KCNE3 (potassium voltage-gated channel subfamily E regulatory subunit 3)

Gene

• Entrez ID: 10008
• Gene name: Potassium voltage-gated channel subfamily E regulatory subunit 3
• Gene symbol: KCNE3
• Synonyms (NCBI Gene): BRGDA6, HOKPP, HYPP, MiRP2
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17215437	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs121908441	C>T	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs200856070	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT522918	hsa-miR-1247-3p	PAR-CLIP	23446348
MIRT522917	hsa-miR-6134	PAR-CLIP	23446348
MIRT522916	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT522915	hsa-miR-3689d	PAR-CLIP	23446348
MIRT522914	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT522913	hsa-miR-6799-5p	PAR-CLIP	23446348
MIRT522912	hsa-miR-6835-5p	PAR-CLIP	23446348
MIRT522911	hsa-miR-6752-5p	PAR-CLIP	23446348
MIRT522909	hsa-miR-6842-5p	PAR-CLIP	23446348
MIRT522910	hsa-miR-7110-5p	PAR-CLIP	23446348
MIRT522908	hsa-miR-92a-2-5p	PAR-CLIP	23446348
MIRT522907	hsa-miR-4447	PAR-CLIP	23446348
MIRT522906	hsa-miR-4472	PAR-CLIP	23446348
MIRT522905	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT522904	hsa-miR-455-3p	PAR-CLIP	23446348
MIRT522903	hsa-miR-1273e	PAR-CLIP	23446348
MIRT522902	hsa-miR-6751-5p	PAR-CLIP	23446348
MIRT522901	hsa-miR-6803-5p	PAR-CLIP	23446348
MIRT522900	hsa-miR-6516-5p	PAR-CLIP	23446348
MIRT522918	hsa-miR-1247-3p	PAR-CLIP	23446348
MIRT522917	hsa-miR-6134	PAR-CLIP	23446348
MIRT522916	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT522915	hsa-miR-3689d	PAR-CLIP	23446348
MIRT522914	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT522913	hsa-miR-6799-5p	PAR-CLIP	23446348
MIRT522912	hsa-miR-6835-5p	PAR-CLIP	23446348
MIRT522911	hsa-miR-6752-5p	PAR-CLIP	23446348
MIRT522909	hsa-miR-6842-5p	PAR-CLIP	23446348
MIRT522910	hsa-miR-7110-5p	PAR-CLIP	23446348
MIRT522908	hsa-miR-92a-2-5p	PAR-CLIP	23446348
MIRT522907	hsa-miR-4447	PAR-CLIP	23446348
MIRT522906	hsa-miR-4472	PAR-CLIP	23446348
MIRT522905	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT522904	hsa-miR-455-3p	PAR-CLIP	23446348
MIRT522903	hsa-miR-1273e	PAR-CLIP	23446348
MIRT522902	hsa-miR-6751-5p	PAR-CLIP	23446348
MIRT522901	hsa-miR-6803-5p	PAR-CLIP	23446348
MIRT522900	hsa-miR-6516-5p	PAR-CLIP	23446348
MIRT1080822	hsa-miR-122	CLIP-seq
MIRT1080823	hsa-miR-1224-3p	CLIP-seq
MIRT1080824	hsa-miR-1254	CLIP-seq
MIRT1080825	hsa-miR-125a-3p	CLIP-seq
MIRT1080826	hsa-miR-1284	CLIP-seq
MIRT1080827	hsa-miR-129-5p	CLIP-seq
MIRT1080828	hsa-miR-1297	CLIP-seq
MIRT1080829	hsa-miR-1303	CLIP-seq
MIRT1080830	hsa-miR-1827	CLIP-seq
MIRT1080831	hsa-miR-197	CLIP-seq
MIRT1080832	hsa-miR-2054	CLIP-seq
MIRT1080833	hsa-miR-26a	CLIP-seq
MIRT1080834	hsa-miR-26b	CLIP-seq
MIRT1080835	hsa-miR-300	CLIP-seq
MIRT1080836	hsa-miR-3116	CLIP-seq
MIRT1080837	hsa-miR-3119	CLIP-seq
MIRT1080838	hsa-miR-3122	CLIP-seq
MIRT1080839	hsa-miR-3128	CLIP-seq
MIRT1080840	hsa-miR-3135b	CLIP-seq
MIRT1080841	hsa-miR-3170	CLIP-seq
MIRT1080842	hsa-miR-3187-3p	CLIP-seq
MIRT1080843	hsa-miR-3194-3p	CLIP-seq
MIRT1080844	hsa-miR-3652	CLIP-seq
MIRT1080845	hsa-miR-3663-5p	CLIP-seq
MIRT1080846	hsa-miR-3672	CLIP-seq
MIRT1080847	hsa-miR-3689a-3p	CLIP-seq
MIRT1080848	hsa-miR-3689c	CLIP-seq
MIRT1080849	hsa-miR-381	CLIP-seq
MIRT1080850	hsa-miR-3913-5p	CLIP-seq
MIRT1080851	hsa-miR-3934	CLIP-seq
MIRT1080852	hsa-miR-4423-5p	CLIP-seq
MIRT1080853	hsa-miR-4430	CLIP-seq
