KCND3 (potassium voltage-gated channel subfamily D member 3)

Gene

• Entrez ID: 3752
• Gene name: Potassium voltage-gated channel subfamily D member 3
• Gene symbol: KCND3
• Synonyms (NCBI Gene): BRGDA9, KCND3L, KCND3S, KSHIVB, KV4.3, SCA19, SCA22
• Chromosome: 1
• Chromosome location: 1p13.2
• 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
rs149344567	C>T	Pathogenic, uncertain-significance	Genic downstream transcript variant, 3 prime UTR variant, missense variant, coding sequence variant
rs150401343	G>A	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs200532657	C>T	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs201340369	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369361457	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397515475	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs397515476	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs786205867	C>T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs797045634	C>A	Pathogenic	Missense variant, coding sequence variant
rs867628133	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518007	C>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519453	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057521793	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064794895	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1571636501	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571636508	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1571939623	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1571939827	A>T	Pathogenic	Coding sequence variant, missense variant
rs1571939905	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021549	hsa-miR-142-3p	Microarray	17612493
MIRT051143	hsa-miR-16-5p	CLASH	23622248
MIRT035756	hsa-miR-449c-5p	CLASH	23622248
MIRT702548	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT702547	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT702546	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT702545	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT702544	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT702543	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT702542	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT702541	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT702540	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT702539	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT702538	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT702537	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT702536	hsa-miR-302e	HITS-CLIP	23313552
MIRT702535	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT702534	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT702533	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT702532	hsa-miR-520b	HITS-CLIP	23313552
MIRT702531	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT702530	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT702529	hsa-miR-520e	HITS-CLIP	23313552
MIRT702528	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT702527	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT702526	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT702525	hsa-miR-520h	HITS-CLIP	23313552
MIRT702524	hsa-miR-1306-5p	HITS-CLIP	23313552
MIRT702523	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT702522	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT702521	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT702520	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT702519	hsa-miR-26b-3p	HITS-CLIP	23313552
MIRT702518	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT702517	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT702516	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT625924	hsa-miR-609	HITS-CLIP	23824327
MIRT625923	hsa-miR-376a-3p	HITS-CLIP	23824327
MIRT625922	hsa-miR-376b-3p	HITS-CLIP	23824327
MIRT625921	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT474978	hsa-miR-2392	PAR-CLIP	23592263
MIRT474979	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT474977	hsa-miR-139-5p	PAR-CLIP	23592263
MIRT474976	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT474975	hsa-miR-4534	PAR-CLIP	23592263
MIRT474974	hsa-miR-8082	PAR-CLIP	23592263
MIRT474973	hsa-miR-548v	PAR-CLIP	23592263
MIRT474972	hsa-miR-6124	PAR-CLIP	23592263
MIRT474971	hsa-miR-765	PAR-CLIP	23592263
MIRT474970	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT702548	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT702547	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT702546	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT702545	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT702544	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT702543	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT702542	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT702541	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT702540	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT702539	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT702538	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT702537	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT702536	hsa-miR-302e	HITS-CLIP	23313552
MIRT702535	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT702534	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT702533	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT702532	hsa-miR-520b	HITS-CLIP	23313552
MIRT702531	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT702530	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT702529	hsa-miR-520e	HITS-CLIP	23313552
MIRT702528	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT702527	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT702526	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT702525	hsa-miR-520h	HITS-CLIP	23313552
MIRT702524	hsa-miR-1306-5p	HITS-CLIP	23313552
MIRT702523	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT702522	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT702521	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT702520	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT702519	hsa-miR-26b-3p	HITS-CLIP	23313552
MIRT702518	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT702517	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT702516	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT625924	hsa-miR-609	HITS-CLIP	23824327
MIRT625923	hsa-miR-376a-3p	HITS-CLIP	23824327
MIRT625922	hsa-miR-376b-3p	HITS-CLIP	23824327
MIRT625921	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT474978	hsa-miR-2392	PAR-CLIP	23592263
MIRT474979	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT474977	hsa-miR-139-5p	PAR-CLIP	23592263
MIRT474976	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT474975	hsa-miR-4534	PAR-CLIP	23592263
MIRT474974	hsa-miR-8082	PAR-CLIP	23592263
MIRT474973	hsa-miR-548v	PAR-CLIP	23592263
MIRT474972	hsa-miR-6124	PAR-CLIP	23592263
MIRT474971	hsa-miR-765	PAR-CLIP	23592263
MIRT474970	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT1080747	hsa-miR-3675-5p	CLIP-seq
MIRT1080748	hsa-miR-4514	CLIP-seq
MIRT1080749	hsa-miR-4692	CLIP-seq
MIRT1080750	hsa-miR-486-3p	CLIP-seq
MIRT2020016	hsa-miR-4264	CLIP-seq
MIRT2020017	hsa-miR-4797-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005250	Function	A-type (transient outward) potassium channel activity	IBA
GO:0005250	Function	A-type (transient outward) potassium channel activity	IDA	21349352
GO:0005250	Function	A-type (transient outward) potassium channel activity	IDA	9843794, 10200233, 14980207, 17187064, 21349352, 21493962, 22457051, 23280837, 23280838, 34997220
GO:0005250	Function	A-type (transient outward) potassium channel activity	TAS	8734615
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	14980207, 17187064, 21493962
GO:0005886	Component	Plasma membrane	IDA	23280837, 23280838
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	IDA	14980207, 17187064, 23280837, 23280838, 34997220
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	8734615
GO:0006936	Process	Muscle contraction	NAS	21349352
GO:0007268	Process	Chemical synaptic transmission	NAS	21349352
GO:0008016	Process	Regulation of heart contraction	NAS	21349352
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	21493962
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	8734615
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043197	Component	Dendritic spine	IBA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051262	Process	Protein tetramerization	IDA	14980207
GO:0055085	Process	Transmembrane transport	IEA
GO:0071196	Component	Kv4.3-KChIP1 channel complex	IPI	17187064
GO:0071805	Process	Potassium ion transmembrane transport	IDA	9843794, 10200233, 21349352, 22457051
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	TAS	26016905
GO:0086009	Process	Membrane repolarization	IDA	21493962
GO:0086009	Process	Membrane repolarization	IEA
GO:0086009	Process	Membrane repolarization	NAS	21349352
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	TAS	26016905
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	21349352
GO:0097623	Process	Potassium ion export across plasma membrane	IBA
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	21349352, 21493962
GO:0097623	Process	Potassium ion export across plasma membrane	ISS	26016905
GO:0097623	Process	Potassium ion export across plasma membrane	NAS	21349352
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099625	Process	Ventricular cardiac muscle cell membrane repolarization	IMP	21349352
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	21349352

Other IDs

• MIM: 605411
• HGNC: 6239
• e!Ensembl: ENSG00000171385

Protein

• UniProt ID: Q9UK17
• Protein name: A-type voltage-gated potassium channel KCND3 (Potassium voltage-gated channel subfamily D member 3) (Voltage-gated potassium channel subunit Kv4.3)
• Protein function: Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart (PubMed:10200233, PubMed:17187064, PubMed:21349352, PubMed:22457051, PubMed:232808
• PDB: 1S1G, 2NZ0, 7W3Y, 7W6N, 7W6S, 7W6T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11601	Shal-type	3 → 31	Shal-type voltage-gated potassium channels, N-terminal	Domain
  PF02214	BTB_2	42 → 131	BTB/POZ domain	Domain
  PF00520	Ion_trans	182 → 414	Ion transport protein	Family
  PF11879	DUF3399	442 → 563	Domain of unknown function (DUF3399)	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate nucleus (PubMed:10200233, PubMed:10729221, PubMed:9843794). Detected at lower levels in liver, skeletal muscle, kidney and pancreas (PubMed:
• Sequence:

  MAAGVAAWLPFARAAAIGWMPVANCPMPLAPADKNKRQDELIVLNVSGRRFQTWRTTLER
  YPDTLLGSTEKEFFFNEDTKEYFFDRDPEVFRCVLNFYRTGKLHYPRYECISAYDDELAF
  YGILPEIIGDCCYEEYKDRKRENAERLMDDNDSENNQESMPSLSFRQTMWRAFENPHTST
  LALVFYYVTGFFIAVSVITNVVETVPCGTVPGSKELPCGERYSVAFFCLDTACVMIFTVE
  YLLRLFAAPSRYRFIRSVMSIIDVVAIMPYYIGLVMTNNEDVSGAFVTLRVFRVFRIFKF
  SRHSQGLRILGYTLKSCASELGFLLFSLTMAIIIFATVMFYAEKGSSASKFTSIPASFWY
  TIVTMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVPVIVSNFSRIYHQNQRADKRR
  AQKKARLARIRVAKTGSSNAYLHSKRNGLLNEALELTGTPEEEHMGKTTSLIESQHHHLL
  HCLEKTTGLSYLVDDPLLSVRTSTIKNHEFIDEQMFEQNCMESSMQNYPSTRSPSLSSHP
  GLTTTCCSRRSKKTTHLPNSNLPATRLRSMQELSTIHIQGSEQPSLTTSRSSLNLKADDG
  LRPNCKTSQITTAIISIPTPPALTPEGESRPPPASPGPNTNIPSIASNVVKVSAL

