ECE1, endothelin converting enzyme 1, 1889

N. diseases: 157; N. variants: 13
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: C0393912
Disease: Segmental Autonomic Dysfunction
Segmental Autonomic Dysfunction 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1999 1999
CUI: C0750944
Disease: Peripheral Autonomic Nervous System Diseases
Peripheral Autonomic Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1999 1999
CUI: C0750945
Disease: Nervous System Diseases, Parasympathetic
Nervous System Diseases, Parasympathetic 		group Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1999 1999
CUI: C0750946
Disease: Nervous System Diseases, Sympathetic
Nervous System Diseases, Sympathetic 		group Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1999 1999
CUI: C0854772
Disease: Stage II Esophageal Squamous Cell Carcinoma
Stage II Esophageal Squamous Cell Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C3151237
Disease: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.600 moderate 1.000 1 1 1999 1999
CUI: C4721649
Disease: Stage II Esophageal Squamous Cell Carcinoma AJCC v7
Stage II Esophageal Squamous Cell Carcinoma AJCC v7 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C2108146
Disease: Contractures of the interphalangeal joint of the thumb
Contractures of the interphalangeal joint of the thumb 		phenotype Finding 1 0.100 None 0
CUI: C1832175
Disease: Cataract, Congenital, Cerulean Type, 2
Cataract, Congenital, Cerulean Type, 2 		disease Eye Diseases Disease or Syndrome 4 5 0.010 None 1.000 1 2019 2019
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail 		phenotype Finding 9 0.100 None 0
CUI: C1840376
Disease: Elevated mean arterial pressure
Elevated mean arterial pressure 		phenotype Cardiovascular Diseases Finding 10 1 0.100 None 0
CUI: C1840374
Disease: Elevated systolic blood pressure
Elevated systolic blood pressure 		phenotype Cardiovascular Diseases Finding 14 1 0.100 None 0
CUI: C1840375
Disease: Elevated diastolic blood pressure
Elevated diastolic blood pressure 		phenotype Cardiovascular Diseases Finding 14 1 0.100 None 0
CUI: C1257840
Disease: Aganglionosis, Rectosigmoid Colon
Aganglionosis, Rectosigmoid Colon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 15 0.300 None 1.000 1 1999 1999
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 18 16 0.300 None 1.000 1 1999 1999
CUI: C0149520
Disease: Acute Cholecystitis
Acute Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 21 0.010 None 1.000 1 2017 2017
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2000 2000
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 36 11 0.300 None 1.000 1 1999 1999
CUI: C2936380
Disease: Neointima
Neointima 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 40 0.200 None 1.000 1 1996 1996
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2018 2018
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C0018129
Disease: Graft Rejection
Graft Rejection 		phenotype Organ or Tissue Function 47 0.200 None 1.000 1 1999 1999
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 48 16 0.200 None 1.000 1 2000 2000
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		disease Disease or Syndrome 48 35 0.010 None < 0.001 1 2014 2014
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		disease Digestive System Diseases Disease or Syndrome 49 3 0.100 None 0