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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	3753
Gene name	Potassium voltage-gated channel subfamily E regulatory subunit 1
Gene symbol	KCNE1
Synonyms (NCBI Gene)	ISKJLNSJLNS2LQT2/5LQT5MinK
Chromosome	21
Chromosome location	21q22.12
Summary	The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805128	C>T	Pathogenic, risk-factor, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, other	Missense variant, coding sequence variant
rs28933384	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs74315445	C>T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs74315446	G>A,C	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs79654911	C>A,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs142511345	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs149338401	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199473351	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs199473362	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic, not-provided	Synonymous variant, missense variant, coding sequence variant
rs199473645	G>A,C,T	Uncertain-significance, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs281865421	CAGGGT>AGGGGG	Pathogenic	Missense variant, coding sequence variant
rs747321794	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs750349088	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs758346045	G>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs779124360	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064793159	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691762	->A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1244688796	C>T	Pathogenic	Stop gained, coding sequence variant
rs1402178514	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555843953	TGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568835906	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1568836457	CAGGGTGAAGAAGCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1601044831	->G	Pathogenic	Frameshift variant, coding sequence variant

113

Show/Hide all (113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002924	hsa-miR-1-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assayWestern blot	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assayWestern blot	17443681
MIRT002924	hsa-miR-1-3p	qRT-PCR	21169019
MIRT038264	hsa-miR-361-3p	CLASH	23622248
MIRT1080751	hsa-miR-1262	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT1080753	hsa-miR-1293	CLIP-seq
MIRT1080754	hsa-miR-2110	CLIP-seq
MIRT1080755	hsa-miR-2392	CLIP-seq
MIRT1080756	hsa-miR-3124-3p	CLIP-seq
MIRT1080757	hsa-miR-3148	CLIP-seq
MIRT1080758	hsa-miR-3159	CLIP-seq
MIRT1080759	hsa-miR-326	CLIP-seq
MIRT1080760	hsa-miR-330-5p	CLIP-seq
MIRT1080761	hsa-miR-3690	CLIP-seq
MIRT1080762	hsa-miR-3944-5p	CLIP-seq
MIRT1080763	hsa-miR-4254	CLIP-seq
MIRT1080764	hsa-miR-4270	CLIP-seq
MIRT1080765	hsa-miR-4271	CLIP-seq
MIRT1080766	hsa-miR-4441	CLIP-seq
MIRT1080767	hsa-miR-4460	CLIP-seq
MIRT1080768	hsa-miR-4462	CLIP-seq
MIRT1080769	hsa-miR-4483	CLIP-seq
MIRT1080770	hsa-miR-4638-3p	CLIP-seq
MIRT1080771	hsa-miR-4668-5p	CLIP-seq
MIRT1080772	hsa-miR-4701-3p	CLIP-seq
MIRT1080773	hsa-miR-4722-5p	CLIP-seq
MIRT1080774	hsa-miR-4725-3p	CLIP-seq
MIRT1080775	hsa-miR-4727-3p	CLIP-seq
MIRT1080776	hsa-miR-4742-5p	CLIP-seq
MIRT1080777	hsa-miR-4761-5p	CLIP-seq
MIRT1080778	hsa-miR-491-5p	CLIP-seq
MIRT1080779	hsa-miR-576-3p	CLIP-seq
MIRT1080780	hsa-miR-1181	CLIP-seq
MIRT1080781	hsa-miR-1183	CLIP-seq
MIRT1080782	hsa-miR-1202	CLIP-seq
MIRT1080783	hsa-miR-1265	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT1080784	hsa-miR-145	CLIP-seq
MIRT1080785	hsa-miR-146b-3p	CLIP-seq
MIRT1080786	hsa-miR-183	CLIP-seq
MIRT1080787	hsa-miR-198	CLIP-seq
MIRT1080788	hsa-miR-200b	CLIP-seq
MIRT1080789	hsa-miR-200c	CLIP-seq
MIRT1080790	hsa-miR-3140-3p	CLIP-seq
MIRT1080791	hsa-miR-323b-3p	CLIP-seq
MIRT1080792	hsa-miR-330-3p	CLIP-seq
MIRT1080793	hsa-miR-3622b-5p	CLIP-seq
MIRT1080794	hsa-miR-3657	CLIP-seq
MIRT1080795	hsa-miR-3909	CLIP-seq
MIRT1080796	hsa-miR-3972	CLIP-seq
MIRT1080797	hsa-miR-4252	CLIP-seq
MIRT1080798	hsa-miR-4279	CLIP-seq
MIRT1080799	hsa-miR-429	CLIP-seq
MIRT1080800	hsa-miR-4328	CLIP-seq
MIRT1080801	hsa-miR-4436a	CLIP-seq
MIRT1080802	hsa-miR-4514	CLIP-seq
MIRT1080803	hsa-miR-4645-5p	CLIP-seq
MIRT1080804	hsa-miR-4646-5p	CLIP-seq
MIRT1080805	hsa-miR-4669	CLIP-seq
MIRT1080806	hsa-miR-4673	CLIP-seq
MIRT1080807	hsa-miR-4690-3p	CLIP-seq
MIRT1080808	hsa-miR-4691-5p	CLIP-seq
MIRT1080809	hsa-miR-4692	CLIP-seq
MIRT1080810	hsa-miR-4733-5p	CLIP-seq
MIRT1080811	hsa-miR-4747-5p	CLIP-seq
MIRT1080812	hsa-miR-4755-3p	CLIP-seq
MIRT1080813	hsa-miR-4764-5p	CLIP-seq
MIRT1080814	hsa-miR-486-5p	CLIP-seq
MIRT1080815	hsa-miR-520d-5p	CLIP-seq
MIRT1080816	hsa-miR-524-5p	CLIP-seq
MIRT1080779	hsa-miR-576-3p	CLIP-seq
MIRT1080817	hsa-miR-586	CLIP-seq
MIRT1080818	hsa-miR-602	CLIP-seq
MIRT1080819	hsa-miR-940	CLIP-seq
MIRT2020018	hsa-miR-4446-5p	CLIP-seq
MIRT2020019	hsa-miR-4755-5p	CLIP-seq
MIRT2020020	hsa-miR-642a	CLIP-seq
MIRT2251872	hsa-miR-1	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT2251873	hsa-miR-206	CLIP-seq
MIRT2251874	hsa-miR-3125	CLIP-seq
MIRT2251875	hsa-miR-3916	CLIP-seq
MIRT1080797	hsa-miR-4252	CLIP-seq
MIRT1080801	hsa-miR-4436a	CLIP-seq
MIRT1080802	hsa-miR-4514	CLIP-seq
MIRT1080803	hsa-miR-4645-5p	CLIP-seq
MIRT1080804	hsa-miR-4646-5p	CLIP-seq
MIRT1080806	hsa-miR-4673	CLIP-seq
MIRT2251876	hsa-miR-4691-3p	CLIP-seq
MIRT1080809	hsa-miR-4692	CLIP-seq
MIRT2251877	hsa-miR-4712-3p	CLIP-seq
MIRT1080811	hsa-miR-4747-5p	CLIP-seq
MIRT2251878	hsa-miR-532-5p	CLIP-seq
MIRT2251879	hsa-miR-613	CLIP-seq
MIRT1080819	hsa-miR-940	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq
MIRT1080808	hsa-miR-4691-5p	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq

Show/Hide all (67)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002070	Process	Epithelial cell maturation	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	9230439
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	17289006
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	8900283, 9354802, 10400998, 11299204, 12522251, 19646991
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	24269949
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	9230439, 11101505, 11697903, 19521339, 20196769, 20533308, 25037568
GO:0005764	Component	Lysosome	HDA	16780588
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IDA	19219384
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9020846
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IC	8900283
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	17289006, 19219384, 19646991
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IPI	19521339
GO:0009986	Component	Cell surface	IDA	10400998
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IDA	8900283, 10400998, 11220365, 12522251, 19219384
GO:0015459	Function	Potassium channel regulator activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0021750	Process	Vestibular nucleus development	IEA
GO:0030018	Component	Z disc	ISS	11697903
GO:0031433	Function	Telethonin binding	IPI	11697903
GO:0033363	Process	Secretory granule organization	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	17289006
GO:0043266	Process	Regulation of potassium ion transport	IDA	9230439
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0045121	Component	Membrane raft	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	9354802
GO:0071320	Process	Cellular response to cAMP	IDA	11299204
GO:0071805	Process	Potassium ion transmembrane transport	IDA	8900283, 9354802, 11299204
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	10400998
GO:0086003	Process	Cardiac muscle cell contraction	NAS	31834838
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IBA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	9354802
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IDA	10400998
GO:0086009	Process	Membrane repolarization	IDA	8900283
GO:0086011	Process	Membrane repolarization during action potential	IBA
GO:0086011	Process	Membrane repolarization during action potential	IDA	8900283, 11299204, 19646991
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IDA	8900283
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IMP	10400998
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	NAS	31834838
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IEA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	10400998
GO:0090315	Process	Negative regulation of protein targeting to membrane	ISS
GO:0097623	Process	Potassium ion export across plasma membrane	IBA
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	8900283, 10400998, 17289006, 31834838
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	9354802
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	10400998
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	8900283
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IDA	19219384
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	9354802

