Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionsodium ion binding

SCN1A SCN2A SCN3A SCN9A

2.52e-06141454GO:0031402
GeneOntologyMolecularFunctionvoltage-gated sodium channel activity

SCN1A SCN2A SCN3A SCN9A

3.52e-05261454GO:0005248
GeneOntologyMolecularFunctionalkali metal ion binding

SCN1A SCN2A SCN3A SCN9A

3.52e-05261454GO:0031420
GeneOntologyCellularComponentvoltage-gated sodium channel complex

SCN1A SCN2A SCN3A SCN9A

4.93e-06171454GO:0001518
GeneOntologyCellularComponentsodium channel complex

SCN1A SCN2A SCN3A SCN9A

4.61e-05291454GO:0034706
GeneOntologyCellularComponentexternal encapsulating structure

NPHS1 CD248 LAMB3 LINGO3 PKHD1L1 LRIG3 CLEC14A VWA5A NCAN ZP4 MMP19 AGRN OTOG IMPG2

2.00e-0465814514GO:0030312
HumanPhenoPhotosensitive myoclonic seizure

SCN1A SCN2A SCN9A

3.50e-058453HP:0001327
HumanPhenoCyanotic episode

SCN1A SCN2A SCN9A

3.50e-058453HP:0200048
DomainNa_trans_cytopl

SCN1A SCN2A SCN3A SCN9A

4.48e-0861404PF11933
DomainNa_trans_cytopl

SCN1A SCN2A SCN3A SCN9A

4.48e-0861404IPR024583
DomainNa_channel_asu

SCN1A SCN2A SCN3A SCN9A

6.13e-07101404IPR001696
DomainNa_trans_assoc

SCN1A SCN2A SCN3A SCN9A

6.13e-07101404IPR010526
DomainNa_trans_assoc

SCN1A SCN2A SCN3A SCN9A

6.13e-07101404PF06512
DomainEGF_3

CD248 ADAM12 CELSR1 CELSR3 CLEC14A NCAN LRP4 ASTN2 AGRN OTOG IMPG2

1.62e-0623514011PS50026
DomainEGF_1

CD248 LAMB3 ADAM12 CELSR1 CELSR3 CLEC14A NCAN LRP4 ASTN2 AGRN IMPG2

3.56e-0625514011PS00022
DomainEGF_2

CD248 LAMB3 ADAM12 CELSR1 CELSR3 CLEC14A NCAN LRP4 ASTN2 AGRN IMPG2

5.14e-0626514011PS01186
DomainEGF-like_dom

CD248 ADAM12 CELSR1 CELSR3 CLEC14A NCAN LRP4 AGRN OTOG IMPG2

1.86e-0524914010IPR000742
DomainEGF-like_CS

CD248 LAMB3 ADAM12 CELSR1 CELSR3 CLEC14A NCAN LRP4 AGRN IMPG2

2.79e-0526114010IPR013032
DomainIQ

ADGB SCN1A SCN2A SCN3A SCN9A MYO18B

3.26e-05811406SM00015
DomainHRM

ADGRB3 CELSR1 CELSR3 ADGRA3

5.38e-05281404PF02793
DomainIQ_motif_EF-hand-BS

ADGB SCN1A SCN2A SCN3A SCN9A MYO18B

5.92e-05901406IPR000048
DomainGAIN_dom_N

ADGRB3 CELSR1 CELSR3

6.51e-05111403IPR032471
DomainGAIN

ADGRB3 CELSR1 CELSR3

6.51e-05111403PF16489
DomainIQ

ADGB SCN1A SCN2A SCN3A SCN9A MYO18B

7.11e-05931406PS50096
DomainEGF_LAM_2

LAMB3 CELSR1 CELSR3 AGRN

7.12e-05301404PS50027
DomainEGF_LAM_1

LAMB3 CELSR1 CELSR3 AGRN

7.12e-05301404PS01248
DomainIg_I-set

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 ADGRA3

9.41e-051901408IPR013098
DomainI-set

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 ADGRA3

9.41e-051901408PF07679
DomainGPS

ADGRB3 CELSR1 CELSR3 ADGRA3

1.18e-04341404SM00303
DomainEGF_Lam

LAMB3 CELSR1 CELSR3 AGRN

1.32e-04351404SM00180
DomainGPS

ADGRB3 CELSR1 CELSR3 ADGRA3

1.32e-04351404PF01825
DomainLaminin_EGF

LAMB3 CELSR1 CELSR3 AGRN

1.32e-04351404PF00053
DomainSEA

MUC16 AGRN IMPG2

1.41e-04141403SM00200
DomainEGF-type_Asp/Asn_hydroxyl_site

CD248 CELSR1 CELSR3 CLEC14A NCAN LRP4

1.47e-041061406IPR000152
DomainGPS

ADGRB3 CELSR1 CELSR3 ADGRA3

1.48e-04361404PS50221
DomainGPS

ADGRB3 CELSR1 CELSR3 ADGRA3

1.65e-04371404IPR000203
DomainGYF

GIGYF1 GIGYF2

1.67e-0431402PS50829
DomainGYF

GIGYF1 GIGYF2

1.67e-0431402SM00444
DomainGYF

GIGYF1 GIGYF2

1.67e-0431402PF02213
Domain-

GIGYF1 GIGYF2

1.67e-04314023.30.1490.40
Domain-

MUC16 AGRN IMPG2

1.76e-041514033.30.70.960
DomainLaminin_EGF

LAMB3 CELSR1 CELSR3 AGRN

1.83e-04381404IPR002049
DomainGPCR_2_extracellular_dom

ADGRB3 CELSR1 CELSR3 ADGRA3

2.24e-04401404IPR001879
DomainG_PROTEIN_RECEP_F2_1

ADGRB3 CELSR1 CELSR3 ADGRA3

2.24e-04401404PS00649
DomainG_PROTEIN_RECEP_F2_3

ADGRB3 CELSR1 CELSR3 ADGRA3

2.24e-04401404PS50227
DomainEGF_CA

CD248 CELSR1 CELSR3 NCAN LRP4 AGRN

3.16e-041221406SM00179
DomainP5-ATPase

ATP13A4 ATP13A5

3.31e-0441402PF12409
DomainGYF

GIGYF1 GIGYF2

3.31e-0441402IPR003169
DomainEGF-like_Ca-bd_dom

CD248 CELSR1 CELSR3 NCAN LRP4 AGRN

3.45e-041241406IPR001881
DomainEGF

CD248 CELSR1 CELSR3 NCAN LRP4 AGRN

3.76e-041261406PF00008
DomainEGF

CD248 CELSR1 CELSR3 CLEC14A NCAN BRINP2 LRP4 AGRN

4.01e-042351408SM00181
DomainIGc2

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 IL1R2

4.01e-042351408SM00408
DomainIg_sub2

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 IL1R2

4.01e-042351408IPR003598
Domain7tm_2

ADGRB3 CELSR1 CELSR3 ADGRA3

5.33e-04501404PF00002
DomainG_PROTEIN_RECEP_F2_2

ADGRB3 CELSR1 CELSR3 ADGRA3

5.33e-04501404PS00650
DomainGroucho_enhance

TLE2 TLE4

5.50e-0451402IPR009146
DomainTLE_N

TLE2 TLE4

5.50e-0451402PF03920
DomainP-type_TPase_V

ATP13A4 ATP13A5

5.50e-0451402IPR006544
DomainGroucho/TLE_N

TLE2 TLE4

5.50e-0451402IPR005617
DomainTet-R_TetA/multi-R_MdtG

MFSD14A MFSD14B

5.50e-0451402IPR001958
DomainSEA

MUC16 AGRN IMPG2

5.72e-04221403PF01390
DomainSEA

MUC16 AGRN IMPG2

6.54e-04231403PS50024
DomainSEA_dom

MUC16 AGRN IMPG2

6.54e-04231403IPR000082
DomainHormR

ADGRB3 CELSR1 CELSR3

8.40e-04251403SM00008
DomainChannel_four-helix_dom

SCN1A SCN2A SCN3A SCN9A

8.78e-04571404IPR027359
Domain-

SCN1A SCN2A SCN3A SCN9A

8.78e-045714041.20.120.350
DomainASX_HYDROXYL

CELSR1 CELSR3 CLEC14A NCAN LRP4

9.37e-041001405PS00010
DomainGPCR_2_secretin-like

ADGRB3 CELSR1 CELSR3 ADGRA3

1.07e-03601404IPR000832
DomainGPCR_2-like

ADGRB3 CELSR1 CELSR3 ADGRA3

1.07e-03601404IPR017981
DomainG_PROTEIN_RECEP_F2_4

ADGRB3 CELSR1 CELSR3 ADGRA3

1.13e-03611404PS50261
DomainIG

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 IL1R2 NCAN ADGRA3

1.29e-0342114010SM00409
DomainIg_sub

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 IL1R2 NCAN ADGRA3

1.29e-0342114010IPR003599
Domain-

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 PKHD1L1 LRIG3 IL1R2 NCAN ASTN2 ADGRA3 SECTM1

1.46e-03663140132.60.40.10
DomainWD40_repeat_CS

TEP1 SEC31B AAAS GTF3C2 TLE2 TLE4

1.49e-031641406IPR019775
DomainWD40_repeat_dom

TEP1 SEC31B AAAS GTF3C2 ARHGEF10 TLE2 NBEAL2 TLE4

1.82e-032971408IPR017986
DomainIQ

SCN1A SCN3A SCN9A MYO18B

1.99e-03711404PF00612
DomainIg-like_fold

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 PKHD1L1 LRIG3 IL1R2 NCAN ASTN2 ADGRA3 SECTM1

2.53e-0370614013IPR013783
DomainFN3

NPHS1 SDK2 DSCAM SPEG IGDCC3 ASTN2

2.73e-031851406SM00060
DomainLAM_G_DOMAIN

CELSR1 CELSR3 AGRN

2.87e-03381403PS50025
DomainMACPF

BRINP2 ASTN2

2.94e-03111402PF01823
Domainig

NPHS1 SDK2 DSCAM IGDCC3 IL1R2 ADGRA3

3.12e-031901406PF00047
DomainImmunoglobulin

NPHS1 SDK2 DSCAM IGDCC3 IL1R2 ADGRA3

3.12e-031901406IPR013151
DomainWD40

TEP1 SEC31B AAAS GTF3C2 TLE2 NBEAL2 TLE4

3.42e-032591407PF00400
DomainMACPF

BRINP2 ASTN2

3.51e-03121402IPR020864
DomainMACPF

BRINP2 ASTN2

3.51e-03121402SM00457
Domain-

TEP1 SEC31B AAAS GTF3C2 ARHGEF10 TLE2 NBEAL2 TLE4

3.67e-0333314082.130.10.10
DomainWD40/YVTN_repeat-like_dom

TEP1 SEC31B AAAS GTF3C2 ARHGEF10 TLE2 NBEAL2 TLE4

3.80e-033351408IPR015943
DomainFN3

NPHS1 SDK2 DSCAM SPEG IGDCC3 ASTN2

3.91e-031991406PS50853
DomainIG_LIKE

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 IL1R2 NCAN ADGRA3

3.94e-0349114010PS50835
DomainWD40

TEP1 SEC31B AAAS GTF3C2 TLE2 NBEAL2 TLE4

4.13e-032681407SM00320
DomainLamG

CELSR1 CELSR3 AGRN

4.36e-03441403SM00282
DomainWD40_repeat

TEP1 SEC31B AAAS GTF3C2 TLE2 NBEAL2 TLE4

4.47e-032721407IPR001680
DomainIg-like_dom

NPHS1 SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 IL1R2 NCAN ADGRA3

4.66e-0350314010IPR007110
DomainCys-rich_flank_reg_C

LINGO3 LRG1 LRIG3 ADGRA3

4.70e-03901404IPR000483
DomainLRRCT

LINGO3 LRG1 LRIG3 ADGRA3

4.70e-03901404SM00082
DomainDynein_HC_stalk

DNHD1 DYNC1H1

4.79e-03141402IPR024743
DomainDynein_heavy_dom-2

DNHD1 DYNC1H1

4.79e-03141402IPR013602
DomainDHC_N2

DNHD1 DYNC1H1

4.79e-03141402PF08393
DomainMT

DNHD1 DYNC1H1

4.79e-03141402PF12777
DomainFN3_dom

NPHS1 SDK2 DSCAM SPEG IGDCC3 ASTN2

4.96e-032091406IPR003961
DomainWD_REPEATS_1

TEP1 SEC31B AAAS GTF3C2 TLE2 NBEAL2 TLE4

5.03e-032781407PS00678
DomainWD_REPEATS_2

TEP1 SEC31B AAAS GTF3C2 TLE2 NBEAL2 TLE4

5.13e-032791407PS50082
DomainWD_REPEATS_REGION

TEP1 SEC31B AAAS GTF3C2 TLE2 NBEAL2 TLE4

5.13e-032791407PS50294
DomainDHC_fam

DNHD1 DYNC1H1

5.49e-03151402IPR026983
DomainDynein_heavy

DNHD1 DYNC1H1

5.49e-03151402PF03028
DomainDynein_heavy_dom

DNHD1 DYNC1H1

5.49e-03151402IPR004273
DomainBAR_dom

ARHGEF38 SNX30

6.25e-03161402IPR004148
PathwayREACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS

SCN1A SCN2A SCN3A SCN9A

7.00e-05311024M877
PathwayREACTOME_PHASE_0_RAPID_DEPOLARISATION

SCN1A SCN2A SCN3A SCN9A

7.95e-05321024M27455
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

1.49e-09514648812438
Pubmed

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

SCN1A SCN2A SCN3A SCN9A

4.44e-096146423652591
Pubmed

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

SCN1A SCN2A SCN3A SCN9A

3.69e-089146416382098
Pubmed

A dual-activity topoisomerase complex regulates mRNA translation and turnover.

EPPK1 MFHAS1 SPEG LAMB3 TEP1 KIFC2 SNX30 TMEM129 FASN CELSR1 CELSR3 CANT1 NBEAL2 NAV1 LRP4 TANC1 NUP188 AGRN PRRT4 DYNC1H1

4.27e-0811051462035748872
Pubmed

Voltage-gated sodium channels in taste bud cells.

SCN2A SCN3A SCN9A

7.25e-083146319284629
Pubmed

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

SCN1A SCN3A SCN9A

7.25e-083146333895391
Pubmed

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

SCN1A SCN2A SCN3A

7.25e-083146323859570
Pubmed

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

SCN1A SCN2A SCN3A

7.25e-083146312610651
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

7.25e-083146318784617
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

7.25e-083146317544618
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

7.25e-083146314973256
Pubmed

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

SCN1A SCN2A SCN3A SCN9A

2.07e-0713146415123669
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

2.89e-074146317537961
Pubmed

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

SCN1A SCN2A SCN3A

2.89e-074146335801810
Pubmed

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

SCN1A SCN2A SCN3A

2.89e-074146335031483
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

2.89e-074146329578003
Pubmed

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

SCN1A SCN2A SCN3A

2.89e-07414638974318
Pubmed

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

SCN1A SCN2A SCN3A

7.20e-07514631679748
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

7.20e-075146324337656
Pubmed

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1.

LAMB3 MINPP1 ITGA7 ADAM12 PAICS SIAE CELSR1 GLA CELSR3 CANT1 MICAL2 LRP4 TMEM231 TAP1 AGRN PBXIP1 ADGRA3 PPP6R3

3.16e-0612011461835696571
Pubmed

Identifications of novel host cell factors that interact with the receptor-binding domain of the SARS-CoV-2 spike protein.

PDE3B DENND4A LAMB3 FAM91A1 GIGYF1 ANKZF1 WASH6P TUBGCP3 GIGYF2 TANC1 NMT1 AGRN PBXIP1

3.95e-066501461338777146
Pubmed

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

SCN1A SCN2A SCN3A

5.98e-069146315746173
Pubmed

International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors.

ADGRB3 CELSR1 CELSR3 ADGRA3

1.11e-0533146425713288
Pubmed

The PHLPP1 N-Terminal Extension Is a Mitotic Cdk1 Substrate and Controls an Interactome Switch.

NES EPPK1 FAM91A1 FASN GIGYF2 TANC1 CNN2 DYNC1H1

1.36e-05256146833397691
Pubmed

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

SCN1A SCN2A SCN3A

1.55e-0512146330175250
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

1.55e-051214638169823
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

1.75e-052146220346423
Pubmed

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

SCN1A SCN2A

1.75e-052146210827969
Pubmed

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

SCN1A SCN2A

1.75e-052146219694741
Pubmed

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

SCN2A SCN3A

1.75e-052146211245985
Pubmed

Comparative gene mapping of the human and mouse TEP1 genes, which encode one protein component of telomerases.

TEP1 TAP1

1.75e-05214629403057
Pubmed

Differential expression of two sodium channel subtypes in human brain.

SCN1A SCN2A

1.75e-05214621317301
Pubmed

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

SCN2A SCN3A

1.75e-052146223016767
Pubmed

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

SCN2A SCN3A

1.75e-052146227153334
Pubmed

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.

ATP13A4 ATP13A5

1.75e-052146215925480
Pubmed

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

SCN1A SCN3A

1.75e-052146224990319
Pubmed

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

SCN3A SCN9A

1.75e-052146225172946
Pubmed

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

SCN1A SCN2A

1.75e-052146231439038
Pubmed

Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses.

LRP4 AGRN

1.75e-052146222854782
Pubmed

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

SCN1A SCN2A

1.75e-052146215249644
Pubmed

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

SCN1A SCN3A

1.75e-052146227690330
Pubmed

Validation of LRG1 as a potential biomarker for detection of epithelial ovarian cancer by a blinded study.

MUC16 LRG1

1.75e-052146225799488
Pubmed

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

SCN1A SCN3A

1.75e-052146223965409
Pubmed

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

SCN1A SCN2A

1.75e-052146230693367
Pubmed

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

SCN1A SCN2A

1.75e-052146229649454
Pubmed

Genetic Method for Labeling Electrically Coupled Cells: Application to Retina.

SDK2 SLC15A2

1.75e-052146226778956
Pubmed

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

SCN1A SCN2A

1.75e-052146233096315
Pubmed

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

SCN1A SCN2A

1.75e-052146226311622
Pubmed

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

SCN1A SCN2A

1.75e-052146221377452
Pubmed

Confirmation of quantitative trait loci for alcohol preference in mice.

SCN1A SCN2A SCN3A

3.18e-051514639726281
Pubmed

Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders.

GIGYF1 TRIP12 SCN2A DYNC1H1

3.24e-0543146436950384
Pubmed

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

SCN1A SCN2A

5.24e-053146232185219
Pubmed

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

SCN1A SCN2A

5.24e-053146232005694
Pubmed

MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.

LRP4 AGRN

5.24e-053146224244707
Pubmed

Fatty acid synthase downregulation contributes to acute lung injury in murine diet-induced obesity.

LEP FASN

5.24e-053146231287803
Pubmed

Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK).

LRP4 AGRN

5.24e-053146221969364
Pubmed

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

SCN1A SCN3A

5.24e-053146227816501
Pubmed

The flamingo-related mouse Celsr family (Celsr1-3) genes exhibit distinct patterns of expression during embryonic development.

CELSR1 CELSR3

5.24e-053146211677057
Pubmed

Leptin receptor expressing neurons express phosphodiesterase-3B (PDE3B) and leptin induces STAT3 activation in PDE3B neurons in the mouse hypothalamus.

PDE3B LEP

5.24e-053146226297880
Pubmed

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

SCN1A SCN2A

5.24e-053146228784306
Pubmed

Activation of G0/G1 switch gene 2 by endoplasmic reticulum stress enhances hepatic steatosis.

LEP ATF4

5.24e-053146231271806
Pubmed

Hepatic FASN deficiency differentially affects nonalcoholic fatty liver disease and diabetes in mouse obesity models.

LEP FASN

5.24e-053146237681411
Pubmed

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

SCN3A SCN9A

5.24e-053146219699781
Pubmed

The relationship among integrin alpha 7, CD133 and Nestin as well as their correlation with clinicopathological features and prognosis in astrocytoma patients.

NES ITGA7

5.24e-053146235430343
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

5.24e-053146232845893
Pubmed

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

SCN1A SCN2A

5.24e-053146228518218
Pubmed

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

SCN1A SCN2A

5.24e-053146219270815
Pubmed

Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells.

SCN2A SCN3A

5.24e-053146216052353
Pubmed

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

SCN1A SCN2A

5.24e-053146225155934
Pubmed

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

SCN1A SCN2A

5.24e-053146217928448
Pubmed

The role of CA-125, GLS and FASN in predicting cytoreduction for epithelial ovarian cancers.

MUC16 FASN

5.24e-053146232698888
Pubmed

Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.

SPEG FAM91A1 ALS2 LRIG3 TLE4 BRINP2 NAV1 GIGYF2 DYNC1H1

5.94e-05407146912693553
Pubmed

Molecular genetics of successful smoking cessation: convergent genome-wide association study results.

DSCAM ARHGEF38 TACC2 ADAM12 MYO18B

6.97e-05101146518519826
Pubmed

The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4.

EPPK1 IRAK2 TMEM129 FASN ARHGEF10 SLC49A4 NAV1 DYNC1H1

8.53e-05332146837433992
Pubmed

The Xbp1s/GalE axis links ER stress to postprandial hepatic metabolism.

GALE LEP

1.04e-044146223257357
Pubmed

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

SCN1A SCN2A

1.04e-044146226637798
Pubmed

TLE expression correlates with mouse embryonic segmentation, neurogenesis, and epithelial determination.

TLE2 TLE4

1.04e-04414628645603
Pubmed

4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay.

GIGYF1 GIGYF2

1.04e-044146233053355
Pubmed

Hereditary Sensory and Autonomic Neuropathy Type II

SCN9A RETREG1

1.04e-044146221089229
Pubmed

Multimerin-2 is a ligand for group 14 family C-type lectins CLEC14A, CD93 and CD248 spanning the endothelial pericyte interface.

CD248 CLEC14A

1.04e-044146228671670
Pubmed

Dorsal root ganglia isolated from Nf1+/- mice exhibit increased levels of mRNA expression of voltage-dependent sodium channels.

SCN1A SCN9A

1.04e-044146222260870
Pubmed

PARP1-stabilised FOXQ1 promotes ovarian cancer progression by activating the LAMB3/WNT/β-catenin signalling pathway.

FOXQ1 LAMB3

1.04e-044146238297082
Pubmed

Panel of markers can accurately predict endometriosis in a subset of patients.

MUC16 LEP

1.04e-044146217706208
Pubmed

The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.

CELSR1 CELSR3

1.04e-044146237224017
Pubmed

Nestin negatively regulates postsynaptic differentiation of the neuromuscular synapse.

NES AGRN

1.04e-044146221278733
Pubmed

Novel markers in the diagnostics of endometriomas: Urocortin, ghrelin, and leptin or leukocytes, fibrinogen, and CA-125?

MUC16 LEP

1.04e-044146225951715
Pubmed

Nav1.7 as a chondrocyte regulator and therapeutic target for osteoarthritis.

SCN9A NAV1

1.04e-044146238172636
Pubmed

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

SCN1A SCN2A

1.04e-044146221156207
Pubmed

The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.

LRP4 AGRN

1.04e-044146237356721
Pubmed

Sustained ER stress promotes hyperglycemia by increasing glucagon action through the deubiquitinating enzyme USP14.

LEP ATF4

1.04e-044146231594848
Pubmed

Expression of phosphacan and neurocan during early development of mouse retinofugal pathway.

NES NCAN

1.04e-044146215283989
Pubmed

Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.

MAGEL2 WASH6P

1.04e-044146232879135
Pubmed

The steady-state level of CDK4 protein is regulated by antagonistic actions between PAQR4 and SKP2 and involved in tumorigenesis.

PAQR4 FBXO4

1.04e-044146228992327
Pubmed

Developmental expression profiles of Celsr (Flamingo) genes in the mouse.

CELSR1 CELSR3

1.04e-044146211850187
Pubmed

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.

CLN8 ARHGEF10

1.04e-044146214508709
Pubmed

Hepatocyte-secreted DPP4 in obesity promotes adipose inflammation and insulin resistance.

LEP ATF4

1.04e-044146229562231
Pubmed

Human homologs of a Drosophila Enhancer of split gene product define a novel family of nuclear proteins.

TLE2 TLE4

1.74e-04514621303260
Pubmed

Early development of electrical excitability in the mouse enteric nervous system.

SCN3A SCN9A

1.74e-045146222875929
Pubmed

Expression of Epiplakin1 in the developing and adult mouse retina.

NES EPPK1

1.74e-045146220151282
Pubmed

PAQR4 regulates adipocyte function and systemic metabolic health by mediating ceramide levels.

PAQR4 LEP

1.74e-045146238961186
CytobandEnsembl 112 genes in cytogenetic band chr2q24

SCN1A SCN2A SCN3A SCN9A TANC1

5.84e-051271475chr2q24
Cytoband19p13.3

IZUMO4 APBA3 LINGO3 LRG1 TLE2 CNN2

1.22e-04237147619p13.3
CytobandEnsembl 112 genes in cytogenetic band chr19p13

IZUMO4 TMEM221 MUC16 APBA3 LINGO3 FCHO1 LRG1 TLE2 NCAN CNN2

2.64e-0479714710chr19p13
Cytoband2q24

SCN3A SCN9A

5.50e-041114722q24
Cytoband2q12

SLC5A7 IL1R2

6.58e-041214722q12
Cytoband8p23

CLN8 ARHGEF10

9.04e-041414728p23
Cytoband11p15.1

PDE3B MRGPRX3 OTOG

9.63e-0460147311p15.1
Cytoband2q24.3

SCN1A SCN2A

1.19e-031614722q24.3
GeneFamilySodium voltage-gated channel alpha subunits

SCN1A SCN2A SCN3A SCN9A

1.00e-0799841203
GeneFamilyBlood group antigens|CD molecules|I-set domain containing|Immunoglobulin like domain containing

SDK2 DSCAM SPEG IGDCC3 LINGO3 LRIG3 ADGRA3

2.73e-05161987593
GeneFamilyAdhesion G protein-coupled receptors, subfamily C|CELSR cadherins

CELSR1 CELSR3

8.69e-053982913
GeneFamilyAdhesion G protein-coupled receptors, subfamily C|CELSR cadherins

CELSR1 CELSR3

8.69e-0539821189
GeneFamilyParkinson disease associated genes|ATPase orphan transporters

ATP13A4 ATP13A5

2.88e-0459821213
GeneFamilyWD repeat domain containing

TEP1 SEC31B AAAS GTF3C2 TLE2 NBEAL2 TLE4

5.58e-04262987362
GeneFamilyFibronectin type III domain containing

NPHS1 SDK2 DSCAM IGDCC3 ASTN2

1.79e-03160985555
CoexpressionGSE17721_PAM3CSK4_VS_CPG_24H_BMDC_DN

NPHS1 RBM42 SYS1 TRIP12 CLEC14A VWA5A NMT1 AGRN DYNC1H1

2.03e-062001479M3875
ToppCellChildren_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_2-D139|Children_(3_yrs) / Lineage, Cell type, age group and donor

ATP13A4 ARHGEF38 TACC2 SNX30 SIAE FASN SCN1A FAM149A

2.55e-071921478cc9911e182a289779a2612bc213daae5607689e7
ToppCellParenchymal-NucSeq-Epithelial-Epi_alveolar-AT2|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

ARHGEF38 DGKD TACC2 SNX30 SIAE FASN MICAL2 SCN1A

3.23e-0719814782e2a4e1756bba6f4fbe529559a97d2993c890b4b
ToppCell10x5'v1-week_17-19-Hematopoietic-HSC/MPP_and_pro-ELP|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

SDK2 TMEM221 CD248 CLEC14A TLE4 SCN3A MN1

1.59e-061701477a50e558d0b38100ccbdccb90647fe93e85bffd86
ToppCellwk_15-18-Epithelial-Proximal_epithelial-Proximal_secretory_3|wk_15-18 / Celltypes from embryonic and fetal-stage human lung

ATP13A4 MUC16 KIFC2 FER1L6 CELSR1 C1orf226 SLC15A2

2.00e-0617614778d9d0fb46c418b2067be58aec822e8c2b1561461
ToppCellAdult-Epithelial-club_cell-D175|Adult / Lineage, Cell type, age group and donor

FOXQ1 ARHGEF38 PAICS SOCS7 LRIG3 CELSR1 ADGRA3

2.07e-061771477d652b7d84fe6aa38319d8d5adc72c70441bd0088
ToppCellLPS-IL1RA-Epithelial_alveolar-AT_1-Differentiating_AT1|LPS-IL1RA / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

ATP13A4 LAMB3 TACC2 RIPK4 KIFC2 CELSR1 SLC15A2

2.23e-06179147704ce3673e46606f63d9c87bcba3a64c96817d812
ToppCellPCW_13-14-Neuronal-Neuronal_postreplicative-neuro_neuronal_(6)|PCW_13-14 / Celltypes from embryonic and fetal-stage human lung

DSCAM SLC5A7 CELSR3 SCN1A SCN2A SCN3A HRH3

2.23e-061791477af0b54c9ea0b6e4210f22dbb6e88ecd3276a5f86
ToppCellLPS-antiTNF-Epithelial_alveolar-AT_1-Differentiating_AT1|LPS-antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

ATP13A4 LAMB3 RIPK4 KIFC2 CELSR1 SLC15A2 AGRN

2.41e-061811477b45b11428d13950369347e051d4d517efb2bd4fd
ToppCellCOPD-Epithelial-Basal|COPD / Disease state, Lineage and Cell class

ATP13A4 LAMB3 RIPK4 LRIG3 CELSR1 TANC1 ADGRA3

2.59e-0618314770f760e393edc91009bf6c7e02eeac039a1dfb4ed
ToppCellwk_20-22-Mesenchymal-Myofibro_&_SMC-Myofibro_3|wk_20-22 / Celltypes from embryonic and fetal-stage human lung

NES CD248 ADGRB3 MINPP1 TLE2 LRP4 TANC1

2.59e-061831477f4ea7113ce9099222743d9ff02388d3d8a9e987b
ToppCellAdult-Epithelial-alveolar_epithelial_cell_type_2-D175|Adult / Lineage, Cell type, age group and donor

ATP13A4 EPPK1 ARHGEF38 LRIG3 SIAE SCN1A SCN9A

3.09e-061881477ec38def1fdbb34ed9b30244806975bd5a4370164
ToppCellPCW_07-8.5-Epithelial-Epithelial_airway-epi_proximal_progenitor1_(6)|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

ATP13A4 ARHGEF38 LAMB3 RIPK4 CELSR1 SCN9A FAM149A

3.20e-0618914777659c7bbd58ee959a159294fb8d17317bbcc5681
ToppCellsaliva-Severe-critical_progression_d12-22_no-steroids-Myeloid-Monocytic-Nonclassical_Monocyte-Mono_c5-CD16|Severe-critical_progression_d12-22_no-steroids / Compartment, severity and other cell annotations on 10x 3' data (130k)

TMEM221 IGDCC3 ITGA7 FBXO4 OTOG

3.30e-066914751592edde44c3927d6a2350eb00f92c10d3adf692
ToppCellCOVID-19-lung-AT2|COVID-19 / Disease (COVID-19 only), tissue and cell type

ATP13A4 ARHGEF38 TACC2 SNX30 FASN MICAL2 SCN1A

3.32e-06190147727a1a86620fe9b5ee930d388b32352206485e6d0
ToppCellCOVID-19-lung-AT2|lung / Disease (COVID-19 only), tissue and cell type

ATP13A4 ARHGEF38 TACC2 SNX30 FASN MICAL2 SCN1A

3.43e-061911477276455a64c2c3503d5048615762eb2ee37f0ac70
ToppCellEpithelial-alveolar_epithelial_cell_type_2|World / Lineage, Cell type, age group and donor

ATP13A4 ARHGEF38 TACC2 SNX30 FASN MICAL2 SCN1A

3.55e-06192147758c3737be7acce39fd2b91d70d6d7b2bbaa4f710
ToppCellPCW_07-8.5-Epithelial-Epithelial_neuroendo-epi_NE_progenitor_(7)|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

ATP13A4 ARHGEF38 LAMB3 RIPK4 CELSR1 SCN9A FAM149A

3.55e-061921477b99f8236ef4ccdc75c02abea381cae6453205f6f
ToppCellNS-critical-d_07-13-Epithelial-Secretory|d_07-13 / Location, Severity, dps_group, Lineage and Cell class of Upper airway (combined)

GALE FOXQ1 ATP13A5 FER1L6 LRIG3 SLC15A2 TLE2

3.80e-0619414772172d951896265243d14996eacce5aab5e14e26e
ToppCellPCW_07-8.5-Epithelial-Epithelial_airway|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

ATP13A4 ARHGEF38 LAMB3 RIPK4 CELSR1 SCN9A FAM149A

3.80e-061941477f95c8dc242c9aebcadfe61b1ed033349cb7e5a88
ToppCellBronchial-10x5prime-Epithelial-Epi_alveolar-Dividing_AT2|10x5prime / Cell types per location group and 10X technology with lineage, and cell group designations

ATP13A4 LAMB3 TACC2 CELSR3 MICAL2 SCN1A BRINP2

4.21e-06197147749689a03ab31e53386dbe15c77c09ca3a14ebf4e
ToppCellBronchial-NucSeq-Epithelial-Epi_alveolar-AT2|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

ATP13A4 ARHGEF38 TACC2 SNX30 SIAE MICAL2 SCN1A

4.35e-061981477f948391296c261c473d339069a6d0f20ccd6f38f
ToppCellBronchial-NucSeq-Epithelial|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

ATP13A4 ARHGEF38 TACC2 SNX30 CELSR1 MICAL2 SCN1A

4.50e-0619914775f7da3eab58ace6cddb3179a415cd839d5767958
ToppCellParenchymal-NucSeq-Epithelial-Epi_alveolar|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

ATP13A4 ARHGEF38 DGKD TACC2 SNX30 MICAL2 SCN1A

4.50e-0619914778587bd98de7767a575088afbea07a1feb4516b9b
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

DSCAM TACC2 SCN1A SCN2A SCN9A NAV1 LRP4

4.50e-06199147719a97e27a4758e794ce7246d295e112b47931a48
ToppCellTracheal-NucSeq-Epithelial|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

GALE ARHGEF38 MUC16 TACC2 LRIG3 CELSR1 TANC1

4.65e-062001477d3af0a706baf66e3f32e67b17dcfc31e5b32ce0e
ToppCellLPS_IL1RA-Endothelial-Endothelial-Activated_Alv_Cap|LPS_IL1RA / Treatment groups by lineage, cell group, cell type

NES PDE3B ARHGEF10 TLE4 SCN9A TANC1 DYNC1H1

4.65e-06200147779e51afb57ca38aacebd0298e5e727b55c0cfff9
ToppCellLPS_IL1RA_TNF-Endothelial-Endothelial-Alv_Cap|LPS_IL1RA_TNF / Treatment groups by lineage, cell group, cell type

NES PDE3B ARHGEF10 TLE4 SCN9A RETREG1 TANC1

4.65e-062001477b7533c571eeea0cb3678e1a57d3dc036fa8d0f49
ToppCellParenchymal-10x3prime_v2-Stromal-Peri/Epineurial_-NAF_epineurial|10x3prime_v2 / Cell types per location group and 10X technology with lineage, and cell group designations

IZUMO4 FAM91A1 ITGA7 LEP MFSD14A FBXO4 MICAL2

4.65e-062001477be46efc899d06c55ee297bee3126f69bcdb2048b
ToppCellPND07-28-samps-Mesenchymal-Mesothelial|PND07-28-samps / Age Group, Lineage, Cell class and subclass

TMEM221 MUC16 RIPK4 PKHD1L1 SBSN C1orf226

1.33e-051561476574f761962a7dd3308bd41fc529dd3ea1b8625f8
ToppCellPND07-28-samps-Mesenchymal-Mesothelial-Mesothelial|PND07-28-samps / Age Group, Lineage, Cell class and subclass

TMEM221 MUC16 RIPK4 PKHD1L1 SBSN C1orf226

1.33e-051561476605d95a900e1443d3f6aae163ef2e893d3293203
ToppCellmetastatic_Brain-T/NK_cells-Cytotoxic_CD8+_T|T/NK_cells / Location, Cell class and cell subclass

NES ADGRB3 MUC16 CELSR1 SLC15A2 TMEM231

1.59e-051611476e6e294b4ba911c1327664f1a0f93207096c6de03
ToppCell10x5'v1-week_17-19-Hematopoietic-HSC/MPP_and_pro|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

SDK2 TMEM221 CLEC14A TLE4 SCN3A MN1

1.71e-051631476edca1d1a345109dbdeb7ee5464faefab1993fdb2
ToppCell356C-Myeloid-Dendritic-cDC_activated|356C / Donor, Lineage, Cell class and subclass (all cells)

IZUMO4 ADAM12 LEP NAV1 MYO18B CHST7

1.96e-05167147643a9375fdbafd7450c553e4620e21537e08639dd
ToppCelldroplet-Kidney-nan-18m-Epithelial-Pecam____kidney_capillary_endothelial_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

NPHS1 NES CD248 SPEG ADAM12 ASTN2

2.10e-05169147687116c33c5ca8cb1862e103e5607b1df4d264569
ToppCellfacs-Diaphragm-Limb_Muscle-24m|Diaphragm / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

FOXQ1 DSCAM ATP13A5 PKHD1L1 SCN3A SCN9A

2.10e-05169147612bdc709bc000d7f9061ecd9fbd57233eaacb7e2
ToppCellAT1-AT2_cells-Cryobiopsy_01|World / lung cells shred on cell class, cell subclass, sample id

SLC5A7 LAMB3 SLC15A2 SCN3A AGRN PBXIP1

2.32e-0517214760be41df5d35d818deb7316ac21c9366eb4b7bfd1
ToppCellfacs-Pancreas-Exocrine-3m-Epithelial-pancreatic_acinar_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

NPHS1 NES LAMB3 CELSR1 RETREG1 LRP4

2.39e-051731476c62e3ffed55bbb00dcaef6da0aab8446f3f55085
ToppCellfacs-Pancreas-Exocrine-3m-Epithelial-pancreatic_acinar_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

NPHS1 NES LAMB3 CELSR1 RETREG1 LRP4

2.39e-051731476f612d4ea9ab8dcde475f4118bca3e49be786e7fa
ToppCellControl-Epithelial_alveolar-AT_1-Differentiating_AT1|Control / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

ATP13A4 LAMB3 KIFC2 CELSR1 SLC15A2 NBEAL2

2.72e-0517714769af14a056eb6d88c6f11b09f6d4c0d3448d647d5
ToppCellEpithelial-basal_cell|World / Lineage, Cell type, age group and donor

ATP13A4 SLC5A7 LAMB3 RIPK4 LRIG3 CELSR1

2.90e-051791476d9be6647ec7b22747dc00dce4ea307b6af412dfa
ToppCellControl-Epithelial_cells-AT2|Control / group, cell type (main and fine annotations)

ARHGEF38 TACC2 SNX30 FASN MICAL2 SCN1A

2.99e-051801476198b19e7910b4a8cc7e820c525ab357c7f99f578
ToppCellCOPD-Epithelial-Basal|World / Disease state, Lineage and Cell class

ATP13A4 LAMB3 RIPK4 CELSR1 TANC1 ADGRA3

3.08e-0518114766d8a886b4afe729f8a05b9c0f4ea9375de735da4
ToppCellControl-Epithelial_cells-Airway_club|Control / group, cell type (main and fine annotations)

ATP13A4 MFHAS1 ARHGEF38 TACC2 SNX30 FAM149A

3.08e-051811476c755d23dd9aabc717dc73e2b3fa99a1f751e6507
ToppCellChildren_(3_yrs)-Epithelial-club_cell-D139|Children_(3_yrs) / Lineage, Cell type, age group and donor

PAQR4 SOCS7 FER1L6 CELSR1 SLC15A2 FAM149A

3.18e-051821476215c303df42f13597b2c7a95cb157c6bc7aca9a1
ToppCell3'_v3-Lung-Myeloid_Dendritic-DC1|Lung / Manually curated celltypes from each tissue

IRAK2 CLEC14A SCN9A TAP1 CNN2 FAM149A

3.28e-051831476e4cbd39575b5a4612d9934532e3bad63286f8aa5
ToppCelldroplet-Heart-HEART_(LV+RV_ONLY)-30m-Endothelial-endocardial_endothelial_cells|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

FOXQ1 TMEM221 LRG1 SOCS7 CELSR1 ADGRA3

3.28e-051831476b0b5a41f1a40f9c946d0dc8b67eaccdd9f9b73a5
ToppCellfacs-Trachea-18m-Epithelial-airway_epithelial-respiratory_basal_cell-basal_epithelial_cell_of_trachea|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

3.38e-05184147645ff845ceed5960a997545c1009012b65e377d50
ToppCellCOVID-19-Epithelial_cells-AT2|COVID-19 / group, cell type (main and fine annotations)

ATP13A4 ARHGEF38 TACC2 FASN MICAL2 SCN1A

3.38e-051841476369b82f793deab672204558ae4e112cfa5aa9ccc
ToppCellfacs-Trachea-18m-Epithelial-airway_epithelial-respiratory_basal_cell|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

3.38e-0518414762cc2646dee3c6001f7c10b7449c17d1935021958
ToppCelldroplet-Heart-4Chambers-21m-Endothelial-leukocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

DENND4A TCIRG1 ADAM12 PKHD1L1 LRG1 SCN3A

3.48e-051851476bb5a4cf93534b9bcd0923f314c389d571e91e7f8
ToppCellfacs-Trachea-3m-Epithelial-airway_epithelial|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

3.59e-05186147637b93ebd64ebbd08193a746e5bc9b350c2570733
ToppCellLPS-IL1RA-Epithelial_alveolar-AT_1-Differentiating_AT2|LPS-IL1RA / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

ATP13A4 SDK2 LAMB3 TACC2 RIPK4 CELSR1

3.59e-0518614764e94158db52df41d71e67b02b9895a358eebee0f
ToppCellLPS-IL1RA+antiTNF-Epithelial_alveolar-AT_1-Differentiating_AT1|LPS-IL1RA+antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

ATP13A4 LAMB3 RIPK4 KIFC2 CELSR1 SLC15A2

3.59e-0518614763aebe163799109ffc67e4e10ee47c2dd0886a92c
ToppCell3'_v3-bone_marrow-Lymphocytic_T_CD4-Tregs|bone_marrow / Manually curated celltypes from each tissue

ADAM12 RETREG1 PPP1R3F CHST7 PBXIP1 CNN2

3.70e-051871476bda716a64262325e6e68b281caf131f1840fd298
ToppCellAT1_cells-SSc-ILD_01|World / lung cells shred on cell class, cell subclass, sample id

LAMB3 DGKD MICAL2 NBEAL2 BRINP2 AGRN

3.70e-051871476f1dda349335e08dbfc8395d373924037f5ad2fd6
ToppCellfacs-Trachea-nan-3m-Epithelial-basal_epithelial_cell_of_tracheobronchial_tree|Trachea / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

3.70e-051871476fe9fc21192ede2eea61f419d20ccda254569d0a6
ToppCellfacs-Trachea-3m-Epithelial-airway_epithelial-respiratory_basal_cell|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

3.81e-0518814768ffb5394f7b00ea483a5fe4df894d22fda935e5c
ToppCellCOVID-19-Epithelial_cells|COVID-19 / group, cell type (main and fine annotations)

ATP13A4 ARHGEF38 TACC2 FASN CELSR1 MICAL2

3.81e-051881476c9cdee6f8d42ee69f5fb335f25084603c511bd29
ToppCellLPS-IL1RA-Epithelial_alveolar-AT_2-Differentiating_AT2|LPS-IL1RA / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

ATP13A4 LAMB3 SLC13A2 SNX30 CELSR1 MICAL2

3.81e-0518814764bdf8d49af0e9da349b16e3f012e1b0eec04cc4f
ToppCellfacs-Trachea-3m-Epithelial-airway_epithelial-respiratory_basal_cell-basal_epithelial_cell_of_trachea|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

3.81e-051881476137ed9958044fab7a13648affb469585d1c48cf6
ToppCellfacs-Trachea-3m-Epithelial|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

3.93e-051891476f8959cc2c14899c8dfeb1b5e51e187537df2f03e
ToppCellAdult-Epithelial-alveolar_epithelial_cell_type_2-D231|Adult / Lineage, Cell type, age group and donor

ARHGEF38 DGKD TACC2 SNX30 MICAL2 SCN1A

3.93e-051891476dab54a52358f66a8a9460cd6089a06c5fa7e7a5d
ToppCellkidney_cells-Renal_AKI_(acute_kidney_injury)-Endothelial-blood_vessel_endothelial_cell_of_kidney-capillary-immature_endothelial_cell-Peritubular_Capilary_Endothelial_Cell__prolif|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

NES SDK2 CLEC14A PROB1 EXOC3L2 MN1

3.93e-051891476e60a3d6aa84788c29f23439f1c747431ea581bc3
ToppCellCOVID-19-lung-Secretory|lung / Disease (COVID-19 only), tissue and cell type

ATP13A4 ARHGEF38 LAMB3 FER1L6 LRIG3 CELSR1

3.93e-05189147684d48e3ed25bebb8bb8074b3a2c5e2e88cff7f25
ToppCellIPF-Epithelial-Basal|IPF / Disease state, Lineage and Cell class

SDK2 LAMB3 TACC2 RIPK4 LRIG3 TANC1

4.04e-051901476ea19e9ce954f2dfde97388db9695325cd92ab88f
ToppCelldroplet-Trachea-3m-Epithelial|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

4.04e-0519014760114cf48612d78c3ada4d8a05850501fef6892c5
ToppCelldroplet-Trachea-3m-Epithelial-airway_epithelial|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

4.04e-05190147601e7747547ea1f3049a11a1717565ba71dd52bdc
ToppCelldroplet-Trachea-nan-3m-Epithelial|Trachea / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

4.04e-051901476e647f9a2dcf7f2dffef53c45bbe171416518fd59
ToppCellLPS_only-Endothelial-Endothelial-Alv_Cap|LPS_only / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

PDE3B ARHGEF10 CLEC14A TLE4 SCN9A TANC1

4.04e-051901476474cbbab8f3b0a6881fa6c92edb78e43999f9ab0
ToppCelldroplet-Trachea-nan-3m-Epithelial-nan|Trachea / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

4.04e-051901476434de72dde09644efbddcaa643a4a3eaf5f643bf
ToppCellPCW_07-8.5-Epithelial-Epithelial_airway-epi_proximal_secretory_(0)|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

ATP13A4 ARHGEF38 LAMB3 CELSR1 SCN9A FAM149A

4.16e-05191147660ff989fe99d243a3d52955223680cdd1f1917a4
ToppCellChildren_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_2|Children_(3_yrs) / Lineage, Cell type, age group and donor

ATP13A4 ARHGEF38 TACC2 SNX30 FASN SCN1A

4.16e-051911476a0332a4ef629510fb313ec119195c44a3f704a80
ToppCell(1)_Osterolineage_cells-(10)_OLC-1|(1)_Osterolineage_cells / Cell class and subclass of bone marrow stroma cells in homeostatis

ADAM12 TSPAN17 TLE2 LRP4 TANC1 CNN2

4.16e-05191147678ad7c555409ce1391bce406bc0f3ef575329ece
ToppCellT_cells-Central_memory_CD4+_T_cells|T_cells / Immune cells in Kidney/Urine in Lupus Nephritis

PDE3B FCHO1 TLE2 RETREG1 PBXIP1 CNN2

4.16e-05191147625dd538d6a361bd3367c8a1c0dfc9e7003061af3
ToppCellLPS-antiTNF-Endothelial-Endothelial-Activated_Alv_Cap|LPS-antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

PDE3B ARHGEF10 CLEC14A TLE4 SCN9A TANC1

4.29e-051921476c618ede75dce3988c87a5b8f98d8e94e1dd66efd
ToppCellAdult-Epithelial-alveolar_epithelial_cell_type_2-D122|Adult / Lineage, Cell type, age group and donor

ARHGEF38 TACC2 SNX30 SIAE FASN SCN1A

4.29e-05192147606013a07e3a873b1d1c0451643c528593ac32a9c
ToppCellAdult-Epithelial|Adult / Lineage, Cell type, age group and donor

ATP13A4 ARHGEF38 TACC2 CELSR1 MICAL2 TANC1

4.29e-051921476efb962a5fd3b9bdfd8cf8d13c435e29c8271713e
ToppCellCOVID-19-lung-Secretory|COVID-19 / Disease (COVID-19 only), tissue and cell type

ATP13A4 ARHGEF38 LAMB3 LRIG3 CELSR1 SLC15A2

4.29e-05192147659261098ccb52306f837f632ebaea45b90ad30fe
ToppCellIPF-Epithelial-Basal|World / Disease state, Lineage and Cell class

SDK2 LAMB3 RIPK4 LRIG3 CELSR1 TANC1

4.29e-0519214769b91e0b162e6f3ce86dd15cc33c2e745d069581f
ToppCellnucseq-Epithelial-Epithelial_Alveolar-AT2-AT2|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

ARHGEF38 TACC2 SNX30 FASN MICAL2 SCN1A

4.41e-051931476fd4d3c0d7caf8a2fff5b3d901fc28d19a8163cdf
ToppCellAdult-Epithelial-alveolar_epithelial_cell_type_2|Adult / Lineage, Cell type, age group and donor

ARHGEF38 TACC2 SNX30 FASN MICAL2 SCN1A

4.41e-051931476738f4f0a9ddde2432b429ab46838e353b1790589
ToppCellLPS-IL1RA-Endothelial-Endothelial-Activated_Alv_Cap|LPS-IL1RA / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

PDE3B ARHGEF10 CLEC14A TLE4 SCN9A TANC1

4.41e-051931476a3636c35ed25aabe2f1aba016c9fe125327bbfaf
ToppCellnucseq-Epithelial-Epithelial_Alveolar-AT2|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

ARHGEF38 TACC2 SNX30 FASN MICAL2 SCN1A

4.41e-051931476f3cc7cfdbc164a4ed42f87647111522b7d393bcb
ToppCellfacs-Trachea-24m-Epithelial|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 FOXQ1 LAMB3 RIPK4 CELSR1 SLC15A2

4.41e-051931476ec49a83b24371579d4ad46aad91c25115aa226f9
ToppCellAnterior_Cingulate_gyrus_(CgG)-Neuronal-Inh_GABAergic-i_Gaba_3|Anterior_Cingulate_gyrus_(CgG) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

DGKD TLE2 SCN9A ASTN2 TANC1 PRRT4

4.41e-0519314765581a5ebcd21a2a8062ccfb917f088ec67a10a9c
ToppCellfacs-Lung-3m-Epithelial|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

EPPK1 ARHGEF38 LAMB3 FASN CELSR1 SLC15A2

4.41e-051931476db5e43e0b571737e7006365bdf0575340b8b900b
ToppCellChildren_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_2-D032|Children_(3_yrs) / Lineage, Cell type, age group and donor

ARHGEF38 DGKD TACC2 SNX30 FASN MICAL2

4.54e-05194147697534c8bba895a7913665e03ae4e5c4a6ad71daf
ToppCellPCW_07-8.5-Epithelial-Epithelial_neuroendo|PCW_07-8.5 / Celltypes from embryonic and fetal-stage human lung

DSCAM ARHGEF38 LAMB3 CELSR1 SCN3A SCN9A

4.54e-051941476b30379f8dc41c86c746af9930541fbb4819d8fa0
ToppCellTCGA-Thryoid-Primary_Tumor-Thyroid_Papillary_Carcinoma-Classical|TCGA-Thryoid / Sample_Type by Project: Shred V9

GALE FOXQ1 LAMB3 LRG1 LRP4 AGRN

4.54e-051941476b46c54802b8d1e0a0a17f9ed8e82eaf5e7f4849d
ToppCellfacs-Tongue|facs / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

EPPK1 LAMB3 RIPK4 KCNK7 SBSN CELSR1

4.67e-05195147677128895db9221a64a171082d468ebcd6380c936
ToppCell3'-Parenchyma_lung-Epithelial-Alveolar_epithelium-type_II_pneumocyte-AT2-AT2_L.0.1.3.1|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

ARHGEF38 DGKD TACC2 SNX30 FASN SCN1A

4.81e-0519614767e5addaa844e66f8160e05858c341866a80aed23
ToppCellBronchial-NucSeq-Epithelial-Epi_airway_neuro-secretory-Neuroendocrine|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

SLC5A7 CELSR3 SCN2A NCAN SCN3A BRINP2

4.81e-0519614764bdc304c0c9d8bebe1a6a8a27e44acd1e8113725
ToppCellLPS_anti-TNF-Epithelial_alveolar-AT_2-Differentiating_AT2|LPS_anti-TNF / Treatment groups by lineage, cell group, cell type

LAMB3 SLC13A2 LRG1 FASN CELSR1 SCN1A

4.95e-0519714761485933986921ff45669d9b7501c8d17050b3e97
ToppCellSmart-start-Cell-Wel_seq-Non-neoplastic-Myeloid-Mono-Mono_naive-E|Smart-start-Cell-Wel_seq / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

TCIRG1 LRG1 LEP IL1R2 CNN2 SECTM1

4.95e-051971476d2b2eaa6f7294ff56b84a69c8727c7e0f9fd0466
ToppCellLPS_only-Epithelial_alveolar-AT_2|LPS_only / Treatment groups by lineage, cell group, cell type

GALE IZUMO4 LAMB3 SLC13A2 LRG1 FASN

5.09e-051981476d087e738d69ca9853553fde46d4e7a8906439d32
ToppCelldistal-Epithelial-Alveolar_Epithelial_Type_2-2|distal / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)

ARHGEF38 LAMB3 LRG1 SNX30 FASN MICAL2

5.09e-051981476de5748c2b66ecc432974cf095ecd241369579f7c
ToppCellBronchial-NucSeq-Epithelial-Epi_alveolar|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

ATP13A4 ARHGEF38 TACC2 SNX30 MICAL2 SCN1A

5.23e-051991476725610310e5c5fd7120c0be9acb55bf152026ddd
ToppCellmedial-2-Epithelial-Alveolar_Epithelial_Type_1|2 / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)

ATP13A4 LAMB3 TACC2 SLC15A2 MICAL2 AGRN

5.23e-051991476456460c761e26ed4b1d88d9bee4d2a7c9bd9d416
ToppCellParenchymal-NucSeq-Epithelial|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

ATP13A4 ARHGEF38 TACC2 SNX30 CELSR1 MICAL2

5.23e-0519914765cea0d9e261903e0eaad60c28a07dff72ce65027
ToppCellmedial-Epithelial-Alveolar_Epithelial_Type_1-2|medial / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)

