SCN1B (sodium voltage-gated channel beta subunit 1)

Gene

• Entrez ID: 6324
• Gene name: Sodium voltage-gated channel beta subunit 1
• Gene symbol: SCN1B
• Synonyms (NCBI Gene): ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1
• Chromosome: 19
• Chromosome location: 19q13.11
• Summary: Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs16969925	G>A	Pathogenic	Coding sequence variant, missense variant
rs66876876	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs72552027	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs72558026	G>A	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs72558028	G>A,C	Likely-benign, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs104894718	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, stop gained
rs121434627	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs193922728	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs267607028	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, intron variant
rs267607029	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs369032304	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs724159982	A>C	Pathogenic	Splice acceptor variant
rs786205830	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs786205837	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs794727487	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs931949929	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs1057519457	A>T	Pathogenic	Coding sequence variant, missense variant
rs1064794589	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1135401736	C>T	Pathogenic	Coding sequence variant, missense variant
rs1600364712	T>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016821	hsa-miR-335-5p	Microarray	18185580
MIRT047007	hsa-miR-210-3p	CLASH	23622248
MIRT038411	hsa-miR-296-3p	CLASH	23622248
MIRT531887	hsa-miR-136-3p	PAR-CLIP	22012620
MIRT531886	hsa-miR-6785-3p	PAR-CLIP	22012620
MIRT531885	hsa-miR-6801-3p	PAR-CLIP	22012620
MIRT531884	hsa-miR-6810-3p	PAR-CLIP	22012620
MIRT531883	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT531882	hsa-miR-6846-3p	PAR-CLIP	22012620
MIRT531880	hsa-miR-4755-3p	PAR-CLIP	22012620
MIRT531881	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT531887	hsa-miR-136-3p	PAR-CLIP	22012620
MIRT531886	hsa-miR-6785-3p	PAR-CLIP	22012620
MIRT531885	hsa-miR-6801-3p	PAR-CLIP	22012620
MIRT531884	hsa-miR-6810-3p	PAR-CLIP	22012620
MIRT531883	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT531882	hsa-miR-6846-3p	PAR-CLIP	22012620
MIRT531880	hsa-miR-4755-3p	PAR-CLIP	22012620
MIRT531881	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT1329755	hsa-miR-1224-3p	CLIP-seq
MIRT1329756	hsa-miR-1321	CLIP-seq
MIRT1329757	hsa-miR-1322	CLIP-seq
MIRT1329758	hsa-miR-138	CLIP-seq
MIRT1329759	hsa-miR-1913	CLIP-seq
MIRT1329760	hsa-miR-3144-5p	CLIP-seq
MIRT1329761	hsa-miR-3147	CLIP-seq
MIRT1329762	hsa-miR-324-3p	CLIP-seq
MIRT1329763	hsa-miR-342-5p	CLIP-seq
MIRT1329764	hsa-miR-3922-5p	CLIP-seq
MIRT1329765	hsa-miR-4270	CLIP-seq
MIRT1329766	hsa-miR-4299	CLIP-seq
MIRT1329767	hsa-miR-4313	CLIP-seq
MIRT1329768	hsa-miR-4433	CLIP-seq
MIRT1329769	hsa-miR-4441	CLIP-seq
MIRT1329770	hsa-miR-4466	CLIP-seq
MIRT1329771	hsa-miR-4514	CLIP-seq
MIRT1329772	hsa-miR-4649-5p	CLIP-seq
MIRT1329773	hsa-miR-4664-5p	CLIP-seq
MIRT1329774	hsa-miR-4692	CLIP-seq
MIRT1329775	hsa-miR-4706	CLIP-seq
MIRT1329776	hsa-miR-4710	CLIP-seq
MIRT1329777	hsa-miR-4722-5p	CLIP-seq
MIRT1329778	hsa-miR-4726-3p	CLIP-seq
MIRT1329779	hsa-miR-4728-5p	CLIP-seq
MIRT1329780	hsa-miR-4739	CLIP-seq
MIRT1329781	hsa-miR-4749-5p	CLIP-seq
MIRT1329782	hsa-miR-4756-5p	CLIP-seq
MIRT1329783	hsa-miR-4779	CLIP-seq
MIRT1329784	hsa-miR-4792	CLIP-seq
MIRT1329785	hsa-miR-486-3p	CLIP-seq
MIRT1329786	hsa-miR-5095	CLIP-seq
MIRT1329787	hsa-miR-675	CLIP-seq
MIRT1329788	hsa-miR-744	CLIP-seq
MIRT1329789	hsa-miR-765	CLIP-seq
MIRT1329790	hsa-miR-922	CLIP-seq
MIRT1329761	hsa-miR-3147	CLIP-seq
MIRT1329772	hsa-miR-4649-5p	CLIP-seq
MIRT1329777	hsa-miR-4722-5p	CLIP-seq
MIRT1329779	hsa-miR-4728-5p	CLIP-seq
MIRT1329785	hsa-miR-486-3p	CLIP-seq
MIRT2322048	hsa-miR-1254	CLIP-seq
