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: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		phenotype Finding 53 4 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0 1
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 4 2 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1865318
Disease: Abnormality of the temporomandibular joint
Abnormality of the temporomandibular joint 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 0.100 None 0
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.500 None 0.500 1 2010 2018
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		disease Anatomical Abnormality 1 2 0.410 None 1.000 1 2 2013 2013
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.410 None 1.000 1 2012 2012
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2013 2013
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.310 None < 0.001 1 2010 2010
CUI: C0751849
Disease: Right Middle Cerebral Artery Infarction
Right Middle Cerebral Artery Infarction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2007 2007
CUI: C1571983
Disease: Involutional paraphrenia
Involutional paraphrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2018 2018
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 104 0.300 None 1.000 1 1998 1998
CUI: C1565321
Disease: Cholera Infantum
Cholera Infantum 		disease Digestive System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2005 2005
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		group Cardiovascular Diseases Disease or Syndrome 108 1 0.300 None 1.000 1 2001 2001
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 145 0.300 None 1.000 1 2007 2007
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.300 None 1.000 1 2013 2013
CUI: C1571984
Disease: Psychosis, Involutional
Psychosis, Involutional 		disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2018 2018
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.300 None 1.000 1 2010 2010
CUI: C0019212
Disease: Hepatorenal Syndrome
Hepatorenal Syndrome 		disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 25 0.300 None 1.000 1 1994 1994
CUI: C0740376
Disease: Middle Cerebral Artery Thrombosis
Middle Cerebral Artery Thrombosis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2007 2007
CUI: C0596298
Disease: Cerebrovascular Occlusion
Cerebrovascular Occlusion 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 0.300 None 1.000 1 2007 2007
CUI: C0559031
Disease: Functional Gastrointestinal Disorders
Functional Gastrointestinal Disorders 		disease Digestive System Diseases Disease or Syndrome 33 0.300 None 1.000 1 2005 2005