ATP13A4 LAMB3 TACC2 SLC15A2 MICAL2 AGRN

5.23e-0519914765263338242f95c04690d0795749ccc20b0d19f7a
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN9A

9.97e-08101404DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN9A

9.97e-08101404DOID:0080422 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN9A

2.33e-07121404DOID:0060170 (implicated_via_orthology)
Diseaseanxiety disorder (implicated_via_orthology)

SCN1A SCN2A SCN3A SCN9A

3.32e-06221404DOID:2030 (implicated_via_orthology)
DiseaseGeneralized Epilepsy with Febrile Seizures Plus

SCN1A SCN2A SCN9A

8.60e-0691403C3502809
Diseaseepilepsy (implicated_via_orthology)

ITGA7 SLC13A2 SCN1A SCN2A SCN3A SCN9A DYNC1H1

1.34e-051631407DOID:1826 (implicated_via_orthology)
DiseaseEarly Infantile Epileptic Encephalopathy 6

SCN1A SCN9A

2.24e-0521402C4551549
DiseaseInfantile Severe Myoclonic Epilepsy

SCN1A SCN2A SCN9A

2.89e-05131403C0751122
DiseaseMyasthenic Syndromes, Congenital, Slow Channel

SLC5A7 LRP4 AGRN

5.60e-05161403C0751885
DiseaseCongenital Myasthenic Syndromes, Postsynaptic

SLC5A7 LRP4 AGRN

6.77e-05171403C0751883
DiseaseNeurodevelopmental Disorders

DSCAM TRIP12 SCN1A SCN2A GIGYF2

8.32e-05931405C1535926
DiseaseCongenital Myasthenic Syndromes, Presynaptic

SLC5A7 LRP4 AGRN

9.58e-05191403C0751884
DiseaseNeuropathy, Hereditary Sensory And Autonomic, Type IIA

SCN9A RETREG1

1.33e-0441402C2752089
DiseaseHereditary sensory and autonomic neuropathy type 2

SCN9A RETREG1

1.33e-0441402cv:C5574675
Diseasejuvenile-onset Parkinson's disease (implicated_via_orthology)

ATP13A4 ATP13A5

1.33e-0441402DOID:0060893 (implicated_via_orthology)
DiseaseNeuropathy, hereditary sensory and autonomic, type 2A

SCN9A RETREG1

1.33e-0441402cv:C2752089
DiseaseKufor-Rakeb syndrome (implicated_via_orthology)

ATP13A4 ATP13A5

1.33e-0441402DOID:0060556 (implicated_via_orthology)
DiseaseNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA

SCN9A RETREG1

1.33e-0441402201300
DiseaseMyasthenic Syndromes, Congenital

SLC5A7 LRP4 AGRN

1.97e-04241403C0751882
DiseaseHereditary Sensory Autonomic Neuropathy, Type 2

SCN9A RETREG1

2.21e-0451402C0020072
DiseaseCerebral Small Vessel Diseases

GLA SCN1A

2.21e-0451402C2733158
Diseasemuscular disease (implicated_via_orthology)

FASN NMT1

2.21e-0451402DOID:0080000 (implicated_via_orthology)
DiseaseSensory Neuropathy, Hereditary

SCN9A RETREG1

3.31e-0461402C0699739
Diseaseamyotrophic lateral sclerosis (implicated_via_orthology)

ATP13A4 ATP13A5 ALS2

3.86e-04301403DOID:332 (implicated_via_orthology)
DiseaseSeizure, Febrile, Simple

SCN1A SCN2A

4.62e-0471402C0149886
DiseaseSeizure, Febrile, Complex

SCN1A SCN2A

4.62e-0471402C0751057
DiseaseHereditary Sensory Autonomic Neuropathy, Type 5

SCN9A RETREG1

4.62e-0471402C0020075
DiseaseEarly Childhood Epilepsy, Myoclonic

SCN1A SCN9A

6.14e-0481402C0393695
DiseaseIdiopathic Myoclonic Epilepsy

SCN1A SCN9A

6.14e-0481402C0338478
DiseaseSymptomatic Myoclonic Epilepsy

SCN1A SCN9A

6.14e-0481402C0338479
DiseaseBenign Infantile Myoclonic Epilepsy

SCN1A SCN9A

6.14e-0481402C0751120
Diseasegranule cell layer dentate gyrus volume

EEF1AKMT2 ASTN2

6.14e-0481402EFO_0009403
DiseaseMyoclonic Encephalopathy

SCN1A SCN9A

6.14e-0481402C0438414
DiseaseMyoclonic Absence Epilepsy

SCN1A SCN9A

6.14e-0481402C0393703
Diseaseresting heart rate

EPPK1 SPEG MICAL2 TANC1 MN1

7.41e-041491405EFO_0004351
DiseaseFebrile Convulsions

SCN1A SCN2A

7.87e-0491402C0009952
DiseaseMyoclonic Epilepsy

SCN1A SCN9A

7.87e-0491402C0014550
DiseaseEpilepsy, Myoclonic, Infantile

SCN1A SCN9A

9.81e-04101402C0917800
DiseaseProteinuria

NPHS1 MUC16 LEP

1.12e-03431403C0033687
Diseasenucleus accumbens volume change measurement

DSCAM MUC16

1.20e-03111402EFO_0021493
DiseaseMyoclonic Astatic Epilepsy

SCN1A SCN9A

1.20e-03111402C0393702
Diseasedevelopmental disorder of mental health (implicated_via_orthology)

GIGYF1 GIGYF2 TANC1

1.64e-03491403DOID:0060037 (implicated_via_orthology)
DiseaseHereditary Motor and Sensory-Neuropathy Type II

SCN9A RETREG1

1.68e-03131402C0270914
Diseaseneuronal ceroid lipofuscinosis (implicated_via_orthology)

ATP13A4 ATP13A5

1.96e-03141402DOID:14503 (implicated_via_orthology)
DiseaseMMR-related febrile seizures

SCN1A SCN2A

2.25e-03151402EFO_0006519
DiseasePolyposis, Adenomatous Intestinal

LRG1 MUTYH

2.57e-03161402C2713442
DiseaseFamilial Intestinal Polyposis

LRG1 MUTYH

2.57e-03161402C2713443
DiseaseEarly infantile epileptic encephalopathy with suppression bursts

SCN1A SCN2A

2.57e-03161402C0393706
DiseaseAdenomatous Polyposis Coli

LRG1 MUTYH

2.90e-03171402C0032580
DiseaseMHPG measurement, 5-HIAA measurement

ADAM12 CLEC14A

2.90e-03171402EFO_0005132, EFO_0005133
DiseaseAdenocarcinoma of lung (disorder)

IRAK2 TTF1 FASN SLC15A2 MYO18B

3.08e-032061405C0152013
Diseaseglucose homeostasis measurement, acute insulin response measurement

SDK2 ASTN2

3.25e-03181402EFO_0006831, EFO_0006896
DiseaseFebrile seizure (within the age range of 3 months to 6 years)

