetically activate WNT7B that promotes temozolomide resistance in glioblastoma.

CKB PDIA6 UBA1 DIS3L2 ACADVL ACLY SCN2A EMG1 KDM5D AGRN PHGDH DHX9

1.59e-06803931236517590
Pubmed

Regulation of PKD by the MAPK p38delta in insulin secretion and glucose homeostasis.

CKB PDIA6 UBA1 PHGDH DHX9

3.20e-068493519135240
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

4.00e-06129338169823
Pubmed

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

SCN1A SCN2A SCN3A

4.00e-061293330175250
Pubmed

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

SCN1A SCN2A

7.07e-06293229649454
Pubmed

The effects of prior calcium channel blocker therapy on creatine kinase-MB levels after percutaneous coronary interventions.

CKB CKM

7.07e-06293219337554
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

7.07e-06293220346423
Pubmed

Dissimilarity in the folding of human cytosolic creatine kinase isoenzymes.

CKB CKM

7.07e-06293221931810
Pubmed

State- and use-dependent block of muscle Nav1.4 and neuronal Nav1.7 voltage-gated Na+ channel isoforms by ranolazine.

SCN4A SCN9A

7.07e-06293218079277
Pubmed

Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

CLCN1 SCN4A

7.07e-06293219211598
Pubmed

A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.

CLCN1 SCN4A

7.07e-06293212370472
Pubmed

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

SCN1A SCN2A

7.07e-06293210827969
Pubmed

Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.

CLCN1 SCN4A

7.07e-06293235866763
Pubmed

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

SCN1A SCN2A

7.07e-06293219694741
Pubmed

Myocardial creatine kinase expression after left ventricular assist device support.

CKB CKM

7.07e-06293212039490
Pubmed

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

SCN2A SCN3A

7.07e-06293211245985
Pubmed

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

CLCN1 SCN4A

7.07e-06293217998485
Pubmed

Creatine kinase transcript accumulation: effect of nerve during muscle development.

CKB CKM

7.07e-06293210417818
Pubmed

Subunit conformation and dynamics in a heterodimeric protein: studies of the hybrid isozyme of creatine kinase.

CKB CKM

7.07e-0629329748661
Pubmed

Localization of a human brain sodium channel gene (SCN2A) to chromosome 2.

SPTBN4 SCN2A

7.07e-0629322571571
Pubmed

Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis.

CACNA1S SCN4A

7.07e-06293215072700
Pubmed

Exploring the role of the active site cysteine in human muscle creatine kinase.

CKB CKM

7.07e-06293216981706
Pubmed

Creatine kinase activity in normal and Duchenne muscular dystrophy fibroblasts.

CKB CKM

7.07e-0629327057800
Pubmed

Differential expression of two sodium channel subtypes in human brain.

SCN1A SCN2A

7.07e-0629321317301
Pubmed

Creatine kinase in non-muscle tissues and cells.

CKB CKM

7.07e-0629327808454
Pubmed

Approaching the multifaceted nature of energy metabolism: inactivation of the cytosolic creatine kinases via homologous recombination in mouse embryonic stem cells.

CKB CKM

7.07e-0629327808458
Pubmed

A novel role for 3-O-sulfated heparan sulfate in herpes simplex virus 1 entry.

HS3ST3B1 HS3ST3A1

7.07e-06293210520990
Pubmed

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

SCN2A SCN3A

7.07e-06293223016767
Pubmed

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

SCN2A SCN3A

7.07e-06293227153334
Pubmed

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

SCN1A SCN2A

7.07e-06293233096315
Pubmed

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

CLCN1 SCN4A

7.07e-06293218337730
Pubmed

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

SCN1A SCN3A

7.07e-06293224990319
Pubmed

Na+ current properties in islet α- and β-cells reflect cell-specific Scn3a and Scn9a expression.

SCN3A SCN9A

7.07e-06293225172946
Pubmed

Double trouble in a patient with myotonia.

CLCN1 SCN4A

7.07e-06293223417379
Pubmed

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

SCN1A SCN2A

7.07e-06293231439038
Pubmed

Structural analysis of the sulfotransferase (3-o-sulfotransferase isoform 3) involved in the biosynthesis of an entry receptor for herpes simplex virus 1.

HS3ST3B1 HS3ST3A1

7.07e-06293215304505
Pubmed

Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.

CACNA1S SCN4A

7.07e-06293226252573
Pubmed

Genetic variations in genes involved in heparan sulphate biosynthesis are associated with Plasmodium falciparum parasitaemia: a familial study in Burkina Faso.

HS3ST3B1 HS3ST3A1

7.07e-06293222475533
Pubmed

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.

CLCN1 SCN4A

7.07e-06293231544778
Pubmed

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.

CLCN1 SCN4A

7.07e-06293232593548
Pubmed

Diagnostic significance of total creatine kinase and its isoform in tubal ectopic pregnancy.

CKB CKM

7.07e-06293223876027
Pubmed

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

SCN1A SCN2A

7.07e-06293226311622
Pubmed

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

CACNA1S SCN4A

7.07e-06293219118277
Pubmed

Voltage-dependent Ca2+ release is impaired in hypokalemic periodic paralysis caused by CaV1.1-R528H but not by NaV1.4-R669H.

CACNA1S SCN4A

7.07e-06293235759432
Pubmed

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.

CLCN1 SCN4A

7.07e-06293233670307
Pubmed

Polymorphisms, de novo lipogenesis, and plasma triglyceride response following fish oil supplementation.

ACACA ACLY

7.07e-06293223886516
Pubmed

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

SCN1A SCN2A

7.07e-06293215249644
Pubmed

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

SCN1A SCN3A

7.07e-06293227690330
Pubmed

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

CLCN1 SCN4A

7.07e-06293223771340
Pubmed

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

SCN1A SCN2A

7.07e-06293221377452
Pubmed

Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.

CLCN1 SCN4A

7.07e-06293236720299
Pubmed

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.

CACNA1S SCN4A

7.07e-06293234608571
Pubmed

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

SCN1A SCN3A

7.07e-06293223965409
Pubmed

Genotype and phenotype analysis of patients with sporadic periodic paralysis.

CACNA1S SCN4A

7.07e-06293221841462
Pubmed

Increased Expression of Y-Encoded Demethylases During Differentiation of Human Male Neural Stem Cells.

KDM5D UTY

7.07e-06293233040644
Pubmed

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

CLCN1 SCN4A

7.07e-06293227415035
Pubmed

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

SCN1A SCN2A

7.07e-06293230693367
Pubmed

The mechanism underlying transient weakness in myotonia congenita.

CACNA1S CLCN1

7.07e-06293233904400
Pubmed

Confirmation of quantitative trait loci for alcohol preference in mice.

SCN1A SCN2A SCN3A

8.23e-06159339726281
Pubmed

14-3-3-affinity purification of over 200 human phosphoproteins reveals new links to regulation of cellular metabolism, proliferation and trafficking.

PDIA6 UBA1 ACACA ACADVL ACLY OPLAH

1.12e-0518693614744259
Pubmed

Sex differences in sex chromosome gene expression in mouse brain.

UBA1 KDM5D UTY

1.47e-051893312023983
Pubmed

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

SCN1A SCN2A

2.12e-05393228784306
Pubmed

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

SCN1A SCN2A

2.12e-05393232185219
Pubmed

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

SCN1A SCN2A

2.12e-05393232005694
Pubmed

Population genetic implications from sequence variation in four Y chromosome genes.

KDM5D UTY

2.12e-05393210861003
Pubmed

Secretion of three enzymes for fatty acid synthesis into mouse milk in association with fat globules, and rapid decrease of the secreted enzymes by treatment with rapamycin.

ACACA ACLY

2.12e-05393221281598
Pubmed

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.

