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: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.630 None 1.000 6 2 2000 2014
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: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.410 None 1.000 2 2 1998 1999
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.310 None 1.000 2 2006 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.310 None 1.000 1 2007 2007
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.300 None 1.000 2 1998 1999
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders
group Nervous System Diseases Disease or Syndrome 73 7 0.300 None 1.000 1 1999 1999
Peripheral Autonomic Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 1 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: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 1998 1998
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: 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
Nervous System Diseases, Parasympathetic
group Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1999 1999
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
Nervous System Diseases, Sympathetic
group Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1999 1999
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.210 None 1.000 3 1998 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.210 None 1.000 3 1998 2009
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 226 0.200 None 1.000 2 2002 2008
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 2 1999 2000
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.200 None 1.000 1 2003 2003
CUI: C0018129
Disease: Graft Rejection
Graft Rejection
phenotype Organ or Tissue Function 47 0.200 None 1.000 1 1999 1999
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.200 None 1.000 1 2003 2003
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2008 2008
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.200 None 1.000 1 2000 2000
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