SCN1A SCN2A

3.25e-03181402HP_0002373
Diseasediet measurement, body mass index

ATP13A4 ATP13A5

4.02e-03201402EFO_0004340, EFO_0008111
Diseasetaurocholate measurement

ADAM12 ADGRA3

4.02e-03201402EFO_0010538
Diseaseleft atrial function

SIX5 MYO18B

4.42e-03211402EFO_0004294
DiseaseArthrogryposis

MAGEL2 DYNC1H1

4.42e-03211402C0003886

Protein segments in the cluster

PeptideGeneStartEntry
ESWLSVGPGGEITEL

TTF1

196

Q15361
WLSSPEALDGIVGTL

EXOC3L2

191

Q2M3D2
WSPDGSRLLFTVLGE

AAAS

336

Q9NRG9
SLSQGDPDAAIWLGD

ARHGEF10

1256

O15013
LTEDGLDLWGTVPTA

ATP13A5

491

Q4VNC0
SLASVPEGLWASLGQ

LRG1

271

P02750
LEASGSLESPVLEWS

CCDC187

711

A0A096LP49
LATLWAEPLSEEAGG

ALS2

956

Q96Q42
GEFTVIHALTGWLPE

ADGB

261

Q8N7X0
LGWGLPALVVATSVG

ADGRB3

986

O60242
DKTGTLTRDGLDLWG

ATP13A4

486

Q4VNC1
LISSIDPGAFWGLSS

ADGRA3

116

Q8IWK6
DPLGSTSRWLVDTGN

ARHGEF38

616

Q9NXL2
AGSSEWLAVDGLVSP

ATF4

56

P18848
DSLVGAGPASRLLWI

CD248

71

Q9HCU0
PFSDWGRLEAAILSG

FBXO4

16

Q9UKT5
SPLGATQLDTDGALW

AGRN

2001

O00468
GVALVESGWGSLLPT

APBA3

406

O96018
SVGSGDLWIPVKSFD

ADAM12

46

O43184
LVSWDIPGARALDNG

GLA

21

P06280
SLQDTLIWSFAGPIG

CELSR1

2606

Q9NYQ6
TGKASELERLALWPG

DNHD1

3946

Q96M86
STLLESTLEGAPEWA

C3orf36

61

Q3SXR2
TLSRVLWLSGLSEPG

CIAO2A

11

Q9H5X1
STLPALRESDIGWSG

ASTN2

71

O75129
PATLQGATDSLGLEW

DENND4A

1611

Q7Z401
RTAAGSSWEDPSLLE

RBM42

361

Q9BTD8
ALTGEGLPEALQSLW

ARL11

156

Q969Q4
LTWRLPDVSEAGGSG

FCHO1

816

O14526
IAKTLASEWLGSPGT

MUC16

381

Q8WXI7
STPGSAVQWAKDGLL

NPHS1

56

O60500
TLRAGESALELWGGP

DOK2

171

O60496
ASARLTVLWAEGLPG

IGDCC3

411

Q8IVU1
ALSAWEGPSTSRALG

MAGEL2

966

Q9UJ55
EWLRALSGGGSVASP

GIGYF1

11

O75420
AGWRALVEFLTPLGS

GLTPD2

106

A6NH11
TLPQGFTWDALDLGD

NMT1

151

P30419
ILWLSGAELGTLPAG

MFHAS1

231

Q9Y4C4
RETLLPWSGLSEGTG

IRAK2

506

O43187
RAAGAVGTLLSWPSS

FAM149A

86

A5PLN7
TAPSLDDDGWATVGV

LRIG3

796

Q6UXM1
DGVLSEWSGRSPSSL

FAM91A1

816

Q658Y4
LGNSSEGRTWDLPSA

KCNK7

81

Q9Y2U2
EGSKAVPWVILSDGD

CANT1

191

Q8WVQ1
VSALWEGLPGNLDAA

MMP19

326

Q99542
ALLLGAEPESWAAGA

PDE3B

91

Q13370
SVPWDDSLRGAVAGA

NES

1466

P48681
WASGLETLDSLGGVL

LEP

121

P41159
NWPLLEEVAAGSLRG

LINGO3

231

P0C6S8
LEVSPGDTGWDVFSL

TUBGCP3

626

Q96CW5
GWLPQETLELSGSRL

MRGPRX3

306

Q96LB0
FLSAPLIGALSDVWG

MFSD14A

86

Q96MC6
LSGVAGWRALTAPST

PAQR4

156

Q8N4S7
ELALLSTGVFIGWTP

OR5V1

196

Q9UGF6
PSLAQEELGWTAALG

GALE

311

Q14376
GPEWLRALSSGGSIT

GIGYF2

11

Q6Y7W6
GPSWAKALEEAGTIL

ANKZF1

281

Q9H8Y5
LAGPESLPSWALSDT

ENTR1

221

Q96C92
LSPISLAESWEDGSP

C1orf226

236

A1L170
FAGWSGVLDLILTPA

SLC49A4

296

Q96SL1
QAGLELLGSSDSPTW

EEF1AKMT2

261

Q5JPI9
ILSWEYLSGGSSIPE

HRH3

171

Q9Y5N1
SSLGAPVHLWGTEEV

DGKD

1136

Q16760
GTLDPNTREWTDGLF

DYNC1H1

2266

Q14204
AALGVTWGLDASSPL

HCFC1R1

21

Q9NWW0
TASLWSGPGLEDRGL

LAMB3

606

Q13751
ADLNSDGWPDLIVGA

ITGA7

371

Q13683
LLWAGSALLAPETGD

CELSR3

2261

Q9NYQ7
GPLVVLLDVGASAWA

GYS1

111

P13807
DAIPGKWTSQDSLLG

FASN

1586

P49327
LAKGSERSGLSEWLG

SLC13A2

431

Q13183
ERSGLSEWLGNKLTP

SLC13A2

436

Q13183
TPILGAAIADSWLGK

SLC15A2

96

Q16348
RSVLLSWEPGSDGLS

SDK2

1416

Q58EX2
LGALSGWAASDDPIE

SBSN

16

Q6UWP8
IPVSGALLTDWSDDT

IZUMO4

46

Q1ZYL8
GALSIWPLTQDLDSG

PPP4R1L

286

Q9P1A2
LWTELTGLAASSEPE

KIFC2

51

Q96AC6
SAPLIGALSDVWGRK

MFSD14C

96

Q5VZR4
SAPLIGALSDVWGRK

MFSD14B

96

Q5SR56
LRDTAPGTTLQWGAA

FOXQ1

286

Q9C009
RSWTGQELSPLAGED

MICAL2

1401

O94851
PTAVTLGTGAAWLGV

P2RX6

336

O15547
GTTSLFLPGASWIAD

OTOG

2771

Q6ZRI0
TSPSWGKGAELLLGD

MN1

1006

Q10571
GGWGLPSVDLDSLAV

MTX1

161

Q13505
ELTWSGSPRAGQLDS

NAV1

921

Q8NEY1
TLSWLPGDNGGSSIR

DSCAM

1396

O60469
NKWALLTDPGDIRTG

FER1L6

181

Q2WGJ9
IPAILIGAIGASTDW

SLC5A7

286

Q9GZV3
GLWLALVDGLVRSSP

SYS1

31

Q8N2H4
AGRAAAAVTWLLGEP

RETREG1

61

Q9H6L5
TRWGSPTSLEGELGA

NBEAL2

791

Q6ZNJ1
LEVLAGSPGVESFWE

NCAN

971

O14594
SLQAVPGAKDGTSLW

EPPK1

1131

P58107
TSAGWDGLLAPILNS

SCN9A

1696

Q15858
AVPVWSAGLELSAGT

SIX5

661

Q8N196
AGEVTDLLPGLAWSS

SMIM28

96

A0A1B0GU29
IGLIASSWGGTPIEA

SIAE

211

Q9HAT2
TLWGETALTAAAGRG

TANC1

1076

Q9C0D5
ALFRELISWGAPGSA

TAP1

111

Q03518
LISWGAPGSADSTRL

TAP1

116

Q03518
NSGLLAGLWEFPSVT

MUTYH

391

Q9UIF7
LVGSISEPGLGLLSW

POLR3H

186

Q9Y535
TTSAGWDGLLAPILN

SCN3A

1706

Q9NY46
VATWLKSDVGLGESP

SEC31B

496

Q9NQW1
GRELWSESPLGDLVS

IMPG2

446

Q9BZV3
AGERSPSLEAPSLWE

PROB1

466

E7EW31
GTPWALALLRTFDAG

RIPK4

6

P57078
GALWLLPALQEDSGT

IL1R2

91

P27930
TTSAGWDGLLAPILN

SCN1A

1721

P35498
GLPGWVLAVSATAAA

BRINP2

26

Q9C0B6
SALGKSPWLAGNELT

AIMP2

261

Q13155
QSTAAGLWALLGDPV

CLN8

76

Q9UBY8
PGLQRSLGVWSLEAA

CHST7

46

Q9NS84
LSSDPGGLESDTLQW

CLEC14A

116

Q86T13
TWIEGLTGLSIGPDF

CNN2

36

Q99439
DVWSSLRLPSGLGCS

PAICS

361

P22234
NISALTDLGGLDPVW

TSPAN17

51

Q96FV3
GLSRASAELWTPDSE

SECTM1

201

Q8WVN6
AWLSPKVLVSGAEDG

TEP1

1976

Q99973
STGSRDLGAALADWP

MINPP1

121

Q9UNW1
WVLAGSESLPVETLG

PBXIP1

11

Q96AQ6
EPIGSATDIWGAGVL

SPEG

3136

Q15772
GPVYSTWSALEGELA

SNX30

281

Q5VWJ9
LKPLLEAGTSGTWGS

UBA7

556

P41226
TAVIGLPSGLESWSF

PPM1A

41

P35813
GGEASTLSIWDLAAP

TLE4

551

Q04727
GERVSLLSPGWSALA

SPANXA2-OT1

101

Q8N9U9
TTSAGWDGLLAPILN

SCN2A

1711

Q99250
WGTEPTSGLGIILDS

NUP188

421

Q5SRE5
SGLRTDPLWELLVGS

PRRT4

91

C9JH25
DPLWELLVGSSGNSL

PRRT4

96

C9JH25
PAELVDSSGWATILA

VWA5A

716

O00534
EVTSEWAGSLDPISG

PPP1R3F

676

Q6ZSY5
ANSEPWTLDTLGGER

TACC2

1646

O95359
WPDSGSIAGGTLLTL

PKHD1L1

1161

Q86WI1
LERTWGPAAGLEAQL

SOCS7

46

O14512
PSRWGLEDEETSSGL

MYO18B

886

Q8IUG5
ALLGPESDGFLAWST

TMEM231

71

Q9H6L2
ATAPAALEGGWESSL

TMEM221

236

A6NGB7
LSGSDWLGTIAAGDI

GTF3C2

711

Q8WUA4
TPAVTLLLGDHGWVE

TRMT12

186

Q53H54
LLSGWLGSEDAAFVP

TMEM129

36

A0AVI4
STDDESNPLGRAGIW

TRIP12

1376

Q14669
GGEASTLSIWDLAAP

TLE2

521

Q04725
GAPLDSVGSDVWSTE

PPP6R3

696

Q5H9R7
PLTTDWRILSGKGSG

nan

21

Q6ZTI0
EVVDPSGGWATLLES

WASH6P

336

Q9NQA3
PVDSKVLWVAGLSGT

ZP4

501

Q12836
AGLLDLPDASVNGWS

TCIRG1

676

Q13488
VSTGLESPGGLAVDW

LRP4

506

O75096
VDTSLESPAGLAIDW

LRP4

811

O75096