HS3ST3B1 HS3ST3A1

2.12e-05393212384783
Pubmed

Abnormal expression of voltage-gated sodium channels Nav1.7, Nav1.3 and Nav1.8 in trigeminal neuralgia.

SCN3A SCN9A

2.12e-05393219699781
Pubmed

Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA.

SLC4A7 SLC4A8

2.12e-05393214736710
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

2.12e-05393232845893
Pubmed

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

SPTBN4 SCN2A

2.12e-05393216033895
Pubmed

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

SCN4A SCN9A

2.12e-05393220038812
Pubmed

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

SCN1A SCN2A

2.12e-05393228518218
Pubmed

GAPDH-mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions.

SCN1A SCN3A

2.12e-05393227816501
Pubmed

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

SCN1A SCN2A

2.12e-05393219270815
Pubmed

Hypokalemic Periodic Paralysis

CACNA1S SCN4A

2.12e-05393220301512
CytobandEnsembl 112 genes in cytogenetic band chr2q24

SCN1A SCN2A SCN3A SCN9A

1.35e-04127934chr2q24
Cytoband2q24

SCN3A SCN9A

2.21e-04119322q24
CytobandYq11

KDM5D UTY

2.64e-0412932Yq11
Cytoband2q24.3

SCN1A SCN2A

4.78e-04169322q24.3
GeneFamilySodium voltage-gated channel alpha subunits

SCN1A SCN2A SCN3A SCN4A SCN9A

5.01e-1196251203
GeneFamilySPOUT methyltranferase domain containing

MRM1 EMG1

3.20e-0486221294
GeneFamilyPDZ domain containing

LNX2 PALS2 PARD3 SDCBP2

1.83e-031526241220
GeneFamilyPHD finger proteins|Lysine demethylases

KDM5D UTY

3.04e-0324622485
GeneFamilyCalcium voltage-gated channel subunits

CACNA1S CACNA1H

3.57e-0326622253
CoexpressionMIKKELSEN_MEF_ICP_WITH_H3K27ME3

CIITA AVPR1B SCN1A LPO SCN9A LINGO4 GRB7

9.23e-06207937M1963
CoexpressionMIKKELSEN_MEF_ICP_WITH_H3K27ME3

CIITA AVPR1B SCN1A LPO SCN9A LINGO4 GRB7

1.50e-05223937MM838
ToppCell5'-GW_trimst-1.5-SmallIntestine-Epithelial-epithelial_progenitor_cell-Distal_progenitor|GW_trimst-1.5 / Celltypes from developing, pediatric, Crohn's, & adult GI tract

IGFALS LPO RAVER2 GRB7 LTB4R KDM5D

1.01e-06158936ab707bfe782c667b252b488ad1d7efd49cf0a899
ToppCell10x5'-lymph-node_spleen-Hematopoietic_progenitors-Progenitor|lymph-node_spleen / Manually curated celltypes from each tissue

NYNRIN SCN3A SCN9A NEURL1B PARD3 EMILIN1

1.30e-061659367b992843bd8ef92a7a76b1d681fa84efde6f5bdd
ToppCellfacs-Marrow-KLS-3m-Myeloid|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB LRR1 PDIA6 SLC4A8 CLDN25 PALS2

2.86e-06189936b28a0e2d5a5f512f9b137b162b195bdc3d5ee9ba
ToppCelldroplet-Pancreas-PANCREAS-30m-Epithelial-pancreatic_B_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB SLC4A7 ACLY ZFR KDM5D UTY

3.42e-061959363e519cffa6144a62b06124642a14c9ff39b76554
ToppCelldroplet-Pancreas-PANCREAS-30m-Epithelial-pancreatic_B_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB SLC4A7 ACLY ZFR KDM5D UTY

3.42e-061959367796ea9247f4c63762f0de8490fed08b9717fa23
ToppCellLAM-Endothelial-LymEndo|Endothelial / Condition, Lineage and Cell class

SLC4A7 SYNM SCN3A SCN9A TNFAIP8L1 EMILIN1

3.73e-06198936ba64b1c95dfaa995045239d412e725596f6c482e
ToppCellEndothelial-G|World / shred on cell class and cell subclass (v4)

MROH6 MOGAT2 ENPP3 SCN3A TNFAIP8L1

6.28e-061249354b72809463f2986b7d1b7ab9de633ac4d7854a92
ToppCell3'_v3-bone_marrow-Lymphocytic_Invariant-Inducer-like-ILC3|bone_marrow / Manually curated celltypes from each tissue

NOTUM NYNRIN SCN2A SCN9A LINGO4

1.53e-05149935d7f1069f70f3cad6d3700ee2041ed1d4cb7c49ab
ToppCellfacs-Marrow-KLS-3m-Lymphocytic-BM_CD8_+_CD4_T_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

RAVER2 PARD3 HS3ST3B1 OPLAH GP5

2.09e-05159935e967b557fe6ae4879d36f62c0297cbf6a2ad1ce9
ToppCellfacs-Marrow-KLS-3m-Lymphocytic-mature_alpha-beta_T_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

RAVER2 PARD3 HS3ST3B1 OPLAH GP5

2.09e-051599359db971130509c62d439e0cab16588a4d994d7aa0
ToppCelldroplet-Lung-nan-3m-Myeloid-Myeloid_Dendritic_Type_1|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB MDN1 CIITA LTB4R LRRC58

2.29e-051629358a488ecd25ef41468c3c7766eb936dbc2f7665a9
ToppCell10x_3'_v3-blood_(10x_3'_v3)-myeloid-myeloid_dendritic|blood_(10x_3'_v3) / Per Platform+tissue_group, by lineage_subgroup, cell_group, cell_type

AVPR1B NYNRIN LINGO4 NEURL1B FREM1

2.29e-05162935233011408f022647932c81ebab78f9813e3c6833
ToppCelldroplet-Lung-nan-3m-Myeloid-myeloid_dendritic_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB MDN1 CIITA LTB4R LRRC58

2.43e-05164935a67dd181eba275c191f4d0cab13df30eaa3ad913
ToppCellPND03-Endothelial-Endothelial_lymphatic-Lymphatic_EC-LEC|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

MOGAT2 ENPP3 SCN1A SCN3A TNFAIP8L1

2.50e-05165935347b59aa625a8a960828b8620824d8ac48990e07
ToppCellPND03-Endothelial-Endothelial_lymphatic-Lymphatic_EC|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

MOGAT2 ENPP3 SCN1A SCN3A TNFAIP8L1

2.50e-05165935507c89ece0a336b8e9c65b79889a714e17ddca27
ToppCellPND03-Endothelial-Endothelial_lymphatic-Lymphatic_EC-LEC-LEC_mature|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

MOGAT2 ENPP3 SCN1A SCN3A TNFAIP8L1

2.50e-0516593539a25be081a5d59c7cf107a997d352793d5025fb
ToppCellPND03-Endothelial-Endothelial_lymphatic|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

MOGAT2 ENPP3 SCN1A SCN3A TNFAIP8L1

2.50e-051659351890f9c33b0c5b381d57f97042da2610a093a6de
ToppCelldroplet-Lung-18m-Hematologic-myeloid-myeloid_dendritic_cell|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CKB LRR1 CIITA AVPR1B PALS2

2.73e-05168935d6078e3a79d315d6090906e171a7d67a9206b2c7
ToppCelldroplet-Lung-1m-Hematologic-myeloid-myeloid_dendritic_cell|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CKB CACNA1S CIITA LTB4R PALS2

2.73e-0516893599148986aa5628f67d85258c171b254be77a071c
ToppCellHealthy_Control-Lymphoid-pDC|Healthy_Control / Condition, Lineage, Cell class and cell subclass

SCN9A ANKRD34A PALS2 HS3ST3B1 EMILIN1

2.80e-05169935a4e9b8b2f0338203455ba941b8f99bf4884d26f0
ToppCellHealthy_Control-Lymphoid-pDC-|Healthy_Control / Condition, Lineage, Cell class and cell subclass

SCN9A ANKRD34A PALS2 HS3ST3B1 EMILIN1

2.80e-05169935338ce99897cb522b86edd603f75bc15ec4dfcda3
ToppCelldroplet-Lung-18m-Hematologic-myeloid-myeloid_dendritic_cell-dendritic_type_2|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CKB CACNA1S CIITA AVPR1B PALS2

2.88e-05170935bf589c4297ccc90e5f51e3d0fcc229548af4fcef
ToppCelldroplet-Lung-1m-Hematologic-myeloid-myeloid_dendritic_cell-myeloid_dendritic_type_1|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CKB CACNA1S CIITA LTB4R PALS2

2.97e-0517193538a05b5ec8ef8f09a2399994c6b4b9a707918ec1
ToppCell5'-Adult-LargeIntestine-Epithelial-neuro-epithelial|Adult / Celltypes from developing, pediatric, Crohn's, & adult GI tract

SPTBN4 CKM AVPR1B SCN3A CACNA1H

3.22e-051749359f114e61458659005b6d0b4aa30a7a059e7aa5c6
ToppCellrenal_cortex_nuclei-Hypertensive_with+without-CKD-Epithelial-Distal_tubule_epithelial_cell-kidney_loop_of_Henle_thick_ascending_limb_epithelial_cell-Medullary_Thick_Ascending_Limb_Cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

CKB SLC4A7 SLC4A8 VAT1L FREM1

3.31e-05175935e5467dacf81f1f913b1719931cf1a7331434a7e7
ToppCelldroplet-Marrow-nan-24m-Lymphocytic|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB PDIA6 SLC4A8 EMILIN1 PHGDH

4.10e-05183935b5782b18decfe85026acf42daac0670d92385861
ToppCellLV-07._Pericyte|World / Chamber and Cluster_Paper

ADRA2B SCN3A CACNA1H NEURL1B PARD3

4.10e-05183935273db6a3b00a93ca852498471187b642b5368185
ToppCelldroplet-Marrow-nan-24m-Lymphocytic-nan|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB PDIA6 SLC4A8 EMILIN1 PHGDH

4.10e-05183935e32847cfebba7c8bb2026e33c3c85f64819460a9
ToppCelldroplet-Marrow-nan-24m-Myeloid-macrophage|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

WDR74 SLC4A8 LPO EMILIN1 PHGDH

4.54e-05187935f491ec986dd44e2dabdf4a75c3101e3b6c921872
ToppCellrenal_medulla_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 SLC4A7 SLC4A8 CACNA1H VAT1L

4.54e-0518793585e58a312fc325e4063a2d250666b99b8f99beb6
ToppCellrenal_medulla_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Distal_tubule_epithelial_cell-kidney_loop_of_Henle_thick_ascending_limb_epithelial_cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

CKB SLC4A7 SLC4A8 CACNA1H VAT1L

4.54e-0518793552b5b38bef3cc06487cf42c6fb22fb33f0c7ce2b
ToppCellRV-07._Pericyte|World / Chamber and Cluster_Paper

SCN3A CACNA1H NEURL1B PARD3 EMILIN1

4.54e-05187935dc274d6bbda619a2c914d84e2b4069cfef1739d1
ToppCelldroplet-Heart-4Chambers-21m-Mesenchymal-smooth_muscle_cell|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ADRA2B SLC4A8 SCN3A ANKRD34A CACNA1H

4.54e-051879358ff9f771d10c372d771c92dfa9006aa81aec4681
ToppCelldroplet-Marrow-nan-24m-Myeloid-Cd4_positive_Macrophages|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

WDR74 SLC4A8 LPO EMILIN1 PHGDH

4.54e-0518793596dc5dc4dbc1b33c2e66666e9027cfbf7972090b
ToppCellfacs-Pancreas-Endocrine-24m-Epithelial-pancreatic_B_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB SPTBN4 SLC4A7 ACLY EMILIN1

4.66e-05188935a91443aa8fa8fa87f7501c59219daa0305bd0bbf
ToppCelldroplet-Marrow-BM_(NON-STC)-30m-Lymphocytic-naive_T_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

PDIA6 SLC4A8 MOGAT2 EMILIN1 PHGDH

4.90e-05190935a1b5775a21d42633224b7d348f0d12b0589dad12
ToppCelldroplet-Spleen-SPLEEN-30m-Lymphocytic-immature_NKT_cell|Spleen / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

LRR1 RAVER2 TNFAIP8L1 NEURL1B CDC6

5.02e-05191935c8b99bd3a30c81ee4deba9cbf0196920ab3ab550
ToppCelldroplet-Tongue-Unstain-18m-Epithelial-parabasal|Tongue / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB DDAH2 NOTUM TDH SDCBP2

5.15e-05192935c7185fbc56ffd4c62db47fc240b3207ef65db40e
ToppCellfacs-Liver-Liver_non-hepato/SCs-18m-Endothelial-nan|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SPTBN4 ADRA2B SCN3A HS3ST3B1 LRRC58

5.28e-051939352483bb7f398e4fa0ef09c8bd584ed25703853f03
ToppCellfacs-Pancreas-Endocrine-18m-Epithelial-pancreatic_B_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB SLC4A7 IGFALS ACLY EMILIN1

5.54e-05195935bd8e24dd598990204998d1dd853ba7a53dc0107e
ToppCellfacs-Pancreas-Endocrine-18m-Epithelial-pancreatic_B_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB SLC4A7 IGFALS ACLY EMILIN1

5.54e-0519593558b769da05a8f6b05aeb08d4f8b112941087ad00
ToppCell(08)_PNEC|World / shred by cell type and Timepoint

IGFALS SCN3A SCN9A CACNA1H MAP3K15

5.68e-051969352ee37155c03cd5009427a4bffe6c80ed2ac6939e
ToppCellBronchial-10x5prime-Epithelial-Epi_submucosal-gland-SMG_Serous|10x5prime / Cell types per location group and 10X technology with lineage, and cell group designations

LPO GRB7 CDC6 SDCBP2 PHGDH

5.82e-0519793592a66e3b5ddc3d55527c31e0d9cff15c2203ecfc
ToppCellTracheal-NucSeq-Stromal-Myofibroblastic-Muscle_smooth_systemic_arterial|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

ADRA2B SYNM SCN3A CACNA1H NEURL1B

5.96e-051989357dd874b09c81cc512ccc1e9b65f290a5f94d736e
ToppCelldistal-mesenchymal-Myofibroblast-2|distal / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)

SSC5D NOTUM SGCB HS3ST3A1 EIF3CL

5.96e-05198935beef5075ba6dcd4d0a447bc4e57efcaf2e93c546
ToppCellkidney_cells-Hypertensive_with+without-CKD-Mesenchymal|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

ADRA2B SYNM SCN3A NEURL1B EMILIN1

5.96e-0519893554c8aa47040bc4977eed382514fc4ceae03f54f8
ToppCellPrimary_Motor_Cortex_(M1)-Neuronal|Primary_Motor_Cortex_(M1) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

SPTBN4 SCN1A SCN2A SCN3A PALS2

5.96e-051989354ca5ff320905ab4ff60ed90a5522227c782142a6
ToppCellBronchial-NucSeq-Epithelial|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

LNX2 ACACA SCN1A KIAA1958 PARD3

6.10e-051999355f7da3eab58ace6cddb3179a415cd839d5767958
ToppCellBronchial-NucSeq-Epithelial-Epi_alveolar|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

LNX2 ACACA SCN1A KIAA1958 PARD3

6.10e-05199935725610310e5c5fd7120c0be9acb55bf152026ddd
ToppCellParenchymal-NucSeq-Epithelial-Epi_alveolar|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

