EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis
disease Stomatognathic Diseases Disease or Syndrome 25 1 0.100 None 0
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements
phenotype Finding 8 0.100 None 0
Aplasia/Hypoplasia of the external ear
phenotype Finding 4 0.100 None 0
CUI: C4022171
Disease: Periauricular skin pits
Periauricular skin pits
disease Congenital Abnormality 5 1 0.100 None 0
Abnormality of the crus of the helix
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4021376
Disease: Cleft helix
Cleft helix
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
phenotype Stomatognathic Diseases Finding 82 19 0.100 None 0
CUI: C0037384
Disease: Snoring
Snoring
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 23 0.100 None 0
CUI: C0399570
Disease: Mandibular condyle aplasia
Mandibular condyle aplasia
phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue
phenotype Neoplasms; Stomatognathic Diseases Finding 18 1 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
Congenital ear anomaly NOS (disorder)
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.100 None 0
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 72 4 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype Finding 103 4 0.100 None 0
CUI: C0431420
Disease: Vein of Galen aneurysm
Vein of Galen aneurysm
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.100 None 0
CUI: C0025988
Disease: Microglossia
Microglossia
disease Stomatognathic Diseases Congenital Abnormality 19 2 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 0
CUI: C0024636
Disease: Malocclusion
Malocclusion
disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0