CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)

Gene

• Entrez ID: 1137
• Gene name: Cholinergic receptor nicotinic alpha 4 subunit
• Gene symbol: CHRNA4
• Synonyms (NCBI Gene): BFNC, EBN, EBN1, NACHR, NACHRA4, NACRA4
• Chromosome: 20
• Chromosome location: 20q13.33
• Summary: This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931591	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs45588436	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs56142348	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs56175056	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs76378652	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs77345643	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs111969225	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs121909580	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912253	C>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs121912283	C>A,T	Not-provided, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs137860047	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs142646795	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs143103435	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Coding sequence variant, upstream transcript variant, missense variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs150336658	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200243948	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs281865066	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs281865067	->CAG	Pathogenic	Coding sequence variant, inframe insertion, non coding transcript variant
rs281865068	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs755416498	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs796052317	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs796052318	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT891746	hsa-miR-1233	CLIP-seq
MIRT891747	hsa-miR-1291	CLIP-seq
MIRT891748	hsa-miR-1470	CLIP-seq
MIRT891749	hsa-miR-184	CLIP-seq
MIRT891750	hsa-miR-188-5p	CLIP-seq
MIRT891751	hsa-miR-1972	CLIP-seq
MIRT891752	hsa-miR-1973	CLIP-seq
MIRT891753	hsa-miR-199a-5p	CLIP-seq
MIRT891754	hsa-miR-199b-5p	CLIP-seq
MIRT891755	hsa-miR-2909	CLIP-seq
MIRT891756	hsa-miR-3173-5p	CLIP-seq
MIRT891757	hsa-miR-3177-3p	CLIP-seq
MIRT891758	hsa-miR-3194-5p	CLIP-seq
MIRT891759	hsa-miR-328	CLIP-seq
MIRT891760	hsa-miR-342-5p	CLIP-seq
MIRT891761	hsa-miR-3616-3p	CLIP-seq
MIRT891762	hsa-miR-3622b-5p	CLIP-seq
MIRT891763	hsa-miR-3921	CLIP-seq
MIRT891764	hsa-miR-3940-3p	CLIP-seq
MIRT891765	hsa-miR-4251	CLIP-seq
MIRT891766	hsa-miR-4253	CLIP-seq
MIRT891767	hsa-miR-4270	CLIP-seq
MIRT891768	hsa-miR-4278	CLIP-seq
MIRT891769	hsa-miR-4323	CLIP-seq
MIRT891770	hsa-miR-4329	CLIP-seq
MIRT891771	hsa-miR-4434	CLIP-seq
MIRT891772	hsa-miR-4441	CLIP-seq
MIRT891773	hsa-miR-4516	CLIP-seq
MIRT891774	hsa-miR-4653-5p	CLIP-seq
MIRT891775	hsa-miR-4664-5p	CLIP-seq
MIRT891776	hsa-miR-4667-3p	CLIP-seq
MIRT891777	hsa-miR-4685-5p	CLIP-seq
MIRT891778	hsa-miR-4701-5p	CLIP-seq
MIRT891779	hsa-miR-4716-3p	CLIP-seq
MIRT891780	hsa-miR-4717-5p	CLIP-seq
MIRT891781	hsa-miR-4722-3p	CLIP-seq
MIRT891782	hsa-miR-4755-3p	CLIP-seq
MIRT891783	hsa-miR-4761-3p	CLIP-seq
MIRT891784	hsa-miR-4786-3p	CLIP-seq
MIRT891785	hsa-miR-4786-5p	CLIP-seq
MIRT891786	hsa-miR-588	CLIP-seq
MIRT891787	hsa-miR-769-5p	CLIP-seq
MIRT1964294	hsa-miR-1184	CLIP-seq
MIRT1964295	hsa-miR-1254	CLIP-seq
MIRT1964296	hsa-miR-1324	CLIP-seq
MIRT1964297	hsa-miR-3116	CLIP-seq
MIRT1964298	hsa-miR-4706	CLIP-seq
MIRT1964299	hsa-miR-4749-5p	CLIP-seq
MIRT1964300	hsa-miR-550a	CLIP-seq
MIRT1964301	hsa-miR-661	CLIP-seq
MIRT2200405	hsa-miR-146b-3p	CLIP-seq
MIRT2200406	hsa-miR-15a	CLIP-seq
MIRT2200407	hsa-miR-15b	CLIP-seq
MIRT2200408	hsa-miR-16	CLIP-seq
MIRT891749	hsa-miR-184	CLIP-seq
MIRT2200409	hsa-miR-195	CLIP-seq
MIRT2200410	hsa-miR-31	CLIP-seq
MIRT2200411	hsa-miR-3128	CLIP-seq
MIRT891756	hsa-miR-3173-5p	CLIP-seq
MIRT891761	hsa-miR-3616-3p	CLIP-seq
MIRT891762	hsa-miR-3622b-5p	CLIP-seq
MIRT2200412	hsa-miR-3665	CLIP-seq
MIRT2200413	hsa-miR-424	CLIP-seq
MIRT891766	hsa-miR-4253	CLIP-seq
MIRT891777	hsa-miR-4685-5p	CLIP-seq
MIRT891781	hsa-miR-4722-3p	CLIP-seq
MIRT891782	hsa-miR-4755-3p	CLIP-seq
MIRT891783	hsa-miR-4761-3p	CLIP-seq
MIRT2200414	hsa-miR-4761-5p	CLIP-seq
MIRT891784	hsa-miR-4786-3p	CLIP-seq
MIRT2200415	hsa-miR-497	CLIP-seq
MIRT2200416	hsa-miR-645	CLIP-seq
MIRT2200417	hsa-miR-874	CLIP-seq
MIRT2386062	hsa-miR-1915	CLIP-seq
MIRT2386063	hsa-miR-345	CLIP-seq
MIRT891781	hsa-miR-4722-3p	CLIP-seq
MIRT2386064	hsa-miR-4726-3p	CLIP-seq
MIRT2386065	hsa-miR-4732-3p	CLIP-seq
MIRT2200414	hsa-miR-4761-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	ISS
GO:0001666	Process	Response to hypoxia	IDA	12189247
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	16238698, 27344019, 29720657, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617, 17132685, 20881005, 27698419, 29720657, 38454578
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0006281	Process	DNA repair	IMP	16332175
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	8906617
GO:0006816	Process	Calcium ion transport	ISS
GO:0006979	Process	Response to oxidative stress	IMP	16332175
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007268	Process	Chemical synaptic transmission	NAS	7550350
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IDA	17132685, 27698419, 29720657, 38454578
GO:0007271	Process	Synaptic transmission, cholinergic	ISS
