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: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 28 232 1.000 1.000 113 215 1993 2018
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 18 1.000 0.967 54 15 1997 2017
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder)
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 4 0.620 1.000 7 4 2004 2016
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
phenotype Finding 1 192 0.600 42 192 1996 2015
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 5 0.600 8 5 2003 2016
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 72 236 0.500 0.967 284 91 1992 2018
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.500 1.000 80 20 2009 2017
LONG QT SYNDROME 1/2, DIGENIC (disorder)
disease Disease or Syndrome 2 418 0.500 41 192 1996 2015
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 65 40 0.500 0.917 13 1 1997 2015
CUI: C0021841
Disease: Intestinal Neoplasms
Intestinal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 157 1 0.310 1.000 1 2014 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 1711 67 0.310 1.000 1 2014 2014
CUI: C0018781
Disease: Noise-induced hearing loss
Noise-induced hearing loss
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Injury or Poisoning 23 1 0.310 1 2006 2006
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 327 287 0.310 1.000 1 2014 2014
Cardiomyopathy, Hypertrophic, Familial
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 72 436 0.300 1 2014 2014
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell
disease Neoplasms Neoplastic Process 116 0.300 1 2014 2014
CUI: C0346627
Disease: Intestinal Cancer
Intestinal Cancer
group Digestive System Diseases; Neoplasms Neoplastic Process 57 0.300 1 2014 2014
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular
disease Neoplasms Neoplastic Process 124 1 0.300 1 2014 2014
CUI: C1148522
Disease: Acoustic Trauma
Acoustic Trauma
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Injury or Poisoning 22 0.300 1 2006 2006
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform
disease Neoplasms Neoplastic Process 114 0.300 1 2014 2014
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell
disease Neoplasms Neoplastic Process 114 0.300 1 2014 2014
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic
disease Neoplasms Neoplastic Process 121 0.300 1 2014 2014
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 21 1 0.300 0
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 2 0.300 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.220 1.000 3 1 2006 2012
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
disease Disease or Syndrome 30 223 0.200 0.943 157 88 1996 2017