LNX2 ACACA SCN1A KIAA1958 PARD3

6.10e-051999358587bd98de7767a575088afbea07a1feb4516b9b
ToppCellCOVID-19-COVID-19_Severe-Others-HSPC|COVID-19_Severe / Disease, condition lineage and cell class

DDAH2 NYNRIN SCN9A NEURL1B PHGDH

6.10e-0519993525de67b6c9c8d6bb9a538e071a40ef865906c95d
ToppCellBronchus_Control_(B.)-Stromal-TX-Smooth_muscle-2|Bronchus_Control_(B.) / Sample group, Lineage and Cell type

SYNM SCN3A CACNA1H NEURL1B EMILIN1

6.10e-051999352c5ad62919c64ea0242e0984bb9932d2d975f4e3
ToppCellCOVID-19-COVID-19_Mild-Others-HSPC|COVID-19_Mild / Disease, condition lineage and cell class

DDAH2 NYNRIN SCN9A NEURL1B EMILIN1

6.10e-051999350230103c37ae3aff58240739b89f2c36b1e39a69
ToppCellTracheal-NucSeq|Tracheal / Cell types per location group and 10X technology with lineage, and cell group designations

ACACA TNKS SPIDR PARD3 UTY

6.10e-0519993594b94b17ca18b8dc27b91da1f2ccf89e03cc7035
ToppCelldistal-mesenchymal-Myofibroblast-3|distal / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)

SSC5D NOTUM VAT1L HS3ST3A1 EMILIN1

6.25e-05200935069c8949b33ecfdb6da32992002d4060ff6082bc
ToppCellMS-Multiple_Sclerosis-Lymphocyte-T/NK-ILC|Multiple_Sclerosis / Disease, condition lineage and cell class

MRM1 SCN9A ANKRD34A KIAA1958 AGRN

6.25e-05200935ab9bdc9365cbdffe4ed246ce0c8a008a390e387e
ToppCelldistal-mesenchymal-Myofibroblast|distal / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)

SSC5D NOTUM VAT1L HS3ST3A1 EMILIN1

6.25e-0520093561854a459385cd9295be37157a8f81a2c227dff3
ToppCelldroplet-Skin-nan-18m-Epithelial|Skin / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TDH KDM5D LRRC58 UTY

1.25e-041229348f675dc341b3f6e22f7e52c34d167d9e37df0982
ToppCelldroplet-Skin-nan-18m-Epithelial-nan|Skin / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TDH KDM5D LRRC58 UTY

1.25e-04122934c7e81504e62d132624ec15b7d38dc5b6493a37a4
ToppCelldroplet-Skin-nan-18m|Skin / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

TDH KDM5D LRRC58 UTY

1.37e-041259345a309ce803d2b8efd791eb21808121bf5fc3ea8e
ToppCellTCGA-Brain-Primary_Tumor-Low_Grade_Glioma-Oligodendroglioma-2|TCGA-Brain / Sample_Type by Project: Shred V9

ACACA LPO LINGO4 TNKS

1.46e-04127934018ffd9ff1913787cb0086a8581b399a121eaba1
ToppCellPosterior_cortex-Neuronal-Excitatory-eN2(Slc17a7_Slc17a6)-Tshz2-Excitatory_Neuron.Sc17a7.Tshz2-Smoc1_(Agranular_Retrosplenial_cortex_(RSG)_(Smoc1+))-|Posterior_cortex / BrainAtlas - Mouse McCarroll V32

AVPR1B SCN4A HSD3B1

1.47e-04499334845246699a56fea657fd2697b612e93248f590f
ToppCellPosterior_cortex-Neuronal-Excitatory-eN2(Slc17a7_Slc17a6)-Tshz2-Excitatory_Neuron.Sc17a7.Tshz2-Smoc1_(Agranular_Retrosplenial_cortex_(RSG)_(Smoc1+))|Posterior_cortex / BrainAtlas - Mouse McCarroll V32

AVPR1B SCN4A HSD3B1

1.47e-04499335f1c5ebb6f113513b7e6945dfab07c3c34ebab41
ToppCellHippocampus-Endothelial-ENDOTHELIAL_TIP-Dcn_1-Dcn_1_1|Hippocampus / BrainAtlas - Mouse McCarroll V32

SSC5D NOTUM SCN4A EMILIN1

1.79e-04134934b959899c89d3a0363a3cd2309155280e0fe5ba88
ToppCellprimary_visual_cortex-Neuronal-glutamatergic_neuron-L5_PT-L5_PT_VISp_C1ql2_Cdh13|primary_visual_cortex / Per Region, Lineage, Cell class, Cell type, Cell subtype

RAVER2 CACNA1H VAT1L SDCBP2

1.89e-041369341f3000d5f105c87c80f8ae1dd2264bcd7f757a9c
ToppCellfacs-Trachea-18m-Mesenchymal-fibroblast-fibroblast_of_trachea-tracheal_fibroblast_l28|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

NOTUM MRM1 NYNRIN PALS2

2.29e-04143934b4ed3855652fdf32f97cb7c18cab4f4f4c24d5c7
ToppCellCOVID-19-Heart-CM_5_(RYR2-)|COVID-19 / Disease (COVID-19 only), tissue and cell type

CACNA1S CLCN1 SYNM SCN4A

2.36e-04144934f92e03dd784e31a9e5dbd4f4c3a6517ea19210cf
ToppCellPosterior_cortex-Neuronal-Excitatory-eN1(Slc17a7)-eN1_1-Bcl6|Posterior_cortex / BrainAtlas - Mouse McCarroll V32

RAVER2 CACNA1H VAT1L DNAH6

2.36e-0414493408005be9e3367f78ef27e125d9cce5ca53f4bd2d
ToppCell390C-Lymphocytic-CD8+_Cytotoxic_T-cell-CD8+_Cytotoxic_T_cell_0.5|Lymphocytic / Donor, Lineage, Cell class and subclass (all cells)

SLC4A8 PPT2 MED23 PARD3

2.48e-04146934cffa91d76606f74553d81150adbb23b003746316
ToppCellHippocampus-Neuronal-Excitatory-eN1(Slc17a7)-eN1_2|Hippocampus / BrainAtlas - Mouse McCarroll V32

AVPR1B RAVER2 CACNA1H NEURL1B

2.55e-041479348f725ff8fb4ced5db2643e80669d3f7945b820ab
ToppCell356C-Myeloid-Mast_cell|356C / Donor, Lineage, Cell class and subclass (all cells)

GALC ENPP3 LPO FREM1

2.62e-041489341668d8a9e680da335362744f36b05446c499347e
ToppCell356C-Myeloid-Mast_cell-|356C / Donor, Lineage, Cell class and subclass (all cells)

GALC ENPP3 LPO FREM1

2.62e-0414893418511ba10765eda937c5a710626361f7e6b9b321
ToppCell3'_v3-bone_marrow-Hematopoietic_progenitors-Progenitor|bone_marrow / Manually curated celltypes from each tissue

MOGAT2 NYNRIN SCN3A LINGO4

2.68e-04149934078e1e5765e476ba85c23fb8f6892b6698cbcbdb
ToppCellTCGA-Thymus-Primary_Tumor-Thymoma-Type_C-8|TCGA-Thymus / Sample_Type by Project: Shred V9

MROH6 GRB7 CLDN25 RELT

3.12e-0415593400eef9f93a753a1fe1ab5fd8dae026e7be556cde
ToppCellfacs-Trachea-nan-3m-Myeloid-lymphocyte_of_B_lineage|Trachea / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CACNA1S LRR1 SCN4A MAP3K15

3.27e-041579340fecc14959c4c9efc19d5c06475a890e0a30f148
ToppCellPND07-Endothelial-Endothelial_lymphatic|PND07 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

ENPP3 SCN1A SCN3A TNFAIP8L1

3.60e-04161934133b4fadb499e842c19f573f9cf09ce08c1d4813
ToppCellPND07-Endothelial-Endothelial_lymphatic-Lymphatic_EC|PND07 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

ENPP3 SCN1A SCN3A TNFAIP8L1

3.60e-041619349466b8658244116f8d21f2f88fb8c2d184b1bdf2
ToppCelldroplet-Lung-3m-Hematologic-lymphocytic-Zbtb32+_B_cell-Zbtb32+_B_cell|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CACNA1S SCN4A RELT PHGDH

3.60e-041619347af3b0d4fc7967f6b3e2d255d23fd8b1fd01a7af
ToppCellPND07-Endothelial-Endothelial_lymphatic-Lymphatic_EC-LEC|PND07 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

ENPP3 SCN1A SCN3A TNFAIP8L1

3.60e-04161934cb177ca10d848d0e25399ab5ebfcde1071fb94c2
ToppCellTCGA-Kidney-Primary_Tumor-Renal_Cell_Carcinoma-Kidney_Clear_Cell_Renal_Carcinoma-1|TCGA-Kidney / Sample_Type by Project: Shred V9

AVPR1B SGCB ENPP3 SCN4A

3.60e-041619346cacae4a759ace763597ee394cff498dc5d96f74
ToppCelldroplet-Lung-3m-Hematologic-lymphocytic-Zbtb32+_B_cell|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CACNA1S SCN4A RELT PHGDH

3.60e-0416193498be0cf8228496b31f7f3e0efd8787e95eb626d1
ToppCellControl-Epithelial-Ionocyte|World / Disease state, Lineage and Cell class

ADRA2B SCN9A LINGO4 CACNA1H

3.69e-04162934e3b9b46ce2faff7d099502df14bbf51e9f183f8c
ToppCelldroplet-Heart-nan-18m-Hematologic-nan|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CACNA1S LRR1 VAT1L DNAH6

3.69e-041629347f425a3983325a5a3ea33f812b15aa010cc55de0
ToppCellPND07-Endothelial-Endothelial_lymphatic-Lymphatic_EC-LEC-LEC_mature|PND07 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

ENPP3 SCN1A SCN3A TNFAIP8L1

3.69e-0416293496c6e94a10b124a1d25dcd705ec5aaa8609c1089
ToppCellControl-Epithelial-Ionocyte|Control / Disease state, Lineage and Cell class

ADRA2B SCN9A LINGO4 CACNA1H

3.77e-04163934bf09fa39bf3e6b3a776d5e79c30c96df572956a3
ToppCellrenal_cortex_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Collecting_tubule_epithelial_cell-kidney_collecting_duct_intercalated_cell-Connecting_Tubule_Intercalated_Cell_Type_A|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

SCN2A SCN3A VAT1L FREM1

3.95e-041659349bd332e5ede759a00a47728ea5558c215efdd77a
ToppCellfacs-Heart-RA-24m-Lymphocytic-B_cell|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CACNA1S CIITA SCN4A PHGDH

3.95e-0416593436415924d05373e9dd3665be599f4f3f40bf0497
ToppCelldroplet-Lung-18m-Hematologic-myeloid-myeloid_dendritic_cell-myeloid_dendritic_type_1|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CKB CIITA LTB4R PALS2

3.95e-041659341c630f9ecde2e0243922a2be4b1ab5adcfcb0893
ToppCellfacs-Heart-RA-24m-Lymphocytic-B_cell|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CACNA1S CIITA SCN4A PHGDH

3.95e-0416593456310fddd3d8e4afdfde066d26cee9747e5b8c6a
ToppCellCOVID-19_Mild-PLT_0|COVID-19_Mild / Disease Group and Platelet Clusters

SCN1A ANKRD34A ICE1 GP5

3.95e-04165934083a14d3b0162cee4e79f7398b8fb739582b39ff
ToppCelldroplet-Lung-LUNG-1m-Myeloid-myeloid_dendritic_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB CIITA LTB4R PALS2

4.04e-04166934c215c4aede38d355d35fd26cd7ef2c19efecd0e6
ToppCellControl-B_intermediate-1|Control / disease group and sub_cluster of B and Plasma cells(res = 0.5)

MDN1 ELP1 ICE1 EIF3CL

4.13e-04167934948504367ecf58144d9dd74d2ec531358fc4b309
ToppCelldroplet-Lung-21m-Hematologic-myeloid-myeloid_dendritic_cell-myeloid_dendritic_type_1|21m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CKB CIITA LTB4R PALS2

4.13e-041679349526e2c7673d569d04e0728a2526318e67432e0a
ToppCell3'_v3-lymph-node_spleen-Hematopoietic_progenitors-Progenitor|lymph-node_spleen / Manually curated celltypes from each tissue

DDAH2 NYNRIN SCN3A SCN9A

4.13e-04167934cb396f3edb9e8fdc316091e8e193dbba50e0be0c
ToppCelldroplet-Lung-LUNG-30m-Myeloid-Myeloid_Dendritic_Type_1|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB CIITA RELT PALS2

4.23e-041689342c996d09b6a8ccd3c708146eca310b02eafff425
ToppCellfacs-MAT-Fat-24m-Lymphocytic-T_cell|MAT / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SPTBN4 SCN9A LINGO4 LTB4R

4.23e-0416893422fa707689e8d6ca5154103b7374007d644d61c3
ToppCelldroplet-Lung-nan-18m-Myeloid-dendritic_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

LRR1 CIITA NEURL1B CDC6

4.23e-0416893496f7411474edd673b8d3ee6b8a8bb185c246daaf
ToppCelldroplet-Lung-30m-Hematologic-myeloid-myeloid_dendritic_cell|30m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CKB CACNA1S CIITA LRRC58

4.32e-04169934b2d53159e344fad6fcdc485d5b8f6cf1bf094b1f
ToppCellE18.5-Mesenchymal-Mesenchymal_structural-Fibroblastic-PMP-PMP_mature|E18.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

DDAH2 PPT2 SCN3A EMILIN1

4.32e-041699347cb1b87be66a22fe5731bb1b55bc515920fe3e8b
ToppCelldroplet-Lung-LUNG-1m-Myeloid-Myeloid_Dendritic_Type_2|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CKB SPTBN4 CACNA1S CIITA

4.32e-0416993446f0f0de9a0894c454f93032e7a7a800f47c8276
DrugZonisamide

SCN1A SCN2A SCN3A SCN4A SCN9A CACNA1H

4.71e-1117936DB00909
DrugN-(2-methyl-3-(4-(4-(4-(trifluoromethoxy)benzyloxy)piperidin-1-yl)-1,3,5-triazin-2-ylamino)phenyl)acetamide

