EDN3 (endothelin 3)

Gene

• Entrez ID: 1908
• Gene name: Endothelin 3
• Gene symbol: EDN3
• Synonyms (NCBI Gene): ET-3, ET3, HSCR4, PPET3, WS4B
• Chromosome: 20
• Chromosome location: 20q13.32
• Summary: The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the pre

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11570344	A>-,AA	Likely-pathogenic, pathogenic, benign-likely-benign, likely-benign	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs11570351	G>A	Risk-factor, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs74315384	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs74315385	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs267606778	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs267606779	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs745795470	C>A	Likely-benign, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs773779627	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs977075341	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1568823467	->G	Risk-factor	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568823517	GC>T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT495210	hsa-miR-4668-3p	PAR-CLIP	23708386
MIRT495208	hsa-miR-4282	PAR-CLIP	23708386
MIRT495209	hsa-miR-605-5p	PAR-CLIP	23708386
MIRT495207	hsa-miR-3606-3p	PAR-CLIP	23708386
MIRT495206	hsa-miR-513a-3p	PAR-CLIP	23708386
MIRT495205	hsa-miR-513c-3p	PAR-CLIP	23708386
MIRT495204	hsa-miR-8063	PAR-CLIP	23708386
MIRT495203	hsa-miR-6728-3p	PAR-CLIP	23708386
MIRT495202	hsa-miR-4769-3p	PAR-CLIP	23708386
MIRT495201	hsa-miR-6817-5p	PAR-CLIP	23708386
MIRT495200	hsa-miR-3191-5p	PAR-CLIP	23708386
MIRT495199	hsa-miR-4727-5p	PAR-CLIP	23708386
MIRT495198	hsa-miR-4768-5p	PAR-CLIP	23708386
MIRT495197	hsa-miR-6833-3p	PAR-CLIP	23708386
MIRT495196	hsa-miR-6809-3p	PAR-CLIP	23708386
MIRT495210	hsa-miR-4668-3p	PAR-CLIP	23708386
MIRT495208	hsa-miR-4282	PAR-CLIP	23708386
MIRT495209	hsa-miR-605-5p	PAR-CLIP	23708386
MIRT495207	hsa-miR-3606-3p	PAR-CLIP	23708386
MIRT495206	hsa-miR-513a-3p	PAR-CLIP	23708386
MIRT495205	hsa-miR-513c-3p	PAR-CLIP	23708386
MIRT495204	hsa-miR-8063	PAR-CLIP	23708386
MIRT495203	hsa-miR-6728-3p	PAR-CLIP	23708386
MIRT495202	hsa-miR-4769-3p	PAR-CLIP	23708386
MIRT495201	hsa-miR-6817-5p	PAR-CLIP	23708386
MIRT495200	hsa-miR-3191-5p	PAR-CLIP	23708386
MIRT495199	hsa-miR-4727-5p	PAR-CLIP	23708386
MIRT495198	hsa-miR-4768-5p	PAR-CLIP	23708386
MIRT495197	hsa-miR-6833-3p	PAR-CLIP	23708386
MIRT495196	hsa-miR-6809-3p	PAR-CLIP	23708386
MIRT952733	hsa-miR-2054	CLIP-seq
MIRT952734	hsa-miR-25	CLIP-seq
MIRT952735	hsa-miR-3144-3p	CLIP-seq
MIRT952736	hsa-miR-3157-5p	CLIP-seq
MIRT952737	hsa-miR-32	CLIP-seq
MIRT952738	hsa-miR-363	CLIP-seq
MIRT952739	hsa-miR-367	CLIP-seq
MIRT952740	hsa-miR-3678-3p	CLIP-seq
MIRT952741	hsa-miR-4637	CLIP-seq
MIRT952742	hsa-miR-4691-3p	CLIP-seq
MIRT952743	hsa-miR-4742-3p	CLIP-seq
MIRT952744	hsa-miR-545	CLIP-seq
MIRT952745	hsa-miR-579	CLIP-seq
MIRT952746	hsa-miR-634	CLIP-seq
MIRT952747	hsa-miR-875-5p	CLIP-seq
MIRT952748	hsa-miR-92a	CLIP-seq
MIRT952749	hsa-miR-92b	CLIP-seq
MIRT952736	hsa-miR-3157-5p	CLIP-seq
MIRT952742	hsa-miR-4691-3p	CLIP-seq
MIRT952745	hsa-miR-579	CLIP-seq
MIRT2387219	hsa-miR-433	CLIP-seq
MIRT2428422	hsa-miR-1238	CLIP-seq
MIRT952736	hsa-miR-3157-5p	CLIP-seq
MIRT952742	hsa-miR-4691-3p	CLIP-seq
MIRT952744	hsa-miR-545	CLIP-seq
MIRT952745	hsa-miR-579	CLIP-seq
MIRT952746	hsa-miR-634	CLIP-seq
MIRT2521092	hsa-miR-2053	CLIP-seq
MIRT2521093	hsa-miR-3074-5p	CLIP-seq
MIRT2521094	hsa-miR-4447	CLIP-seq
MIRT2521095	hsa-miR-4472	CLIP-seq
MIRT2521096	hsa-miR-450b-5p	CLIP-seq
MIRT2521097	hsa-miR-518a-5p	CLIP-seq
MIRT2521098	hsa-miR-527	CLIP-seq
MIRT2521099	hsa-miR-548aa	CLIP-seq
MIRT2521093	hsa-miR-3074-5p	CLIP-seq
MIRT2521096	hsa-miR-450b-5p	CLIP-seq
MIRT2521097	hsa-miR-518a-5p	CLIP-seq
MIRT2521098	hsa-miR-527	CLIP-seq
MIRT2521099	hsa-miR-548aa	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002690	Process	Positive regulation of leukocyte chemotaxis	IDA	9696419
GO:0003100	Process	Regulation of systemic arterial blood pressure by endothelin	IBA
GO:0003100	Process	Regulation of systemic arterial blood pressure by endothelin	IDA	2649896
GO:0005102	Function	Signaling receptor binding	TAS	8298278
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IDA	2649896, 10770212
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	15691296
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007165	Process	Signal transduction	TAS	8298278
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	1713452
GO:0007267	Process	Cell-cell signaling	TAS	8298278
GO:0007411	Process	Axon guidance	IEA
GO:0008015	Process	Blood circulation	TAS	8298278
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	22897442
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010460	Process	Positive regulation of heart rate	IDA	2649896
GO:0010468	Process	Regulation of gene expression	IGI	22897442
GO:0010961	Process	Intracellular magnesium ion homeostasis	IEA
GO:0014824	Process	Artery smooth muscle contraction	IDA	8982507
GO:0014826	Process	Vein smooth muscle contraction	IBA
GO:0014826	Process	Vein smooth muscle contraction	IDA	8982507
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0030072	Process	Peptide hormone secretion	IDA	10770212
GO:0030182	Process	Neuron differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030593	Process	Neutrophil chemotaxis	IDA	9696419
GO:0031175	Process	Neuron projection development	IEA
GO:0031708	Function	Endothelin B receptor binding	IBA
GO:0031708	Function	Endothelin B receptor binding	IPI	1713452
GO:0042310	Process	Vasoconstriction	IDA	2649896, 8982507
GO:0042310	Process	Vasoconstriction	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	10770212
GO:0045597	Process	Positive regulation of cell differentiation	IGI	22897442
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	10770212
GO:0045987	Process	Positive regulation of smooth muscle contraction	IBA
GO:0046887	Process	Positive regulation of hormone secretion	IDA	10770212
GO:0048070	Process	Regulation of developmental pigmentation	IEA
GO:0048675	Process	Axon extension	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IEA

Other IDs

• MIM: 131242
• HGNC: 3178
• e!Ensembl: ENSG00000124205

Protein

• UniProt ID: P14138
• Protein name: Endothelin-3 (ET-3) (Preproendothelin-3) (PPET3)
• Protein function: Endothelins are endothelium-derived vasoconstrictor peptides.
• PDB: 6IGK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00322	Endothelin	93 → 121	Endothelin family	Repeat

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

  MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAG
  PGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCFTYKDKECVYYCHLDIIWINT
  PEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVS
  SNSRTAEKTDKEEEGKVEVKDQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP

• Sequence length: 238

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Vascular smooth muscle contraction
Renin secretion

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
Sensorineural hearing loss disorder	Likely pathogenic	rs745795470	RCV001353198	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Waardenburg syndrome type 4B	Pathogenic; Likely pathogenic	rs1568823517, rs74315384, rs74315385, rs267606778, rs267606779, rs977075341	RCV000018123 RCV000018124 RCV000018129 RCV000018130 RCV000018131 RCV000659493	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal rectum morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRADYCARDIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital central hypoventilation	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDN3-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ 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, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 4	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign; risk factor	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLEINS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICUSPID VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
WAARDENBURG SYNDROME TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG-SHAH SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	8961255		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25861020		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	10792313, 19556619		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	GENOMICS_ENGLAND_DG	19764030		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	CTD_human_DG	8630502, 8630503, 8896568, 9359047		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Rectosigmoid Colon	Colonic Aganglionosis	CTD_human_DG	8630502, 8630503, 8896568, 9359047		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28880927		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28880927		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28880927	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10672062, 19527488		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19527488, 24489661	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33537832	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	CTD_human_DG	8696331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	30047329		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31167651		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22865632		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26684626		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26684626	Associate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	ORPHANET_DG	8696331		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	CTD_human_DG	8696331		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	GENOMICS_ENGLAND_DG	9359047		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	CTD_human_DG	8630502, 8630503, 8896568, 9359047		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20028935		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	8630503	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36542159	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32555714	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22013079		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22013079		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	10204849, 10231870, 10466607, 10792313, 12086152, 14669347, 19556619, 20009762, 21320883, 8630502, 8630503, 9027489, 9035203, 9094028, 9359047, 9556633, 9760196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	10204849, 10874640, 14669347, 19925665, 20009762, 20495744, 8630503	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	LHGDN	14669347, 19183406		★★☆☆☆ 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	8630502, 8630503, 8896568, 9359047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	2059916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ 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
Ischemic stroke	Ischemic Stroke	BEFREE	30047329		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	31167651	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31167651		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19527488		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26684626		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22865632		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15838263		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18346402, 18722093		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	8645250	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	22876130	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19527488, 22013079, 26684626		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	15838339		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	15838339		★☆☆☆☆ Found in Text Mining only
Ondine syndrome	Ondine Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11675006		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33537832	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28656315	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	10528251, 31812001, 9035203, 9359047		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	10536986, 22876130, 25932447, 29630160, 32908492, 36329483	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Waardenburg Syndrome	Waardenburg Syndrome	GENOMICS_ENGLAND_DG	19764030, 8630502		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Waardenburg Syndrome	Waardenburg Syndrome	ORPHANET_DG	19764030		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Waardenburg Syndrome Type 2	Waardenburg Syndrome	BEFREE	8630503		★☆☆☆☆ Found in Text Mining only
Waardenburg syndrome type 2	Waardenburg syndrome	Pubtator	8630503	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg syndrome type 2A	Waardenburg syndrome	Pubtator	36329483	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg syndrome type 4	Waardenburg syndrome	Pubtator	10762540, 16623715, 28128317, 8630503	Associate	★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	10942418, 21531202, 8630502, 8630503, 9279758, 9359047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	CTD_human_DG	17516928, 8630502, 8630503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	ORPHANET_DG	19764030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4b	Waardenburg syndrome	CLINGEN_DG	10231870, 11303518, 17516928, 19764030, 22876130, 28263850, 8001160, 8630502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4b	Waardenburg syndrome	UNIPROT_DG	11303518, 12189494, 8630503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4b	Waardenburg syndrome	GENOMICS_ENGLAND_DG	19764030, 8630502, 9359047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4b	Waardenburg syndrome	CLINVAR_DG	20127975, 27018795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome, Type 4b	Waardenburg syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg-Shah syndrome	Waardenburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations