SCN10A (sodium voltage-gated channel alpha subunit 10)

Gene

• Entrez ID: 6336
• Gene name: Sodium voltage-gated channel alpha subunit 10
• Gene symbol: SCN10A
• Synonyms (NCBI Gene): FEPS2, Nav1.8, PN3, SNS
• Chromosome: 3
• Chromosome location: 3p22.2
• Summary: The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138404783	A>G	Pathogenic, uncertain-significance, likely-benign	Missense variant, intron variant, coding sequence variant
rs141810266	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142173735	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs142235256	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145032037	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145694222	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146151670	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs150923753	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs151090729	C>T	Likely-benign, benign, likely-pathogenic	Coding sequence variant, missense variant
rs202174472	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs757294772	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1559414131	AGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant

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	9839820
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002027	Process	Regulation of heart rate	IMP	20062061, 21041692
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	9839820
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	23115331
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA	23115331
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007600	Process	Sensory perception	TAS	9839820
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IDA	9839820
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	9839820
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	24998131
GO:0055085	Process	Transmembrane transport	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	20062061
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IMP	20062061, 21041692
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071439	Component	Clathrin complex	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086010	Process	Membrane depolarization during action potential	IEA
GO:0086010	Process	Membrane depolarization during action potential	IMP	23115331
GO:0086016	Process	AV node cell action potential	IEA
GO:0086016	Process	AV node cell action potential	IMP	24998131
GO:0086043	Process	Bundle of His cell action potential	IEA
GO:0086043	Process	Bundle of His cell action potential	IMP	24998131
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA

Other IDs

• MIM: 604427
• HGNC: 10582
• e!Ensembl: ENSG00000185313

Protein

• UniProt ID: Q9Y5Y9
• Protein name: Sodium channel protein type 10 subunit alpha (Peripheral nerve sodium channel 3) (PN3) (hPN3) (Sodium channel protein type X subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.8)
• Protein function: Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-sele
• PDB: 7WE4, 7WEL, 7WFR, 7WFW, 9DBK, 9DBL, 9DBM, 9DBN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	129 → 408	Ion transport protein	Family
  PF00520	Ion_trans	664 → 899	Ion transport protein	Family
  PF06512	Na_trans_assoc	904 → 1147	Sodium ion transport-associated	Family
  PF00520	Ion_trans	1151 → 1429	Ion transport protein	Family
  PF00520	Ion_trans	1475 → 1733	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the dorsal root ganglia and sciatic nerve. {ECO:0000269|PubMed:9839820}.
• Sequence:

