Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6328
Gene name	Sodium voltage-gated channel alpha subunit 3
Gene symbol	SCN3A
Synonyms (NCBI Gene)	DEE62EIEE62FFEVF4NAC3Nav1.3
Chromosome	2
Chromosome location	2q24.3
Summary	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials i

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76144052	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs138331141	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs138766015	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs139769668	C>A,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant
rs143360102	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs145171998	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs145492863	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs146624492	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs199597878	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199975643	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs368608408	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs370351101	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370428859	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs371709966	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs748935500	A>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs755159935	A>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs755440336	C>T	Pathogenic	Missense variant, coding sequence variant
rs758906955	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs774195502	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs797044933	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1057518801	A>G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057520753	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1199412903	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1553517203	AG>-	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553517274	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553537132	A>G	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1574159505	CAA>-	Likely-pathogenic	Coding sequence variant, inframe deletion

106

Show/Hide all (106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018072	hsa-miR-335-5p	Microarray	18185580
MIRT022759	hsa-miR-124-3p	Microarray	18668037
MIRT023856	hsa-miR-1-3p	Microarray	18668037
MIRT1329958	hsa-miR-1179	CLIP-seq
MIRT1329959	hsa-miR-1183	CLIP-seq
MIRT1329960	hsa-miR-3137	CLIP-seq
MIRT1329961	hsa-miR-3163	CLIP-seq
MIRT1329962	hsa-miR-3613-3p	CLIP-seq
MIRT1329963	hsa-miR-4432	CLIP-seq
MIRT1329964	hsa-miR-4694-3p	CLIP-seq
MIRT1329965	hsa-miR-4699-3p	CLIP-seq
MIRT1329966	hsa-miR-4729	CLIP-seq
MIRT1329967	hsa-miR-4738-3p	CLIP-seq
MIRT1329968	hsa-miR-4803	CLIP-seq
MIRT1329969	hsa-miR-499-5p	CLIP-seq
MIRT1329970	hsa-miR-520d-5p	CLIP-seq
MIRT1329971	hsa-miR-524-5p	CLIP-seq
MIRT1329972	hsa-miR-548ac	CLIP-seq
MIRT1329973	hsa-miR-548d-3p	CLIP-seq
MIRT1329974	hsa-miR-548g	CLIP-seq
MIRT1329975	hsa-miR-548z	CLIP-seq
MIRT1329959	hsa-miR-1183	CLIP-seq
MIRT1329976	hsa-miR-1271	CLIP-seq
MIRT1329977	hsa-miR-132	CLIP-seq
MIRT1329978	hsa-miR-182	CLIP-seq
MIRT1329979	hsa-miR-212	CLIP-seq
MIRT1329980	hsa-miR-223	CLIP-seq
MIRT1329960	hsa-miR-3137	CLIP-seq
