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: C0399570
Disease: Mandibular condyle aplasia
Mandibular condyle aplasia 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 4 2 0.100 None 0
CUI: C4022171
Disease: Periauricular skin pits
Periauricular skin pits 		disease Congenital Abnormality 5 1 0.100 None 0
CUI: C4021380
Disease: Abnormality of the crus of the helix
Abnormality of the crus of the helix 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4024626
Disease: Aplasia/Hypoplasia of the external ear
Aplasia/Hypoplasia of the external ear 		phenotype Finding 4 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C4021376
Disease: Cleft helix
Cleft helix 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.010 None 1.000 1 1992 1992
CUI: C1153706
Disease: Endometrial adenocarcinoma
Endometrial adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 212 5 0.010 None 1.000 1 1992 1992
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 1992 1992
CUI: C0428977
Disease: Bradycardia
Bradycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 63 2 0.300 None 1.000 2 1992 1993
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 1993 1993
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.010 None 1.000 1 1993 1993
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: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.200 None 1.000 1 1994 1994
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 19 0.010 None 1.000 1 1995 1995
CUI: C0270192
Disease: Perinatal Subarachnoid Hemorrhage
Perinatal Subarachnoid Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 8 0.300 None 1.000 1 1995 1995
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 61 21 0.010 None 1.000 1 1995 1995
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.010 None 1.000 1 1995 1995
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.010 None 1.000 1 1995 1995
CUI: C0795688
Disease: Subarachnoid Hemorrhage, Intracranial
Subarachnoid Hemorrhage, Intracranial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 8 0.300 None 1.000 1 1995 1995
CUI: C0012754
Disease: Distemper
Distemper 		disease Infections; Animal Diseases Disease or Syndrome 12 0.010 None 1.000 1 1995 1995
CUI: C0038522
Disease: Subacute Sclerosing Panencephalitis
Subacute Sclerosing Panencephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 47 6 0.010 None 1.000 1 1995 1995
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 1995 1995
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		disease Digestive System Diseases Disease or Syndrome 38 19 0.010 None 1.000 1 1995 1995