MIRT1080854	hsa-miR-4435	CLIP-seq
MIRT1080855	hsa-miR-4440	CLIP-seq
MIRT1080856	hsa-miR-4454	CLIP-seq
MIRT1080857	hsa-miR-4465	CLIP-seq
MIRT1080858	hsa-miR-4474-3p	CLIP-seq
MIRT1080859	hsa-miR-4540	CLIP-seq
MIRT1080860	hsa-miR-4649-3p	CLIP-seq
MIRT1080861	hsa-miR-4666-3p	CLIP-seq
MIRT1080862	hsa-miR-4698	CLIP-seq
MIRT1080863	hsa-miR-4701-5p	CLIP-seq
MIRT1080864	hsa-miR-4716-5p	CLIP-seq
MIRT1080865	hsa-miR-4719	CLIP-seq
MIRT1080866	hsa-miR-4731-3p	CLIP-seq
MIRT1080867	hsa-miR-4755-3p	CLIP-seq
MIRT1080868	hsa-miR-4781-3p	CLIP-seq
MIRT1080869	hsa-miR-4786-5p	CLIP-seq
MIRT1080870	hsa-miR-4789-5p	CLIP-seq
MIRT1080871	hsa-miR-4795-3p	CLIP-seq
MIRT1080872	hsa-miR-4801	CLIP-seq
MIRT1080873	hsa-miR-498	CLIP-seq
MIRT1080874	hsa-miR-5096	CLIP-seq
MIRT1080875	hsa-miR-510	CLIP-seq
MIRT1080876	hsa-miR-512-5p	CLIP-seq
MIRT1080877	hsa-miR-548b-3p	CLIP-seq
MIRT1080878	hsa-miR-548s	CLIP-seq
MIRT1080879	hsa-miR-588	CLIP-seq
MIRT1080880	hsa-miR-649	CLIP-seq
MIRT1080881	hsa-miR-661	CLIP-seq
MIRT1080882	hsa-miR-759	CLIP-seq
MIRT1080883	hsa-miR-764	CLIP-seq
MIRT1080884	hsa-miR-802	CLIP-seq
MIRT1080885	hsa-miR-940	CLIP-seq
MIRT1080822	hsa-miR-122	CLIP-seq
MIRT1080823	hsa-miR-1224-3p	CLIP-seq
MIRT1080825	hsa-miR-125a-3p	CLIP-seq
MIRT1080831	hsa-miR-197	CLIP-seq
MIRT2020033	hsa-miR-1976	CLIP-seq
MIRT2020034	hsa-miR-217	CLIP-seq
MIRT1080840	hsa-miR-3135b	CLIP-seq
MIRT1080841	hsa-miR-3170	CLIP-seq
MIRT1080842	hsa-miR-3187-3p	CLIP-seq
MIRT1080843	hsa-miR-3194-3p	CLIP-seq
MIRT1080844	hsa-miR-3652	CLIP-seq
MIRT1080845	hsa-miR-3663-5p	CLIP-seq
MIRT1080851	hsa-miR-3934	CLIP-seq
MIRT2020035	hsa-miR-4279	CLIP-seq
MIRT2020036	hsa-miR-4418	CLIP-seq
MIRT1080853	hsa-miR-4430	CLIP-seq
MIRT1080854	hsa-miR-4435	CLIP-seq
MIRT1080856	hsa-miR-4454	CLIP-seq
MIRT2020037	hsa-miR-4691-3p	CLIP-seq
MIRT1080863	hsa-miR-4701-5p	CLIP-seq
MIRT1080864	hsa-miR-4716-5p	CLIP-seq
MIRT2020038	hsa-miR-4722-3p	CLIP-seq
MIRT1080867	hsa-miR-4755-3p	CLIP-seq
MIRT2020039	hsa-miR-4772-3p	CLIP-seq
MIRT1080868	hsa-miR-4781-3p	CLIP-seq
MIRT1080870	hsa-miR-4789-5p	CLIP-seq
MIRT1080871	hsa-miR-4795-3p	CLIP-seq
MIRT2020040	hsa-miR-509-3-5p	CLIP-seq
MIRT2020041	hsa-miR-509-5p	CLIP-seq
MIRT1080874	hsa-miR-5096	CLIP-seq
MIRT1080878	hsa-miR-548s	CLIP-seq
MIRT1080879	hsa-miR-588	CLIP-seq
MIRT1080883	hsa-miR-764	CLIP-seq
MIRT1080822	hsa-miR-122	CLIP-seq
MIRT1080823	hsa-miR-1224-3p	CLIP-seq
MIRT1080825	hsa-miR-125a-3p	CLIP-seq
MIRT2251884	hsa-miR-1270	CLIP-seq
MIRT2251885	hsa-miR-150	CLIP-seq
MIRT1080831	hsa-miR-197	CLIP-seq
MIRT2020033	hsa-miR-1976	CLIP-seq
MIRT2020034	hsa-miR-217	CLIP-seq
MIRT1080840	hsa-miR-3135b	CLIP-seq
MIRT1080841	hsa-miR-3170	CLIP-seq
MIRT1080842	hsa-miR-3187-3p	CLIP-seq
MIRT1080843	hsa-miR-3194-3p	CLIP-seq
MIRT1080844	hsa-miR-3652	CLIP-seq
MIRT1080845	hsa-miR-3663-5p	CLIP-seq
MIRT1080851	hsa-miR-3934	CLIP-seq
MIRT2251886	hsa-miR-411	CLIP-seq
MIRT2020035	hsa-miR-4279	CLIP-seq
MIRT2020036	hsa-miR-4418	CLIP-seq
MIRT1080853	hsa-miR-4430	CLIP-seq
MIRT1080854	hsa-miR-4435	CLIP-seq
MIRT1080856	hsa-miR-4454	CLIP-seq
MIRT2251887	hsa-miR-4532	CLIP-seq
MIRT2251888	hsa-miR-4646-5p	CLIP-seq
MIRT2251889	hsa-miR-4683	CLIP-seq
MIRT2251890	hsa-miR-4685-5p	CLIP-seq
MIRT1080863	hsa-miR-4701-5p	CLIP-seq
MIRT1080864	hsa-miR-4716-5p	CLIP-seq
MIRT2020038	hsa-miR-4722-3p	CLIP-seq
MIRT2251891	hsa-miR-4733-3p	CLIP-seq
MIRT1080867	hsa-miR-4755-3p	CLIP-seq
MIRT2020039	hsa-miR-4772-3p	CLIP-seq
MIRT1080868	hsa-miR-4781-3p	CLIP-seq
MIRT2020040	hsa-miR-509-3-5p	CLIP-seq
MIRT2020041	hsa-miR-509-5p	CLIP-seq
MIRT1080874	hsa-miR-5096	CLIP-seq
MIRT1080878	hsa-miR-548s	CLIP-seq
MIRT2251892	hsa-miR-562	CLIP-seq
MIRT1080879	hsa-miR-588	CLIP-seq
MIRT2251893	hsa-miR-620	CLIP-seq
MIRT1080883	hsa-miR-764	CLIP-seq
MIRT2020034	hsa-miR-217	CLIP-seq
MIRT2020036	hsa-miR-4418	CLIP-seq
MIRT2020039	hsa-miR-4772-3p	CLIP-seq
MIRT2020040	hsa-miR-509-3-5p	CLIP-seq
MIRT2020041	hsa-miR-509-5p	CLIP-seq
MIRT1080822	hsa-miR-122	CLIP-seq
MIRT2251885	hsa-miR-150	CLIP-seq
MIRT2555145	hsa-miR-1914	CLIP-seq
MIRT2020033	hsa-miR-1976	CLIP-seq
MIRT2020034	hsa-miR-217	CLIP-seq
MIRT1080840	hsa-miR-3135b	CLIP-seq
MIRT2555146	hsa-miR-3613-3p	CLIP-seq
MIRT1080844	hsa-miR-3652	CLIP-seq
MIRT2555147	hsa-miR-371-5p	CLIP-seq
MIRT2555148	hsa-miR-371b-5p	CLIP-seq
MIRT2020035	hsa-miR-4279	CLIP-seq
MIRT2020036	hsa-miR-4418	CLIP-seq
MIRT1080853	hsa-miR-4430	CLIP-seq
MIRT2251887	hsa-miR-4532	CLIP-seq
MIRT2020038	hsa-miR-4722-3p	CLIP-seq
MIRT2555149	hsa-miR-4797-5p	CLIP-seq
MIRT2555150	hsa-miR-483-3p	CLIP-seq
MIRT2020040	hsa-miR-509-3-5p	CLIP-seq
MIRT2020041	hsa-miR-509-5p	CLIP-seq
MIRT1080822	hsa-miR-122	CLIP-seq
MIRT2555145	hsa-miR-1914	CLIP-seq
MIRT2020033	hsa-miR-1976	CLIP-seq
MIRT2020034	hsa-miR-217	CLIP-seq
MIRT1080840	hsa-miR-3135b	CLIP-seq
MIRT2555146	hsa-miR-3613-3p	CLIP-seq
MIRT1080844	hsa-miR-3652	CLIP-seq
MIRT2555147	hsa-miR-371-5p	CLIP-seq
MIRT2555148	hsa-miR-371b-5p	CLIP-seq
MIRT2020035	hsa-miR-4279	CLIP-seq
MIRT2020036	hsa-miR-4418	CLIP-seq
MIRT1080853	hsa-miR-4430	CLIP-seq
MIRT2251887	hsa-miR-4532	CLIP-seq
MIRT2020038	hsa-miR-4722-3p	CLIP-seq
MIRT2020039	hsa-miR-4772-3p	CLIP-seq
MIRT2555149	hsa-miR-4797-5p	CLIP-seq
MIRT2555150	hsa-miR-483-3p	CLIP-seq
MIRT2020040	hsa-miR-509-3-5p	CLIP-seq
MIRT2020041	hsa-miR-509-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005515	Function	Protein binding	IPI	20533308
GO:0005737	Component	Cytoplasm	IDA	12954870
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IPI	10646604
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	12954870
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IDA	12954870
GO:0015459	Function	Potassium channel regulator activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IDA	12954870
GO:0030425	Component	Dendrite	IEA
GO:0030644	Process	Intracellular chloride ion homeostasis	IEA
GO:0031982	Component	Vesicle	IDA	10646604
GO:0032809	Component	Neuronal cell body membrane	IDA	12954870
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IDA	12954870
GO:0043204	Component	Perikaryon	IEA
GO:0043266	Process	Regulation of potassium ion transport	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0045121	Component	Membrane raft	IDA	20533308
GO:0045121	Component	Membrane raft	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IBA
GO:0086011	Process	Membrane repolarization during action potential	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	22987075
GO:0097623	Process	Potassium ion export across plasma membrane	IBA
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IDA	12954870
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA
GO:1903765	Process	Negative regulation of potassium ion export across plasma membrane	IDA	22987075
GO:1905025	Process	Negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential	IMP	22987075
GO:1990794	Component	Basolateral part of cell	IEA

Other IDs

• MIM: 604433
• HGNC: 6243
• e!Ensembl: ENSG00000175538

Protein

• UniProt ID: Q9Y6H6
• Protein name: Potassium voltage-gated channel subfamily E member 3 (MinK-related peptide 2) (MiRP2) (Minimum potassium ion channel-related peptide 2) (Potassium channel subunit beta MiRP2)
• Protein function: Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE3 beta subunit modulates the gatin
• PDB: 2NDJ, 6V00, 6V01
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02060	ISK_Channel	20 → 100	Slow voltage-gated potassium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in hippocampal neurons (at protein level) (PubMed:12954870). Widely expressed with highest levels in kidney and moderate levels in small intestine. {ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:12954870}.
• Sequence:

  METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMY
  ILFVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI

• Sequence length: 103

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Phase 3 - rapid repolarisation
Phase 2 - plateau phase

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Brugada syndrome	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar ClinGen, Orphanet ClinGen, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome 6	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNE3-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prolonged QT interval	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Cortical Adenoma	Adrenocortical adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	16027256, 17276182, 18209471, 24796621		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	18209471		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	21924735, 21967835	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	19122847, 21967835, 31627867	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome	Brugada Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	15698834, 19122847, 22987075		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	19122847		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	GENOMICS_ENGLAND_DG	19306396		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 6	Brugada Syndrome	GENOMICS_ENGLAND_DG	16301704, 27761167		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome 6	Brugada Syndrome	CLINVAR_DG	19306396, 22987075		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome 6	Brugada Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	27716384	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	26718405	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37535601	Associate	★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	27716384	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	26718405	Associate	★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	BEFREE	11207363, 14504341, 15037716, 16449802		★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21967835	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	ORPHANET_DG	14504341, 15037713		★☆☆☆☆ Found in Text Mining only
Hyperkalemic periodic paralysis	Hyperkalemic Periodic Paralysis	BEFREE	1659948, 17395131, 8388676		★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	12414843		★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	ORPHANET_DG	14504341, 15037713		★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	BEFREE	12414843		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	19306396		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long QT Syndrome	GENOMICS_ENGLAND_DG	19306396		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long qt syndrome	Pubtator	21967835	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meniere Disease	Meniere Disease	BEFREE	20034061		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	31058602	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27716384		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17595326		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	BEFREE	8388676		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodic hypokalemic paresis	Periodic hypokalemic paresis	HPO_DG			★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	BEFREE	11207363, 14504341, 15037716, 16449802		★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	17917308		★☆☆☆☆ Found in Text Mining only
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	BEFREE	15212652		★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	27716384	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations