Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	inositol 1,4,5-trisphosphate-gated calcium channel activity	ITPR2 ITPR3	1.49e-05	3	45	2	GO:0005220
GeneOntologyMolecularFunction	inositol 1,4,5 trisphosphate binding	ITPR2 ITPR3	4.44e-04	14	45	2	GO:0070679
GeneOntologyMolecularFunction	sodium ion binding	SCN1A SCN2A	4.44e-04	14	45	2	GO:0031402
GeneOntologyMolecularFunction	voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	SCN1A SCN2A	6.61e-04	17	45	2	GO:0099508
GeneOntologyMolecularFunction	intracellularly gated calcium channel activity	ITPR2 ITPR3	7.43e-04	18	45	2	GO:0015278
GeneOntologyMolecularFunction	gated channel activity	GRID2 SCN1A SCN2A ITPR2 ITPR3	8.97e-04	334	45	5	GO:0022836
GeneOntologyMolecularFunction	scaffold protein binding	GRID2 KIF1B ITPR2	1.20e-03	93	45	3	GO:0097110
GeneOntologyMolecularFunction	voltage-gated sodium channel activity	SCN1A SCN2A	1.56e-03	26	45	2	GO:0005248
GeneOntologyMolecularFunction	phospholipid transfer activity	GLTP TNFAIP8L3	1.56e-03	26	45	2	GO:0120014
GeneOntologyMolecularFunction	alkali metal ion binding	SCN1A SCN2A	1.56e-03	26	45	2	GO:0031420
GeneOntologyMolecularFunction	lipase activator activity	ABHD5 BTK	1.68e-03	27	45	2	GO:0060229
GeneOntologyMolecularFunction	ligand-gated calcium channel activity	ITPR2 ITPR3	2.22e-03	31	45	2	GO:0099604
GeneOntologyMolecularFunction	intracellularly ligand-gated monoatomic ion channel activity	ITPR2 ITPR3	2.51e-03	33	45	2	GO:0005217
GeneOntologyCellularComponent	platelet dense tubular network membrane	ITPR2 ITPR3	1.62e-04	9	45	2	GO:0031095
GeneOntologyCellularComponent	platelet dense tubular network	ITPR2 ITPR3	2.46e-04	11	45	2	GO:0031094
GeneOntologyCellularComponent	presynapse	IQSEC1 ATR STX1B SCN1A ITSN1 SCN2A KIF1B ITPR3	5.39e-04	886	45	8	GO:0098793
GeneOntologyCellularComponent	voltage-gated sodium channel complex	SCN1A SCN2A	6.04e-04	17	45	2	GO:0001518
GeneOntologyCellularComponent	node of Ranvier	SCN1A SCN2A	8.40e-04	20	45	2	GO:0033268
GeneOntologyCellularComponent	nuclear envelope	ATR NXT1 ITSN1 NUP205 ITPR3 CEMIP	1.21e-03	560	45	6	GO:0005635
GeneOntologyCellularComponent	axon initial segment	SCN1A SCN2A	1.77e-03	29	45	2	GO:0043194
GeneOntologyCellularComponent	sodium channel complex	SCN1A SCN2A	1.77e-03	29	45	2	GO:0034706
HumanPheno	Non-convulsive status epilepticus without coma	ODC1 STX1B SCN1A SCN2A	1.46e-06	20	23	4	HP:0032671
HumanPheno	Status epilepticus without prominent motor symptoms	ODC1 STX1B SCN1A SCN2A	5.18e-06	27	23	4	HP:0031475
HumanPheno	Obsessive-compulsive trait	FMO3 STX1B SCN1A SCN2A	1.19e-05	33	23	4	HP:0008770
HumanPheno	Generalized cerebral atrophy/hypoplasia	STX1B SCN1A SCN2A	2.23e-05	13	23	3	HP:0007058
HumanPheno	Atypical absence status epilepticus	STX1B SCN1A SCN2A	5.25e-05	17	23	3	HP:0011151
HumanPheno	Generalized non-convulsive status epilepticus without coma	STX1B SCN1A SCN2A	6.28e-05	18	23	3	HP:0032860
HumanPheno	Talipes valgus	STX1B SCN1A SCN2A	1.01e-04	21	23	3	HP:0004684
HumanPheno	Decreased level of 1,5 anhydroglucitol in serum	PTPN22 ITPR3	1.16e-04	4	23	2	HP:0410050
HumanPheno	Tibial torsion	STX1B SCN1A SCN2A	1.34e-04	23	23	3	HP:0100694
HumanPheno	Limited knee extension	STX1B SCN1A SCN2A	2.19e-04	27	23	3	HP:0003066
MousePheno	abnormal GABA-mediated receptor currents	GRID2 STX1B SCN1A	1.47e-05	18	38	3	MP:0004008
MousePheno	abnormal locomotor coordination	BRINP2 TTL GRID2 HMOX2 SUCO STX1B SCN1A ITSN1 NLK SLC4A2	1.68e-05	726	38	10	MP:0003312
MousePheno	abnormal discrimination learning	GRID2 SCN1A ITPR3	6.45e-05	29	38	3	MP:0002802
MousePheno	ataxia	TTL GRID2 STX1B SCN1A NLK SLC4A2	7.43e-05	266	38	6	MP:0001393
MousePheno	hypoxia	GRID2 HMOX2 SCN2A	8.71e-05	32	38	3	MP:0005039
MousePheno	abnormal brain white matter morphology	TTL ATR ITSN1 KIF1B ITPR3	2.24e-04	206	38	5	MP:0008026
Domain	InsP3_rcpt-bd	ITPR2 ITPR3	1.62e-05	3	44	2	IPR000493
Domain	RIH_assoc	ITPR2 ITPR3	8.09e-05	6	44	2	PF08454
Domain	RIH_assoc-dom	ITPR2 ITPR3	8.09e-05	6	44	2	IPR013662
Domain	RIH_dom	ITPR2 ITPR3	8.09e-05	6	44	2	IPR000699
Domain	Na_trans_cytopl	SCN1A SCN2A	8.09e-05	6	44	2	PF11933
Domain	Ins145_P3_rcpt	ITPR2 ITPR3	8.09e-05	6	44	2	IPR014821
Domain	Ryanodine_recept-rel	ITPR2 ITPR3	8.09e-05	6	44	2	IPR015925
Domain	-	ITPR2 ITPR3	8.09e-05	6	44	2	1.25.10.30
