EDNRA (endothelin receptor type A)

Gene

• Entrez ID: 1909
• Gene name: Endothelin receptor type A
• Gene symbol: EDNRA
• Synonyms (NCBI Gene): ET-A, ETA, ETA-R, ETAR, ETRA, MFDA, hET-AR
• Chromosome: 4
• Chromosome location: 4q31.22-q31.23
• Summary: This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium sec

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205230	A>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs876657388	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005749	hsa-miR-203a-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT005753	hsa-miR-27b-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT005756	hsa-miR-224-5p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT007344	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western blot	23272142
MIRT952750	hsa-miR-1256	CLIP-seq
MIRT740098	hsa-miR-1263	CLIP-seq
MIRT952751	hsa-miR-151-3p	CLIP-seq
MIRT952752	hsa-miR-3650	CLIP-seq
MIRT952753	hsa-miR-4265	CLIP-seq
MIRT952754	hsa-miR-4296	CLIP-seq
MIRT952755	hsa-miR-4299	CLIP-seq
MIRT952756	hsa-miR-4322	CLIP-seq
MIRT952757	hsa-miR-4456	CLIP-seq
MIRT952758	hsa-miR-489	CLIP-seq
MIRT952759	hsa-miR-520d-5p	CLIP-seq
MIRT952760	hsa-miR-524-5p	CLIP-seq
MIRT952761	hsa-miR-548q	CLIP-seq
MIRT952762	hsa-miR-555	CLIP-seq
MIRT952763	hsa-miR-668	CLIP-seq
MIRT952764	hsa-miR-676	CLIP-seq
MIRT740098	hsa-miR-1263	CLIP-seq
MIRT952765	hsa-miR-1266	CLIP-seq
MIRT740100	hsa-miR-3143	CLIP-seq
MIRT740101	hsa-miR-323-3p	CLIP-seq
MIRT952766	hsa-miR-3646	CLIP-seq
MIRT952767	hsa-miR-3664-3p	CLIP-seq
MIRT952768	hsa-miR-425	CLIP-seq
MIRT952769	hsa-miR-4269	CLIP-seq
MIRT952770	hsa-miR-4424	CLIP-seq
MIRT952771	hsa-miR-4514	CLIP-seq
MIRT952772	hsa-miR-4518	CLIP-seq
MIRT952773	hsa-miR-4692	CLIP-seq
MIRT952774	hsa-miR-4742-5p	CLIP-seq
MIRT740102	hsa-miR-4789-3p	CLIP-seq
MIRT740099	hsa-miR-543	CLIP-seq
MIRT740103	hsa-miR-642b	CLIP-seq
MIRT1982135	hsa-miR-3074-3p	CLIP-seq
MIRT2448669	hsa-miR-361-5p	CLIP-seq
MIRT2448670	hsa-miR-4735-5p	CLIP-seq
MIRT2448671	hsa-miR-4795-3p	CLIP-seq
MIRT2448672	hsa-miR-545	CLIP-seq
MIRT2521100	hsa-miR-137	CLIP-seq
MIRT2521101	hsa-miR-200b	CLIP-seq
MIRT2521102	hsa-miR-200c	CLIP-seq
MIRT2521103	hsa-miR-429	CLIP-seq
MIRT2521104	hsa-miR-488	CLIP-seq
MIRT2521105	hsa-miR-548n	CLIP-seq
MIRT2521106	hsa-miR-554	CLIP-seq
MIRT2521100	hsa-miR-137	CLIP-seq
MIRT2521101	hsa-miR-200b	CLIP-seq
MIRT2521102	hsa-miR-200c	CLIP-seq
MIRT2679773	hsa-miR-3160-5p	CLIP-seq
MIRT2521103	hsa-miR-429	CLIP-seq
MIRT2679774	hsa-miR-4686	CLIP-seq
MIRT2521106	hsa-miR-554	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003015	Process	Heart process	IEA
GO:0003094	Process	Glomerular filtration	IEA
GO:0003207	Process	Cardiac chamber formation	IEA
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	IEA
GO:0003228	Process	Atrial cardiac muscle tissue development	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003357	Process	Noradrenergic neuron differentiation	IEA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	TAS	8702836
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004962	Function	Endothelin receptor activity	IBA
GO:0004962	Function	Endothelin receptor activity	IEA
GO:0004962	Function	Endothelin receptor activity	NAS	8611157, 9284755
GO:0005515	Function	Protein binding	IPI	19202075, 23597562
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1326535
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	30990108
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006939	Process	Smooth muscle contraction	NAS	9284755
GO:0006939	Process	Smooth muscle contraction	TAS	8114678
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	1326535
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	8611157
GO:0007190	Process	Activation of adenylate cyclase activity	TAS	8702836
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	8702836
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	TAS	1849646
GO:0007411	Process	Axon guidance	IEA
GO:0007507	Process	Heart development	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	ISS
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008283	Process	Cell population proliferation	TAS	8702836
GO:0009611	Process	Response to wounding	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010827	Process	Regulation of D-glucose transmembrane transport	IEA
GO:0014032	Process	Neural crest cell development	IEA
GO:0014033	Process	Neural crest cell differentiation	IEA
GO:0014034	Process	Neural crest cell fate commitment	IEA
GO:0014824	Process	Artery smooth muscle contraction	IMP	8982507
GO:0014829	Process	Vascular associated smooth muscle contraction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016322	Process	Neuron remodeling	IEA
GO:0030202	Process	Heparin proteoglycan metabolic process	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0032835	Process	Glomerulus development	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035904	Process	Aorta development	IEA
GO:0042310	Process	Vasoconstriction	IBA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042310	Process	Vasoconstriction	IMP	8982507
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0044751	Process	Cellular response to human chorionic gonadotropin stimulus	IEA
GO:0048066	Process	Developmental pigmentation	IBA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048675	Process	Axon extension	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060322	Process	Head development	IEA
GO:0060324	Process	Face development	IEA
GO:0060385	Process	Axonogenesis involved in innervation	IEA
GO:0061028	Process	Establishment of endothelial barrier	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IEA
GO:0071373	Process	Cellular response to luteinizing hormone stimulus	IEA
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0072011	Process	Glomerular endothelium development	IEA
GO:0072112	Process	Podocyte differentiation	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IBA
GO:0086100	Process	Endothelin receptor signaling pathway	IEA
GO:0086101	Process	Endothelin receptor signaling pathway involved in heart process	IEA
GO:0097018	Process	Renal albumin absorption	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:0097237	Process	Cellular response to toxic substance	IEA
GO:0097492	Process	Sympathetic neuron axon guidance	IEA
GO:0141156	Process	CAMP/PKA signal transduction	IDA	30990108
GO:1902287	Process	Semaphorin-plexin signaling pathway involved in axon guidance	IEA
GO:1903210	Process	Podocyte apoptotic process	IEA
GO:1903537	Process	Meiotic cell cycle process involved in oocyte maturation	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1905144	Process	Response to acetylcholine	IEA
GO:1905871	Process	Regulation of protein localization to cell leading edge	IEA
GO:2001259	Process	Positive regulation of cation channel activity	IDA	30990108