• Sequence length: 655

Pathways

KEGG:

Spinocerebellar ataxia

Reactome:

Voltage gated Potassium channels
Phase 1 - inactivation of fast Na+ channels

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 9	Likely pathogenic; Pathogenic	rs786205867	RCV000172844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1664632655	RCV004629532	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary ataxia	Likely pathogenic; Pathogenic	rs1664632655	RCV005626384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1571939623	RCV001007561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs1571939623	RCV001007561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 19/22	Likely pathogenic; Pathogenic	rs2101995572, rs2101995530, rs786205867, rs797045634, rs2525053501, rs2525053579, rs2525699283, rs2525698722, rs1057519453, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs397515475, rs397515476, rs397515478, rs1674966041, rs1664632655	RCV002273033 RCV002273254 RCV000460804 RCV000194577 RCV003147966 RCV003333268 RCV003388423 RCV003389358 RCV000416456 RCV000853621 RCV000853620 RCV000853619 RCV000853618 RCV000056298 RCV000056299 RCV001849175 RCV001253322 RCV003389334	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Variant of unknown significance	Likely pathogenic	rs397515478	RCV000056301	★★★★☆ 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
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BRUGADA SYNDROME 1	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTOPIC RHYTHM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCND3-related disorder	not provided; Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 19	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelogenesis imperfecta nephrocalcinosis	Amelogenesis Imperfecta	BEFREE	31173922		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	26189493	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	18192214, 21349352, 29259226, 37446101	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28139761	Associate	★☆☆☆☆ Found in Text Mining only
Asthma, Occupational	Asthma	BEFREE	28139761		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	25854634, 30776697, 37446101	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	15895560, 23280837, 26189493, 26374734, 29527639, 31293010		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37372394	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	11693772	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28416822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	28416822, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	28416822, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	32921676, 35861988, 37122220	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Flutter	Atrial flutter	Pubtator	35861988	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	26189493, 30776697	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27562213	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	29482223	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29527639, 30776697	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	21349352, 22155597, 22457051, 22840528, 24963029, 26016905, 30776697, 32709127, 35861988	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	10200233, 21349352, 22284586, 22840528, 26016905		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	10942109, 21349352, 22284586, 22457051, 27287695, 30776697		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	ORPHANET_DG	21349352		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 1	Brugada Syndrome	CLINGEN_DG	10200233, 21349352, 22284586, 22840528, 26016905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME 9	Brugada Syndrome	UNIPROT_DG	21349352, 22457051		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRUGADA SYNDROME 9	Brugada Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRUGADA SYNDROME 9	Brugada Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25854634	Associate	★☆☆☆☆ Found in Text Mining only
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	CLINGEN_DG	10200233, 21349352, 22284586, 22840528, 26016905		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	26189493, 29482223, 34361012	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Early Onset	Cerebellar Ataxia	BEFREE	26189493		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	20042375	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28947073, 34361012	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10403493		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23036686		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37446101	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21355884		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	37372394	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28895081		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	30776697	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	12383275, 26189493, 28947073, 30776697, 32607479, 32921676, 33232902	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26189493, 28947073, 30776697		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	30292882, 31075689	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	19903818	Associate	★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23036686		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	29259226, 37762145	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37372394	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	12015163		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15008504, 28947073		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	26189493, 32921676	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	28895081		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12015163, 12383275		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	28207827	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	10942109, 11310586, 15563876, 18052691		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	18052691, 18192214	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30051729		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10403493		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	32709127, 32921676	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24995361	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	12383275	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25854634, 34361012	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31293010		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36736467	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36736467	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	28947073, 29527639, 34361012, 37446101	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	28416822, 29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	22457051	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	23280837		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	24785509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	12383275	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	10200233, 21349352, 22284586, 22840528, 26016905		★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 19	Spinocerebellar Ataxia	BEFREE	15895560, 23280838, 25854634, 29527639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 19	Spinocerebellar Ataxia	ORPHANET_DG	22890214		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 19	Spinocerebellar Ataxia	UNIPROT_DG	23280837, 23280838, 28895081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 19	Spinocerebellar ataxia	Pubtator	23280837, 25854634, 26189493, 28947073, 29527639, 30776697, 34087979, 37446101, 40140957	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 19	Spinocerebellar Ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 19	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 19	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 19/22	Spinocerebellar Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	12383275, 23280837, 26374734, 29527639, 32607479, 32709127	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	14632936		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30051729		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	26189493	Associate	★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	18811803	Inhibit	★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	35861988	Associate	★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	18811803	Inhibit	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	35861988	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	22457051		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	30776697	Associate	★☆☆☆☆ Found in Text Mining only