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: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 20 240 1.000 None 0.990 104 227 1996 2019
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 15 1.000 definitive 1.000 61 11 1997 2019
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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.700 None 0.980 354 126 1993 2020
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: 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.520 1.000 2 2014 2016
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.500 None 0.972 106 27 2008 2019
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 22 17 0.500 None 1.000 31 6 1997 2017
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.500 None 1.000 14 6 1997 2019
CUI: C2348199
Disease: Short Qt Syndrome
Short Qt Syndrome 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 10 5 0.390 None 1.000 9 2 2005 2018
CUI: C0021841
Disease: Intestinal Neoplasms
Intestinal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 182 2 0.310 None 1.000 1 2014 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.310 None 1.000 1 2014 2014
CUI: C0018781
Disease: Noise-induced hearing loss
Noise-induced hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Injury or Poisoning 33 1 0.310 None 1.000 1 2006 2006
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 22 1 0.300 None 1.000 2 2003 2012
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: C0857439
Disease: Pituitary hormone deficiency
Pituitary hormone deficiency 		phenotype Finding 2 0.300 moderate 1.000 1 2017 2017
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 123 0.300 None 1.000 1 2014 2014
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: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		disease Neoplasms Neoplastic Process 133 3 0.300 None 1.000 1 2014 2014
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2014 2014
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: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell 		disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2014 2014
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 18 5 0.300 strong 1.000 1 2018 2018
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform 		disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2014 2014