CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)

Gene

• Entrez ID: 1136
• Gene name: Cholinergic receptor nicotinic alpha 3 subunit
• Gene symbol: CHRNA3
• Synonyms (NCBI Gene): BAIPRCK, LNCR2, NACHRA3, PAOD2
• Chromosome: 15
• Chromosome location: 15q25.1
• Summary: This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains charac

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs578776	G>A,C	Drug-response	3 prime UTR variant, intron variant
rs1051730	G>A	Drug-response, risk-factor	Non coding transcript variant, coding sequence variant, synonymous variant
rs199547652	A>C,G	Pathogenic	Splice donor variant
rs200551904	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1596073421	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT891725	hsa-miR-1197	CLIP-seq
MIRT891726	hsa-miR-1206	CLIP-seq
MIRT891727	hsa-miR-1224-5p	CLIP-seq
MIRT891728	hsa-miR-1294	CLIP-seq
MIRT891729	hsa-miR-129-5p	CLIP-seq
MIRT891730	hsa-miR-3148	CLIP-seq
MIRT891731	hsa-miR-3607-5p	CLIP-seq
MIRT891732	hsa-miR-4316	CLIP-seq
MIRT891733	hsa-miR-450b-5p	CLIP-seq
MIRT891734	hsa-miR-4640-3p	CLIP-seq
MIRT891735	hsa-miR-4704-3p	CLIP-seq
MIRT891736	hsa-miR-4751	CLIP-seq
MIRT891737	hsa-miR-507	CLIP-seq
MIRT891738	hsa-miR-548ae	CLIP-seq
MIRT891739	hsa-miR-548aj	CLIP-seq
MIRT891740	hsa-miR-548am	CLIP-seq
MIRT891741	hsa-miR-548x	CLIP-seq
MIRT891742	hsa-miR-557	CLIP-seq
MIRT891743	hsa-miR-3685	CLIP-seq
MIRT891744	hsa-miR-384	CLIP-seq
MIRT891745	hsa-miR-586	CLIP-seq
MIRT891729	hsa-miR-129-5p	CLIP-seq
MIRT1964287	hsa-miR-150	CLIP-seq
MIRT1964288	hsa-miR-192	CLIP-seq
MIRT1964289	hsa-miR-215	CLIP-seq
MIRT1964290	hsa-miR-4312	CLIP-seq
MIRT891733	hsa-miR-450b-5p	CLIP-seq
MIRT1964291	hsa-miR-4535	CLIP-seq
MIRT1964292	hsa-miR-4776-5p	CLIP-seq
MIRT1964293	hsa-miR-492	CLIP-seq
MIRT891737	hsa-miR-507	CLIP-seq
MIRT891742	hsa-miR-557	CLIP-seq
MIRT1964287	hsa-miR-150	CLIP-seq
MIRT1964288	hsa-miR-192	CLIP-seq
MIRT1964289	hsa-miR-215	CLIP-seq
MIRT1964290	hsa-miR-4312	CLIP-seq
MIRT1964291	hsa-miR-4535	CLIP-seq
MIRT1964292	hsa-miR-4776-5p	CLIP-seq
MIRT1964293	hsa-miR-492	CLIP-seq
MIRT2427324	hsa-miR-4261	CLIP-seq
MIRT2427325	hsa-miR-4666-5p	CLIP-seq
MIRT2427326	hsa-miR-494	CLIP-seq
MIRT2427327	hsa-miR-587	CLIP-seq
MIRT1964287	hsa-miR-150	CLIP-seq
MIRT2503228	hsa-miR-1915	CLIP-seq
MIRT2503229	hsa-miR-3617	CLIP-seq
MIRT2503230	hsa-miR-3913-3p	CLIP-seq
MIRT2503231	hsa-miR-4269	CLIP-seq
MIRT2503232	hsa-miR-4457	CLIP-seq
MIRT2503233	hsa-miR-4514	CLIP-seq
MIRT2503234	hsa-miR-4645-5p	CLIP-seq
MIRT2503235	hsa-miR-4673	CLIP-seq
MIRT2503236	hsa-miR-4692	CLIP-seq
MIRT2503237	hsa-miR-4713-5p	CLIP-seq
MIRT2503238	hsa-miR-4726-3p	CLIP-seq
MIRT2503239	hsa-miR-4731-3p	CLIP-seq
MIRT2503240	hsa-miR-4753-3p	CLIP-seq
MIRT2503241	hsa-miR-4801	CLIP-seq
MIRT2503242	hsa-miR-489	CLIP-seq
MIRT2503243	hsa-miR-532-3p	CLIP-seq
MIRT2503244	hsa-miR-641	CLIP-seq
MIRT2503245	hsa-miR-642b	CLIP-seq
MIRT2503246	hsa-miR-656	CLIP-seq
MIRT2503247	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ASCL1	Unknown	20124469