Domain	RYDR_ITPR	ITPR2 ITPR3	8.09e-05	6	44	2	PF01365
Domain	Ins145_P3_rec	ITPR2 ITPR3	8.09e-05	6	44	2	PF08709
Domain	Na_trans_cytopl	SCN1A SCN2A	8.09e-05	6	44	2	IPR024583
Domain	Ion_trans_dom	SCN1A SCN2A ITPR2 ITPR3	1.48e-04	114	44	4	IPR005821
Domain	Ion_trans	SCN1A SCN2A ITPR2 ITPR3	1.48e-04	114	44	4	PF00520
Domain	Na_channel_asu	SCN1A SCN2A	2.41e-04	10	44	2	IPR001696
Domain	MIR	ITPR2 ITPR3	2.41e-04	10	44	2	PS50919
Domain	MIR	ITPR2 ITPR3	2.41e-04	10	44	2	PF02815
Domain	MIR	ITPR2 ITPR3	2.41e-04	10	44	2	SM00472
Domain	MIR_motif	ITPR2 ITPR3	2.41e-04	10	44	2	IPR016093
Domain	Na_trans_assoc	SCN1A SCN2A	2.41e-04	10	44	2	IPR010526
Domain	Na_trans_assoc	SCN1A SCN2A	2.41e-04	10	44	2	PF06512
Domain	-	IQSEC1 PTPN3 AFAP1 ITSN1 BTK KIF1B	2.92e-04	391	44	6	2.30.29.30
Domain	PH_dom-like	IQSEC1 PTPN3 AFAP1 ITSN1 BTK KIF1B	4.61e-04	426	44	6	IPR011993
Domain	PH	IQSEC1 AFAP1 ITSN1 BTK KIF1B	4.76e-04	278	44	5	SM00233
Domain	PH_DOMAIN	IQSEC1 AFAP1 ITSN1 BTK KIF1B	4.84e-04	279	44	5	PS50003
Domain	PH_domain	IQSEC1 AFAP1 ITSN1 BTK KIF1B	4.92e-04	280	44	5	IPR001849
Domain	IQ_motif_EF-hand-BS	IQSEC1 SCN1A SCN2A	1.24e-03	90	44	3	IPR000048
Domain	IQ	IQSEC1 SCN1A SCN2A	1.37e-03	93	44	3	PS50096
Domain	PH	AFAP1 ITSN1 BTK KIF1B	2.03e-03	229	44	4	PF00169
Domain	PTPc	PTPN3 PTPN22	3.25e-03	36	44	2	SM00194
Domain	TYR_PHOSPHATASE_PTP	PTPN3 PTPN22	3.80e-03	39	44	2	PS50055
Domain	PTPase_domain	PTPN3 PTPN22	4.20e-03	41	44	2	IPR000242
Domain	Y_phosphatase	PTPN3 PTPN22	4.20e-03	41	44	2	PF00102
Domain	HEAT	HEATR1 ATR	5.71e-03	48	44	2	PF02985
Domain	Channel_four-helix_dom	SCN1A SCN2A	7.97e-03	57	44	2	IPR027359
Pathway	KEGG_MEDICUS_REFERENCE_BCR_PLCG_ITPR_SIGNALING_PATHWAY	BTK ITPR2 ITPR3	1.38e-06	9	37	3	M47852
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_INACTIVATED_PRKN_TO_MGLUR1_SIGNALING_PATHWAY	ITPR2 ITPR3	6.67e-05	5	37	2	M49000
Pathway	KEGG_MEDICUS_REFERENCE_CA2_PLCD_ITPR_SIGNALING_PATHWAY	ITPR2 ITPR3	9.99e-05	6	37	2	M47960
Pathway	SIG_PIP3_SIGNALING_IN_B_LYMPHOCYTES	BTK ITPR2 ITPR3	1.12e-04	36	37	3	M1315
Pathway	SIG_CHEMOTAXIS	BTK ITPR2 ITPR3	2.19e-04	45	37	3	M5193
Pathway	SIG_BCR_SIGNALING_PATHWAY	BTK ITPR2 ITPR3	2.34e-04	46	37	3	M8626
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_CAUSED_ABERRANT_SPTBN2_TO_MGLUR1_TRPC3_SIGNALING_PATHWAY	ITPR2 ITPR3	2.98e-04	10	37	2	M47661
Pathway	REACTOME_ANTIGEN_ACTIVATES_B_CELL_RECEPTOR_BCR_LEADING_TO_GENERATION_OF_SECOND_MESSENGERS	BTK ITPR2 ITPR3	3.56e-04	53	37	3	MM15716
Pathway	REACTOME_CARDIAC_CONDUCTION	SCN1A SCN2A ITPR2 ITPR3	3.60e-04	130	37	4	M27454
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_ACTIVATED_PRKCG_TO_MGLUR1_TRPC3_SIGNALING_PATHWAY	ITPR2 ITPR3	3.63e-04	11	37	2	M49033
Pathway	REACTOME_CLEC7A_DECTIN_1_INDUCES_NFAT_ACTIVATION	ITPR2 ITPR3	3.63e-04	11	37	2	M27466
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_CAUSED_ABERRANT_PSEN1_TO_MGLUR5_CA2_APOPTOTIC_PATHWAY	ITPR2 ITPR3	5.13e-04	13	37	2	M47696
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_INACTIVATED_SIGMAR1_TO_CA2_APOPTOTIC_PATHWAY	ITPR2 ITPR3	5.13e-04	13	37	2	M47751
Pathway	KEGG_MEDICUS_REFERENCE_MGLUR1_TRPC3_SIGNALING_PATHWAY	ITPR2 ITPR3	5.13e-04	13	37	2	M47656
Pathway	REACTOME_ELEVATION_OF_CYTOSOLIC_CA2_LEVELS	ITPR2 ITPR3	5.13e-04	13	37	2	MM14553
Pathway	REACTOME_CA2_PATHWAY	NLK ITPR2 ITPR3	5.66e-04	62	37	3	M27321
Pathway	REACTOME_ELEVATION_OF_CYTOSOLIC_CA2_LEVELS	ITPR2 ITPR3	7.86e-04	16	37	2	M26945
Pathway	KEGG_LONG_TERM_DEPRESSION	GRID2 ITPR2 ITPR3	8.07e-04	70	37	3	M8232
Pathway	WP_ALZHEIMERS_DISEASE	IDE ITPR2 ITPR3	9.49e-04	74	37	3	MM15962
Pathway	REACTOME_VEGFR2_MEDIATED_CELL_PROLIFERATION	ITPR2 ITPR3	1.11e-03	19	37	2	M27423
Pathway	KEGG_MEDICUS_VARIANT_SCRAPIE_CONFORMATION_PRPSC_TO_MGLUR5_CA2_APOPTOTIC_PATHWAY	ITPR2 ITPR3	1.11e-03	19	37	2	M47760
Pathway	KEGG_MEDICUS_REFERENCE_FANCONI_ANEMIA_PATHWAY	FANCM ATR	1.11e-03	19	37	2	M47853
Pathway	KEGG_MEDICUS_REFERENCE_TCR_PLCG_ITPR_SIGNALING_PATHWAY	ITPR2 ITPR3	1.11e-03	19	37	2	M47733
Pathway	KEGG_MEDICUS_REFERENCE_MACHR_CA2_APOPTOTIC_PATHWAY	ITPR2 ITPR3	1.24e-03	20	37	2	M47688
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_CAUSED_ABERRANT_ABETA_TO_MACHR_CA2_APOPTOTIC_PATHWAY	ITPR2 ITPR3	1.36e-03	21	37	2	M47689
