KCNA5 (potassium voltage-gated channel subfamily A member 5)

Gene

• Entrez ID: 3741
• Gene name: Potassium voltage-gated channel subfamily A member 5
• Gene symbol: KCNA5
• Synonyms (NCBI Gene): ATFB7, HCK1, HK2, HPCN1, KV1.5, PCN1
• Chromosome: 12
• Chromosome location: 12p13.32
• Summary: Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs77281462	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121908590	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121908592	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908593	G>A	Pathogenic	Coding sequence variant, missense variant
rs148708451	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199794307	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs202117321	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777336	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030147	hsa-miR-26b-5p	Microarray	19088304
MIRT491244	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT491243	hsa-miR-1321	PAR-CLIP	23592263
MIRT491242	hsa-miR-4739	PAR-CLIP	23592263
MIRT491241	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT491240	hsa-miR-5681a	PAR-CLIP	23592263
MIRT491238	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT491239	hsa-miR-4419a	PAR-CLIP	23592263
MIRT491237	hsa-miR-4510	PAR-CLIP	23592263
MIRT491236	hsa-miR-6127	PAR-CLIP	23592263
MIRT491235	hsa-miR-6129	PAR-CLIP	23592263
MIRT491234	hsa-miR-6130	PAR-CLIP	23592263
MIRT491233	hsa-miR-6133	PAR-CLIP	23592263
MIRT491232	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT491231	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT491230	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT491229	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT491228	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT491227	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT491226	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT491224	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT491225	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT732591	hsa-miR-3188	Luciferase reporter assay, qRT-PCR, Western blotting	33533580
MIRT491244	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT491243	hsa-miR-1321	PAR-CLIP	23592263
MIRT491242	hsa-miR-4739	PAR-CLIP	23592263
MIRT491241	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT491240	hsa-miR-5681a	PAR-CLIP	23592263
MIRT491238	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT491239	hsa-miR-4419a	PAR-CLIP	23592263
MIRT491237	hsa-miR-4510	PAR-CLIP	23592263
MIRT491236	hsa-miR-6127	PAR-CLIP	23592263
MIRT491235	hsa-miR-6129	PAR-CLIP	23592263
MIRT491234	hsa-miR-6130	PAR-CLIP	23592263
MIRT491233	hsa-miR-6133	PAR-CLIP	23592263
MIRT491232	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT491231	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT491230	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT491229	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT491228	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT491227	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT491226	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT491224	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT491225	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT1080253	hsa-miR-361-5p	CLIP-seq
MIRT1080254	hsa-miR-548c-3p	CLIP-seq
MIRT1080255	hsa-miR-548u	CLIP-seq
MIRT2019946	hsa-miR-4659a-3p	CLIP-seq
MIRT2019947	hsa-miR-4659b-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0001666	Process	Response to hypoxia	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	8505626, 11524461, 18281375
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	17267549, 20018952, 36917789
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	1986382, 12130714
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IMP	19343045
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	10812072, 11389904, 24550280, 32296183
GO:0005794	Component	Golgi apparatus	HDA	16780588
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IDA	7615797, 12130714
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	20018952
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	TAS	17060380
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	8576199
GO:0006813	Process	Potassium ion transport	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	1986382, 23264583
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009986	Component	Cell surface	IDA	23264583
GO:0014704	Component	Intercalated disc	IBA
GO:0014704	Component	Intercalated disc	IDA	7615797
GO:0014704	Component	Intercalated disc	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IDA	12970345
GO:0015271	Function	Outward rectifier potassium channel activity	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IMP	16236819
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0019901	Function	Protein kinase binding	IPI	8953041
GO:0030018	Component	Z disc	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034705	Component	Potassium channel complex	IDA	12130714
GO:0034705	Component	Potassium channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	1986382
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0045121	Component	Membrane raft	IDA	18218624
GO:0046691	Component	Intracellular canaliculus	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS	1986382
GO:0051259	Process	Protein complex oligomerization	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051393	Function	Alpha-actinin binding	IPI	10812072
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IEA
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0060081	Process	Membrane hyperpolarization	IMP	16236819
GO:0060372	Process	Regulation of atrial cardiac muscle cell membrane repolarization	IMP	19343045
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	12130714, 18281375
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	12021261
GO:0086014	Process	Atrial cardiac muscle cell action potential	IDA	18281375
GO:0086014	Process	Atrial cardiac muscle cell action potential	IMP	19343045, 23264583
GO:0086050	Process	Membrane repolarization during bundle of His cell action potential	IMP	23264583
GO:0086052	Process	Membrane repolarization during SA node cell action potential	IMP	19343045
GO:0086052	Process	Membrane repolarization during SA node cell action potential	TAS	10820151
GO:0086087	Function	Voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization	IMP	23264583
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP	19343045, 23264583
GO:0086090	Function	Voltage-gated potassium channel activity involved in SA node cell action potential repolarization	IMP	19343045, 23264583
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	19343045, 23264583
GO:0097110	Function	Scaffold protein binding	IPI	12970345, 18281375
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	1986382, 12970345
GO:0097623	Process	Potassium ion export across plasma membrane	IEA
GO:0097623	Process	Potassium ion export across plasma membrane	IMP	16236819
GO:0098914	Process	Membrane repolarization during atrial cardiac muscle cell action potential	IMP	19343045, 23264583
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000288	Process	Positive regulation of myoblast proliferation	IEA

Other IDs

• MIM: 176267
• HGNC: 6224
• e!Ensembl: ENSG00000130037

Protein

• UniProt ID: P22460
• Protein name: Potassium voltage-gated channel subfamily A member 5 (HPCN1) (Voltage-gated potassium channel HK2) (Voltage-gated potassium channel subunit Kv1.5)
• Protein function: Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channe
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	122 → 213	BTB/POZ domain	Domain
  PF00520	Ion_trans	249 → 527	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Pancreatic islets and insulinoma.
• Sequence:

  MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDA
  DSGVRPLPPLPDPGVRPLPPLPEELPRPRRPPPEDEEEEGDPGLGTVEDQALGTASLHHQ
  RVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLRNEYFFDRNRPSFDGILYYYQ
  SGGRLRRPVNVSLDVFADEIRFYQLGDEAMERFREDEGFIKEEEKPLPRNEFQRQVWLIF
  EYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANG
  SGVMAPPSGPTVAPLLPRTLADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNII
  DVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILRVIRLVRVFRIFKLSRHSKGL
  QILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTT
  VGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETDHEEPAVLKEEQG
  TQSQGPGLDRGVQRKVSGSRGSFCKAGGTLENADSARRGSCPLEKCNVKAKSNVDLRRSL
  YALCLDTSRETDL

• Sequence length: 613

Pathways

Reactome:

Voltage gated Potassium 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
Atrial fibrillation, familial, 7	Pathogenic	rs587777336, rs121908590, rs121908593	RCV000114991 RCV000014411 RCV000014414	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
altered potassium channel function	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 11	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 13	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 14	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 15	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 8	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR BLOCK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial atrial fibrillation	Likely benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNA5-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary hypertension, primary, 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Third degree atrioventricular block	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	32472752, 37779040	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	12850541		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	16772329, 19343045, 20638934, 23264583, 25918274, 29034891, 29201233, 30939909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	LHGDN	18209767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	18209767, 18452873, 20638934, 21924735, 22818067, 23717641, 25700171, 25918274, 28622331, 28803858, 29034891, 36740150, 37779040	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	19698954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	21179275	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	16772329, 19343045		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation, Familial, 7	Atrial Fibrillation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Fibrillation, Familial, 7	Atrial Fibrillation	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Flutter	Atrial flutter	Pubtator	18818480	Associate	★☆☆☆☆ Found in Text Mining only
Benign Hereditary Chorea	Benign Hereditary Chorea	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11212253, 30250548		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26573141	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	27823965		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37147523	Associate	★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18772588		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30987631		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30987631, 33267786	Associate	★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	14661677, 16253929		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27872049	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	31597447	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	18423823	Associate	★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 1	Episodic ataxia	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	26573141		★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glioblastoma	Glioblastoma	LHGDN	12850541		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12850541		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23911596		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31105886		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	21179275	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	31597447	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	17267549, 18083891		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31296221		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23270786	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25435365	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	17267549, 20556823, 23270786, 24936649, 27826710, 30218748		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	26167679		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	17267549		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	26167679		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33588072	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31650199	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30875800		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	10483966, 10984545, 11113008, 17470695, 9386136		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome 1	Long QT Syndrome	BEFREE	20981542, 9386136, 9641694		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31105886		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30250548		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14672622, 15541182, 30250548		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18772588		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14672622, 26573141		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15541182		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	LHGDN	12850541		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26569226	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30267647		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	19698954		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	27818488		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	27818488	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33533580	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11753974		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	20556823, 24936649, 34199176, 35346192, 36740150	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24936649, 30218748, 30636484		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	27811062	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	25918274, 29201233		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic heart disease	Pubtator	25918274	Associate	★☆☆☆☆ Found in Text Mining only
Romano-Ward Syndrome	Romano-Ward Syndrome	BEFREE	9641694		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	26573141	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	20556823, 34199176	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	27543307	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16258262, 33267786	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17428690		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	20556823, 23270786		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	BEFREE	16253929, 29456831		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34199176	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	29395134		★☆☆☆☆ Found in Text Mining only