SCN3A SCN4A SCN9A

6.60e-083933ctd:C561228
DrugScorpion Venoms

SCN2A SCN3A SCN4A SCN9A

7.64e-0718934ctd:D012604
Drugbepridil

CKB CKM CACNA1S SCN3A SCN4A SCN9A CACNA1H

8.58e-07126937CID000002351
DrugAPETx1, Anthopleura elegantissima

SCN2A SCN3A SCN4A

1.31e-066933ctd:C475726
Drugprocaine

CACNA1S DDAH2 SCN3A SCN4A SCN9A CACNA1H CHRNE

3.15e-06153937CID000004914
Drugverapamil

CKB CKM CACNA1S AP1AR ADRA2B SCN3A SCN4A SCN9A CACNA1H TAP2 CHRNE

5.10e-064909311CID000002520
DrugAC1L1CQC

CKB CKM SCN3A SCN4A SCN9A

6.94e-0665935CID000002012
Drugdisopyramide

SCN3A SCN4A SCN9A TNFAIP8L1 CHRNE

7.49e-0666935CID000003114
Druglamotrigine

CACNA1S SCN2A SCN3A SCN4A SCN9A CACNA1H

8.16e-06116936CID000003878
Drugfenfluramine

ADRA2B IGFALS SYNM SCN3A SCN4A SCN9A TNFAIP8L1

8.53e-06178937CID000003337
DrugNSC7524

CACNA1S SCN2A SCN3A SCN4A SCN9A CACNA1H CHRNE

9.86e-06182937CID000005657
Drug2-hydroxyglutarate

CKB CKM PHGDH OPLAH

1.10e-0534934CID000000043
Drugbenzocaine

SCN2A SCN3A SCN4A SCN9A

1.55e-0537934CID000002337
Drugmu-conotoxin KIIIA, Conus kinoshitai

SCN2A SCN4A

1.65e-052932ctd:C502265
Drugpropionyl-L-carnitine

CKB CKM ACADVL LPO

1.73e-0538934CID000107738
Drugestradiol, USP; Down 200; 0.01uM; PC3; HG-U133A

WDR74 SLC4A7 GRB7 CDC6 MED23 AGRN UTY

1.82e-05200937665_DN
Drugbupropion

SCN3A SCN4A SCN9A TAP2 CHRNE

2.05e-0581935CID000000444
Drugnoradrealine

CKB CKM CACNA1S ADRA2B ACACA SYNM SGCB TNFAIP8L1 CACNA1H TAP2 CHRNE

2.27e-055759311CID000000951
Drugsodium

CKB CKM CACNA1S SLC4A7 SLC4A8 SCN2A SCN3A SCN4A SCN9A ZFR CACNA1H HS3ST3A1 TAP2 CHRNE

2.83e-059449314CID000000923
Drugnonanol

SCN2A SCN4A PHGDH

2.90e-0515933CID000008914
Drugsalbutamol

ADRA2B SCN3A SCN4A SCN9A TNFAIP8L1 LTB4R

3.02e-05146936CID000002083
Drugquindine

CKM AP1AR SCN3A SCN4A SCN9A CHRNE GP5

3.25e-05219937CID000001065
Drugpilsicainide

SCN3A SCN4A SCN9A CHRNE

3.73e-0546934CID000004820
DrugKetone Bodies

CKB DPP7 SPTBN4 CLCN1 ACACA AVPR1B SCN1A CDK5RAP2 AGRN ANAPC4

5.42e-055229310ctd:D007657
Drugisradipine

CACNA1S SCN3A SCN4A SCN9A CACNA1H

5.66e-05100935CID000003784
Drugforskolin from Coleus forskohlii

CKB GALC ADRA2B IGFALS AVPR1B SGCB ACLY SCN3A SCN4A SCN9A TNFAIP8L1 ZFR CDC6 CHRNE

6.09e-0510139314CID000003413
Drugdiprafenone

SCN3A SCN4A SCN9A

6.10e-0519933CID000071249
Drugphenylpropionic acid

UBA1 ACADVL ACLY SCN2A TNFAIP8L1 ZFR

6.40e-05167936CID000000107
Drugsakyomicin A

ACACA ACADVL SCN4A KDM5D

7.06e-0554934CID000124041
Drugpyraclofos

CACNA1S SCN2A SCN4A SCN9A CACNA1H

7.47e-05106935CID000093460
Drugoleoyl-estrone

ACACA ACADVL ACLY HSD3B1

7.59e-0555934ctd:C108709
Drugacetazolamide

CACNA1S SLC4A7 SLC4A8 CLCN1 SCN4A

7.81e-05107935CID000001986
Drugisoproterenol

CKB CKM ADRA2B CLCN1 AVPR1B SGCB SCN3A SCN4A SCN9A ELP1 TNFAIP8L1

8.90e-056699311CID000003779
DrugPropofol

SCN2A SCN4A

9.85e-054932DB00818
DrugFospropofol

SCN2A SCN4A

9.85e-054932DB06716
DrugMcN-5691

CACNA1S ADRA2B

9.85e-054932CID000127269
Drugstrychnine HCl

SCN3A SCN4A SCN9A SDCBP2 TAP2 CHRNE

9.99e-05181936CID000005304
DrugMn-protoporphyrin

CKB ACLY LPO DHX9

1.00e-0459934CID000159910
DrugLowicryl HM20

SLC4A7 SLC4A8 SCN2A

1.10e-0423933CID000174488
DrugAC1NBU2S

CACNA1S DDAH2 SGCB CACNA1H LTB4R

1.19e-04117935CID004473765
Drugzonisamide

SCN3A SCN4A SCN9A CACNA1H

1.21e-0462934CID000005734
Drugpropofol

CACNA1S SCN3A SCN4A SCN9A TNFAIP8L1 CHRNE

1.34e-04191936CID000004943
Drughydrochlorothiazide

AVPR1B ACLY SCN3A SCN4A SCN9A

1.34e-04120935CID000003639
Drugsuccinylcholine

CKB CKM CACNA1S CHRNE

1.37e-0464934CID000005314
DrugAC1NT1AF

SCN3A SCN4A SCN9A

1.42e-0425933CID005322157
DrugMulticide

SCN2A SCN4A SCN9A

1.42e-0425933CID000024365
Drugsaxitoxin

SCN2A SCN3A SCN4A SCN9A

1.46e-0465934CID000037165
DrugCDK2 Inhibitor II

AP1AR SCN4A SCN9A SMG6

1.46e-0465934CID005858639
DrugFuraltadone hydrochloride [3759-92-0]; Up 200; 11uM; PC3; HT_HG-U133A

POMT2 AVPR1B NYNRIN GRB7 LTB4R SPIDR

1.50e-041959364313_UP
DrugPropylthiouracil [51-52-5]; Down 200; 23.4uM; HL60; HT_HG-U133A

GALC SLC4A7 SGCB ZFR SPIDR DHX9

1.54e-041969362476_DN
DrugAtropine sulfate monohydrate [5908-99-6]; Up 200; 5.8uM; MCF7; HT_HG-U133A

MRM1 GRB7 TNKS LTB4R SPIDR HS3ST3A1

1.59e-041979362761_UP
DrugPirmenolum

SCN3A SCN4A SCN9A

1.60e-0426933CID000004853
DrugATP gamma-(N-(2-chloroethyl)-N-methyl)amide

CKB CKM

1.64e-045932CID000174813
Drugepoxycreatine

CKB CKM

1.64e-045932CID000194341
Druggamma-benzylamide ATP

CKB CKM

1.64e-045932CID000194049
Drugvitamin K1 diacetate

CKB CKM

1.64e-045932CID006441272
DrugATP gamma-p-azidoanilide

CKB CKM

1.64e-045932CID003035480
Drughomocyclocreatine

CKB CKM

1.64e-045932CID000128636
DrugN-2-hydroxyethyl-N-methyl-gamma-amide ATP

CKB CKM

1.64e-045932CID000195952
Drugsteroid U

CKB CKM

1.64e-045932CID000133659
Druggamma-anilide ATP

CKB CKM

1.64e-045932CID000193883
Drugaldimine

AP1AR LNX2 ACACA PHGDH

1.64e-0467934CID000123139
DrugDipyrone [5907-38-0]; Up 200; 12uM; PC3; HT_HG-U133A

GALC MRM1 GRB7 HSD3B1 LTB4R UTY

1.68e-041999363754_UP
DrugPbTx-1

SCN3A SCN4A SCN9A

1.80e-0427933CID006437089
DrugAC1L1MOZ

SCN3A SCN4A SCN9A

1.80e-0427933CID000031958
Drugnefopam

SCN3A SCN4A SCN9A

1.80e-0427933CID000004450
DrugTo 2

CKB CKM SGCB ELP1

1.84e-0469934CID000084102
Drugperiodic acid

CKB CKM GALC LPO DHX9 GP5

1.97e-04205936CID000065185
Drugparaben

SCN3A SCN4A SCN9A

2.01e-0428933CID000007175
Drugnicorandil

CKB CKM TNFAIP8L1 MED23

2.06e-0471934CID000047528
Drugimide

SCN3A SCN4A SCN9A OPLAH

2.41e-0474934CID000443040
Drugphosphocyclocreatine

CKB CKM

2.45e-046932CID000124896
DrugCreatine

CKB CKM

2.45e-046932DB00148
DrugCoADP

CKB CKM

2.45e-046932CID000194171
DrugPTMSA

CKB CKM

2.45e-046932CID000006934
Drugdiaminochlorotriazine

UBA1 HSD3B1

2.45e-046932ctd:C526766
Drugfenpropathrin

SCN2A SCN3A

2.45e-046932ctd:C044267
DrugAC1NUQ1J

KDM5D DHX9

2.45e-046932CID005458203
Drughexahydro-4-methyl phthalic anhydride

CKB CKM

2.45e-046932CID000086876
Drugtocainide

SCN3A SCN4A SCN9A

2.47e-0430933CID000038945
Drugoxcarbazepine

SCN4A SCN9A CACNA1H

2.47e-0430933CID000034312
Drugethylmalonic acid

CKB CKM ACADVL

2.47e-0430933CID000011756
DrugM-HN

CKB CKM CACNA1S

2.73e-0431933CID000015450
Drugphenytoin

CACNA1S SCN2A SCN3A SCN4A SCN9A CACNA1H

2.81e-04219936CID000001775
Drugiridium

IGFALS ACACA ENPP3 CDK5RAP2

2.95e-0478934CID000023924
DrugNSC93767

SCN3A SCN4A SCN9A

3.00e-0432933CID000005658
DrugAC1L1BQX

AP1AR ELP1 CHRNE DHX9

3.10e-0479934CID000001565
Drugadenosine 3',5'-cyclic phosphate

CKB CKM CACNA1S GALC ADRA2B CLCN1 ACACA SYNM AVPR1B SGCB TNFAIP8L1 ZFR

3.19e-049079312CID000000274
Druggemcadiol

CKB CKM

3.42e-047932CID000037147
DrugAC1L1YAP

CKB CKM

3.42e-047932CID000063066
DrugIsradipine

CACNA1S CACNA1H

3.42e-047932DB00270
Drugfluorocyclobutane

SCN2A SCN4A

3.42e-047932CID011051569
Drug2-nitrobenzenesulphonyl fluoride

CKB CKM

3.42e-047932CID000097375
Drug1-carboxymethyl-2-iminohexahydropyrimidine

CKB CKM

3.42e-047932CID000193725
Drug5-hydroxypropafenone

SCN3A SCN4A SCN9A

3.60e-0434933CID000107927
Drugtrimetazidine

CKB CKM EMILIN1

3.60e-0434933CID000021109
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN4A SCN9A

6.94e-1110935DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN4A SCN9A

6.94e-1110935DOID:0080422 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN4A SCN9A

2.17e-1012935DOID:0060170 (implicated_via_orthology)
Diseaseanxiety disorder (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN9A

6.48e-0722934DOID:2030 (implicated_via_orthology)
DiseaseGeneralized Epilepsy with Febrile Seizures Plus

SCN1A SCN2A SCN9A

2.51e-069933C3502809
DiseaseInfantile Severe Myoclonic Epilepsy

SCN1A SCN2A SCN9A

8.47e-0613933C0751122
DiseaseHYPOKALEMIC PERIODIC PARALYSIS, TYPE 1

CACNA1S SCN4A

9.83e-062932170400
DiseaseHypokalemic periodic paralysis, type 1

CACNA1S SCN4A

9.83e-062932cv:C3714580
DiseaseMyotonia Congenita

CLCN1 SCN4A

9.83e-062932C0027127
DiseaseMyotonia Levior

CLCN1 SCN4A

9.83e-062932C0270959
DiseaseHypokalemic periodic paralysis

CACNA1S SCN4A

9.83e-062932cv:C0238358
DiseaseBecker Generalized Myotonia

CLCN1 SCN4A

9.83e-062932C0751360
DiseaseGeneralized Myotonia of Thomsen

CLCN1 SCN4A

9.83e-062932C2936781
DiseaseEarly Infantile Epileptic Encephalopathy 6

SCN1A SCN9A

9.83e-062932C4551549
Diseaseepilepsy (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN4A SCN9A DHX9

1.33e-05163936DOID:1826 (implicated_via_orthology)
DiseaseHyperkalemic periodic paralysis

CLCN1 SCN4A

2.94e-053932C0238357
DiseaseHypokalemic periodic paralysis type 1

CACNA1S SCN4A

2.94e-053932C3714580
DiseaseHypokalemic periodic paralysis

CACNA1S SCN4A

5.87e-054932C0238358
DiseaseMyotonia

CLCN1 SCN4A

1.46e-046932C0027125
DiseaseEpilepsy, Generalized

SCN1A CACNA1H

1.46e-046932C0014548
DiseaseSeizure, Febrile, Simple

SCN1A SCN2A

2.04e-047932C0149886
DiseaseSeizure, Febrile, Complex

SCN1A SCN2A

2.04e-047932C0751057
DiseaseEarly Childhood Epilepsy, Myoclonic

SCN1A SCN9A

2.72e-048932C0393695
DiseaseIdiopathic Myoclonic Epilepsy

SCN1A SCN9A

2.72e-048932C0338478
DiseaseSymptomatic Myoclonic Epilepsy

SCN1A SCN9A

2.72e-048932C0338479
DiseaseMyoclonic Encephalopathy

SCN1A SCN9A

2.72e-048932C0438414
DiseaseBenign Infantile Myoclonic Epilepsy

SCN1A SCN9A

2.72e-048932C0751120
Diseasehypokalemic periodic paralysis (implicated_via_orthology)

CACNA1S SCN4A

2.72e-048932DOID:14452 (implicated_via_orthology)
DiseaseMyoclonic Absence Epilepsy

SCN1A SCN9A

2.72e-048932C0393703
DiseaseFebrile Convulsions

SCN1A SCN2A

3.49e-049932C0009952
DiseaseMyoclonic Epilepsy

SCN1A SCN9A

3.49e-049932C0014550
DiseaseEpilepsy, Myoclonic, Infantile

SCN1A SCN9A

4.35e-0410932C0917800
DiseaseCongenital myasthenic syndrome

SCN4A CHRNE

4.35e-0410932cv:C0751882
DiseaseMyoclonic Astatic Epilepsy

SCN1A SCN9A

5.31e-0411932C0393702
DiseaseCongenital myopathy (disorder)

CACNA1S SCN4A

6.35e-0412932C0270960
DiseaseMMR-related febrile seizures

SCN1A SCN2A

1.00e-0315932EFO_0006519
Diseaseanemia (implicated_via_orthology)

SLC4A7 SLC4A8

1.00e-0315932DOID:2355 (implicated_via_orthology)
DiseaseMyasthenic Syndromes, Congenital, Slow Channel

SCN4A AGRN

1.15e-0316932C0751885
DiseaseEarly infantile epileptic encephalopathy with suppression bursts

SCN1A SCN2A

1.15e-0316932C0393706
DiseaseCongenital Myasthenic Syndromes, Postsynaptic

SCN4A AGRN

1.30e-0317932C0751883
Diseasemuscular dystrophy (is_implicated_in)

POMT2 SGCB

1.30e-0317932DOID:9884 (is_implicated_in)
DiseaseFebrile seizure (within the age range of 3 months to 6 years)

SCN1A SCN2A

1.45e-0318932HP_0002373
DiseaseCongenital Myasthenic Syndromes, Presynaptic

SCN4A AGRN

1.62e-0319932C0751884
DiseaseMyasthenic Syndromes, Congenital

SCN4A AGRN

2.59e-0324932C0751882
DiseaseLeft Ventricular Hypertrophy

CKB CKM

2.81e-0325932C0149721

Protein segments in the cluster

PeptideGeneStartEntry
NPKQELRGRGRGILI

SMG6

396

Q86US8
KLLGDVRLNILVLGG

ANAPC4

166

Q9UJX5
AGGFLGQRIIRLLVK

HSD3B1

11

P14060
RGLLAGLFQKKLLRG

CIITA

526

P33076
GRSGAARGLLLQKVR

AGRN

371

O00468
RAKVQLGGLLLSLLG

CLDN25

6

C9JDP6
LILTGAGALNKVLGR

ACACA

1846

Q13085
GLRRLFLKDNGLVGI

IGFALS

411

P35858
LATLRGQVLLGRGVG

ADRA2B

336

P18089
GLLRKEAGRLQRVGG

AP1AR

11

Q63HQ0
EGLKRGTLIQGVLRI

DIS3L2

61

Q8IYB7
LLGLLGRGVGKNEEL

CHRNE

11

Q04844
GHALLRAVGQGKLRL

ANKRD34A

6

Q69YU3
ILRKARGNLELRPGG

CDK5RAP2

1866

Q96SN8
AAKARLELLGRQLGA

RAVER2

196

Q9HCJ3
EVLRGLGKLILKRSG

MDN1

3466

Q9NU22
GELGRVQDFLGLKRI

HS3ST3B1

306

Q9Y662
VLKRLRLQKRGTGGV

CKB

311

P12277
ALGLRNRGKGVRAVL

LRR1

16

Q96L50
GLLRSLLERGQQLGV

KDM5D

886

Q9BY66
GRIKRGDVLLNINGI

LNX2

511

Q8N448
RGRVGPLLACLLGKQ

LPO

621

P22079
RNKGLRLAQGAVGLL

FREM1

1511

Q5H8C1
LHQKLAGRGLIKGRD

MED23

356

Q9ULK4
VGLGRTLAGKLVEQR

ELP1

1046

O95163
GELGRVQDFLGLKRI

HS3ST3A1

321

Q9Y663
GLLGLGHLALNRRKV

MROH6

421

A6NGR9
EIQGFLQLRGSGRKL

GRB7

231

Q14451
RGLRTLLAKNNRLGG

LRRC58

91

Q96CX6
GQAAGLGLVGKRLSL

LTB4R

251

Q15722
LGGLLGRQRLLLRMG

PANK2

111

Q9BZ23
ILNRKGGGNLLGIIV

MOGAT2

171

Q3SYC2
LGRGLSGAKVLLLAG

NOTUM

216

Q6P988
HKLRLGFQRLLGLGQ

OR56B4

301

Q8NH76
RKNFLRVGHLVLIGG

PPT2

211

Q9UMR5
LVLIGAQGVGRRSLK

PALS2

341

Q9NZW5
GRAKELLGQGLLLRS

EIF3CL

641

B5ME19
KQIFISGGRLLIRLG

DNAH6

3141

Q9C0G6
RLIGRLGQLGLKEGF

ICE1

2171

Q9Y2F5
LLIQKALVRGGLGTL

CACNA1S

1786

Q13698
SLGLGLGLGLRKLEK

ENPP3

36

O14638
GLLEARGILGLKRNK

CDC6

511

Q99741
DGLLRGLGKLRQVSL

GP5

356

P40197
ELQGLRGVLQGLSGR

EMILIN1

191

Q9Y6C2
LEKLVGGQAGLGRRL

EMILIN1

776

Q9Y6C2
GVLGGKLRQRLGLQL

DDAH2

46

O95865
AGGAKILGVLRVLRL

CACNA1H

1386

O95180
RVNKGGILIRSARGI

GALC

581

P54803
LLALGLRGLQAGARR

DPP7

11

Q9UHL4
VGVLLRKLEAGIRGI

DHX9

491

Q08211
IALSIKLLRLGGIGQ

DHX9

801

Q08211
AGALRGLGQLKELEI

LINGO4

221

Q6UY18
LRQLVKDRLGGRSGG

PDIA6

131

Q15084
GKRALELALLQGLLG

NYNRIN

1266

Q9P2P1
GRTLGLLVKRLEKGG

PARD3

296

Q8TEW0
IGVRLNSLLGRKGSL

MAP3K15

426

Q6ZN16
VIRGLAGALKLDLGL

UTY

916

O14607
QRTGRLFGGLILDIK

SLC4A7

576

Q9Y6M7
NLQIAIGRIKLGIGF

SCN4A

821

P35499
GLSQVLLRGGGQVLL

POMT2

631

Q9UKY4
IGDIINLGLKGREGR

SYNM

726

O15061
ILTRLRLQKRGTGGV

CKM

311

P06732
RLLLQAGKAGLQGKR

MRM1

71

Q6IN84
ALRGKLEGLLSRGIR

OPLAH

171

O14841
PGARGLNLLIRKNGR

OPLAH

1211

O14841
RIGRILRLVKGAKGI

SCN9A

1616

Q15858
GLLKLRGLLGFVGTL

TAP2

51

Q03519
ARIGRILRLIKGAKG

SCN3A

1626

Q9NY46
QRTGRLFGGLVLDIK

SLC4A8

446

Q2Y0W8
GLRGRKGNLAICVII

SGCB

56

Q16585
AARGLGQLGEAVKRL

SSC5D

1531

A1L4H1
LCGGKGLDQLIQRLL

MTRF1

411

O75570
RGKTGLRLRKVDQGL

SDCBP2

116

Q9H190
ARIGRILRLIKGAKG

SCN1A

1641

P35498
LLGEAGKQLRRRAGL

ACADVL

501

P49748
QLIKRRGKLGLVGVN

ACLY

61

P53396
RGKLGLVGVNLTLDG

ACLY

66

P53396
RRKLGEDGIFLVLLG

CLCN1

111

P35523
LRQGRLLGCLKGLAG

WDR74

256

Q6RFH5
GNLAVLLTLGQLGRK

AVPR1B

51

P47901
KLLRGGLAERLNGLQ

SPIDR

256

Q14159
RHKLIKGVERLLGGQ

TNKS

1076

O95271
VRGGVAGQLRLLGTL

NEURL1B

421

A8MQ27
ARIGRILRLIKGAKG

SCN2A

1631

Q99250
RDGSKIRNLLGLALG

RPP25L

31

Q8N5L8
IRNLLGLALGRLEGG

RPP25L

36

Q8N5L8
LGRRLGISRLQGLGE

ZBTB4

166

Q9P1Z0
HKILQGELGGRRALL

SPTBN4

701

Q9H254
LLFKQGRAGLIRGVV

VAT1L

321

Q9HCJ6
GRAGLIRGVVEKLIG

VAT1L

326

Q9HCJ6
RGLGVEIAKNIILGG

UBA1

81

P22314
RLGAGNKIGGRRLIV

EMG1

31

Q92979
NKIGGRRLIVVLEGA

EMG1

36

Q92979
GLLGILVCNLLKRKG

RELT

176

Q969Z4
VGVLAKGLLLRGDRN

ZFR

791

Q96KR1
KRRKGLVPGLVNLGN

USP30

61

Q70CQ3
KTLGILGLGRIGREV

PHGDH

146

O43175
VALKLGLLLRGDQLG

TNFAIP8L1

66

Q8WVP5
GQLGVGLANLLRKRF

TDH

61

Q8IZJ6
IRRGLDRILKNAGVG

KIAA1958

481

Q8N8K9