Pathway	REACTOME_FCERI_MEDIATED_CA_2_MOBILIZATION	BTK ITPR2 ITPR3	1.47e-03	86	37	3	M27206
Pathway	REACTOME_ANTIGEN_ACTIVATES_B_CELL_RECEPTOR_BCR_LEADING_TO_GENERATION_OF_SECOND_MESSENGERS	BTK ITPR2 ITPR3	1.47e-03	86	37	3	M601
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_CAUSED_ABERRANT_ABETA_TO_MGLUR5_CA2_APOPTOTIC_PATHWAY	ITPR2 ITPR3	1.50e-03	22	37	2	M47690
Pathway	KEGG_MEDICUS_REFERENCE_MGLUR5_CA2_APOPTOTIC_PATHWAY	ITPR2 ITPR3	1.50e-03	22	37	2	M47675
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_CAUSED_ABERRANT_HTT_TO_MGLUR5_CA2_APOPTOTIC_PATHWAY	ITPR2 ITPR3	1.64e-03	23	37	2	M47676
Pathway	REACTOME_MUSCLE_CONTRACTION	SCN1A SCN2A ITPR2 ITPR3	1.90e-03	203	37	4	M5485
Pathway	REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS	ITPR2 ITPR3	1.94e-03	25	37	2	MM14511
Pathway	REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS	ITPR2 ITPR3	2.26e-03	27	37	2	M12123
Pathway	REACTOME_PLATELET_CALCIUM_HOMEOSTASIS	ITPR2 ITPR3	2.26e-03	27	37	2	MM15053
Pathway	REACTOME_PLATELET_CALCIUM_HOMEOSTASIS	ITPR2 ITPR3	2.43e-03	28	37	2	M924
Pathway	WP_DRAVET_SYNDROME	SCN1A SCN2A	2.43e-03	28	37	2	M45519
Pathway	KEGG_MEDICUS_REFERENCE_NUCLEAR_EXPORT_OF_MRNA	NXT1 NUP205	2.78e-03	30	37	2	M47752
Pathway	REACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS	SCN1A SCN2A	2.97e-03	31	37	2	M877
Pathway	REACTOME_PHASE_0_RAPID_DEPOLARISATION	SCN1A SCN2A	3.16e-03	32	37	2	M27455
Pathway	REACTOME_GLUCAGON_LIKE_PEPTIDE_1_GLP1_REGULATES_INSULIN_SECRETION	ITPR2 ITPR3	3.16e-03	32	37	2	MM14983
Pubmed	Inositol 1, 4, 5-trisphosphate receptor interacts with the SNARE domain of syntaxin 1B.	STX1B ITPR2 ITPR3	8.09e-09	4	45	3	21424589
Pubmed	Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.	SCN1A SCN2A	1.64e-06	2	45	2	29649454
Pubmed	Isoform diversity of the inositol trisphosphate receptor in cell types of mouse origin.	ITPR2 ITPR3	1.64e-06	2	45	2	9065779
Pubmed	Expression of IP3 receptor isoforms at the nodes of Ranvier in rat sciatic nerve.	ITPR2 ITPR3	1.64e-06	2	45	2	17496801
Pubmed	Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice.	SCN1A SCN2A	1.64e-06	2	45	2	10827969
Pubmed	Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population.	SCN1A SCN2A	1.64e-06	2	45	2	19694741
Pubmed	Mice lacking inositol 1,4,5-trisphosphate receptors exhibit dry eye.	ITPR2 ITPR3	1.64e-06	2	45	2	24901844
Pubmed	Adrenergic inhibition facilitates normalization of extracellular potassium after cortical spreading depolarization.	ITPR2 ITPR3	1.64e-06	2	45	2	33854148
Pubmed	Differential expression of two sodium channel subtypes in human brain.	SCN1A SCN2A	1.64e-06	2	45	2	1317301
Pubmed	Pancreatic protease activation by alcohol metabolite depends on Ca2+ release via acid store IP3 receptors.	ITPR2 ITPR3	1.64e-06	2	45	2	19528657
Pubmed	Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children.	SCN1A SCN2A	1.64e-06	2	45	2	33096315
Pubmed	Determination of relative amounts of inositol trisphosphate receptor mRNA isoforms by ratio polymerase chain reaction.	ITPR2 ITPR3	1.64e-06	2	45	2	8063813
Pubmed	Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.	SCN1A SCN2A	1.64e-06	2	45	2	31439038
Pubmed	Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors.	ITPR2 ITPR3	1.64e-06	2	45	2	8081734
Pubmed	ATR-dependent phosphorylation of FANCM at serine 1045 is essential for FANCM functions.	FANCM ATR	1.64e-06	2	45	2	23698467
Pubmed	Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.	SCN1A SCN2A	1.64e-06	2	45	2	26311622
Pubmed	IP3 receptor types 2 and 3 mediate exocrine secretion underlying energy metabolism.	ITPR2 ITPR3	1.64e-06	2	45	2	16195467
Pubmed	Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.	SCN1A SCN2A	1.64e-06	2	45	2	15249644
Pubmed	Molecular cloning of mouse type 2 and type 3 inositol 1,4,5-trisphosphate receptors and identification of a novel type 2 receptor splice variant.	ITPR2 ITPR3	1.64e-06	2	45	2	15632133
Pubmed	Inositol (1,4,5)-trisphosphate receptor links to filamentous actin are important for generating local Ca2+ signals in pancreatic acinar cells.	ITPR2 ITPR3	1.64e-06	2	45	2	15713744
Pubmed	The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe.	SCN1A SCN2A	1.64e-06	2	45	2	21377452
Pubmed	SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.	SCN1A SCN2A	1.64e-06	2	45	2	30693367