  MEFPIGSLETNNFRRFTPESLVEIEKQIAAKQGTKKAREKHREQKDQEEKPRPQLDLKAC
  NQLPKFYGELPAELIGEPLEDLDPFYSTHRTFMVLNKGRTISRFSATRALWLFSPFNLIR
  RTAIKVSVHSWFSLFITVTILVNCVCMTRTDLPEKIEYVFTVIYTFEALIKILARGFCLN
  EFTYLRDPWNWLDFSVITLAYVGTAIDLRGISGLRTFRVLRALKTVSVIPGLKVIVGALI
  HSVKKLADVTILTIFCLSVFALVGLQLFKGNLKNKCVKNDMAVNETTNYSSHRKPDIYIN
  KRGTSDPLLCGNGSDSGHCPDGYICLKTSDNPDFNYTSFDSFAWAFLSLFRLMTQDSWER
  LYQQTLRTSGKIYMIFFVLVIFLGSFYLVNLILAVVTMAYEEQNQATTDEIEAKEKKFQE
  ALEMLRKEQEVLAALGIDTTSLHSHNGSPLTSKNASERRHRIKPRVSEGSTEDNKSPRSD
  PYNQRRMSFLGLASGKRRASHGSVFHFRSPGRDISLPEGVTDDGVFPGDHESHRGSLLLG
  GGAGQQGPLPRSPLPQPSNPDSRHGEDEHQPPPTSELAPGAVDVSAFDAGQKKTFLSAEY
  LDEPFRAQRAMSVVSIITSVLEELEESEQKCPPCLTSLSQKYLIWDCCPMWVKLKTILFG
  LVTDPFAELTITLCIVVNTIFMAMEHHGMSPTFEAMLQIGNIVFTIFFTAEMVFKIIAFD
  PYYYFQKKWNIFDCIIVTVSLLELGVAKKGSLSVLRSFRLLRVFKLAKSWPTLNTLIKII
  GNSVGALGNLTIILAIIVFVFALVGKQLLGENYRNNRKNISAPHEDWPRWHMHDFFHSFL
  IVFRILCGEWIENMWACMEVGQKSICLILFLTVMVLGNLVVLNLFIALLLNSFSADNLTA
  PEDDGEVNNLQVALARIQVFGHRTKQALCSFFSRSCPFPQPKAEPELVVKLPLSSSKAEN
  HIAANTARGSSGGLQAPRGPRDEHSDFIANPTVWVSVPIAEGESDLDDLEDDGGEDAQSF
  QQEVIPKGQQEQLQQVERCGDHLTPRSPGTGTSSEDLAPSLGETWKDESVPQVPAEGVDD
  TSSSEGSTVDCLDPEEILRKIPELADDLEEPDDCFTEGCIRHCPCCKLDTTKSPWDVGWQ
  VRKTCYRIVEHSWFESFIIFMILLSSGSLAFEDYYLDQKPTVKALLEYTDRVFTFIFVFE
  MLLKWVAYGFKKYFTNAWCWLDFLIVNISLISLTAKILEYSEVAPIKALRTLRALRPLRA
  LSRFEGMRVVVDALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFWRCINYTDGEFSL
  VPLSIVNNKSDCKIQNSTGSFFWVNVKVNFDNVAMGYLALLQVATFKGWMDIMYAAVDSR
  EVNMQPKWEDNVYMYLYFVIFIIFGGFFTLNLFVGVIIDNFNQQKKKLGGQDIFMTEEQK
  KYYNAMKKLGSKKPQKPIPRPLNKFQGFVFDIVTRQAFDITIMVLICLNMITMMVETDDQ
  SEEKTKILGKINQFFVAVFTGECVMKMFALRQYYFTNGWNVFDFIVVVLSIASLIFSAIL
  KSLQSYFSPTLFRVIRLARIGRILRLIRAAKGIRTLLFALMMSLPALFNIGLLLFLVMFI
  YSIFGMSSFPHVRWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDP
  NLPNSNGTRGDCGSPAVGIIFFTTYIIISFLIMVNMYIAVILENFNVATEESTEPLSEDD
  FDMFYETWEKFDPEATQFITFSALSDFADTLSGPLRIPKPNRNILIQMDLPLVPGDKIHC
  LDILFAFTKNVLGESGELDSLKANMEEKFMATNLSKSSYEPIATTLRWKQEDISATVIQK
  AYRSYVLHRSMALSNTPCVPRAEEEAASLPDEGFVAFTANENCVLPDKSETASATSFPPS
  YESVTRGLSDRVNMRTSSSIQNEDEATSMELIAPGP

• Sequence length: 1956

Pathways

Reactome:

Phase 0 - rapid depolarisation

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
Brugada syndrome	Likely pathogenic	rs1559414131	RCV000678916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR BLOCK	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL INSENSITIVITY TO PAIN-ANOSMIA-NEUROPATHIC ARTHROPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic pain syndrome, familial, 2	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL SICK SINUS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary sodium channelopathy-related small fibers neuropathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired temperature sensation	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL EXTREME PAIN DISORDER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ERYTHROMELALGIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN10A-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30768955		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	21646736, 23463857, 32330377, 33948580, 37122207, 37373335	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	26733327		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	26733327	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29652832		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30407862		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36395102	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	20062060, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	20062060, 23463857, 24072447, 24667784, 25053638, 25691686, 26733327, 27725708, 28281580, 28407228, 28464817, 31539150, 33350184	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	20062063, 23463857, 24072447, 24667784, 25053638, 25691686, 27725708, 28281580		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	24667784	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	BEFREE	20062063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	34356069, 36140801	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	24667784, 24998131, 25691538, 26733327, 32490690, 33164571, 33948580, 34312669, 37373335	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada syndrome	Brugada Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	22723299, 24642470, 24998131, 25691538, 25842276, 27272739, 27806966, 9839820		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	23872634, 24642470, 24667784, 24998131, 25691538, 25842276, 26733327, 27272739, 30910390, 31106349, 31195250		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	GWASDB_DG	23872634		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	GWASCAT_DG	23872634		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	CTD_human_DG	23872634		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	ORPHANET_DG	24998131, 25691538		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 1	Brugada Syndrome	CLINGEN_DG	22723299, 24642470, 24998131, 25691538, 25842276, 27272739, 27806966, 9839820		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome 1	Brugada Syndrome	CTD_human_DG	23872634		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bundle Branch Block	Bundle branch block	Pubtator	26104176	Associate	★☆☆☆☆ Found in Text Mining only
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	CLINGEN_DG	22723299, 24642470, 24998131, 25691538, 25842276, 27272739, 27806966, 9839820		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	26104176	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25691686		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	26740675		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	26740675	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28844335		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	27598514	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	28530638	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39729348	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30602616		★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	22693452, 24642470, 30177317		★☆☆☆☆ Found in Text Mining only
Congenital Pain Insensitivity	Congenital Pain Insensitivity	BEFREE	24813307		★☆☆☆☆ Found in Text Mining only
Congenital Pain Insensitivity	Congenital Pain Insensitivity	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28844335		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	39729348	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29453010		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30361814		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30361814		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPISODIC PAIN SYNDROME, FAMILIAL, 2	Episodic Pain Syndrome	GENOMICS_ENGLAND_DG	16301704, 25250524, 25316021, 27761167		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPISODIC PAIN SYNDROME, FAMILIAL, 2	Episodic Pain Syndrome	UNIPROT_DG	23115331		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPISODIC PAIN SYNDROME, FAMILIAL, 2	Episodic Pain Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPISODIC PAIN SYNDROME, FAMILIAL, 2	Episodic Pain Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Erythromelalgia	Erythromelalgia	BEFREE	27598514		★☆☆☆☆ Found in Text Mining only
Erythromelalgia	Erythromelalgia	Pubtator	27598514	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	16181122		★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	26194361	Associate	★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	26711856		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35797221	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	CTD_human_DG	20062061		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	21646736, 26104176		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	26733327		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26733327	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22447844		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 5	Hereditary sensory and autonomic neuropathy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	30663199		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30361814		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16181122, 26103132, 28551830, 30894696		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26104176		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26104176		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	30378291	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	30378291	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30538988, 31327175		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	39729348	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	29992996		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23415012, 31115744		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28427193		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	27988371, 28407228	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	28407228		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32246154	Associate	★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	20663900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28440486		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26660542		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24362439, 29901072, 31526394		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	20663900		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32241263	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29453010		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30047786		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26740675		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	26740675	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32330377	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30602616, 31526394		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	29992996		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27517323, 30515222		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26103132, 28551830, 30466186		★☆☆☆☆ Found in Text Mining only
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	28530638	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28440486		★☆☆☆☆ Found in Text Mining only
Paresthesia	Paresthesia	Pubtator	24144460	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	20062060, 29892015, 30061737		★☆☆☆☆ Found in Text Mining only
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal extreme pain disorder	Paroxysmal extreme pain disorder	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	23821303	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Erythermalgia	Erythermalgia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Primary erythromelalgia	Erythromelalgia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	28407228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	30621637		★☆☆☆☆ Found in Text Mining only
SHORT syndrome	Short syndrome	Pubtator	29016797	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	30704383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	33580673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	CLINGEN_DG	22723299, 24642470, 24998131, 25691538, 25842276, 27272739, 27806966, 9839820		★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	24813307, 28665811, 30731422		★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	GENOMICS_ENGLAND_DG	25250524, 25316021		★☆☆☆☆ Found in Text Mining only
Sodium channelopathy-related small fiber neuropathy	Sodium Channelopathy-Related Small Fiber Neuropathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26660542		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26660542		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	31928344	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31526394		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	21646736		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	CTD_human_DG	20062061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Premature Complexes	Ventricular ectopy	Pubtator	37122207	Associate	★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	31382203		★☆☆☆☆ Found in Text Mining only