MIM	HGNC	e!Ensembl
176261	6240	ENSG00000180509

P15382

Protein name

Potassium voltage-gated channel subfamily E member 1 (Delayed rectifier potassium channel subunit IsK) (IKs producing slow voltage-gated potassium channel subunit beta Mink) (Minimal potassium channel) (MinK)

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. KCNE1 beta subunit modulates the gatin

PDB

2K21

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02060	ISK_Channel	2 → 126	Slow voltage-gated potassium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed:19219384). Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane po

Sequence

MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLG
IMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNT
HLPETKPSP

Sequence length

129

Interactions

View interactions

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2123459914, rs1131691762, rs1555843898	RCV005652713 RCV002383948 RCV005652386	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital long QT syndrome	Pathogenic	rs199473354, rs28933384	RCV000119066 RCV000119076	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hearing loss and deafness	Pathogenic	rs1601044831	RCV001003417	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jervell and Lange-Nielsen syndrome 2	Likely pathogenic; Pathogenic	rs281865421, rs28933384, rs1131691762, rs758346045, rs1244688796, rs779124360	RCV000014417 RCV000014418 RCV002475977 RCV000659247 RCV000659249 RCV000659248 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome	Pathogenic; Likely pathogenic	rs2123460074, rs199473354, rs2123457833, rs281865421, rs1131691762, rs1555843898, rs1555843953, rs758346045, rs1244688796, rs1601044831	RCV001376771 RCV001384619 RCV001921004 RCV001244610 RCV000694374 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome 5	Pathogenic; Likely pathogenic	rs2123460074, rs199473354, rs750349088, rs281865421, rs28933384, rs1064793159, rs1131691762, rs758346045, rs1244688796, rs779124360, rs1568835906	RCV004779113 RCV004777579 RCV004777644 RCV002476967 RCV004777562 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs1244688796	RCV005420508	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