MIRT2322049	hsa-miR-3116	CLIP-seq
MIRT2322050	hsa-miR-3937	CLIP-seq
MIRT2322051	hsa-miR-4254	CLIP-seq
MIRT2322052	hsa-miR-4488	CLIP-seq
MIRT2322053	hsa-miR-4697-5p	CLIP-seq
MIRT2322054	hsa-miR-4731-5p	CLIP-seq
MIRT2322055	hsa-miR-4746-3p	CLIP-seq
MIRT1329785	hsa-miR-486-3p	CLIP-seq
MIRT2322056	hsa-miR-550a	CLIP-seq
MIRT2322057	hsa-miR-637	CLIP-seq
MIRT2322058	hsa-miR-661	CLIP-seq
MIRT2322048	hsa-miR-1254	CLIP-seq
MIRT2394087	hsa-miR-185	CLIP-seq
MIRT2322049	hsa-miR-3116	CLIP-seq
MIRT2322050	hsa-miR-3937	CLIP-seq
MIRT2322051	hsa-miR-4254	CLIP-seq
MIRT2394088	hsa-miR-4306	CLIP-seq
MIRT2322052	hsa-miR-4488	CLIP-seq
MIRT2394089	hsa-miR-4644	CLIP-seq
MIRT2322053	hsa-miR-4697-5p	CLIP-seq
MIRT2322054	hsa-miR-4731-5p	CLIP-seq
MIRT2322055	hsa-miR-4746-3p	CLIP-seq
MIRT1329785	hsa-miR-486-3p	CLIP-seq
MIRT2322056	hsa-miR-550a	CLIP-seq
MIRT2322057	hsa-miR-637	CLIP-seq
MIRT2322058	hsa-miR-661	CLIP-seq
MIRT2458923	hsa-miR-2467-5p	CLIP-seq
MIRT2458924	hsa-miR-3160-5p	CLIP-seq
MIRT2458925	hsa-miR-3188	CLIP-seq
MIRT2458926	hsa-miR-3921	CLIP-seq
MIRT2458927	hsa-miR-3975	CLIP-seq
MIRT2458928	hsa-miR-4314	CLIP-seq
MIRT2458929	hsa-miR-4522	CLIP-seq
MIRT2458930	hsa-miR-4649-3p	CLIP-seq
MIRT2458931	hsa-miR-4653-5p	CLIP-seq
MIRT2458932	hsa-miR-4667-5p	CLIP-seq
MIRT2458933	hsa-miR-4700-5p	CLIP-seq
MIRT2458934	hsa-miR-4714-5p	CLIP-seq
MIRT2458935	hsa-miR-485-5p	CLIP-seq
MIRT2322057	hsa-miR-637	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	8125980, 19808477, 21051419, 30190309, 35277491, 36696443, 36823201
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0002028	Process	Regulation of sodium ion transport	IEA
GO:0005515	Function	Protein binding	IPI	26900580, 30190309
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IDA	35277491
GO:0005886	Component	Plasma membrane	IDA	19710327, 30190309
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0010765	Process	Positive regulation of sodium ion transport	IDA	19808477
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	IEA
GO:0017080	Function	Sodium channel regulator activity	IDA	14622265
GO:0017080	Function	Sodium channel regulator activity	IDA	8125980, 14622265, 18464934, 19710327, 19808477, 36696443
GO:0017080	Function	Sodium channel regulator activity	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019227	Process	Neuronal action potential propagation	ISS
GO:0019871	Function	Sodium channel inhibitor activity	IBA
GO:0019871	Function	Sodium channel inhibitor activity	IEA
GO:0019871	Function	Sodium channel inhibitor activity	ISS	17884088
GO:0021966	Process	Corticospinal neuron axon guidance	IEA
GO:0021966	Process	Corticospinal neuron axon guidance	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0030424	Component	Axon	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0034706	Component	Sodium channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	18464934, 21051419
GO:0040011	Process	Locomotion	IEA
GO:0040011	Process	Locomotion	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0051899	Process	Membrane depolarization	IDA	21051419
GO:0060048	Process	Cardiac muscle contraction	IMP	19808477
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	ISS	17884088
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IMP	19808477, 22247482
GO:0061337	Process	Cardiac conduction	IEA
GO:0061337	Process	Cardiac conduction	ISS
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	19808477
GO:0086010	Process	Membrane depolarization during action potential	IDA	35277491
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IBA
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IEA
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IMP	19808477
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	ISS	17884088
GO:0086047	Process	Membrane depolarization during Purkinje myocyte cell action potential	IMP	18464934
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	19808477
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	14622265
GO:1905152	Process	Positive regulation of voltage-gated sodium channel activity	IDA	36696443