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	26265139, 27344019
GO:0005730	Component	Nucleolus	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617, 11118490, 20881005, 31488329
GO:0005892	Component	Acetylcholine-gated channel complex	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	8906617
GO:0006940	Process	Regulation of smooth muscle contraction	ISS
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	ISS
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0007399	Process	Nervous system development	IMP	11450844
GO:0007626	Process	Locomotory behavior	ISS
GO:0014056	Process	Regulation of acetylcholine secretion, neurotransmission	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	TAS	20438829
GO:0015464	Function	Acetylcholine receptor activity	IDA	8906617
GO:0015464	Function	Acetylcholine receptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8906617
GO:0016607	Component	Nuclear speck	IDA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	8906617
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	20438829
GO:0030425	Component	Dendrite	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IDA	11118490, 20881005, 31488329
GO:0034703	Component	Cation channel complex	ISS
GO:0035094	Process	Response to nicotine	IBA
GO:0035095	Process	Behavioral response to nicotine	IMP	18227835
GO:0036064	Component	Ciliary basal body	IDA
GO:0042166	Function	Acetylcholine binding	IC	8906617
GO:0042391	Process	Regulation of membrane potential	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043025	Component	Neuronal cell body	ISS
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	ISS
GO:0051899	Process	Membrane depolarization	IBA
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060084	Process	Synaptic transmission involved in micturition	IMP	11450844
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0095500	Process	Acetylcholine receptor signaling pathway	ISS
GO:0097060	Component	Synaptic membrane	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	11118490, 20881005, 31488329
GO:0098878	Component	Neurotransmitter receptor complex	ISS
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:1905144	Process	Response to acetylcholine	ISS

Other IDs

• MIM: 118503
• HGNC: 1957
• e!Ensembl: ENSG00000080644

Protein

• UniProt ID: P32297
• Protein name: Neuronal acetylcholine receptor subunit alpha-3
• Protein function: Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nA
• PDB: 4ZK4, 5SYO, 5TVC, 6PV7, 6PV8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	35 → 241	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	248 → 495	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPV
  IIHFEVSMSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPD
  IVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSW
  SYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRL
  PLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLV
  IPLIGEYLLFTMIFVTLSIVITVFVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPT
  SNEGNAQKPRPLYGAELSNLNCFSRAESKGCKEGYPCQDGMCGYCHHRRIKISNFSANLT
  RSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEIQDDWKYVAMVIDRIFL
  WVFTLVCILGTAGLFLQPLMAREDA

• Sequence length: 505

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Cholinergic synapse
Chemical carcinogenesis - receptor activation

Reactome:

Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors

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
Amyotrophic lateral sclerosis	Likely pathogenic	rs2053207945, rs2053208751, rs2053501632, rs2053539304	RCV001095526 RCV001095527 RCV001095528 RCV001095529	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3	Likely pathogenic	rs2141325372	RCV001535888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Urinary bladder, atony of	Likely pathogenic; Pathogenic	rs2141325372, rs2542813635, rs1596073421, rs200551904, rs199547652	RCV001535888 RCV002463880 RCV000993664 RCV000993665 RCV000993666	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRNA3-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer susceptibility 2	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19223495, 24686516, 25233467		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	19836008		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	22356581		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28553097	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	23689675	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22017462, 27187070		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27187070, 28873088	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	23109089, 24375168, 27302872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30498225		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	31708116	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	10923651		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	23196875	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	34206324	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25139936	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	22017462		★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	GWASCAT_DG	25241909		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	31708116		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	GENOMICS_ENGLAND_DG	31708116		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	31708116	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	18978787, 18978790, 29924316, 30104567		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19010884, 19223495, 19247474, 19300482, 19443489, 19465454, 19641473, 19706762, 19733931, 19955392, 20068085, 20234319, 20554942, 20587604, 21045689, 21229299, 21559498, 21645942, 21747048, 21778810, 21862624, 22280835, 22438940, 22441734, 22701590, 23011884, 23023782, 23029550, 23056235, 23061658, 23085811, 23143843, 23207642, 23591849, 24186853, 25072098, 25288178, 25656608, 26689306, 26831765, 26942719, 27015805, 27072204, 27462996, 29110844, 29416783, 29993116, 31402126		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21623257, 21645942, 22722785	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26689306, 27015805, 30882151	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19300482, 20584212, 20656943, 21685187, 22080838, 22356581, 22438940, 22441734, 22461431, 22914670, 23056235, 23207642, 23255854, 23299987, 24535486, 24621683, 25051068, 25072098, 25891420, 26689306, 27323020, 27462996, 27835950, 28474623, 29422661, 29993116		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASDB_DG	21921092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	24621683, 25101718, 25241909, 26634245, 29631575, 29767774, 30804561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clonic Seizures	Clonic Seizures	CTD_human_DG	15275829		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	15275829		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	33947782	Associate	★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	BEFREE	26689306		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28873088		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28873088	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11771745		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	31708116		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	GENOMICS_ENGLAND_DG	31708116		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	20656943, 21232152, 22356581, 28553097	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	15275829		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24621512		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22430803	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24621512		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27610024	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	15275829		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24393335	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	20360305	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	23349703, 24588897	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31599127		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22430803	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	27187070		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25874685	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25874685		★☆☆☆☆ Found in Text Mining only
Hypotension Orthostatic	Orthostatic hypotension	Pubtator	33947782	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	31362771	Associate	★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	15275829		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21146512		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22441734, 25072098	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	23207642		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18385676, 19010884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	18385676, 18780872, 19010884, 19247474, 19300482, 19641473, 19706762, 20234319, 20332232, 20395203, 20554942, 20564069, 20584212, 20587604, 21559498, 21586512, 21645942, 21697764, 21747048, 21862624, 22280835, 22306564, 22430809, 22438940, 22441734, 22945651, 23029550, 23056235, 23094028, 23591849, 25072098, 25139936, 25656608, 26689306, 26751916, 26942719, 27015805, 27187070, 27462996, 29609626, 29924316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	18385738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	40197297	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20234319	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31599127		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24621512		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	18385676, 18385738, 18978787, 18978790, 19654303, 22899653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	18385738		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19010884, 19223495, 19247474, 19300482, 19443489, 19465454, 19641473, 19706762, 19733931, 19955392, 20068085, 20234319, 20554942, 20587604, 21045689, 21229299, 21559498, 21645942, 21747048, 21778810, 21862624, 22280835, 22438940, 22441734, 22701590, 23011884, 23023782, 23029550, 23056235, 23061658, 23085811, 23143843, 23207642, 23591849, 24186853, 25072098, 25288178, 25656608, 26689306, 26831765, 26942719, 27015805, 27072204, 27462996, 29110844, 29416783, 29993116, 31402126		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21831520		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19465454, 19955392, 21831520, 26689306		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27344179	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	24505444	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	30734484	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23085811		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20234319		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19460840	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23417100		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	24588897		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19733931, 20234319, 22722785, 23011884, 25399010, 29416783		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23729684, 26264275		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	22441734	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	26689306, 34601942	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	26689306		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	26689306		★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	31708116	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19300482, 20564069, 20584212, 20656943, 21232152, 22356581, 22438921, 22438940, 22441734, 22461431, 23056235, 23255854, 23299987, 23349703, 25006744, 25072098, 26689306, 26751916, 27323020, 27462996, 27835950, 28474623, 28553097, 29422661, 34707353	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	20656943, 21232152, 23207642		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	22441734	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20393456, 29879020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20393456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	20393456, 23196875, 29228394	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 26198764, 28540026, 28991256, 29483656, 30285260, 31268507, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	15275829		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 2	Spinocerebellar ataxia	Pubtator	19247474	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21645942		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	21623257		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21831520		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	15275829		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	20393456	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21443033		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	31708116	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	15275829		★☆☆☆☆ Found in Text Mining only