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0014059	Process	Regulation of dopamine secretion	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	ISS
GO:0016020	Component	Membrane	NAS	8906617
GO:0019233	Process	Sensory perception of pain	ISS
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	8906617, 17132685, 27698419, 29720657, 38454578
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
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	17132685, 20881005, 38454578
GO:0035094	Process	Response to nicotine	IBA
GO:0035094	Process	Response to nicotine	IDA	12189247
GO:0035095	Process	Behavioral response to nicotine	IMP	17955458
GO:0042113	Process	B cell activation	ISS
GO:0042166	Function	Acetylcholine binding	IC	8906617
GO:0042391	Process	Regulation of membrane potential	ISS
GO:0042734	Component	Presynaptic membrane	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050877	Process	Nervous system process	IMP	7550350, 17613539
GO:0050890	Process	Cognition	IMP	14623738
GO:0051899	Process	Membrane depolarization	IBA
GO:0051899	Process	Membrane depolarization	ISS
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	ISS
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IDA	11752216, 17132685, 27698419, 29720657, 38454578
GO:0097060	Component	Synaptic membrane	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	17132685, 20881005, 38454578
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	11752216

Other IDs

• MIM: 118504
• HGNC: 1958
• e!Ensembl: ENSG00000101204

Protein

• UniProt ID: P43681
• Protein name: Neuronal acetylcholine receptor subunit alpha-4
• 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: 2LLY, 5KXI, 6CNJ, 6CNK, 6UR8, 6USF, 8SSZ, 8ST0, 8ST1, 8ST2, 8ST3, 8ST4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	37 → 243	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	250 → 618	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MELGGPGAPRLLPPLLLLLGTGLLRASSHVETRAHAEERLLKKLFSGYNKWSRPVANISD
  VVLVRFGLSIAQLIDVDEKNQMMTTNVWVKQEWHDYKLRWDPADYENVTSIRIPSELIWR
  PDIVLYNNADGDFAVTHLTKAHLFHDGRVQWTPPAIYKSSCSIDVTFFPFDQQNCTMKFG
  SWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRKYECCAEIYPDITYAFVIR
  RLPLFYTINLIIPCLLISCLTVLVFYLPSECGEKITLCISVLLSLTVFLLLITEIIPSTS
  LVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPRTHTMPTWVRRVFLDIVPRLLLMKR
  PSVVKDNCRRLIESMHKMASAPRFWPEPEGEPPATSGTQSLHPPSPSFCVPLDVPAEPGP
  SCKSPSDQLPPQQPLEAEKASPHPSPGPCRPPHGTQAPGLAKARSLSVQHMSSPGEAVEG
  GVRCRSRSIQYCVPRDDAAPEADGQAAGALASRNTHSAELPPPDQPSPCKCTCKKEPSSV
  SPSATVKTRSTKAPPPHLPLSPALTRAVEGVQYIADHLKAEDTDFSVKEDWKYVAMVIDR
  IFLWMFIIVCLLGTVGLFLPPWLAGMI

• Sequence length: 627

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Cholinergic synapse
Nicotine addiction
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
Autosomal dominant nocturnal frontal lobe epilepsy	Likely pathogenic; Pathogenic	rs1555837911, rs121909580, rs28931591	RCV005094799 RCV001206285 RCV000692832	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nocturnal frontal lobe epilepsy 1	Likely pathogenic; Pathogenic	rs2516540108, rs121909580, rs28931591, rs281865067	RCV002465048 RCV000019050 RCV000019052 RCV000033927	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amyotrophic lateral sclerosis	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHUS CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRNA4-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSED MOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy 94	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FRONTAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial sleep-related hypermotor epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NICOTINE ADDICTION, PROTECTION AGAINST	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tobacco addiction, susceptibility to	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tobacco use disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; not provided; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTH Deficiency, Isolated	ACTH Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30655906		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24396883		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27228072, 28974241		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30655906		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15234980	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40159555	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	16055943, 18619425, 23479730, 30579679		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	19628475, 22873564		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	21500914, 28101715, 29383396, 30877025		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18690103, 21500914, 28101715, 29383396, 30029151, 30877025		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26952864	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	29609021		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28602809, 30585623		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	17434185		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28602809, 30585623		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	21748252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	17504247, 26598068, 37667328	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	12556914, 17504247, 17948872, 17955458, 22825876, 23899432, 29637850		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	21748252		