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: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 10 0.700 None 1.000 3 10 1996 2018
CUI: C1843738
Disease: LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO 		disease Finding 1 1 0.300 None 1.000 1 1 2004 2004
CUI: C4017089
Disease: LONG QT SYNDROME 1, RECESSIVE
LONG QT SYNDROME 1, RECESSIVE 		disease Finding 1 2 0.100 None 0 2
CUI: C0155708
Disease: Other specified conduction disorders
Other specified conduction disorders 		phenotype Cardiovascular Diseases Pathologic Function 2 0.200 None 1.000 1 2004 2004
CUI: C0857439
Disease: Pituitary hormone deficiency
Pituitary hormone deficiency 		phenotype Finding 2 0.300 moderate 1.000 1 2017 2017
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		disease Disease or Syndrome 2 6 0.300 None 1.000 1 3 2004 2004
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 9 0.720 None 1.000 5 9 1996 2018
CUI: C0476287
Disease: Breath-holding spell
Breath-holding spell 		phenotype Sign or Symptom 3 2 0.010 None 1.000 1 2016 2016
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 9 0.010 None 1.000 1 2013 2013
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 23 0.700 None 1.000 11 23 1996 2018
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 6 0.300 None 1.000 2 2004 2015
CUI: C3698186
Disease: Cardiac channelopathy
Cardiac channelopathy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2015 2015
CUI: C0426440
Disease: Large nostrils
Large nostrils 		phenotype Finding 4 2 0.100 None 0 1
CUI: C0001075
Disease: Achlorhydria
Achlorhydria 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function 5 0.200 None 1.000 1 2006 2006
CUI: C0403654
Disease: Bladder outflow obstruction
Bladder outflow obstruction 		disease Acquired Abnormality 5 0.010 None 1.000 1 2015 2015
CUI: C2732413
Disease: Postexertional fatigue
Postexertional fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 0.100 None 0
CUI: C1851720
Disease: Adrenocortical cytomegaly
Adrenocortical cytomegaly 		phenotype Finding 6 0.100 None 0
CUI: C1851722
Disease: Overgrowth of external genitalia
Overgrowth of external genitalia 		phenotype Finding 6 0.100 None 0
CUI: C1851733
Disease: Pancreatic hyperplasia
Pancreatic hyperplasia 		phenotype Finding 6 0.100 None 0
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 7 157 0.040 None 1.000 4 2002 2019
CUI: C0751534
Disease: Syncopal Episode
Syncopal Episode 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 7 2 0.010 None 1.000 1 1998 1998
CUI: C0017155
Disease: Gastritis, Hypertrophic
Gastritis, Hypertrophic 		disease Digestive System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2000 2000
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		disease Anatomical Abnormality 8 2 0.100 None 0 1
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease Congenital Abnormality 8 2 0.100 None 0 1
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		phenotype Finding 9 0.100 None 0