EDNRB (endothelin receptor type B)

Gene

• Entrez ID: 1910
• Gene name: Endothelin receptor type B
• Gene symbol: EDNRB
• Synonyms (NCBI Gene): ABCDS, ET-B, ET-BR, ETB, ETB1, ETBR, ETRB, HSCR, HSCR2, WS4A
• Chromosome: 13
• Chromosome location: 13q22.3
• Summary: The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801710	C>T	Risk-factor, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs267606780	T>A	Risk-factor	Upstream transcript variant, intron variant, genic upstream transcript variant, stop gained, coding sequence variant
rs768126403	G>A,T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1064797178	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1555292048	TTTAGGCACCTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT952775	hsa-miR-124	CLIP-seq
MIRT952776	hsa-miR-3714	CLIP-seq
MIRT952777	hsa-miR-3910	CLIP-seq
MIRT952778	hsa-miR-4282	CLIP-seq
MIRT952779	hsa-miR-4503	CLIP-seq
MIRT952780	hsa-miR-4733-5p	CLIP-seq
MIRT952781	hsa-miR-506	CLIP-seq
MIRT952782	hsa-miR-513a-3p	CLIP-seq
MIRT952783	hsa-miR-548ae	CLIP-seq
MIRT952784	hsa-miR-548aj	CLIP-seq
MIRT952785	hsa-miR-548am	CLIP-seq
MIRT952786	hsa-miR-548x	CLIP-seq
MIRT952787	hsa-miR-590-3p	CLIP-seq
MIRT952788	hsa-miR-1271	CLIP-seq
MIRT952789	hsa-miR-136	CLIP-seq
MIRT952790	hsa-miR-182	CLIP-seq
MIRT952791	hsa-miR-19a	CLIP-seq
MIRT952792	hsa-miR-19b	CLIP-seq
MIRT952793	hsa-miR-2052	CLIP-seq
MIRT952794	hsa-miR-3140-3p	CLIP-seq
MIRT952795	hsa-miR-3164	CLIP-seq
MIRT952796	hsa-miR-340	CLIP-seq
MIRT952797	hsa-miR-376c	CLIP-seq
MIRT952798	hsa-miR-377	CLIP-seq
MIRT952799	hsa-miR-4470	CLIP-seq
MIRT952800	hsa-miR-4642	CLIP-seq
MIRT952801	hsa-miR-4652-3p	CLIP-seq
MIRT952802	hsa-miR-4720-5p	CLIP-seq
MIRT952803	hsa-miR-4795-3p	CLIP-seq
MIRT952804	hsa-miR-4799-3p	CLIP-seq
MIRT952805	hsa-miR-579	CLIP-seq
MIRT952806	hsa-miR-582-5p	CLIP-seq
MIRT952807	hsa-miR-648	CLIP-seq
MIRT952808	hsa-miR-96	CLIP-seq
MIRT1982136	hsa-miR-146a	CLIP-seq
MIRT1982137	hsa-miR-146b-5p	CLIP-seq
MIRT1982138	hsa-miR-186	CLIP-seq
MIRT1982139	hsa-miR-25	CLIP-seq
MIRT1982140	hsa-miR-3133	CLIP-seq
MIRT1982141	hsa-miR-32	CLIP-seq
MIRT1982142	hsa-miR-363	CLIP-seq
MIRT1982143	hsa-miR-367	CLIP-seq
MIRT1982144	hsa-miR-3921	CLIP-seq
MIRT1982145	hsa-miR-4251	CLIP-seq
MIRT1982146	hsa-miR-4325	CLIP-seq
MIRT1982147	hsa-miR-4329	CLIP-seq
MIRT1982148	hsa-miR-4653-5p	CLIP-seq
MIRT1982149	hsa-miR-4714-5p	CLIP-seq
MIRT1982150	hsa-miR-589	CLIP-seq
MIRT1982151	hsa-miR-92a	CLIP-seq
MIRT1982152	hsa-miR-92b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Activation	19783678
SOX10	Unknown	16623715
SP1	Activation	16921166
SP1	Unknown	16623715

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19767294
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002001	Process	Renin secretion into blood stream	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004962	Function	Endothelin receptor activity	IBA
GO:0004962	Function	Endothelin receptor activity	IDA	1713452
GO:0004962	Function	Endothelin receptor activity	IEA
GO:0004962	Function	Endothelin receptor activity	IMP	19767294, 28236341
GO:0005515	Function	Protein binding	IPI	23597562
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	28236341
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8810293
GO:0006885	Process	Regulation of pH	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	8810293
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007194	Process	Negative regulation of adenylate cyclase activity	TAS	9556633
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	9556633
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007399	Process	Nervous system development	TAS	8001158
GO:0007422	Process	Peripheral nervous system development	IEA
GO:0007497	Process	Posterior midgut development	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014043	Process	Negative regulation of neuron maturation	IEA
GO:0014043	Process	Negative regulation of neuron maturation	ISS
GO:0014826	Process	Vein smooth muscle contraction	IMP	8982507
GO:0014829	Process	Vascular associated smooth muscle contraction	IEA
GO:0016020	Component	Membrane	IEA
GO:0017046	Function	Peptide hormone binding	IPI	1713452
GO:0019722	Process	Calcium-mediated signaling	IMP	28236341
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0030202	Process	Heparin proteoglycan metabolic process	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0031620	Process	Regulation of fever generation	IEA
GO:0031702	Function	Type 1 angiotensin receptor binding	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032341	Process	Aldosterone metabolic process	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0035645	Process	Enteric smooth muscle cell differentiation	IEA
GO:0035645	Process	Enteric smooth muscle cell differentiation	ISS
GO:0035810	Process	Positive regulation of urine volume	IEA
GO:0035812	Process	Renal sodium excretion	IEA
GO:0042045	Process	Epithelial fluid transport	IEA
GO:0042310	Process	Vasoconstriction	IBA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042310	Process	Vasoconstriction	IMP	8982507
GO:0042311	Process	Vasodilation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0048066	Process	Developmental pigmentation	IBA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0048246	Process	Macrophage chemotaxis	IMP	12207323
GO:0048265	Process	Response to pain	IEA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048484	Process	Enteric nervous system development	ISS
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0051248	Process	Negative regulation of protein metabolic process	IMP	19767294
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060406	Process	Positive regulation of penile erection	IEA
GO:0061028	Process	Establishment of endothelial barrier	IEA
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0072112	Process	Podocyte differentiation	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IBA
GO:0086100	Process	Endothelin receptor signaling pathway	IDA	1713452
GO:0086100	Process	Endothelin receptor signaling pathway	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IMP	19767294, 28236341
GO:0097018	Process	Renal albumin absorption	IEA
GO:0097402	Process	Neuroblast migration	IEA
GO:0160093	Process	Chordate pharynx development	IEA
GO:1904383	Process	Response to sodium phosphate	IEA
GO:1990839	Process	Response to endothelin	IEA

Other IDs

• MIM: 131244
• HGNC: 3180
• e!Ensembl: ENSG00000136160

Protein

• UniProt ID: P24530
• Protein name: Endothelin receptor type B (ET-B) (ET-BR) (Endothelin receptor non-selective type)
• Protein function: Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.
• PDB: 5GLH, 5GLI, 5X93, 5XPR, 6IGK, 6IGL, 6LRY, 8HBD, 8HCX, 8IY5, 8IY6, 8XGR, 8XVE, 8XVH, 8XWP, 8XWQ, 8ZRT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	118 → 387	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. {ECO:0000269|PubMed:9284755}.
• Sequence:

  MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNA
  SLARSLAPAEVPKGDRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNS
  TLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLAEDWPFGAEMCKLVPFI
  QKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
  DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEM
  LRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCEL
  LSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCCWCQSFEEKQSLEEKQSC
  LKFKANDHGYDNFRSSNKYSSS

• Sequence length: 442

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Neuroactive ligand-receptor interaction
Melanogenesis
Relaxin signaling pathway
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
ABCD syndrome	Pathogenic	rs104894391	RCV000018120	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EDNRB-related disorder	Likely pathogenic; Pathogenic	rs2501526238, rs2137610838, rs1879091616	RCV003408492 RCV003984378 RCV003931777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic	rs1064797177	RCV001375059	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hirschsprung disease, susceptibility to, 2	Likely pathogenic; Pathogenic	rs1879111145	RCV004785538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs1879111145	RCV005930028	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic	rs876657688	RCV000221133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 4A	Likely pathogenic; Pathogenic	rs2137610942, rs2137610842, rs2137610838, rs104894388, rs104894390, rs104894391, rs2501608750, rs762023761, rs2501530183, rs768126403, rs1555290659, rs1458799604	RCV001375041 RCV001808120 RCV001809337 RCV000018114 RCV000018119 RCV000659496 RCV003989082 RCV004526475 RCV004556963 RCV000721946 RCV000659495 RCV000659494	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aganglionic megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aganglionosis, total intestinal	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ 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
Hearing loss, autosomal recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease, Recessive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLEINS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL INTESTINAL AGANGLIONOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
WAARDENBURG SYNDROME TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME TYPE 2	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 2A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG-SHAH SYNDROME	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABCD syndrome	ABCD Syndrome	BEFREE	11891690		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABCD syndrome	ABCD Syndrome	GENOMICS_ENGLAND_DG	25529582, 7778600, 9760196		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABCD syndrome	ABCD Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABCD syndrome	ABCD Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	18551992		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23111975		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	1371673, 7721442		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	12368197		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	10528251, 19700623, 19853744, 25638620, 26061883		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	GENOMICS_ENGLAND_DG	25852447		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	CTD_human_DG	8896568		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Aganglionosis, Rectosigmoid Colon	Colonic Aganglionosis	CTD_human_DG	8896568		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40065353	Associate	★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	30386899		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17470272, 9988131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	17470272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	16007684		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17525706		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	40076930	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	11469418		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	12368197		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	18242387, 7536888		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15569975, 18945538, 31572460		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	18551992		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	10700441, 22997346, 23343134	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	8587332		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15226779, 15753989, 17295044		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16244791		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12207323, 15226779	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	32236623, 32394530	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10672062, 12439722		★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24373848	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	15841074	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15569975, 18945538, 31572460		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16328051, 19148482		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25047176	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34888137	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12099722		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10217651		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	11601839		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10217651, 10700441		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29115394		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30423812	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	25479176		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19661472		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	12046734, 29947530		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19291182		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	11068876, 18362896		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	22429968		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	10217651		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	9988131		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11583963, 9647333		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29947531		★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	25118007		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	23548203	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24326135, 28140749		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11034585, 23637120, 24326135, 28140749	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	28433712		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	15546126, 29115963, 29216632		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	29115963		★☆☆☆☆ Found in Text Mining only
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	CTD_human_DG	8896568		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10217651, 11082385, 14718401, 14729387, 28095452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	28095452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16581180, 22213152, 22429968, 26850779		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	16160501		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25891848, 28323857		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20028935		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	21894000		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	21505449, 33095980, 8630503	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10090156		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29115394, 29947530		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	22580289	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29115394, 29513879, 29947530		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28817788	Associate	★☆☆☆☆ 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	19581418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	28817788	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10458491, 12628594, 30218169		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	10458491, 29789608	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11565556, 12628594		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	33837257	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	11407477		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	28459279	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	7819049		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32170852	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36542159, 7819049	Inhibit	★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	26061883		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	17290206		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22075705, 24357795	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	28350619		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	12193114		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	20562228		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	21406517	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	11078428, 7958393		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28802097		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	19289383		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	28606962	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	15988412, 18516102, 24265756, 28938016		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	15988412	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	24603425, 35790984	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11078429, 11092528		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11092528	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29409474	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11078429, 11092528		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19040731		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	19040731		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19040731, 28841806, 29409474, 31734650	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	16928614	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24671639		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24671639	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34753855	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	35580552	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11082385, 14718401, 28095452		★★☆☆☆ 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, Right-Sided	Heart Failure	CTD_human_DG	28095452		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	30423812	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	29484400		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	21507037		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	10204849, 10458491, 10874640, 14669347, 16618617, 16623715, 20009762, 20495744, 26395553, 29484400, 33178831, 8630503	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	BEFREE	10466607, 10512195, 10664228, 11302967, 11484199, 11891690, 12239580, 12355085, 12628594, 14669347, 15834508, 16237557, 16618617, 17011274, 18162831, 18280283, 19700623, 20009762, 20361209, 23001136, 23512482, 23579558, 23671607, 24289864, 24726125, 25638620, 26395553, 27682968, 28236341, 28502583, 28601901, 29224790, 29484400, 30218169, 31313802, 7815416, 8630502, 8630503, 8758905, 8852658, 8852659, 9516825, 9721987, 9739043, 9760196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	LHGDN	12355085, 12628594, 14669347, 18162831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease	Hirschsprung Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CTD_human_DG	8896568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	Pubtator	8083364	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18758497	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	18411415	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11811376, 17204265, 18758497, 22372527, 28350619, 29947538		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	12117726, 18758497		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31734650, 32028672	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	11877350, 12243796, 22688668, 31743815		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	12243796, 20562228		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	10874640	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	7815416		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	24633486, 25479176, 31150867		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	11238033		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	LHGDN	12875994		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	22372527		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	28095452		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18551992		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18551992		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23637120		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11583963, 16391877, 30768923		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11583963, 30839511, 9647333		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	11583963	Associate	★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	16971893		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	9284832		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16328051		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	19148482		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22075705	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24357795	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	29789608	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24671639		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15226779, 15753989		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16244791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	7819049		★☆☆☆☆ 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	16328051, 19148482		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	20798208, 23637120		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21507037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12499435, 15026333, 15289848, 18242387, 20067451, 8988036		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21264540		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	22075705		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11920632, 15569975, 18945538, 31572460		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10383740, 20206445, 20798208, 21782343, 22013079, 23637120, 24995714, 30641296, 30768923		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16244791		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15073116		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16244791		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16244791		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10383740, 11407477, 12230494, 18758494, 19040731, 20574527, 21507037		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	10383740	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	12189238, 12230494, 20550706, 31464372, 8645250, 9575219	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	12439722, 15838263, 19040731		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	BEFREE	7560095, 8587332		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	7560095	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	21505449		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	19661472		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19558538		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	20798208, 23637120	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28597546		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28597546	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24726125		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18551992		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	28095452		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10192234		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	14729387, 25891848, 28323857		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	LHGDN	14729387		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11920632, 18187958		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10337994, 12230494, 15036650, 15129426, 15226779, 15569975, 16328051, 16391877, 17615082, 18187958, 18564167, 18758494, 18945538, 19291182, 20574527, 20798208, 21264540, 22183643, 22553222, 24326135, 28140749, 8587332		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	CTD_human_DG	7756592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	16928614	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12193114, 8758905, 9516825		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37948459	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19148482		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24819376	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25799405		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25799405	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	24265756		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	LHGDN	15950764		★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	11415518		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37008941	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21656314		★☆☆☆☆ Found in Text Mining only
OTOFACIOCERVICAL SYNDROME 1	Otofaciocervical Syndrome	BEFREE	11415518		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21507037		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12919159		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	1375462		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	11469418		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	12368197		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	12368197	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	12629276		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	17202412		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	16030497		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	LHGDN	18310504		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12499435, 15289848, 18242387, 20067451, 8988036		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	12499435	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12499435		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12499435, 18076941, 21694441, 33197890	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	22688668	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21828025	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16581180, 22429968, 26850779		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17203161		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29947534		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	11675408		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10090156		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	29947538		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	23818101	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	16947775, 9284832		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	9284832	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31318833		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	24287883		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	24010499		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	12439722	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17611649		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20206445, 21782343		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18564167, 22075705		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20162572, 20473870, 23637120, 24671639, 24995714, 33594807	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20162572, 24671639, 24995714		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21264540		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37226719	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	19661472	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29084284		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	CTD_human_DG	8587695		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16947775, 9284832		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	22075705	Associate	★☆☆☆☆ Found in Text Mining only
Total intestinal aganglionosis	Total Intestinal Aganglionosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	21225304		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38305604	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17404085	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	28393221	Associate	★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type II	Usher Syndrome	BEFREE	29106856		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	24508839	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16623715, 32368784	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	11078428, 7958393		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	12439722		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	12439722	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	21601190	Associate	★☆☆☆☆ Found in Text Mining only
Vasospasm Intracranial	Intracranial vasospasm	Pubtator	22997346	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	10528251, 16921166, 28236341		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Waardenburg Syndrome	Waardenburg Syndrome	GENOMICS_ENGLAND_DG	10528251		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	10536986, 16623715, 22876130, 25932447, 29115496, 29630160, 30936914, 32908492, 35790984, 36329483, 36331148	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Waardenburg Syndrome	Waardenburg Syndrome	ORPHANET_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	28502583, 31544051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome Type 2	Waardenburg Syndrome	BEFREE	28236341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome Type 2	Waardenburg Syndrome	ORPHANET_DG	28236341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 2	Waardenburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 4	Waardenburg syndrome	Pubtator	10762540, 16623715, 28128317, 35790984	Associate	★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	GENOMICS_ENGLAND_DG	10528251, 25852447, 9760196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	CLINGEN_DG	11773966, 16237557, 21373256, 21715336, 25852447, 28236341, 28502583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	11891690, 16237557, 21531202, 21547364, 21715336, 24311220, 24440785, 28128317, 29106856, 8630502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	UNIPROT_DG	12189494, 8634719		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg-Shah syndrome	Waardenburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations