EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b 		0.900 CausalMutation disease CLINVAR
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b 		0.900 Biomarker disease CTD_human
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.700 Biomarker disease HPO
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3150975
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0017075
Disease: Ganglioneuroma
Ganglioneuroma 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020440
Disease: Hypercapnia
Hypercapnia 		0.100 Biomarker phenotype HPO
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		0.100 Biomarker phenotype HPO
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		0.100 Biomarker disease HPO
CUI: C0025160
Disease: Megacolon
Megacolon 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		0.100 Biomarker group HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.100 Biomarker disease HPO
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO