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: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.080 None 1.000 8 2006 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.050 None 1.000 5 2014 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 1999 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 1999 2014
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: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.040 None 1.000 4 2008 2018
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 31 121 0.040 None 1.000 4 2009 2019
Ventricular tachycardia, polymorphic
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 11 0.030 None 1.000 3 2003 2018
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.030 None 1.000 3 1998 2018
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.030 None 1.000 3 2016 2020
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.030 None 1.000 3 2000 2013
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.030 None 1.000 3 1997 2013
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.130 None 0.667 3 2009 2018
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 23 38 0.020 None 1.000 2 2006 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.020 None 1.000 2 2007 2018
Secondary malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.020 None 1.000 2 2014 2016
CUI: C0748607
Disease: Recurrent seizure
Recurrent seizure
disease Nervous System Diseases Disease or Syndrome 44 1 0.020 None 1.000 2 2009 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.120 None 1.000 2 2014 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.020 None 1.000 2 2008 2019
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.120 None 1.000 2 1999 2015
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.020 None 1.000 2 2015 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.020 None 1.000 2 2011 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 104 12 0.020 None 1.000 2 2010 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.120 None 1.000 2 2015 2015
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