Other IDs

• MIM: 600235
• HGNC: 10586
• e!Ensembl: ENSG00000105711

Protein

• UniProt ID: Q07699
• Protein name: Sodium channel regulatory subunit beta-1
• Protein function: Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by swi
• PDB: 6AGF, 6J8G, 6J8H, 6J8I, 6J8J, 7W77, 7W7F, 7W9K, 7W9L, 7W9M, 7W9P, 7W9T, 7XM9, 7XMF, 7XMG, 7XVE, 7XVF, 8FHD, 8G1A, 8GZ1, 8GZ2, 8I5B, 8I5G, 8I5X, 8I5Y, 8J4F, 8S9B, 8S9C, 8THG, 8THH, 8XMM, 8XMN, 8XMO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	23 → 146	Immunoglobulin V-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: The overall expression of isoform 1 and isoform 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in hea
• Sequence:

  MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFR
  QKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYE
  CHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIY
  CYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE

• Sequence length: 218

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Atrial fibrillation, familial, 13	Likely pathogenic; Pathogenic	rs104894718, rs16969925	RCV000184010 RCV000054537	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada syndrome 5	Pathogenic; Likely pathogenic	rs2151746426, rs2151746369, rs786205835, rs786205830, rs138450474, rs794727487, rs2514234475, rs2514240912, rs2514234786, rs2064230124, rs104894718, rs2514233130, rs2514232999, rs1568348569, rs2514232982, rs2064208424, rs1600370558, rs16969925, rs2064222084, rs2064208734	RCV002014540 RCV001885863 RCV003067340 RCV001127219 RCV002515234 RCV001320975 RCV002861464 RCV002898924 RCV002877525 RCV003055259 RCV000646741 RCV003510746 RCV003511298 RCV003511286 RCV003510175 RCV003623809 RCV003509616 RCV000763041 RCV001061114 RCV001041440	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy	Pathogenic	rs1057519457	RCV000416448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs786205830, rs794727487, rs104894718, rs16969925	RCV000620273 RCV006342147 RCV002316188 RCV002453365	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conduction system disorder	Pathogenic	rs267607029	RCV000009838	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 52	Likely pathogenic; Pathogenic	rs786205830, rs104894718, rs2514235517, rs931949929, rs1600370558, rs1600364712, rs16969925	RCV003448275 RCV000763042 RCV003990275 RCV000417192 RCV000856658 RCV000856659 RCV000763041	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized epilepsy with febrile seizures plus, type 1	Likely pathogenic; Pathogenic	rs786205830, rs104894718, rs724159982, rs1600370558, rs16969925	RCV000500892 RCV000009834 RCV000009835 RCV000984918 RCV000763041	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genetic developmental and epileptic encephalopathy	Pathogenic	rs1600370558	RCV006271675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN1B-related disorder	Likely pathogenic; Pathogenic	rs104894718, rs16969925	RCV004532319 RCV004542717	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation, familial, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 11	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 14	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 15	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 8	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Orphanet CTD, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome 1	Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiac arrhythmia	Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood absence epilepsy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCTION DISORDER OF THE HEART	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Death in early adulthood	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRAVET SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BUNDLE BRANCH SYSTEM DEFECT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FEBRILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myoclonic epilepsy in infancy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Undetermined early-onset epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelogenesis imperfecta nephrocalcinosis	Amelogenesis Imperfecta	BEFREE	30160358		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	30386899		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	18464934, 25253298, 27707468, 34583279, 35752364, 38139087	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	19808477, 23604097, 26129877, 30821358		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	20558140, 38139087	Associate	★☆☆☆☆ Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	19808477		★☆☆☆☆ Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 13	Atrial Fibrillation	GENOMICS_ENGLAND_DG	16301704, 27761167		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 13	Atrial Fibrillation	UNIPROT_DG	19808477		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 13	Atrial Fibrillation	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 13	Atrial Fibrillation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical absence seizure	Absence Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33901312	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24729314		★☆☆☆☆ Found in Text Mining only
Brugada syndrome	Brugada Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome	Brugada syndrome	Pubtator	25253298, 27707468, 31627867, 34034907, 34583279	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	18464934, 19808477, 25253298, 29758173, 30660056		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	18464934, 22155597, 22155598, 25253298, 25772295, 26179811, 28217227		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	CTD_human_DG	22155597		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 1	Brugada Syndrome	CLINGEN_DG	18464934, 22155597, 22155598, 25253298, 25772295, 26179811, 28217227		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome 1	Brugada Syndrome	CTD_human_DG	22155597		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome 5	Brugada Syndrome	CLINVAR_DG	12011299, 17020904, 27277800, 28331474, 5421039, 9697698		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brugada Syndrome 5	Brugada Syndrome	GENOMICS_ENGLAND_DG	16301704, 18464934, 25426816, 27761167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brugada Syndrome 5	Brugada Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bundle-Branch Block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	CLINGEN_DG	18464934, 22155597, 22155598, 25253298, 25772295, 26179811, 28217227		★☆☆☆☆ Found in Text Mining only
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	38139087	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32207560	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	22693452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dravet syndrome	Dravet Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	23148524, 28102593, 28681755, 30921204, 31709768, 34583279	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	21882141		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	12083760, 15618878, 16806834, 16884893, 17020904, 19710327, 21994374, 25362483, 29466837		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29056246, 29466837, 34583279, 35752364, 35801810, 36288729, 40191585	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	14738422, 36374051	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	BEFREE	17049761		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	10923035, 11823106, 11866477, 18175077, 26060908, 29992740, 9697698		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	12011299, 12486163		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	17020904		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28218389, 31465153, 31709768		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31709768, 36571524	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	17049761, 19710327, 21531204, 23148524, 23182416, 28681755, 30921204, 30996233, 31465153, 31709768		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	16301704, 27761167, 9697698		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52	Epileptic encephalopathy	UNIPROT_DG	19710327, 23148524		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	10923035		★☆☆☆☆ Found in Text Mining only
Familial progressive cardiac conduction defect	Progressive Cardiac Conduction Defect	Orphanet			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	12011299, 21040232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	LHGDN	12011299, 12486163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	CTD_human_DG	25362483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	31729702	Associate	★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	21882141		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	BEFREE	10587582, 10923035, 11888238, 14738422, 15857929, 16525050, 16806834, 17020904, 17927801, 21040232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	10486327, 11254444, 14738422, 15827091, 35886038, 36288729	Associate	★☆☆☆☆ Found in Text Mining only
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1	Epilepsy With Febrile Seizures Plus	GENOMICS_ENGLAND_DG	16301704, 18464934, 27761167, 9697698		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1	Epilepsy With Febrile Seizures Plus	UNIPROT_DG	17928445, 21040232, 9697698		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1	Epilepsy With Febrile Seizures Plus	BEFREE	31465153		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1	Epilepsy With Febrile Seizures Plus	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1	Epilepsy With Febrile Seizures Plus	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized epilepsy with febrile seizures-plus	Epilepsy With Febrile Seizures Plus	Orphanet			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31709768	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	18464934, 32529721, 35205305	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary bundle branch system defect	Hereditary Bundle Branch System Defect	ORPHANET_DG	18464934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	38139087	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	30386899		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12083760, 16806834, 17049761, 19710327, 21531204, 23148524, 23182416, 28681755, 30921204, 30996233, 31465153, 31709768		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	19710327, 21463275, 23093055, 23148524		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	34034907	Associate	★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle syndrome	Pubtator	38013303	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	18052691, 24662403		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long qt syndrome	Pubtator	18052691, 34583279	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant neoplasm of breast	Breast Cancer	BEFREE	24729314		★☆☆☆☆ Found in Text Mining only
Obtundation status	Obtundation status	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	BEFREE	17049761		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Complex	Seizure	CTD_human_DG	25362483		★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Simple	Seizure	CTD_human_DG	25362483		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31709768	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	12086636, 19292758, 34583279	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	CLINGEN_DG	18464934, 22155597, 22155598, 25253298, 25772295, 26179811, 28217227		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	31709768	Associate	★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
X-linked infantile spasms	Spasms X-Linked	BEFREE	31709768		★☆☆☆☆ Found in Text Mining only