★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	17504247	Associate	★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory processing disorder	BEFREE	31116647		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22094647, 28842344, 29536216, 31116647		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	15046869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15046869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	31294817	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	31835083		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29018331		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	10323309, 10448807, 10450598, 10563623, 10643924, 10802757, 10939581, 11062464, 11094099, 11121188, 11952766, 12121305, 12195439, 12782965, 12887442, 12887446, 15245761, 16815873, 17146052, 17324557, 17434185, 17602836, 17900292, 18456869, 18479385, 18762450, 19058950, 19383498, 19822871, 21497487, 21753767, 22036597, 22883468, 23553139, 25565544, 7550350, 9175743, 9259383, 9549500, 9758605, 9921897		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	CLINVAR_DG	10563623, 10939581, 12887446, 19237585, 22118295		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal frontal lobe epilepsy	Pubtator	10802757, 12887442, 12887446, 17385675, 17900292, 19237585, 19577488, 22036597, 23553139, 9758605	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	ORPHANET_DG	7550350		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nocturnal frontal lobe epilepsy	Nocturnal Epilepsy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	BEFREE	9579905		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34206324	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29396474, 29426250		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22085699, 31963558, 32272701	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16582591	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20124469, 20332232, 20581870, 21045689, 21640716, 22945651, 23143843, 23232035, 23576140, 23625155, 24186853, 24793809, 25324001, 26205096, 26845123, 27050379, 28750889, 28878681, 28974241, 28978081, 30701535, 31402126, 31634461		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23213073	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28155595		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31035425		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31035425		★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	20805988		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	20805988		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30655906		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28315314, 30949902		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23349703, 30550855, 31821848		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	10942032, 16339034		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30317024		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22036597	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	22300029, 24879992, 28168926, 28337332, 29159020, 29261656, 30333556, 30501536, 31153804		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29572553		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15161935, 21210228		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	10942032, 16339034		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	16023355, 16332175		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16332175, 22008229, 22300029		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	18690103, 22008229, 22760121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	22008229, 22760121, 26125703, 29637850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	22008229, 26125703	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	BEFREE	18671783		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	20805988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	22586585		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22586585		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22586585	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22586585	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22586585		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	17504247	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11771745		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30137517		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	37667328	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	18671783		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	12887442	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	25194487, 27029629, 9758605		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11579435, 12121305, 12458027, 12782965, 17632785, 19577488, 20016990, 25565544, 28791958, 29454195, 29630124, 9216991, 9921897		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	19577488	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	17385675, 19577488, 23553139	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Nocturnal Frontal Lobe Type 1	Nocturnal frontal lobe epilepsy	Pubtator	10802757	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	29630124	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	32342646	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Anterior Fronto-Polar	Epilepsy	CTD_human_DG	12823585, 14996991, 17881519		★☆☆☆☆ Found in Text Mining only
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	BEFREE	19822871		★☆☆☆☆ Found in Text Mining only
Epilepsy, Cingulate	Epilepsy	CTD_human_DG	12823585, 14996991, 17881519		★☆☆☆☆ Found in Text Mining only
Epilepsy, Frontal Lobe	Epilepsy	BEFREE	10802757, 10939581, 12823585, 17385675, 17434185, 18226955, 19058950, 25282705, 9549500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Frontal Lobe	Epilepsy	LHGDN	12121305, 12185808, 12887446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Frontal Lobe	Epilepsy	CTD_human_DG	12823585, 14996991, 17881519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	BEFREE	16049035, 16278970, 8678111		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	17385675		★☆☆☆☆ Found in Text Mining only
Epilepsy, Nocturnal Frontal Lobe, Type 1	Epilepsy	UNIPROT_DG	10563623, 14623738, 7550350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Nocturnal Frontal Lobe, Type 1	Epilepsy	GENOMICS_ENGLAND_DG	14623738, 7647781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Nocturnal Frontal Lobe, Type 1	Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Nocturnal Frontal Lobe, Type 1	Epilepsy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Nocturnal Frontal Lobe, Type 3	Epilepsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, Nocturnal Frontal Lobe, Type 4	Epilepsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, Opercular	Epilepsy	CTD_human_DG	12823585, 14996991, 17881519		★☆☆☆☆ Found in Text Mining only
Epilepsy, Orbito-Frontal	Epilepsy	CTD_human_DG	12823585, 14996991, 17881519		★☆☆☆☆ Found in Text Mining only
Epilepsy, Partial, with Variable Foci	Epilepsy	BEFREE	29630124		★☆☆☆☆ Found in Text Mining only
Epilepsy, Supplementary Motor	Epilepsy	CTD_human_DG	12823585, 14996991, 17881519		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	10942032, 16339034		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29454195		★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	16686649, 7647781, 7705837, 8154876, 9216991, 9259383, 9579905		★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	29454195	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27834303	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	12887442, 29454195		★☆☆☆☆ Found in Text Mining only
Frontal Epilepsy, Benign, Childhood	Epilepsy	CTD_human_DG	12823585, 14996991, 17881519		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	29454195	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	10942032, 16339034		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	30137517		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33276105	Associate	★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	BEFREE	29080744		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	17962128	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27339462		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	11121188, 17385675, 19577488, 9259383		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15964197, 21884718, 22300029, 24879992, 25680266, 28168926, 28337332, 28993233, 29159020, 29237730, 29261656, 29505470, 30047036, 30333556, 30501536, 30585907, 31153804		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22586585	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22036597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	31062470		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29355569		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	10942032, 16339034		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	10691109, 19577488, 25565544, 8796880, 9259383		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24569419	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30429582		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	31116647		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30655906		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30655906		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	22300029		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31492006		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20124469, 20332232, 23232035, 23843950, 26952864	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28878681, 28978081		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	11532536, 29800595		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29396474, 29426250		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20124469, 20332232, 20581870, 21045689, 21640716, 22945651, 23143843, 23232035, 23576140, 23625155, 24186853, 24793809, 25324001, 26205096, 26845123, 27050379, 28750889, 28878681, 28974241, 28978081, 30701535, 31402126, 31634461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26499946, 26790437, 31640627		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23232035, 24089524, 25324001, 26205096, 28978081, 29163048, 30701535, 31727368		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31035425		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15161935, 21210228		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20953833		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31835799		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	18690103, 22008229, 22760121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	22008229, 22760121, 26125703, 29637850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	12782965, 15964197, 21500914, 22008229, 23624811, 29237730		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30953718		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	18071042, 31420499		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	17290276		★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	21748252		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36918699	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	28891599		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	14592882, 17651090, 29040265		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	9649579	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	29497086, 33652901	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16280133		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	16280133		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28197102, 30984342		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	19577488	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30286033		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20953833, 24089524, 28750889, 28878681, 28978081, 29426250, 30642446, 31492006, 9375661		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21949802	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	20805988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	7620586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	24143857, 28797116		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29064842		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31116647		★☆☆☆☆ Found in Text Mining only
Nocturnal epilepsy	Nocturnal Epilepsy	BEFREE	19383498		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17600315, 19616116, 23625155, 24793809, 25028095, 25172267, 27409670, 28750889, 28878681, 29426250, 30642446, 31096457, 31727368		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30573639, 31740666		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25036316		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31500447		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32649943	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21630219		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22188668	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	9129724		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20493238, 26125703, 28551099, 29064842, 30660626, 30912145, 31348980		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21252231, 26125703	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	29454195		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	21630219		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	26952864	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	22300029		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28039041		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30655906		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16332175, 22008229, 22300029		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31614011		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30573639, 31740666		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22438921, 23349703, 26952864	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28283678		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	33050277	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28241318		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	28241318		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11150893, 12783266, 16636791, 17651090, 17884806, 18762859, 21979958, 26982087, 28168926, 28337332, 28791958, 29159020, 29175423, 29185480, 29237730, 29248596, 29261656, 29505470, 29522184, 30333556, 30920339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16636791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17884806, 20817066, 21368748, 21979958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22036597, 25934188, 31294817	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	12887442	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures Febrile	Seizures	Pubtator	12887442	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	15698636, 31114953		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30286033, 30947238		★☆☆☆☆ Found in Text Mining only
Short Sleeper Syndrome	Short Sleeper Syndromes	CTD_human_DG	16339034		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	10942032, 16339034		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	CTD_human_DG	16339034		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	26125703		★☆☆☆☆ Found in Text Mining only
Sleep Wake Disorders	Sleep Wake Disorders	CTD_human_DG	16339034		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	20124469, 28974241		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	20124469	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24396883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17465209, 25956553, 36284268	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24089524		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25956553		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26499946, 26790437, 31640627		★☆☆☆☆ Found in Text Mining only
Stress Disorders, Traumatic	Stress Disorder	BEFREE	29383396		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	10942032, 16339034		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	12458027		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29163048		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	11532536, 29800595		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	7647781		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	10942032, 16339034		★☆☆☆☆ Found in Text Mining only