CHRFAM7A (CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion)

Gene

• Entrez ID: 89832
• Gene name: CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
• Gene symbol: CHRFAM7A
• Synonyms (NCBI Gene): CHRNA7, CHRNA7-DR1, D-10, NACHRA7
• Chromosome: 15
• Chromosome location: 15q13.2
• Summary: The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neu

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017997	hsa-miR-335-5p	Microarray	18185580
MIRT025040	hsa-miR-181a-5p	Microarray	17612493
MIRT704706	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT704705	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT704704	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT704703	hsa-miR-4521	HITS-CLIP	23313552
MIRT704702	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT704701	hsa-miR-4486	HITS-CLIP	23313552
MIRT704700	hsa-miR-661	HITS-CLIP	23313552
MIRT704699	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT704698	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT704696	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT704697	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT704695	hsa-miR-7703	HITS-CLIP	23313552
MIRT668989	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT648163	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT648162	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT648161	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT648160	hsa-miR-1825	HITS-CLIP	23824327
MIRT648159	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT648158	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT648157	hsa-miR-759	HITS-CLIP	23824327
MIRT628338	hsa-miR-8485	HITS-CLIP	23824327
MIRT628337	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628336	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628335	hsa-miR-603	HITS-CLIP	23824327
MIRT668988	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT628334	hsa-miR-3941	HITS-CLIP	23824327
MIRT628333	hsa-miR-4672	HITS-CLIP	23824327
MIRT628332	hsa-miR-466	HITS-CLIP	23824327
MIRT648163	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT648162	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT648161	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT648160	hsa-miR-1825	HITS-CLIP	23824327
MIRT648159	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT648158	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT648157	hsa-miR-759	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT628338	hsa-miR-8485	HITS-CLIP	23824327
MIRT628337	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628336	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628335	hsa-miR-603	HITS-CLIP	23824327
MIRT628334	hsa-miR-3941	HITS-CLIP	23824327
MIRT628333	hsa-miR-4672	HITS-CLIP	23824327
MIRT628332	hsa-miR-466	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT628338	hsa-miR-8485	HITS-CLIP	23824327
MIRT628337	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628336	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628335	hsa-miR-603	HITS-CLIP	23824327
MIRT628334	hsa-miR-3941	HITS-CLIP	23824327
MIRT628333	hsa-miR-4672	HITS-CLIP	23824327
MIRT628332	hsa-miR-466	HITS-CLIP	23824327
MIRT704706	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT704705	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT704704	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT704703	hsa-miR-4521	HITS-CLIP	23313552
MIRT704702	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT704701	hsa-miR-4486	HITS-CLIP	23313552
MIRT704700	hsa-miR-661	HITS-CLIP	23313552
MIRT704699	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT704698	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT704696	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT704697	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT704695	hsa-miR-7703	HITS-CLIP	23313552
MIRT668989	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT648163	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT648162	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT648161	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT648160	hsa-miR-1825	HITS-CLIP	23824327
MIRT648159	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT648158	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT648157	hsa-miR-759	HITS-CLIP	23824327
MIRT628338	hsa-miR-8485	HITS-CLIP	23824327
MIRT628337	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628336	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628335	hsa-miR-603	HITS-CLIP	23824327
MIRT668988	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT628334	hsa-miR-3941	HITS-CLIP	23824327
MIRT628333	hsa-miR-4672	HITS-CLIP	23824327
MIRT628332	hsa-miR-466	HITS-CLIP	23824327
MIRT648163	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT648162	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT648161	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT648160	hsa-miR-1825	HITS-CLIP	23824327
MIRT648159	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT648158	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT648157	hsa-miR-759	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT628338	hsa-miR-8485	HITS-CLIP	23824327
MIRT628337	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628336	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628335	hsa-miR-603	HITS-CLIP	23824327
MIRT628334	hsa-miR-3941	HITS-CLIP	23824327
MIRT628333	hsa-miR-4672	HITS-CLIP	23824327
MIRT628332	hsa-miR-466	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT629791	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT629790	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT629789	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT629788	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT629787	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT628338	hsa-miR-8485	HITS-CLIP	23824327
MIRT628337	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628336	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628335	hsa-miR-603	HITS-CLIP	23824327
MIRT628334	hsa-miR-3941	HITS-CLIP	23824327
MIRT628333	hsa-miR-4672	HITS-CLIP	23824327
MIRT628332	hsa-miR-466	HITS-CLIP	23824327
MIRT891606	hsa-miR-409-3p	CLIP-seq
MIRT891607	hsa-miR-4452	CLIP-seq
MIRT891608	hsa-miR-548p	CLIP-seq
MIRT891609	hsa-miR-653	CLIP-seq
MIRT2200379	hsa-miR-629	CLIP-seq

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:0005886	Component	Plasma membrane	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0016020	Component	Membrane	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050890	Process	Cognition	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA

Other IDs

• MIM: 609756
• HGNC: 15781
• e!Ensembl: ENSG00000166664

Protein

• UniProt ID: Q494W8
• Protein name: CHRNA7-FAM7A fusion protein (CHRNA7-DR1) (D-10)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	15 → 140	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	147 → 397	Neurotransmitter-gated ion-channel transmembrane region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in hippocampus. {ECO:0000269|PubMed:9782083}.
• Sequence:

  MQKYCIYQHFQFQLLIQHLWIAANCDIADERFDATFHTNVLVNSSGHCQYLPPGIFKSSC
  YIDVRWFPFDVQHCKLKFGSWSYGGWSLDLQMQEADISGYIPNGEWDLVGIPGKRSERFY
  ECCKEPYPDVTFTVTMRRRTLYYGLNLLIPCVLISALALLVFLLPADSGEKISLGITVLL
  SLTVFMLLVAEIMPATSDSVPLIAQYFASTMIIVGLSVVVTVIVLQYHHHDPDGGKMPKW
  TRVILLNWCAWFLRMKRPGEDKVRPACQHKQRRCSLASVEMSAVAPPPASNGNLLYIGFR
  GLDGVHCVPTPDSGVVCGRMACSPTHDEHLLHGGQPPEGDPDLAKILEEVRYIANRFRCQ
  DESEAVCSEWKFAACVVDRLCLMAFSVFTIICTIGILMSAPNFVEAVSKDFA

• Sequence length: 412

Pathways

KEGG:

Calcium signaling pathway
Neuroactive ligand-receptor interaction
Cholinergic synapse
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Nicotine addiction
Chemical carcinogenesis - receptor activation

Reactome:

Highly calcium permeable postsynaptic 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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
15q13.3 microdeletion syndrome	15q13.3 microdeletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	18071042		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31096457		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	18848931		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19433665, 20061627, 22486522, 24391883, 24787912, 24951635, 27249957, 27565651, 31707211, 32582986, 32803965, 32818803	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	18071042		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	18071042		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	23227193, 27249957		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	18071042		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	18071042		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24787912		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29545933		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30029151		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	30029151	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19404936	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28045139		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	22420046, 22420048, 26651393, 27853923	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	11803515, 22420048, 26651393, 28045139		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory processing disorder	CTD_human_DG	10578459		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21996756, 27565651, 27853923, 34356041, 36750796	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22094647, 23350639, 25655306, 26257138		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	15046869		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	15046869		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21840925, 25655306		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	21840925, 26651393, 34320968, 34356041	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	23553139		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal frontal lobe epilepsy	Pubtator	23553139	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	14729237, 16823804, 18545269, 20463630, 21550667, 25701707, 26206074, 26297903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	14729237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16889592, 18545269, 20463630, 21550667, 22981153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	17192894	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	14729237, 28494468		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28077796, 37490473	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	14729237, 28494468		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25407004		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31096457	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome 15q13.3 Microdeletion Syndrome	15q13.3 Microdeletion Syndrome	ORPHANET_DG	22775350		★☆☆☆☆ Found in Text Mining only
Chromosome 15q13.3 Microdeletion Syndrome	15q13.3 Microdeletion Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25407004		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	10565853, 10942032, 11893908, 14996991, 9495872		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	21718690, 25701707		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24424125, 31707211	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17498763		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26719016		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28901507	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37828429	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	10565853, 10942032, 11893908, 14996991, 9495872		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	CTD_human_DG	22473653		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	CTD_human_DG	22473653		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37295770	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Vasospasm	Coronary vasospasm	Pubtator	35096275	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	18078695, 22300029, 26424395, 27249957		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	27249957	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	19641318, 27249957		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20506139, 26968334, 27853923, 34356041	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	23657883		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11771745		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33602248	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	18278044, 24024466, 34356041	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23929658, 24024466, 25701707		★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	19136953, 23553139, 24024466	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Akinetic	Epilepsy	CTD_human_DG	19136953		★☆☆☆☆ Found in Text Mining only
Epilepsy, Atonic	Epilepsy	CTD_human_DG	19136953		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	18458017, 26421493		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	CTD_human_DG	19136953		★☆☆☆☆ Found in Text Mining only
Epilepsy, Tonic	Epilepsy	CTD_human_DG	19136953		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	10565853, 10942032, 11893908, 14996991, 9495872		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27610024	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	18071042		★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	12512961		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized convulsive epilepsy	Epilepsy with tonic-clonic seizures	CTD_human_DG	19136953		★☆☆☆☆ Found in Text Mining only
Generalized Nonconvulsive Seizure Disorder	Nonconvulsive Seizure Disorder	CTD_human_DG	19136953		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	10565853, 10942032, 11893908, 14996991, 9495872		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20506139, 28345786		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	23270508	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	23454271	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	12049804, 19136953, 24024466		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20425840, 21718690, 24424125, 25701707		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20506139, 24424125, 27853923	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23350639, 24424125, 28345786		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	10565853, 10942032, 11893908, 14996991, 9495872		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	10206240, 12049804		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	12049804		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	23454271, 34356041	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	23350639		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	19641318		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	34088975	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	19040571		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	24089524		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24089524, 25407004	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	16823804		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	16823804		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	16823804		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	16823804		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	16823804		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	16823804		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	16823804		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30029151, 31352702, 31828948		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	24089524		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25407004		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29545933		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	18848931		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	25473097, 26206074, 26651393		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	14729617		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34563047	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	18078695		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	37295770	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28890319		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30944217		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26968334		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	16314871		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	18696274		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29545933		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31348980		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	LHGDN	18073210		★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	21812102		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25655306		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	19641318		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	18071042		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	18078695, 22300029, 26424395, 27249957		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	16889592, 18696274		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	LHGDN	17192894		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	17192894	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25407004	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	21840925, 25701707		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	21840925	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31279484		★☆☆☆☆ Found in Text Mining only
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	BEFREE	17192894		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10206225, 10893497, 11424985, 11803512, 11803513, 11803515, 12470124, 14582144, 15292665, 15531077, 16563701, 16823804, 16889592, 17012698, 17113175, 17192894, 17978319, 18043764, 18545269, 18696274, 19082523, 19149910, 19181484, 19631623, 19680823, 19909231, 20463630, 20728875, 21718690, 21970977, 21979958, 22981153, 23318559, 23598060, 24111888, 25056953, 25701707, 26206074, 26257138, 26376812, 26651393, 29305655, 30974230, 9754620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	11803513, 14582144, 15292665, 16417613, 17012698, 17192894, 17884806, 18393235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17192894, 20728875, 21979958, 23318559, 25681457, 25906356, 26651393, 26968334, 27565651, 29784875, 31707211, 32803965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19631623, 21970977, 21979958, 23598060, 25056953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia Childhood	Schizophrenia	Pubtator	26968334	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia, Catatonic	Schizophrenia	BEFREE	11840317		★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	BEFREE	26968334		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	18278044, 18805830, 24424125	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	20518839, 30944217, 30967878		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21596161		★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	23657883		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	23657883		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	10565853, 10942032, 11893908, 14996991, 9495872		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	15807899	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida Cystica	Spina Bifida Cystica	CTD_human_DG	22473653		★☆☆☆☆ Found in Text Mining only
Spina Bifida, Open	Spina Bifida	CTD_human_DG	22473653		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27610024		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31096457		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26136123	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	9389974	Stimulate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Symptomatic Generalized Epilepsy	Epilepsy	CTD_human_DG	19136953		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	10565853, 10942032, 11893908, 14996991, 9495872		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16803519	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	10565853, 10942032, 11893908, 14996991, 9495872		★☆☆☆☆ Found in Text Mining only