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.
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; other; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEARING DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Jervell and Lange-Nielsen syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Jervell and Lange-Nielsen syndrome 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JERVELL-LANGE NIELSEN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNE1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 2/5, digenic	Conflicting classifications of pathogenicity; other; risk factor	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 5, acquired, susceptibility to	Conflicting classifications of pathogenicity; other; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noise induced hearing loss	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic deafness	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (100)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amelogenesis imperfecta nephrocalcinosis	Amelogenesis Imperfecta	BEFREE	29395134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	15176421, 16818210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	35178459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	19019189, 19340287, 30461122, 31308327, 31337358, 33040543, 36921038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	17535562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	12228786, 14631130, 16027256, 16039273, 16887036, 17016049, 17165161, 19305639, 22250012, 22471742, 23020083, 23129484, 23874724, 24439990, 25366730 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	LHGDN	12228786		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	19305639, 21924735, 21967835, 22471742, 23020083, 25234231, 32164657, 38139087	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	22471742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	BEFREE	31481236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	21967835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	23890619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	38139087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	16132053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	17384445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	10688323, 11104743, 15023549, 17892302, 22708720, 28749435, 9654228		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital long QT syndrome	Congenital Long QT Syndrome	CLINVAR_DG	11320260, 12566567, 15840476, 16818210, 19008479, 19340287, 19521339, 19716085, 24400172, 24561134, 24606995, 26187847, 9354783, 9354802, 9445165		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17384445, 20185111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	25234231, 33040543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26489030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26489030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26489030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	15635070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15635070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	7622063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30988628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19399947	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	16399808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31621494, 31835641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	20146813, 30461122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21967835, 23535507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	9852064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20185111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxia	BEFREE	22999324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	38139087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	11438691, 12084623, 16610241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jervell and Lange-Nielsen syndrome	Jervell-Lange Nielsen Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Jervell And Lange-Nielsen Syndrome 1	Jervell-Lange Nielsen Syndrome	CTD_human_DG	9354783		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)	Jervell-Lange Nielsen Syndrome	UNIPROT_DG	10400998, 21676880, 9328483, 9354783		★★★★★ ★☆☆☆☆ Found in Text Mining only
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)	Jervell-Lange Nielsen Syndrome	CLINGEN_DG	10400998, 10973849, 11003695, 11832382, 12132284, 8982171, 9328483, 9354783, 9445165, 9670922, 9790991, 9933245		★★★★★ ★☆☆☆☆ Found in Text Mining only
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)	Jervell-Lange Nielsen Syndrome	GENOMICS_ENGLAND_DG	19716085, 26168993, 9790991		★★★★★ ★☆☆☆☆ Found in Text Mining only
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)	Jervell-Lange Nielsen Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)	Jervell-Lange Nielsen Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	BEFREE	10704188, 10973849, 12051962, 14510661, 15891643, 16461811, 16914890, 16929947, 16987820, 19027783, 23400408, 24552659, 30461122, 8899564, 9328483, 9848024 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	CLINVAR_DG	11320260, 12566567, 15840476, 16818210, 19008479, 19340287, 19521339, 19716085, 24400172, 24561134, 24606995, 26187847, 9354783, 9354802, 9445165		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	LHGDN	17646758, 18441444		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	ORPHANET_DG	24093767		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	CTD_human_DG	9354783		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	27509294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	10704188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	10400998, 10704188, 11438691, 11463728, 11692163, 12084623, 14499862, 14761891, 15107590, 15306731, 15746441, 15840476, 16461811, 16487223, 16556865 View all (29 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG	10400998, 10428953, 10807545, 11874988, 12566567, 14661677, 14760488, 15051636, 19695459, 19716085, 24400172, 24499369, 24561134, 24606995, 9354783, 9354802, 9445165 View all (2 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	CTD_human_DG	14510655, 18329740, 9354802		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long qt syndrome	Pubtator	16487223, 17597962, 18052691, 19305408, 19340287, 19716085, 20809527, 20823649, 20920651, 21244686, 21712262, 21967835, 22100668, 22677073, 23098067 View all (17 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	GENOMICS_ENGLAND_DG	16818210		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome 1	Long QT Syndrome	BEFREE	10077519, 15731462, 16914890, 16929947, 19027783, 30461122, 9848024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long Qt Syndrome 2	Long QT Syndrome	BEFREE	21712262, 27255646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long Qt Syndrome 2	Long qt syndrome	Pubtator	21712262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LONG QT SYNDROME 5	Long QT Syndrome	UNIPROT_DG	10400998, 10973849, 11692163, 16414944, 19716085, 25037568, 9354802, 9445165		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LONG QT SYNDROME 5	Long QT Syndrome	CLINVAR_DG	11874988, 12566567, 19716085, 9354783		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LONG QT SYNDROME 5	Long QT Syndrome	BEFREE	17956282		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long Qt Syndrome 5	Long qt syndrome	Pubtator	19340287, 21712262, 31679457	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LONG QT SYNDROME 5	Long QT Syndrome	GENOMICS_ENGLAND_DG	19716085, 26168993, 9790991		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LONG QT SYNDROME 5	Long QT Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30988628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15519529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	20034061, 22934933, 27509294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	31058602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18803136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	31308327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	30461122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	26228265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Propionic acidemia	Propionic acidemia	BEFREE	28193246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Romano-Ward Syndrome	Romano-Ward Syndrome	BEFREE	10077519, 16929947, 19027783, 30461122, 9848024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	24093767		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	20101688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	28589622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29672598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	14510661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Short Qt Syndrome	Short QT Syndrome	BEFREE	16929947, 26168993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	27543307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	19660109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	31481236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	BEFREE	11438691, 19695459, 22100668, 22999324, 26520166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de pointes	Pubtator	22100668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	11438691, 11692163, 15731462, 18803136, 26520166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	20823649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Premature Complexes	Ventricular ectopy	Pubtator	33040543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	GENOMICS_ENGLAND_DG	16818210		★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	26228265		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)