Other IDs

• MIM: 131243
• HGNC: 3179
• e!Ensembl: ENSG00000151617

Protein

• UniProt ID: P25101
• Protein name: Endothelin-1 receptor (Endothelin receptor type A) (ET-A) (ETA-R) (hET-AR)
• Protein function: Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.
• PDB: 8HCQ, 8XVI, 8XVJ, 8XVK, 8XVL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	97 → 370	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, col
• Sequence:

  METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLP
  SNGSMHNYCPQQTKITSAFKYINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIA
  SLALGDLIYVVIDLPINVFKLLAGRWPFDHNDFGVFLCKLFPFLQKSSVGITVLNLCALS
  VDRYRAVASWSRVQGIGIPLVTAIEIVSIWILSFILAIPEAIGFVMVPFEYRGEQHKTCM
  LNATSKFMEFYQDVKDWWLFGFYFCMPLVCTAIFYTLMTCEMLNRRNGSLRIALSEHLKQ
  RREVAKTVFCLVVIFALCWFPLHLSRILKKTVYNEMDKNRCELLSFLLLMDYIGINLATM
  NSCINPIALYFVSKKFKNCFQSCLCCCCYQSKSLMTSVPMNGTSIQWKNHDQNNHNTDRS
  SHKDSMN

• Sequence length: 427

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
Vascular smooth muscle contraction
Renin secretion
Pathways in cancer

Reactome:

Peptide ligand-binding receptors
G alpha (q) signalling events

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
Mandibulofacial dysostosis with alopecia	Pathogenic	rs786205230, rs876657388	RCV000170509 RCV000170510	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDNRA-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with or without aura, susceptibility to, 1	Benign; Likely benign	ClinVar CTD, ClinVar CTD, ClinVar	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Migraine, resistance to	protective	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DUCTAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA, OBSTRUCTIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrodysostosis	Acrodysostosis	BEFREE	22723333, 23043190		★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	22691887, 23754170		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	29531354		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	8702478		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27588474, 28428987		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	29971639		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28653505		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11711511, 7721442		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	12368197		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28428987		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24252460		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11092974		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GENOMICS_ENGLAND_DG	20583178		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19541930	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27248167, 28360038		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	20705147, 23103692, 25740197		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	20705147, 23103692, 25740197		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	11027943, 29393391		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	19008257		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16300798, 19840952, 23902937, 24795506, 27811230, 29991487, 31191301, 31500846, 31710686		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19247167, 30576947		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11728229, 15764725, 15947423, 17154652, 18588753, 20705147, 21392828, 28754608, 30335499, 9988131		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	17470272, 18588753	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	7609093		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16300798, 19840952, 23902937, 24795506, 27811230, 29991487, 31191301, 31500846, 31710686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	40076930	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21499268, 22897819, 28912643, 28948080		★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	10770217		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28763059		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12086852, 25293589, 25354317, 30409535, 30510193, 30827936		★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypocalcemia	Hypocalcemia	BEFREE	10770217		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	27339034		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	12368197		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	18386288		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25175477		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	29131071		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	12808434		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29949238		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11897506, 15226779, 15753989, 16397244, 19584257, 19622769, 23500535, 24599592, 26985934, 28209621, 30760632, 9367686		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15226779, 21424380, 26703564, 9459150	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	12808434		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	30670596		★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	CTD_human_DG	17032313		★☆☆☆☆ Found in Text Mining only
Capillary Leak Syndrome	Capillary leak syndrome	Pubtator	26176954	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20452970	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28249901	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25394359		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28812426	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24373848	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25175477		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22715397, 28849235, 30321617		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24530737	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	25172843		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10537322, 17442564, 19010824, 19331211, 25194819, 28758529		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12099722		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	11601839, 17198909		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10217651, 10529327, 17198909		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11425780, 20083432, 24795506, 26248277, 29166798, 29848777, 31236974		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	22691887		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	31306060	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Vasospasm	Cerebral Vasospasm	BEFREE	30244111		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	31306060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	12046734		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	19460784	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28428987		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24252460		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	25001852		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	18362896		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	31785110		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	21894000		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28005706, 29947528, 31770762		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21936770, 24901342		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11583963, 9647333		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28877377, 30811196		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31132237		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27778057		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20979106, 29971639		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25701758, 28708138, 28875496		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28708138, 31500382, 36453252, 38123303	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	20964792		★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	8988087		★☆☆☆☆ Found in Text Mining only
Congenital bilateral aplasia of vas deferens	Congenital bilateral absence of vas deferens	Pubtator	20100616	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	24352915, 9473106		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	9811577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	20583178		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10529327, 11906480, 15225142, 16501306, 16582543, 20100464, 21622221, 24702056, 27297948, 28095452, 28698218, 29166798, 30171848, 30538174, 30538631, 31236974, 31785110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	28095452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conn Adenoma	Conn Adenoma	BEFREE	28870781		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16581180, 23969937		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19653178		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19653178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	19653178, 26283027		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	16687567, 16926383, 17028442, 18161478, 21467199		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	19460784, 20028935, 28289476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20028935, 27471203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	10090156		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28229904, 29305581, 31076569		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	26576537		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30733609		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21392828		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16300798, 17016617, 21392828, 28358422		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22326504	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16300798, 19476565, 19653178		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16387788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18037923, 20816753, 23226241, 24946790, 28105282, 28363772, 28734639, 29466332, 29684031, 30154102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	16300798		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	19460784	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22250646	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	12107237		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	24291390		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19331211		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	33837257	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16239258, 23235274		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36542159	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	7819049	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	23458722		★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	26854024		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	17442564, 19331211		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	CTD_human_DG	18823320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	BEFREE	14616768, 25732908, 8587478		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	12193114		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	15988412	Associate	★☆☆☆☆ Found in Text Mining only
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	BEFREE	20846291		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28233865		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	7958393		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	15988412		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	LHGDN	15988412, 16971893		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	15988412	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	23206929		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11092528, 17611713, 21503828, 24790104, 28051998, 29274786, 29949238		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11092528, 17611713, 21503828, 21900396, 24790104, 28051998, 29949238		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18991757, 30638950		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31734650	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	22250646	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	23039881, 24291390		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	24815860		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	21498912, 26283027	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10529327, 11906480, 15225142, 16501306, 16582543, 20100464, 21622221, 24702056, 27297948, 28095452, 28698218, 29166798, 30171848, 30538174, 30538631, 31236974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	LHGDN	14729387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	28095452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	28095452	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	28095452		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	30541874		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	10087195		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	24465776		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	8001158		★☆☆☆☆ Found in Text Mining only
Humoral hypercalcemia of malignancy (disorder)	Humoral Hypercalcemia Of Malignancy	BEFREE	29277692		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20708032, 8626439		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	30115739		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	17016617, 28338186		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	38123303	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29022064		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36739654	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	24465776	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11425780, 15225142, 16439609, 16481879, 16769575, 18172451, 18370232, 19577709, 19653178, 22372527, 25150869, 25424718, 28412414, 29446710, 29947537, 30075183, 31593221, 8941655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	12600921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	15838366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	19593212	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	29669745		★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	15598687, 17164310		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	30975883		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOTRICHOSIS 8	Hypotrichosis	BEFREE	18461368		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31734650	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	15598687		★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30672385		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	21773759, 25131455, 26018988, 29475138, 30975046, 31118151		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	22106312, 22286173, 31295611		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	22106312, 31250579	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31272268		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	24633486, 25937634		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	18285834, 24830383		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10364352, 10438939, 10662620, 11238033, 11289142, 11418689, 11504542, 12620408, 15003988, 16904612, 17329974, 17483315, 17881360, 18802460, 19915163, 20213674, 20660728, 20818438, 21159881, 21559457, 22942256, 23269549, 24292677, 28161489, 30308321, 31838186, 8892957		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	LHGDN	12875994		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	17872384		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12629276, 22372527, 28596381, 30305310		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	21894000		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	15097244		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	28095452		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15143072		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24901342	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15039279, 26220344, 28428987, 30223538, 30384975, 31032748		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11092974		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11583963, 17259344, 29704239, 30061721		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11583963, 28812426, 9647333		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	11583963, 28812426	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17259344		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	15988412, 16971893, 27777505		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	25640674, 28273093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	28289476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	19138979, 20686609, 28653505		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28153500	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26018988		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34663825	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8892957		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20493668		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11897506, 15753989, 16397244, 19584257, 22927430, 23500535, 24599592, 26985934, 30760632, 9367686		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16239258, 23235274		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28812426		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22715397, 25744720, 26462152, 28849235, 30321617		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10537322, 19010824, 25194819, 28758529		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	25194819		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23056513, 28114355, 28260499		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11118034, 11593396, 15688318, 16206286, 19305425, 21500190, 23468933, 23803082, 28768769, 29663374, 30417466, 30775647, 30928381		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	15650023, 17130136		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22992343, 28759023, 30258285, 31832002		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25175477		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10383740, 11832457, 15492257, 17188489, 19726788, 19755124, 21084381, 21159881, 21782343, 22942256, 23269549, 23497290, 23500535, 24508914, 24599592, 24633486, 25175477, 25970609, 26854063, 26893368, 27601164, 27715394, 28223438, 28618224, 28673732, 29165389, 29268141, 29483837, 29614094, 29696364, 29921886, 30411193, 30510193, 30559168, 30775647, 31496800, 31500846, 31551935, 31630880, 31659944, 31787357		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20979106, 29971639		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14519635, 15073116		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	GENOMICS_ENGLAND_DG	20583178		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	Mandibulofacial Dysostosis With Alopecia	GENOMICS_ENGLAND_DG	20583178, 25772936		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	Mandibulofacial Dysostosis With Alopecia	BEFREE	25772936		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	Mandibulofacial Dysostosis With Alopecia	ORPHANET_DG	25772936		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	Mandibulofacial Dysostosis With Alopecia	UNIPROT_DG	25772936		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibulofacial dysostosis with alopecia	Mandibulofacial Dysostosis With Alopecia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	Mandibulofacial Dysostosis With Alopecia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	Mandibulofacial Dysostosis With Alopecia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	22691887		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24252460		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15322701, 18583061, 19338054, 22273393, 28223438, 30267482		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	7560095	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	8587332		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28229904, 29305581, 31076569		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27046448		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	25364818		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	25246581, 27215467, 28691227, 29655980		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	18288682		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	11376172, 16618267, 20964792, 21453125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	BEFREE	19558538		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	19558538	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28229904		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	30482667		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22591013, 28597546		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28597546	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28052250, 30131588		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	28095452		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10192234, 28412414, 28798316		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	LHGDN	14729387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	29396305	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21487064, 28199751		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	23987636	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	CTD_human_DG	17032313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	11053249, 11289142, 12150333, 12193050, 12620408, 15041798, 15226779, 16741062, 17894856, 20855608, 21102457, 21385899, 21559457, 22942256, 23269549, 23584483, 23651229, 23979133, 24853422, 24882516, 25174588, 25175477, 25194819, 25434383, 25701758, 27248167, 28152577, 29274786, 29704239, 29749524, 30384975, 31168089, 31551935, 7814146, 9284742		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	12824183		★☆☆☆☆ Found in Text Mining only
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	BEFREE	31486901		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	17872384		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	29360807		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29360807		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	30672385		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31025859		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12193114, 16741067		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21299846		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28763059		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23144692, 27669169		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10642320, 10903341, 18037923, 20462274, 24946790, 25970609, 31002796, 31288724		★☆☆☆☆ Found in Text Mining only
Ocular albinism, type I	Ocular albinism	BEFREE	16646960, 31275171		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	29277692		★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	24373848	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28673732, 29277692, 30975883		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21656314		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24727660	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19202075	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10537322, 19010824, 25194819, 28758529		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16648553		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	25194819		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11073813, 12023962, 15347673, 19202075, 22232246, 24530737, 25194819, 30367951, 36717550	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paget Disease	Paget disease	BEFREE	29277692		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23056513, 28114355, 28260499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27248167, 28360038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	LHGDN	17575543		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12919159, 26941397, 30411193		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	29163802		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	27760455		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	26488411	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28640077		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	28640077		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	12368197		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	12368197	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	30993114		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	LHGDN	12629276		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	22333914, 23754170		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	17706018		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	21894000		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27588474		★☆☆☆☆ Found in Text Mining only
Priapism	Priapism	BEFREE	29394072		★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	BEFREE	22691887		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11118034, 11593396, 15688318, 16206286, 19305425, 21500190, 23468933, 23803082, 29663374, 30417466, 30775647, 30928381		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	11593396		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16984730		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34165174	Stimulate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	29387507		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	21498912	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	21773759, 25131455, 30975046, 31118151		★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	BEFREE	11858796, 20028935		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16581180		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17203161		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	27297948		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25216639		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	19955366, 27694816		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	11247813, 8889552		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10090156, 10094932, 15225142, 24795506		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	17872384		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	21784156		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20158934, 21784156, 28763059, 29497362, 30710087, 31704949		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	21618827		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30503722, 31318833		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	20083432, 24010499, 29896159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Obstructive	Sleep Apnea	CTD_human_DG	20083432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	BEFREE	15274044		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30382525	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	18057535		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31611744		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24568968		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28233865		★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22992343, 28759023, 30258285, 31832002		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	23344946		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34663825	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30244111		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	24633486		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28640077, 28855694, 9284832		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	29025761		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	12919159, 17561979, 22510270		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18451066		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	15225142		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	12919159		★☆☆☆☆ Found in Text Mining only
Total Hypotrichosis, Mari type	Hypotrichosis	BEFREE	18461368		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25772936		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24599592		★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30872391		★☆☆☆☆ Found in Text Mining only
Upper Airway Resistance Sleep Apnea Syndrome	Obstructive sleep apnea syndrome	CTD_human_DG	20083432		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25175477, 32570217, 36595851	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	7958393		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	18719078, 27089179, 28223438, 30352874		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16879056, 30586762		★☆☆☆☆ Found in Text Mining only
Vibratory urticaria	Vibratory urticaria	BEFREE	29454835		★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	16030497	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 1	von Willebrand disorder	BEFREE	26630678		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30664180	Associate	★☆☆☆☆ Found in Text Mining only