MIRT1329981	hsa-miR-3622b-5p	CLIP-seq
MIRT1329982	hsa-miR-4328	CLIP-seq
MIRT1329983	hsa-miR-4535	CLIP-seq
MIRT1329984	hsa-miR-4642	CLIP-seq
MIRT1329964	hsa-miR-4694-3p	CLIP-seq
MIRT1329967	hsa-miR-4738-3p	CLIP-seq
MIRT1329985	hsa-miR-492	CLIP-seq
MIRT1329974	hsa-miR-548g	CLIP-seq
MIRT1329986	hsa-miR-96	CLIP-seq
MIRT1329959	hsa-miR-1183	CLIP-seq
MIRT1329960	hsa-miR-3137	CLIP-seq
MIRT1329964	hsa-miR-4694-3p	CLIP-seq
MIRT1329967	hsa-miR-4738-3p	CLIP-seq
MIRT1329974	hsa-miR-548g	CLIP-seq
MIRT1329959	hsa-miR-1183	CLIP-seq
MIRT1329960	hsa-miR-3137	CLIP-seq
MIRT1329964	hsa-miR-4694-3p	CLIP-seq
MIRT1329967	hsa-miR-4738-3p	CLIP-seq
MIRT1329974	hsa-miR-548g	CLIP-seq
MIRT1329959	hsa-miR-1183	CLIP-seq
MIRT1329960	hsa-miR-3137	CLIP-seq
MIRT1329964	hsa-miR-4694-3p	CLIP-seq
MIRT2097777	hsa-miR-4700-3p	CLIP-seq
MIRT1329967	hsa-miR-4738-3p	CLIP-seq
MIRT2097778	hsa-miR-4766-3p	CLIP-seq
MIRT1329974	hsa-miR-548g	CLIP-seq
MIRT2322068	hsa-miR-103a	CLIP-seq
MIRT2322069	hsa-miR-107	CLIP-seq
MIRT1329959	hsa-miR-1183	CLIP-seq
MIRT1329976	hsa-miR-1271	CLIP-seq
MIRT1329977	hsa-miR-132	CLIP-seq
MIRT1329978	hsa-miR-182	CLIP-seq
MIRT1329979	hsa-miR-212	CLIP-seq
MIRT2322070	hsa-miR-214	CLIP-seq
MIRT1329980	hsa-miR-223	CLIP-seq
MIRT2322071	hsa-miR-3121-3p	CLIP-seq
MIRT1329960	hsa-miR-3137	CLIP-seq
MIRT2322072	hsa-miR-3619-5p	CLIP-seq
MIRT1329981	hsa-miR-3622b-5p	CLIP-seq
MIRT2322073	hsa-miR-3924	CLIP-seq
MIRT2322074	hsa-miR-4279	CLIP-seq
MIRT2322075	hsa-miR-4291	CLIP-seq
MIRT1329982	hsa-miR-4328	CLIP-seq
MIRT2322076	hsa-miR-4519	CLIP-seq
MIRT1329983	hsa-miR-4535	CLIP-seq
MIRT1329984	hsa-miR-4642	CLIP-seq
MIRT1329964	hsa-miR-4694-3p	CLIP-seq
MIRT2322077	hsa-miR-4698	CLIP-seq
MIRT2322078	hsa-miR-4728-3p	CLIP-seq
MIRT1329967	hsa-miR-4738-3p	CLIP-seq
MIRT1329985	hsa-miR-492	CLIP-seq
MIRT1329974	hsa-miR-548g	CLIP-seq
MIRT2322079	hsa-miR-628-5p	CLIP-seq
MIRT2322080	hsa-miR-761	CLIP-seq
MIRT2322081	hsa-miR-922	CLIP-seq
MIRT1329986	hsa-miR-96	CLIP-seq
MIRT1329959	hsa-miR-1183	CLIP-seq
MIRT1329976	hsa-miR-1271	CLIP-seq
MIRT1329977	hsa-miR-132	CLIP-seq
MIRT1329978	hsa-miR-182	CLIP-seq
MIRT1329979	hsa-miR-212	CLIP-seq
MIRT1329980	hsa-miR-223	CLIP-seq
MIRT1329960	hsa-miR-3137	CLIP-seq
MIRT1329981	hsa-miR-3622b-5p	CLIP-seq
MIRT1329982	hsa-miR-4328	CLIP-seq
MIRT1329983	hsa-miR-4535	CLIP-seq
MIRT1329984	hsa-miR-4642	CLIP-seq
MIRT1329964	hsa-miR-4694-3p	CLIP-seq
MIRT1329967	hsa-miR-4738-3p	CLIP-seq
MIRT1329985	hsa-miR-492	CLIP-seq
MIRT1329974	hsa-miR-548g	CLIP-seq
MIRT1329986	hsa-miR-96	CLIP-seq
MIRT2618488	hsa-miR-188-5p	CLIP-seq
MIRT2618489	hsa-miR-507	CLIP-seq
MIRT2618490	hsa-miR-557	CLIP-seq
MIRT2618488	hsa-miR-188-5p	CLIP-seq
MIRT2618489	hsa-miR-507	CLIP-seq
MIRT2618490	hsa-miR-557	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	35277491
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	35277491
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA	35277491
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	NAS	9589372
GO:0009925	Component	Basal plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0048266	Process	Behavioral response to pain	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086010	Process	Membrane depolarization during action potential	IDA	35277491

MIM	HGNC	e!Ensembl
182391	10590	ENSG00000153253

Q9NY46

Protein name

Sodium channel protein type 3 subunit alpha (Sodium channel protein brain III subunit alpha) (Sodium channel protein type III subunit alpha) (Voltage-gated sodium channel subtype III) (Voltage-gated sodium channel subunit alpha Nav1.3)

Protein function

Pore-forming subunit of Nav1.3, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s

PDB

7W77 , 7W7F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	127 → 435	Ion transport protein	Family
PF11933	Na_trans_cytopl	507 → 710	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	759 → 994	Ion transport protein	Family
PF06512	Na_trans_assoc	998 → 1201	Sodium ion transport-associated	Family
PF00520	Ion_trans	1205 → 1478	Ion transport protein	Family
PF00520	Ion_trans	1525 → 1782	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in enterochromaffin cells in both colon and small bowel (at protein level). {ECO:0000269|PubMed:29142310}.

Sequence

MAQALLVPPGPESFRLFTRESLAAIEKRAAEEKAKKPKKEQDNDDENKPKPNSDLEAGKN
LPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVMNKGKAIFRFSATSALYILTPLNPVRKI
AIKILVHSLFSMLIMCTILTNCVFMTLSNPPDWTKNVEYTFTGIYTFESLIKILARGFCL
EDFTFLRDPWNWLDFSVIVMAYVTEFVSLGNVSALRTFRVLRALKTISVIPGLKTIVGAL
IQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPSDSAFETNTTSYFNGTMD
SNGTFVNVTMSTFNWKDYIGDDSHFYVLDGQKDPLLCGNGSDAGQCPEGYICVKAGRNPN
YGYTSFDTFSWAFLSLFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLVNLIL
AVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAVAAASAASRDFSGIGGLGE
LLESSSEASKLSSKSAKEWRNRRKKRRQREHLEGNNKGERDSFPKSESEDSVKRSSFLFS
MDGNRLTSDKKFCSPHQSLLSIRGSLFSPRRNSKTSIFSFRGRAKDVGSENDFADDEHST
FEDSESRRDSLFVPHRHGERRNSNVSQASMSSRMVPGLPANGKMHSTVDCNGVVSLVGGP
SALTSPTGQLPPEGTTTETEVRKRRLSSYQISMEMLEDSSGRQRAVSIASILTNTMEELE
ESRQKCPPCWYRFANVFLIWDCCDAWLKVKHLVNLIVMDPFVDLAITICIVLNTLFMAME
HYPMTEQFSSVLTVGNLVFTGIFTAEMVLKIIAMDPYYYFQEGWNIFDGIIVSLSLMELG
LSNVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVG
MQLFGKSYKECVCKINDDCTLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMC
LIVFMLVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDYVKN
KMRECFQKAFFRKPKVIEIHEGNKIDSCMSNNTGIEISKELNYLRDGNGTTSGVGTGSSV
EKYVIDENDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESELEESKEKLNATSSSE
GSTVDVVLPREGEQAETEPEEDLKPEACFTEGCIKKFPFCQVSTEEGKGKIWWNLRKTCY
SIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWV
AYGFQTYFTNAWCWLDFLIVDVSLVSLVANALGYSELGAIKSLRTLRALRPLRALSRFEG
MRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNMTTGNMFDISDVNN
LSDCQALGKQARWKNVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRDVKLQPVYEE
NLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLG
SKKPQKPIPRPANKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQGKYMTLVLSR
INLVFIVLFTGEFVLKLVSLRHYYFTIGWNIFDFVVVILSIVGMFLAEMIEKYFVSPTLF
RVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYV
KKEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSAPPDCDPDTIHPGSSVKGD
CGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKF
DPDATQFIEFSKLSDFAAALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRV
LGESGEMDALRIQMEDRFMASNPSKVSYEPITTTLKRKQEEVSAAIIQRNFRCYLLKQRL
KNISSNYNKEAIKGRIDLPIKQDMIIDKLNGNSTPEKTDGSSSTTSPPSYDSVTKPDKEK
FEKDKPEKESKGKEVRENQK

Sequence length

2000

Interactions

View interactions

	KEGG		Reactome
	Taste transduction		Phase 0 - rapid depolarisation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
atypical cerebral palsy	Likely pathogenic	rs1553537132	RCV000655959	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital bilateral perisylvian syndrome	Likely pathogenic; Pathogenic	rs1199412903	RCV003446092	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2105776898, rs2105636234, rs2105621335, rs2105895111, rs1057518801, rs1057520753, rs1199412903, rs1553517274, rs755159935, rs1689488709	RCV003992557 RCV003992558 RCV003992559 RCV004577557 RCV003243119 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 62	Likely pathogenic; Pathogenic	rs1685039783, rs2105776898, rs2105772689, rs2105636234, rs2105635851, rs2105621618, rs2105621335, rs2105619771, rs1553527930, rs1574270768, rs1057518801, rs1057520753, rs1553537132, rs1199412903, rs1553517274, rs1574159505, rs755159935 View all (2 more)	RCV001775229 RCV001800240 RCV001800241 RCV001800242 RCV001800243 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay	Pathogenic	rs1057518801	RCV000415038	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic	rs1057518801	RCV004798831	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, familial focal, with variable foci 4	Likely pathogenic; Pathogenic	rs2105619771, rs1553527930, rs1057518801, rs2105890565	RCV002246515 RCV002465081 RCV001199328 RCV000625711	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polymicrogyria	Pathogenic	rs1057518801	RCV000415038	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, COMPLEX PARTIAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, familial focal, with variable foci 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy, focal, SCN3A related	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, idiopathic generalized, susceptibility to, 7	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Uncertain significance	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERISYLVIAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN3A-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN3A-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN3A-related neurodevelopmental sisorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (74)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	29929112, 30071822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29929112, 30071822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29466837, 37935051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30993766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	27816501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	BEFREE	22029951, 27153334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptogenic Partial Complex Epilepsy	Cryptogenic Partial Complex Epilepsy	CTD_human_DG	18242854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASDB_DG	21871595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32515017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	18242854, 24157691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	18242854, 24157691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	GENOMICS_ENGLAND_DG	24157691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18242854, 18784617, 20351042, 21893419, 23859570, 24080482, 24157691, 24990319, 25459751, 25524840, 25843248, 27013471, 27816501, 31677917		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	18242854, 21893419, 24157691, 28074849, 32515017, 35801810, 37995443	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	21893419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Complex Partial	Epilepsy	CTD_human_DG	18242854		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	Epilepsy	UNIPROT_DG	24157691, 28235671		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	Epilepsy	GENOMICS_ENGLAND_DG	28235671		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4	Epilepsy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, Symptomatic, Partial Complex	Epilepsy	CTD_human_DG	18242854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29466837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36571524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	28235671, 29466837		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62	Epileptic encephalopathy	UNIPROT_DG	29466837		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	33895391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	10486327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	30071822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30212560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20807223, 22029951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29466837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32515017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	32515017, 37935051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30993766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24080482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20807223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	27816501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25525853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31677917		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	28617566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29929112, 30071822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	29466837, 37486637	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 1	Retinitis Pigmentosa	BEFREE	25915513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	10486327, 30071822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	10486327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	29929112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	30212560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	30071822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	29929112		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	29466837		★★★★★ ★☆☆☆☆ Found in Text Mining only

SCN3A (sodium voltage-gated channel alpha subunit 3)