ANO1 (anoctamin 1)

Gene

• Entrez ID: 55107
• Gene name: Anoctamin 1
• Gene symbol: ANO1
• Synonyms (NCBI Gene): DOG1, INDMS, MYMY7, ORAOV2, TAOS2, TMEM16A
• Chromosome: 11
• Chromosome location: 11q13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018614	hsa-miR-335-5p	Microarray	18185580
MIRT022406	hsa-miR-124-3p	Microarray	18668037
MIRT785639	hsa-miR-1290	CLIP-seq
MIRT785640	hsa-miR-146b-3p	CLIP-seq
MIRT785641	hsa-miR-181a	CLIP-seq
MIRT785642	hsa-miR-181b	CLIP-seq
MIRT785643	hsa-miR-181c	CLIP-seq
MIRT785644	hsa-miR-181d	CLIP-seq
MIRT785645	hsa-miR-3167	CLIP-seq
MIRT785646	hsa-miR-3173-5p	CLIP-seq
MIRT785647	hsa-miR-3177-5p	CLIP-seq
MIRT785648	hsa-miR-3691-5p	CLIP-seq
MIRT785649	hsa-miR-3938	CLIP-seq
MIRT785650	hsa-miR-4262	CLIP-seq
MIRT785651	hsa-miR-4300	CLIP-seq
MIRT785652	hsa-miR-4456	CLIP-seq
MIRT785653	hsa-miR-4752	CLIP-seq
MIRT785654	hsa-miR-4763-5p	CLIP-seq
MIRT785655	hsa-miR-541	CLIP-seq
MIRT785656	hsa-miR-599	CLIP-seq
MIRT785657	hsa-miR-654-5p	CLIP-seq
MIRT785658	hsa-miR-670	CLIP-seq
MIRT785659	hsa-miR-671-5p	CLIP-seq
MIRT785660	hsa-miR-874	CLIP-seq
MIRT785661	hsa-miR-876-5p	CLIP-seq
MIRT785662	hsa-miR-920	CLIP-seq
MIRT1931762	hsa-miR-144	CLIP-seq
MIRT785641	hsa-miR-181a	CLIP-seq
MIRT785642	hsa-miR-181b	CLIP-seq
MIRT785643	hsa-miR-181c	CLIP-seq
MIRT785644	hsa-miR-181d	CLIP-seq
MIRT785647	hsa-miR-3177-5p	CLIP-seq
MIRT785650	hsa-miR-4262	CLIP-seq
MIRT1931763	hsa-miR-4649-3p	CLIP-seq
MIRT1931764	hsa-miR-582-3p	CLIP-seq
MIRT785656	hsa-miR-599	CLIP-seq
MIRT2172165	hsa-miR-1	CLIP-seq
MIRT2172166	hsa-miR-1179	CLIP-seq
MIRT2172167	hsa-miR-1280	CLIP-seq
MIRT2172168	hsa-miR-1321	CLIP-seq
MIRT2172169	hsa-miR-140-3p	CLIP-seq
MIRT1931762	hsa-miR-144	CLIP-seq
MIRT2172170	hsa-miR-147	CLIP-seq
MIRT2172171	hsa-miR-1913	CLIP-seq
MIRT2172172	hsa-miR-194	CLIP-seq
MIRT2172173	hsa-miR-206	CLIP-seq
MIRT2172174	hsa-miR-2115	CLIP-seq
MIRT2172175	hsa-miR-2276	CLIP-seq
MIRT2172176	hsa-miR-2355-3p	CLIP-seq
MIRT2172177	hsa-miR-298	CLIP-seq
MIRT2172178	hsa-miR-3144-5p	CLIP-seq
MIRT2172179	hsa-miR-3145-3p	CLIP-seq
MIRT2172180	hsa-miR-3150a-3p	CLIP-seq
MIRT2172181	hsa-miR-3162-5p	CLIP-seq
MIRT2172182	hsa-miR-3175	CLIP-seq
MIRT2172183	hsa-miR-3183	CLIP-seq
MIRT2172184	hsa-miR-3190	CLIP-seq
MIRT2172185	hsa-miR-3191	CLIP-seq
MIRT2172186	hsa-miR-324-3p	CLIP-seq
MIRT2172187	hsa-miR-330-3p	CLIP-seq
MIRT2172188	hsa-miR-3650	CLIP-seq
MIRT2172189	hsa-miR-3663-5p	CLIP-seq
MIRT2172190	hsa-miR-3665	CLIP-seq
MIRT2172191	hsa-miR-3678-3p	CLIP-seq
MIRT2172192	hsa-miR-370	CLIP-seq
MIRT2172193	hsa-miR-3911	CLIP-seq
MIRT2172194	hsa-miR-3921	CLIP-seq
MIRT2172195	hsa-miR-3934	CLIP-seq
MIRT2172196	hsa-miR-4317	CLIP-seq
MIRT2172197	hsa-miR-4474-3p	CLIP-seq
MIRT2172198	hsa-miR-4488	CLIP-seq
MIRT2172199	hsa-miR-4635	CLIP-seq
MIRT2172200	hsa-miR-4641	CLIP-seq
MIRT2172201	hsa-miR-4645-3p	CLIP-seq
MIRT2172202	hsa-miR-4646-3p	CLIP-seq
MIRT1931763	hsa-miR-4649-3p	CLIP-seq
MIRT2172203	hsa-miR-4652-5p	CLIP-seq
MIRT2172204	hsa-miR-4653-5p	CLIP-seq
MIRT2172205	hsa-miR-4667-5p	CLIP-seq
MIRT2172206	hsa-miR-4697-5p	CLIP-seq
MIRT2172207	hsa-miR-4700-5p	CLIP-seq
MIRT2172208	hsa-miR-4714-5p	CLIP-seq
MIRT2172209	hsa-miR-4715-5p	CLIP-seq
MIRT2172210	hsa-miR-4723-3p	CLIP-seq
MIRT2172211	hsa-miR-4731-5p	CLIP-seq
MIRT2172212	hsa-miR-4736	CLIP-seq
MIRT2172213	hsa-miR-4739	CLIP-seq
MIRT2172214	hsa-miR-4756-5p	CLIP-seq
MIRT2172215	hsa-miR-4760-5p	CLIP-seq
MIRT2172216	hsa-miR-4772-3p	CLIP-seq
MIRT2172217	hsa-miR-486-3p	CLIP-seq
MIRT2172218	hsa-miR-491-5p	CLIP-seq
MIRT2172219	hsa-miR-499-3p	CLIP-seq
MIRT2172220	hsa-miR-499a-3p	CLIP-seq
MIRT2172221	hsa-miR-5096	CLIP-seq
MIRT2172222	hsa-miR-516a-3p	CLIP-seq
MIRT2172223	hsa-miR-518a-5p	CLIP-seq
MIRT2172224	hsa-miR-527	CLIP-seq
MIRT2172225	hsa-miR-544	CLIP-seq
MIRT2172226	hsa-miR-596	CLIP-seq
MIRT2172227	hsa-miR-613	CLIP-seq
MIRT2172228	hsa-miR-644	CLIP-seq
MIRT785658	hsa-miR-670	CLIP-seq
MIRT2172229	hsa-miR-711	CLIP-seq
MIRT2172230	hsa-miR-939	CLIP-seq
MIRT2172171	hsa-miR-1913	CLIP-seq
MIRT2172186	hsa-miR-324-3p	CLIP-seq
MIRT2172189	hsa-miR-3663-5p	CLIP-seq
MIRT2172200	hsa-miR-4641	CLIP-seq
MIRT2172171	hsa-miR-1913	CLIP-seq
MIRT2172186	hsa-miR-324-3p	CLIP-seq
MIRT2172189	hsa-miR-3663-5p	CLIP-seq
MIRT2172200	hsa-miR-4641	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005227	Function	Calcium-activated cation channel activity	IDA	22946059
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IBA
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	21984732
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IEA
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IMP	22178883, 22946059, 37253099
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	ISS
GO:0005247	Function	Voltage-gated chloride channel activity	ISS
GO:0005254	Function	Chloride channel activity	IDA	32487539
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	IMP	24885604, 28963502
GO:0005254	Function	Chloride channel activity	TAS
GO:0005515	Function	Protein binding	IPI	22178883
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21984732, 22178883, 22946059, 28559167
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IMP	28963502
GO:0006821	Process	Chloride transport	ISS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS
GO:0015111	Function	Iodide transmembrane transporter activity	IMP	25201006
GO:0015705	Process	Iodide transport	IMP	25201006
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	25201006, 31732694, 32487539
GO:0016324	Component	Apical plasma membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034605	Process	Cellular response to heat	ISS
GO:0034707	Component	Chloride channel complex	IEA
GO:0042802	Function	Identical protein binding	IPI	28559167
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070254	Process	Mucus secretion	IMP	33026825
GO:0070254	Process	Mucus secretion	ISS
GO:0072657	Process	Protein localization to membrane	IMP	28963502
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098793	Component	Presynapse	IEA
GO:0106091	Process	Glial cell projection elongation	ISS
GO:1901653	Process	Cellular response to peptide	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	32487539
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IMP	22946059, 24885604

Other IDs

• MIM: 610108
• HGNC: 21625
• e!Ensembl: ENSG00000131620

Protein

• UniProt ID: Q5XXA6
• Protein name: Anoctamin-1 (Discovered on gastrointestinal stromal tumors protein 1) (Oral cancer overexpressed protein 2) (Transmembrane protein 16A) (Tumor-amplified and overexpressed sequence 2)
• Protein function: Calcium-activated chloride channel (CaCC) (PubMed:20056604, PubMed:22178883, PubMed:22946059, PubMed:32487539). Plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitia
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16178	Anoct_dimer	54 → 317	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family
  PF04547	Anoctamin	320 → 926	Calcium-activated chloride channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in nasal epithelial cells (at protein level) (PubMed:32487539). In the kidney, expressed in the collecting duct (at protein level) (PubMed:24913262). Broadly expressed with higher levels in liver, skeletal muscle and gastroin
• Sequence:

  MRVNEKYSTLPAEDRSVHIINICAIEDIGYLPSEGTLLNSLSVDPDAECKYGLYFRDGRR
  KVDYILVYHHKRPSGNRTLVRRVQHSDTPSGARSVKQDHPLPGKGASLDAGSGEPPMDYH
  EDDKRFRREEYEGNLLEAGLELERDEDTKIHGVGFVKIHAPWNVLCREAEFLKLKMPTKK
  MYHINETRGLLKKINSVLQKITDPIQPKVAEHRPQTMKRLSYPFSREKQHLFDLSDKDSF
  FDSKTRSTIVYEILKRTTCTKAKYSMGITSLLANGVYAAAYPLHDGDYNGENVEFNDRKL
  LYEEWARYGVFYKYQPIDLVRKYFGEKIGLYFAWLGVYTQMLIPASIVGIIVFLYGCATM
  DENIPSMEMCDQRHNITMCPLCDKTCSYWKMSSACATARASHLFDNPATVFFSVFMALWA
  ATFMEHWKRKQMRLNYRWDLTGFEEEEEAVKDHPRAEYEARVLEKSLKKESRNKEKRRHI
  PEESTNKWKQRVKTAMAGVKLTDKVKLTWRDRFPAYLTNLVSIIFMIAVTFAIVLGVIIY
  RISMAAALAMNSSPSVRSNIRVTVTATAVIINLVVIILLDEVYGCIARWLTKIEVPKTEK
  SFEERLIFKAFLLKFVNSYTPIFYVAFFKGRFVGRPGDYVYIFRSFRMEECAPGGCLMEL
  CIQLSIIMLGKQLIQNNLFEIGIPKMKKLIRYLKLKQQSPPDHEECVKRKQRYEVDYNLE
  PFAGLTPEYMEMIIQFGFVTLFVASFPLAPLFALLNNIIEIRLDAKKFVTELRRPVAVRA
  KDIGIWYNILRGIGKLAVIINAFVISFTSDFIPRLVYLYMYSKNGTMHGFVNHTLSSFNV
  SDFQNGTAPNDPLDLGYEVQICRYKDYREPPWSENKYDISKDFWAVLAARLAFVIVFQNL
  VMFMSDFVDWVIPDIPKDISQQIHKEKVLMVELFMREEQDKQQLLETWMEKERQKDEPPC
  NHHNTKACPDSLGSPAPSHAYHGGVL

• Sequence length: 986

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ANO1-related fatal neonatal disease due to impaired chloride currents	Likely pathogenic	rs2135625521	RCV002052119	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moyamoya disease 7	Pathogenic	rs2497233087, rs2497302924	RCV003493375 RCV003493376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL MICROSOMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal dysmotility syndrome	Uncertain significance	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MOYAMOYA DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	29018259, 30370542		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	28394798, 31629156		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	BEFREE	31629156		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	28546154, 29976084		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35316222	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplasia	Anaplasia	BEFREE	31072206		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	24379641	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	37253099	Associate	★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	28027799		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25163766		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	37253099	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28413214	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11694454, 11842292, 28109183, 28754608, 30336555, 30586313, 30837866, 31229561, 31391337		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	31094926		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	31629156		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	26153424		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33842002	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23431153, 23866066, 27838298, 28177558, 28293832, 29156699, 29416639, 31042586		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23866066, 24886289, 27041791, 29949674, 34717148	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25961581	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	BEFREE	31747299		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27732935	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22912841, 26305547, 26569161, 27838298, 30347323		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	34717148	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	22460810	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	26464669	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	24886289	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26305547, 30821158		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25163766, 34717148	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34717148	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	25674291		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30243029		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	21092923	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	35316222	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37219012	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	29360145		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17637221		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30982243, 31383845		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31802939		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34717148, 36518255	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23593331, 25541940, 26868958, 27661117, 30803553, 30816505, 31383845		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25541940, 26868958, 34192810, 35373573	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chloride diarrhea	Congenital chloride diarrhea	Pubtator	36162332	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	24152967		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	15218996, 22973054, 25268501, 36162332, 37967223	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21056985, 21108631, 21658632, 24080196, 24704530, 27682822, 28124133, 28420732, 28955034, 29154949, 29860639, 30515811, 30761000, 30915480, 31747299		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	35316222	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28203258		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28203258, 31299174		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28392397		★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30651795		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	31647967		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	37652141	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	30606785		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30243029		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30515811		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	27016410	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30515811		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18405350, 18981721, 27016410, 31793228, 37635445	Associate	★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	31629156		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	24145645		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	15215166		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	29052298	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	37341301	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15215166, 18223323, 18648740, 20571340, 20716168, 21358619, 21400668, 21666577, 21668468, 22197035, 22593460, 22912841, 23218903, 23576565, 23862765, 24379641, 24938355, 25766843, 26191287, 26243012, 26678977, 26867653, 27153560, 27178821, 28820749, 28915565, 28965630, 29018259, 29237476, 29239034, 29245294, 29318761, 29416639, 29472628, 29486292, 29507015, 30018476, 30515811, 30880769, 30893776, 31072206, 31100836, 31262867, 31266974, 31273885, 31387778, 31497448, 31698512		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	15215166, 21358619, 22460810, 22799337, 22912841, 24379641, 25674291, 26867653, 27041791, 27153560, 27178821, 28044310, 28288036, 29018259, 31062732, 31266974, 34717148, 37545902	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	19011564		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	30843201		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27212225, 32357567	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28293832		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28293832		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24401903		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25823819, 26808319, 31790150		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	31790150	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27041791	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	26510736		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33842002	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	33842002	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28320851, 28493701, 30707220, 30710335, 31023847, 31301303, 31484993		★☆☆☆☆ Found in Text Mining only
Hypertensive Retinopathy	Hypertensive Retinopathy	BEFREE	30707220		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35711425	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29434696, 31023847		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30144053		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	31023847		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31782602		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	29764851		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	30586313		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28315973, 29430647		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30155840		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31447648		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	29189258		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	29189258		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	29189258		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	31257512		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30761000		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30821158		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36674697	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	BEFREE	9276407		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25823819, 26808319, 31790150		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23431153, 23866066, 27838298, 28177558, 28293832, 29156699, 31042586		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30651795		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30515811		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	15942670		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26305547, 30821158		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30243029		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31182586		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28362855, 29899325, 30347323		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25839162, 28193228, 30871776		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21642943, 22564524, 22912841, 23431153, 23866066, 24599954, 24639373, 25541940, 26569161, 27682822, 27732935, 28293832, 28299581, 28362855, 28394798, 28452066, 28493701, 28893247, 28899969, 29154949, 29416639, 29466035, 30243029, 30347323, 31177170, 31279157		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31802939		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20875871, 23431153, 23866066		★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	21997692	Associate	★☆☆☆☆ Found in Text Mining only
Miyoshi Muscular Dystrophy 3	Miyoshi Muscular Dystrophy	BEFREE	20096397		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	37253099	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	31629156		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	20096397, 21186264, 21642943		★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	31328572		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	15942670		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20571340, 22564524, 22912841, 23057997, 23431153, 23866066, 24009147, 24080196, 24186140, 24379641, 24401903, 24919570, 24938355, 25766843, 26089091, 26191287, 26243012, 26305547, 26498851, 26678977, 26867653, 27153560, 27732935, 27750372, 28177558, 28193228, 28293832, 28299581, 28394798, 28493701, 28899969, 29375216, 29416639, 29437784, 29899325, 30243029, 30445975, 30803553, 31072206, 31262867, 31273885, 31383845, 31497448		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31328572		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	15215166		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31263784	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28299581		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	31042586		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	31094926		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	BEFREE	23843187		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31230749		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30243029		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31182586		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25163766		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30416314, 31182586, 33901011, 34290570, 37170188	Associate	★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	29318761		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	30606785		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	24152967		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	29434696		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28362855, 29899325		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	26153424		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36674697	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38168913	Stimulate	★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30837866		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	30837866		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	38168913	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	22460810, 26464669	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	23431153, 23576565, 28965630		★☆☆☆☆ Found in Text Mining only
Scott Syndrome	Scott Syndrome	BEFREE	21642943		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	31257512		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31174089		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	BEFREE	24152967, 30606785		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	15215166, 18648740		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24316695, 26498851		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31050728, 31793228		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20664600, 22912841, 24316695, 25823819, 26498851, 27750372, 29123240, 31790150, 32380794, 35286200, 35361159, 36674697	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26563938, 36389709	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20664600, 22564524, 22912841, 24919570, 26498851, 26563938, 26808319, 28177558, 29123240, 30515811, 31790150		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25839162, 28193228, 30871776		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25839162, 32147682, 34717148	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	35316222	Associate	★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	BEFREE	18585372, 21115851		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24145645		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	33842002	Associate	★☆☆☆☆ Found in Text Mining only