CTNNA3 (catenin alpha 3)

Gene

• Entrez ID: 29119
• Gene name: Catenin alpha 3
• Gene symbol: CTNNA3
• Synonyms (NCBI Gene): ARVD13, VR22
• Chromosome: 10
• Chromosome location: 10q21.3
• Summary: This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alte

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs187752783	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs587777134	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs587777135	CAA>-	Pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT643582	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT643581	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT643580	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT643579	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT643578	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT643577	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT643576	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT643575	hsa-miR-548aa	HITS-CLIP	23824327
MIRT643574	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT643573	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT643572	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT643571	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT643570	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT442971	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT643569	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT643568	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT643567	hsa-miR-6072	HITS-CLIP	23824327
MIRT643566	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT643565	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT442974	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT442973	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT442972	hsa-miR-1295b-3p	PAR-CLIP	22100165
MIRT442971	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT442970	hsa-miR-3065-5p	PAR-CLIP	22100165
MIRT442969	hsa-miR-4470	PAR-CLIP	22100165
MIRT442968	hsa-miR-5704	PAR-CLIP	22100165
MIRT442967	hsa-miR-182-5p	PAR-CLIP	22100165
MIRT643582	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT643581	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT643580	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT643579	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT643578	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT643577	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT643576	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT643575	hsa-miR-548aa	HITS-CLIP	23824327
MIRT643574	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT643573	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT643572	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT643571	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT643570	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT442971	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT643569	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT643568	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT643567	hsa-miR-6072	HITS-CLIP	23824327
MIRT643566	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT643565	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT442974	hsa-miR-4717-5p	PAR-CLIP	22100165
MIRT442973	hsa-miR-15a-3p	PAR-CLIP	22100165
MIRT442972	hsa-miR-1295b-3p	PAR-CLIP	22100165
MIRT442971	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT442970	hsa-miR-3065-5p	PAR-CLIP	22100165
MIRT442969	hsa-miR-4470	PAR-CLIP	22100165
MIRT442968	hsa-miR-5704	PAR-CLIP	22100165
MIRT442967	hsa-miR-182-5p	PAR-CLIP	22100165
MIRT914925	hsa-miR-140-5p	CLIP-seq
MIRT914926	hsa-miR-190	CLIP-seq
MIRT914927	hsa-miR-190b	CLIP-seq
MIRT914928	hsa-miR-3545-5p	CLIP-seq
MIRT914929	hsa-miR-3622a-5p	CLIP-seq
MIRT914930	hsa-miR-3668	CLIP-seq
MIRT914931	hsa-miR-3689a-5p	CLIP-seq
MIRT914932	hsa-miR-3689b	CLIP-seq
MIRT914933	hsa-miR-3689e	CLIP-seq
MIRT914934	hsa-miR-3689f	CLIP-seq
MIRT914935	hsa-miR-4423-3p	CLIP-seq
MIRT914936	hsa-miR-4460	CLIP-seq
MIRT914937	hsa-miR-4645-3p	CLIP-seq
MIRT2510203	hsa-miR-1290	CLIP-seq
MIRT914929	hsa-miR-3622a-5p	CLIP-seq
MIRT914935	hsa-miR-4423-3p	CLIP-seq
MIRT2510203	hsa-miR-1290	CLIP-seq
MIRT914929	hsa-miR-3622a-5p	CLIP-seq
MIRT914935	hsa-miR-4423-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11590244, 22190034, 23136403, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0005916	Component	Fascia adherens	IBA
GO:0005916	Component	Fascia adherens	IDA	11590244
GO:0005916	Component	Fascia adherens	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IPI	23136403
GO:0016477	Process	Cell migration	IBA
GO:0030027	Component	Lamellipodium	IEA
GO:0030057	Component	Desmosome	IEA
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	TAS	11590244
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	23136403
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	23136403
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IPI	11590244
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	23136403

Other IDs

• MIM: 607667
• HGNC: 2511
• e!Ensembl: ENSG00000183230

Protein

• UniProt ID: Q9UI47
• Protein name: Catenin alpha-3 (Alpha T-catenin) (Cadherin-associated protein)
• Protein function: May be involved in formation of stretch-resistant cell-cell adhesion complexes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01044	Vinculin	17 → 334	Vinculin family	Family
  PF01044	Vinculin	328 → 856	Vinculin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle. {ECO:0000269|PubMed:11590244}.
• Sequence:

  MSAETPITLNIDPQDLQVQTFTVEKLLEPLIIQVTTLVNCPQNPSSRKKGRSKRASVLLA
  SVEEATWNLLDKGEKIAQEATVLKDELTASLEEVRKESEALKVSAERFTDDPCFLPKREA
  VVQAARALLAAVTRLLILADMIDVMCLLQHVSAFQRTFESLKNVANKSDLQKTYQKLGKE
  LENLDYLAFKRQQDLKSPNQRDEIAGARASLKENSPLLHSICSACLEHSDVASLKASKDT
  VCEEIQNALNVISNASQGIQNMTTPPEPQAATLGSALDELENLIVLNPLTVTEEEIRPSL
  EKRLEAIISGAALLADSSCTRDLHRERIIAECNAIRQALQDLLSEYMNNAGKKERSNTLN
  IALDNMCKKTRDLRRQLRKAIIDHVSDSFLDTTVPLLVLIEAAKNGREKEIKEYAAIFHE
  HTSRLVEVANLACSMSTNEDGIKIVKIAANHLETLCPQIINAALALAARPKSQAVKNTME
  MYKRTWENHIHVLTEAVDDITSIDDFLAVSESHILEDVNKCIIALRDQDADNLDRAAGAI
  RGRAARVAHIVTGEMDSYEPGAYTEGVMRNVNFLTSTVIPEFVTQVNVALEALSKSSLNV
  LDDNQFVDISKKIYDTIHDIRCSVMMIRTPEELEDVSDLEEEHEVRSHTSIQTEGKTDRA
  KMTQLPEAEKEKIAEQVADFKKVKSKLDAEIEIWDDTSNDIIVLAKNMCMIMMEMTDFTR
  GKGPLKHTTDVIYAAKMISESGSRMDVLARQIANQCPDPSCKQDLLAYLEQIKFYSHQLK
  ICSQVKAEIQNLGGELIMSALDSVTSLIQAAKNLMNAVVQTVKMSYIASTKIIRIQSPAG
  PRHPVVMWRMKAPAKKPLIKREKPEETCAAVRRGSAKKKIHPLQVMSEFRGRQIY

• Sequence length: 895

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
Arrhythmogenic right ventricular cardiomyopathy	Pathogenic	rs587777135	RCV000487676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular dysplasia 13	Pathogenic; Likely pathogenic	rs587777134, rs587777135, rs2493164118	RCV000087056 RCV000087057 RCV003334464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Likely pathogenic	rs2492219063	RCV003318462	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs759618368	RCV002276252	★★★★☆ 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
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN COMPRESSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CTNNA3-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACIC AORTIC ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	14559775, 16199552, 17209133, 23978990	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	14559775, 16770605, 17761686, 18163421, 23750206		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	34469433	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	22738016	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	33497884	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	21254927, 23136403, 25676813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	25837155, 33497884	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	35628349	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13	Arrhythmogenic right ventricular cardiomyopathy	UNIPROT_DG	23136403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	ORPHANET_DG	23136403		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	26626624		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19187332, 21325943, 22977168, 24407380, 26073756, 28481622		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	CTD_human_DG	19187332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	22977168, 26073756	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma Occupational	Asthma	Pubtator	22977168	Associate	★☆☆☆☆ Found in Text Mining only
Asthma, Occupational	Asthma	BEFREE	25430950		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	7669572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	31539150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	22738016, 25574603	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28378413		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	GWASCAT_DG	23897914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	GWASDB_DG	23897914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bundle-Branch Block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24100690		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28378413, 31828778		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25837155	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28934278	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	12596047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	12596047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12596047, 28934278		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	24407380		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24317174		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28472932		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35327643	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34717601	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31520154		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	20400461		★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	22738016	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	GWASCAT_DG	27797806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Essential tremor	Pubtator	27797806, 28801652	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Tremor	BEFREE	28801652, 29899728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	23913621		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	7669572		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	7669572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Defects Congenital	Congenital heart defect	Pubtator	28472932	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28699631		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28378413		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	24100690	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26882563		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	GWASDB_DG	23583980		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	GWASCAT_DG	23583980		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12800191, 17366617		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21521850		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26507551, 30781968	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26507551, 30781968		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20546594, 31170158	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	30420678		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	30420678	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17366617, 18618575, 20596253, 23303473, 24100690, 26882563		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	18618575		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28796060		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	17052657		★☆☆☆☆ Found in Text Mining only
Peripheral Nerve Sheath Neoplasm	Peripheral Nerve Sheath Neoplasm	BEFREE	27765635		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	20596253		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	34717601	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	36951526	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23358160, 25781172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	23358160, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	33914752	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24100690	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	17366617		★☆☆☆☆ Found in Text Mining only