Pubmed	Rescue of calcineurin Aα(-/-) mice reveals a novel role for the α isoform in the salivary gland.	ITPR2 ITPR3	4.91e-06	3	45	2	21435446
Pubmed	Evidence that type I, II, and III inositol 1,4,5-trisphosphate receptors can occur as integral plasma membrane proteins.	ITPR2 ITPR3	4.91e-06	3	45	2	10874040
Pubmed	Expression of inositol 1,4,5-trisphosphate receptors in mouse oocytes and early embryos: the type I isoform is upregulated in oocytes and downregulated after fertilization.	ITPR2 ITPR3	4.91e-06	3	45	2	9808793
Pubmed	Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2.	SCN1A SCN2A	4.91e-06	3	45	2	28784306
Pubmed	Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy.	SCN1A SCN2A	4.91e-06	3	45	2	32185219
Pubmed	Abnormal distribution of inositol 1,4,5-trisphosphate receptors in human muscle can be related to altered calcium signals and gene expression in Duchenne dystrophy-derived cells.	ITPR2 ITPR3	4.91e-06	3	45	2	20395455
Pubmed	Sodium channels SCN1A, SCN2A and SCN3A in familial autism.	SCN1A SCN2A	4.91e-06	3	45	2	12610651
Pubmed	Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.	SCN1A SCN2A	4.91e-06	3	45	2	32005694
Pubmed	Inositol 1,4,5-trisphosphate receptors are autoantibody target antigens in patients with Sjögren's syndrome and other systemic rheumatic diseases.	ITPR2 ITPR3	4.91e-06	3	45	2	17437169
Pubmed	Type 2 and type 3 inositol 1,4,5-trisphosphate (IP3) receptors promote the differentiation of granule cell precursors in the postnatal cerebellum.	ITPR2 ITPR3	4.91e-06	3	45	2	18194433
Pubmed	SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.	SCN1A SCN2A	4.91e-06	3	45	2	23859570
Pubmed	Decreased olfactory mucus secretion and nasal abnormality in mice lacking type 2 and type 3 IP3 receptors.	ITPR2 ITPR3	4.91e-06	3	45	2	18547250
Pubmed	Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population.	ITPR2 ITPR3	4.91e-06	3	45	2	36350267
Pubmed	IP3 receptors regulate vascular smooth muscle contractility and hypertension.	ITPR2 ITPR3	4.91e-06	3	45	2	27777977
Pubmed	The versatility and universality of calcium signalling.	ITPR2 ITPR3	4.91e-06	3	45	2	11413485
Pubmed	Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.	SCN1A SCN2A	4.91e-06	3	45	2	18784617
Pubmed	Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.	SCN1A SCN2A	4.91e-06	3	45	2	17544618
Pubmed	Using concatenated subunits to investigate the functional consequences of heterotetrameric inositol 1,4,5-trisphosphate receptors.	ITPR2 ITPR3	4.91e-06	3	45	2	26009177
Pubmed	Differential inositol 1,4,5-trisphosphate receptor signaling in a neuronal cell line.	ITPR2 ITPR3	4.91e-06	3	45	2	17581770
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	4.91e-06	3	45	2	32845893
Pubmed	Predominant role of type 1 IP3 receptor in aortic vascular muscle contraction.	ITPR2 ITPR3	4.91e-06	3	45	2	18241669
Pubmed	Receptor-activated single channels in intact human platelets.	ITPR2 ITPR3	4.91e-06	3	45	2	1693919
Pubmed	Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.	SCN1A SCN2A	4.91e-06	3	45	2	28518218
Pubmed	Granulosa cells express three inositol 1,4,5-trisphosphate receptor isoforms: cytoplasmic and nuclear Ca2+ mobilization.	ITPR2 ITPR3	4.91e-06	3	45	2	19068129
Pubmed	Functional inositol 1,4,5-trisphosphate receptors assembled from concatenated homo- and heteromeric subunits.	ITPR2 ITPR3	4.91e-06	3	45	2	23955339
Pubmed	Type 3 Inositol 1,4,5-Trisphosphate Receptor is a Crucial Regulator of Calcium Dynamics Mediated by Endoplasmic Reticulum in HEK Cells.	ITPR2 ITPR3	4.91e-06	3	45	2	31979185
Pubmed	Gene-to-gene interaction between sodium channel-related genes in determining the risk of antiepileptic drug resistance.	SCN1A SCN2A	4.91e-06	3	45	2	19270815
Pubmed	Tsg101 regulates PI(4,5)P2/Ca(2+) signaling for HIV-1 Gag assembly.	ITPR2 ITPR3	4.91e-06	3	45	2	24904548
Pubmed	Molecular basis of the isoform-specific ligand-binding affinity of inositol 1,4,5-trisphosphate receptors.	ITPR2 ITPR3	4.91e-06	3	45	2	17327232
Pubmed	Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy.	SCN1A SCN2A	4.91e-06	3	45	2	25155934
Pubmed	Nuclear inositol 1,4,5-trisphosphate receptors regulate local Ca2+ transients and modulate cAMP response element binding protein phosphorylation.	ITPR2 ITPR3	4.91e-06	3	45	2	16014380
Pubmed	Remodeling of Interstrand Crosslink Proximal Replisomes Is Dependent on ATR, FANCM, and FANCD2.	FANCM ATR	4.91e-06	3	45	2	31067464
Pubmed	Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy.	SCN1A SCN2A	4.91e-06	3	45	2	17928448
Pubmed	Knockdown of the type 2 and 3 inositol 1,4,5-trisphosphate receptors suppresses muscarinic antinociception in mice.	ITPR2 ITPR3	4.91e-06	3	45	2	17890015
Pubmed	Early expression of sodium channel transcripts and sodium current by cajal-retzius cells in the preplate of the embryonic mouse neocortex.	SCN1A SCN2A	4.91e-06	3	45	2	14973256
Pubmed	Inositol 1, 4, 5-trisphosphate receptors and human left ventricular myocytes.	ITPR2 ITPR3	4.91e-06	3	45	2	23983250
Pubmed	Differential distribution of inositol trisphosphate receptor isoforms in mouse oocytes.	ITPR2 ITPR3	4.91e-06	3	45	2	9858485
Pubmed	Activation of the inositol (1,4,5)-triphosphate calcium gate receptor is required for HIV-1 Gag release.	ITPR2 ITPR3	4.91e-06	3	45	2	20427533
Pubmed	Loss of IP3R-dependent Ca2+ signalling in thymocytes leads to aberrant development and acute lymphoblastic leukemia.	ITPR2 ITPR3	9.81e-06	4	45	2	25215520
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	9.81e-06	4	45	2	17537961
Pubmed	Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse.	SCN1A SCN2A	9.81e-06	4	45	2	35031483
Pubmed	Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.	SCN1A SCN2A	9.81e-06	4	45	2	26637798
Pubmed	Abnormal taste perception in mice lacking the type 3 inositol 1,4,5-trisphosphate receptor.	ITPR2 ITPR3	9.81e-06	4	45	2	17925404
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	9.81e-06	4	45	2	29578003
Pubmed	Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.	SCN1A SCN2A	9.81e-06	4	45	2	21156207
Pubmed	IRE1α/XBP1-mediated branch of the unfolded protein response regulates osteoclastogenesis.	ITPR2 ITPR3	9.81e-06	4	45	2	26193638
Pubmed	Loss of IP3 Receptor-Mediated Ca2+ Release in Mouse B Cells Results in Abnormal B Cell Development and Function.	ITPR2 ITPR3	9.81e-06	4	45	2	28615414
Pubmed	Distinct localization and function of (1,4,5)IP(3) receptor subtypes and the (1,3,4,5)IP(4) receptor GAP1(IP4BP) in highly purified human platelet membranes.	ITPR2 ITPR3	9.81e-06	4	45	2	10828023
Pubmed	IP3R-mediated Ca2+ signals govern hematopoietic and cardiac divergence of Flk1+ cells via the calcineurin-NFATc3-Etv2 pathway.	ITPR2 ITPR3	9.81e-06	4	45	2	28419336
Pubmed	Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.	SCN1A SCN2A	9.81e-06	4	45	2	35801810
Pubmed	Alternative splice variants of hTrp4 differentially interact with the C-terminal portion of the inositol 1,4,5-trisphosphate receptors.	ITPR2 ITPR3	9.81e-06	4	45	2	11163362
Pubmed	IP3R-mediated Ca2+ signaling controls B cell proliferation through metabolic reprogramming.	ITPR2 ITPR3	9.81e-06	4	45	2	35494252
Pubmed	Use of recombinant inbred strains for studying genetic determinants of responses to alcohol.	SCN1A SCN2A	9.81e-06	4	45	2	8974318
Pubmed	Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2.	SCN1A SCN2A	1.63e-05	5	45	2	1679748
Pubmed	A new sodium channel alpha-subunit gene (Scn9a) from Schwann cells maps to the Scn1a, Scn2a, Scn3a cluster of mouse chromosome 2.	SCN1A SCN2A	1.63e-05	5	45	2	8812438
Pubmed	InsP₃receptors and Orai channels in pancreatic acinar cells: co-localization and its consequences.	ITPR2 ITPR3	1.63e-05	5	45	2	21568942
Pubmed	Widespread expression of inositol 1,4,5-trisphosphate receptor type 1 gene (Insp3r1) in the mouse central nervous system.	GRID2 ITPR3	1.63e-05	5	45	2	8081710
Pubmed	Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.	SCN1A SCN2A	1.63e-05	5	45	2	24337656
Pubmed	Intersectin, a novel adaptor protein with two Eps15 homology and five Src homology 3 domains.	GRID2 ITSN1	1.63e-05	5	45	2	9813051
Pubmed	Calmodulin protects against alcohol-induced pancreatic trypsinogen activation elicited via Ca2+ release through IP3 receptors.	ITPR2 ITPR3	1.63e-05	5	45	2	21436055
Pubmed	Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family.	PTPN3 PTPN22 HEATR1 IDE HMOX2 SARS1 ATR NUP205	2.29e-05	931	45	8	27432908
Pubmed	FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex.	FANCM ATR	2.45e-05	6	45	2	18995830
Pubmed	Roles of I(f) and intracellular Ca2+ release in spontaneous activity of ventricular cardiomyocytes during murine embryonic development.	ITPR2 ITPR3	2.45e-05	6	45	2	23463619
Pubmed	Sprouty2 regulates PI(4,5)P2/Ca2+ signaling and HIV-1 Gag release.	ITPR2 ITPR3	2.45e-05	6	45	2	21762810
Pubmed	A calcium-induced calcium release mechanism supports luteinizing hormone-induced testosterone secretion in mouse Leydig cells.	ITPR2 ITPR3	2.45e-05	6	45	2	20519450
Pubmed	Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.	ITPR2 ITPR3	2.45e-05	6	45	2	25966694
Pubmed	IP3Rs are sufficient for dendritic cell Ca2+ signaling in the absence of RyR1.	ITPR2 ITPR3	2.45e-05	6	45	2	16844763
Pubmed	A 'toothache tree' alkylamide inhibits Aδ mechanonociceptors to alleviate mechanical pain.	SCN1A SCN2A	2.45e-05	6	45	2	23652591
Pubmed	Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.	SCN1A SCN2A	3.42e-05	7	45	2	25818041
Pubmed	Developmental expression of the calcium release channels during early neurogenesis of the mouse cerebral cortex.	ITPR2 ITPR3	3.42e-05	7	45	2	11860456
Pubmed	Inositol-1,4,5-trisphosphate receptor regulates hepatic gluconeogenesis in fasting and diabetes.	ITPR2 ITPR3	3.42e-05	7	45	2	22495310
Pubmed	Roles of IP3R and RyR Ca2+ channels in endoplasmic reticulum stress and beta-cell death.	ITPR2 ITPR3	4.56e-05	8	45	2	19033399
Pubmed	BRCA1-mediated chromatin silencing is limited to oocytes with a small number of asynapsed chromosomes.	SYCP2 ATR	5.86e-05	9	45	2	19531582
Pubmed	International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.	SCN1A SCN2A	5.86e-05	9	45	2	16382098
Pubmed	Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart.	SCN1A SCN2A	5.86e-05	9	45	2	15746173
Pubmed	Ca2+ signals regulate mitochondrial metabolism by stimulating CREB-mediated expression of the mitochondrial Ca2+ uniporter gene MCU.	ITPR2 ITPR3	5.86e-05	9	45	2	25737585
Pubmed	Common variants associated with general and MMR vaccine-related febrile seizures.	SCN1A SCN2A	7.32e-05	10	45	2	25344690
Pubmed	Genetic profile of patients with epilepsy on first-line antiepileptic drugs and potential directions for personalized treatment.	SCN1A SCN2A	7.32e-05	10	45	2	20602612
Cytoband	2q24.3	SCN1A SCN2A	1.12e-04	16	45	2	2q24.3
Cytoband	1q24	BRINP2 SUCO	1.77e-04	20	45	2	1q24
Cytoband	Ensembl 112 genes in cytogenetic band chr1p13	CD58 PTPN22 SARS1	1.18e-03	211	45	3	chr1p13
GeneFamily	Inositol 1,4,5-triphosphate receptors\|Protein phosphatase 1 regulatory subunits	ITPR2 ITPR3	6.44e-06	3	27	2	297
GeneFamily	Sodium voltage-gated channel alpha subunits	SCN1A SCN2A	7.68e-05	9	27	2	1203
GeneFamily	Pleckstrin homology domain containing\|Rho guanine nucleotide exchange factors\|C2 domain containing	AFAP1 ITSN1 BTK KIF1B	2.34e-04	206	27	4	682
GeneFamily	Protein tyrosine phosphatases, non-receptor type	PTPN3 PTPN22	3.24e-04	18	27	2	812
GeneFamily	Pleckstrin homology domain containing\|Rho guanine nucleotide exchange factors\|C2 domain containing	RPGRIP1 ITSN1	1.31e-03	36	27	2	823
ToppCell	Children_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_2-D139\|Children_(3_yrs) / Lineage, Cell type, age group and donor	PTPN3 KANK1 FHIP1A SCN1A ITPR3	1.43e-06	192	45	5	cc9911e182a289779a2612bc213daae5607689e7
ToppCell	facs-Limb_Muscle-forelimb_and_hindlimb-18m-Lymphocytic-T_cell\|Limb_Muscle / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	RPGRIP1 PTPN22 SYCP2 ATR	2.48e-05	168	45	4	182f08106ac65ea501e2fb9139d3b44b7c4662c9
ToppCell	E16.5-Immune-Immune_Myeloid-Monocytic-Macrophage-AM-AM_prolif\|E16.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif	PTPN3 PTPN22 HEATR1 ALS2CL	2.54e-05	169	45	4	305cedbd97059029d7d2a248a8a4b6cfe281aa54
ToppCell	TCGA-Brain\|World / Sample_Type by Project: Shred V9	BRINP2 GRID2 STX1B SCN1A	2.60e-05	170	45	4	f78e360a6a44d599ec0d207cba4704e50aa314f8
ToppCell	facs-Brain_Non-Myeloid-Cerebellum_-18m-Neuronal\|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation	TMEM130 FAT2 SCN1A SCN2A	3.54e-05	184	45	4	7d9bcdaff8cbea4c50ab7db0f8e01f6bbd0ef593
ToppCell	ILEUM-inflamed-(3)_MNP-(3)_moDC\|(3)_MNP / shred on tissue, inflammation_status, cell class(v3), cell subclass (v2)	TMEM130 ABHD5 ITSN1 ITPR2	3.77e-05	187	45	4	0099def970fbc828756fbf853eca2ce77b8cd342
ToppCell	Non-neuronal-Non-dividing-OPC\|World / Primary Cells by Cluster	GRID2 KANK1 SCN1A ITPR2	3.93e-05	189	45	4	13848a031ab896b4b24c8319e4745b9b17ff9cfd
ToppCell	Non-neuronal-Non-dividing-OPC-OPC\|World / Primary Cells by Cluster	GRID2 KANK1 SCN1A ITPR2	3.93e-05	189	45	4	ddf5be73912570c32c50f4ac2902da9b590526f8
ToppCell	Non-neuronal-Non-dividing-OPC-OPC-30\|World / Primary Cells by Cluster	GRID2 KANK1 SCN1A ITPR2	3.93e-05	189	45	4	313d165fad541ec6e8dd524b88856e2c93eeb681
ToppCell	IPF-Epithelial-Basal\|IPF / Disease state, Lineage and Cell class	PTPN3 KANK1 FHIP1A CEMIP	4.01e-05	190	45	4	ea19e9ce954f2dfde97388db9695325cd92ab88f
ToppCell	COVID-19-lung-AT2\|lung / Disease (COVID-19 only), tissue and cell type	PTPN3 KANK1 FHIP1A SCN1A	4.09e-05	191	45	4	276455a64c2c3503d5048615762eb2ee37f0ac70
ToppCell	IPF-Epithelial-Basal\|World / Disease state, Lineage and Cell class	PTPN3 FAT2 KANK1 FHIP1A	4.18e-05	192	45	4	9b91e0b162e6f3ce86dd15cc33c2e745d069581f
ToppCell	Fetal_29-31_weeks-Epithelial-alveolar_epithelial_cell_type_2\|Fetal_29-31_weeks / Lineage, Cell type, age group and donor	PTPN3 KANK1 FHIP1A ITPR3	4.18e-05	192	45	4	fb2f0e897228f808d9ff734ad05e9b49dc38fa50
ToppCell	Epithelial-alveolar_epithelial_cell_type_2\|World / Lineage, Cell type, age group and donor	KANK1 FHIP1A SCN1A ITPR3	4.18e-05	192	45	4	58c3737be7acce39fd2b91d70d6d7b2bbaa4f710
ToppCell	facs-Brain_Non-Myeloid-Cortex-24m-Neuronal\|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation	BRINP2 TMEM130 SCN1A SCN2A	4.26e-05	193	45	4	be28070c049e7cb68bcd54f582226eb2f5e4bc1c
ToppCell	facs-Brain_Non-Myeloid-Cortex-24m-Neuronal-nan\|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation	BRINP2 TMEM130 SCN1A SCN2A	4.26e-05	193	45	4	0c652ebe22ce5d2927599dd97ef1920547858395
ToppCell	facs-Brain_Non-Myeloid-Cortex-24m-Neuronal-neuron\|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation	BRINP2 TMEM130 SCN1A SCN2A	4.26e-05	193	45	4	8689a70a33a7c3823dc647d41ac0160e7c3ae396
ToppCell	renal_papilla_nuclei-Adult_normal_reference-Epithelial\|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group	PTPN3 FHIP1A NLK SCN2A	4.53e-05	196	45	4	c7136b1c83bcf907eec3b02b151fa061298b6672
ToppCell	renal_papilla_nuclei-Hypertensive_with+without-CKD-Epithelial\|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group	PTPN3 KANK1 FHIP1A SCN2A	4.62e-05	197	45	4	7e93a97b5ac5ae2f77a4b3141082a1463fed00dd
ToppCell	Bronchial-NucSeq-Epithelial\|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations	PTPN3 KANK1 FHIP1A SCN1A	4.80e-05	199	45	4	5f7da3eab58ace6cddb3179a415cd839d5767958
ToppCell	Smart-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	TMEM130 KANK1 SCN1A SCN2A	4.80e-05	199	45	4	19a97e27a4758e794ce7246d295e112b47931a48
ToppCell	Fetal_brain-fetalBrain_Zhong_nature-GW26-OPC_related-OPC\|GW26 / Sample Type, Dataset, Time_group, and Cell type.	GRID2 KANK1 GLTP SCN1A	4.89e-05	200	45	4	02594c1edbc9f2cf831639cd83363abd2551cb94
ToppCell	Macroglial-Polydendrocytes-PDGFRA---\|Macroglial / cells hierarchy compared to all cells using T-Statistic	GRID2 AFAP1 SCN1A SCN2A	4.89e-05	200	45	4	4fc3de4bff7ed2bf40b38462c4b4e9b87af6a4ca
ToppCell	Macroglial-Polydendrocytes-PDGFRA-\|Macroglial / cells hierarchy compared to all cells using T-Statistic	GRID2 AFAP1 SCN1A SCN2A	4.89e-05	200	45	4	f17b5a54e8f9eba9dcd0808ba4e8d275ac41bce2
ToppCell	Macroglial-Polydendrocytes-PDGFRA--\|Macroglial / cells hierarchy compared to all cells using T-Statistic	GRID2 AFAP1 SCN1A SCN2A	4.89e-05	200	45	4	cc3409518f8b436ea92deb955e81114b3f410ff7
ToppCell	Fetal_brain-fetalBrain_Zhong_nature-GW26-OPC_related\|GW26 / Sample Type, Dataset, Time_group, and Cell type.	GRID2 KANK1 GLTP SCN1A	4.89e-05	200	45	4	46521d83b917b0357601db8783c8da6b73730d60
ToppCell	Macroglial-Polydendrocytes-PDGFRA----L1-6\|Macroglial / cells hierarchy compared to all cells using T-Statistic	GRID2 AFAP1 SCN1A SCN2A	4.89e-05	200	45	4	310cd53db1c137f6af74e6ae682221d7ac27310c
ToppCell	Macroglial-Polydendrocytes-PDGFRA\|Macroglial / cells hierarchy compared to all cells using T-Statistic	GRID2 AFAP1 SCN1A SCN2A	4.89e-05	200	45	4	c24a3099e3d96d8b72f6d05286bb355d661a0377
ToppCell	Macroglial-Polydendrocytes\|Macroglial / cells hierarchy compared to all cells using T-Statistic	GRID2 AFAP1 SCN1A SCN2A	4.89e-05	200	45	4	961858738ce35db8760c8c2e136f8369bc444ccf
Drug	2,4,4'-trichlorobiphenyl	RPGRIP1 PTPN3 TMEM130 FAT2 AFAP1 GLTP CHURC1 ATR FHIP1A STX1B SCN1A ITSN1 SCN2A KIF1B NUP205 CEMIP	5.06e-09	1411	45	16	ctd:C081766
Drug	2,4,5,2',5'-pentachlorobiphenyl	RPGRIP1 PTPN3 TMEM130 FAT2 AFAP1 GLTP CHURC1 ATR FHIP1A STX1B SCN1A ITSN1 SCN2A KIF1B NUP205 CEMIP	6.84e-09	1441	45	16	ctd:C009828
Drug	adenophostin A	ITPR2 ITPR3	3.82e-06	2	45	2	ctd:C085029
Drug	NaCl	ODC1 HMOX2 ABHD5 TNFAIP8L3 CHURC1 SARS1 SCN2A SLC4A2	1.30e-05	564	45	8	CID000005234
Drug	aflodac	FMO3 IDE AFAP1 ODC1 HMOX2 TNFAIP8L3	1.48e-05	271	45	6	CID000005352
Disease	Seizure, Febrile, Simple	STX1B SCN1A SCN2A	1.08e-07	7	44	3	C0149886
Disease	Seizure, Febrile, Complex	STX1B SCN1A SCN2A	1.08e-07	7	44	3	C0751057
Disease	Febrile Convulsions	STX1B SCN1A SCN2A	2.58e-07	9	44	3	C0009952
Disease	Generalized Epilepsy with Febrile Seizures Plus	STX1B SCN1A SCN2A	2.58e-07	9	44	3	C3502809
Disease	Diabetes mellitus type 1	PTPN22 ITPR3	1.30e-05	4	44	2	cv:C0011854
Disease	TYPE 1 DIABETES MELLITUS	PTPN22 ITPR3	1.30e-05	4	44	2	222100
Disease	generalized epilepsy with febrile seizures plus 2 (implicated_via_orthology)	SCN1A SCN2A	9.71e-05	10	44	2	DOID:0111294 (implicated_via_orthology)
Disease	Dravet syndrome (implicated_via_orthology)	SCN1A SCN2A	9.71e-05	10	44	2	DOID:0080422 (implicated_via_orthology)
Disease	autosomal dominant cerebellar ataxia (implicated_via_orthology)	ITPR2 ITPR3	1.42e-04	12	44	2	DOID:1441 (implicated_via_orthology)
Disease	generalized epilepsy with febrile seizures plus (implicated_via_orthology)	SCN1A SCN2A	1.42e-04	12	44	2	DOID:0060170 (implicated_via_orthology)
Disease	Infantile Severe Myoclonic Epilepsy	SCN1A SCN2A	1.68e-04	13	44	2	C0751122
Disease	MMR-related febrile seizures	SCN1A SCN2A	2.25e-04	15	44	2	EFO_0006519
Disease	Epilepsy, Cryptogenic	STX1B SCN1A SCN2A	2.52e-04	82	44	3	C0086237
Disease	Awakening Epilepsy	STX1B SCN1A SCN2A	2.52e-04	82	44	3	C0751111
Disease	Aura	STX1B SCN1A SCN2A	2.52e-04	82	44	3	C0236018
Disease	Early infantile epileptic encephalopathy with suppression bursts	SCN1A SCN2A	2.57e-04	16	44	2	C0393706
Disease	Febrile seizure (within the age range of 3 months to 6 years)	SCN1A SCN2A	3.27e-04	18	44	2	HP_0002373
Disease	anxiety disorder (implicated_via_orthology)	SCN1A SCN2A	4.93e-04	22	44	2	DOID:2030 (implicated_via_orthology)
Disease	Epilepsy	STX1B SCN1A SCN2A	5.82e-04	109	44	3	C0014544
Disease	response to bronchodilator, FEV/FEC ratio	GRID2 FAT2 KANK1 HEATR1 AFAP1 NUP205	9.14e-04	766	44	6	EFO_0004713, GO_0097366
Disease	Large cell carcinoma of lung	ATR BTK	1.05e-03	32	44	2	C0345958

Protein segments in the cluster

Peptide	Gene	Start	Entry
EYIESYTSCMVVQAF	ALS2CL	101	Q60I27
IMVLVDYSIEDTYTQ	SLC4A2	946	P04920
SNYVTEAEDSIEMYE	BTK	266	Q06187
YDYIDVEMSASVIQT	AFAP1	451	Q8N556
EEIYYEDMESFTISS	CCDC180	811	Q9P1Z9
IASTDYSMYQAEEFQ	CEMIP	441	Q8WUJ3
QSIETYSTSYPDTME	PTPN22	716	Q9Y2R2
NEMTYITETEDVFYT	PTPN3	401	P26045
YVDTEVEMKEIYTSN	ITPR2	1431	Q14571
YVDTEVEMKEIYTSN	ITPR3	1421	Q14573
FLMESVVVSEYFYQE	NUP205	371	Q92621
IQTDYIVYMDELSSF	FMO3	426	P31513
TIYNLTSSDEDEYEM	CD58	91	P19256
EEMSYSVEVSYMEIY	KIF1B	136	O60333
MTASYSDVTLYIDEE	IQSEC1	296	Q6DN90
SYELEVESYLQMEDV	FANCM	776	Q8IYD8
ENVVDFTTRYMDYSV	GRID2	531	O43424
ETYYSFTVMETDPVN	FAT2	1351	Q9NYQ8
YIDYEEEEMETVEQS	KANK1	346	Q14678
TTALYFTYSALEEEM	HMOX2	71	P30519
YFEEIYVVTELMQSD	NLK	211	Q9UBE8
SYSMEQDKVVSVFYT	OR5AP2	271	Q8NGF4
SMVSTVDYEDYQSVT	ATR	1616	Q13535
SYIEESDFQDDVMVY	FHIP1A	631	Q05DH4
MDYTLDLSVTTVTDY	CCR8	1	P51685
VVSGEEFIAMYTYES	ITSN1	1001	Q15811
NYTATIDVIYEMYTQ	GLTP	186	Q9NZD2
IEIYYQTDMQSTSEN	IDE	791	P14735
FEEYISYSSQEEMDS	HEATR1	401	Q9H583
EDESSEQTFMYYVND	ODC1	306	P11926
AAEEFVNVYYTTMDK	NXT1	16	Q9UKK6
FEEMITTAEEFYQSL	SARS1	341	P49591
YDFTSQYVMETDSLF	RPGRIP1	676	Q96KN7
SVEKYIIDESDYMSF	SCN1A	1091	P35498
YSSMFEDDTVTEYIY	ABHD5	236	Q8WTS1
SSNETIYYEPLEMTD	BRINP2	656	Q9C0B6
HEYTFSIMDEFQEYT	CHURC1	71	Q8WUH1
SMVTFEDVAVYFSQE	ZNF132	36	P52740
NQTAMTIVSFYEVEY	TNFAIP8L3	201	Q5GJ75
FVEVMTEYNATQSKY	STX1B	126	P61266
IEMTYETYERLNSEF	SYCP2	1356	Q9BX26
SVEKYVVDESDYMSF	SCN2A	1081	Q99250
TSMVEEYEEIADSQY	SUCO	451	Q9UBS9
QMVTEDSVVYYNYSI	TMEM130	186	Q8N3G9
MYTFVVRDENSSVYA	TTL	1	Q8NG68