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: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2018 2018
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2012 2012
CUI: C0002902
Disease: Anencephaly
Anencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 59 10 0.010 None 1.000 1 2018 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2 2011 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 2017 2017
CUI: C3668948
Disease: Circling behavior
Circling behavior
phenotype Mental or Behavioral Dysfunction 14 0.010 None 1.000 1 2017 2017
CUI: C0231706
Disease: Circling gait
Circling gait
phenotype Sign or Symptom 9 1 0.010 None 1.000 1 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2012 2016
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.020 None 1.000 2 2012 2012
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 1 1 2018 2018
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 182 3 0.010 None 1.000 1 2007 2007
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.100 None 1.000 1 3 2019 2019
CUI: C0018810
Disease: heart rate
heart rate
phenotype Clinical Attribute 36 103 0.100 None 1.000 1 3 2019 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.030 None 1.000 3 2 2009 2015
Large-artery atherosclerosis (embolus/thrombosis)
disease Disease or Syndrome 48 35 0.010 None 1.000 1 2 2015 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2012 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.100 None 1.000 1 1 2014 2014
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.010 None 1.000 1 2012 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2018 2018
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
disease Hemic and Lymphatic Diseases Disease or Syndrome 52 18 0.400 strong 1.000 1 5 2019 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.030 None 1.000 3 2012 2018
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
disease Finding 11 30 0.400 None 1.000 1 6 2012 2012
Noninfiltrating Intraductal Carcinoma
disease Neoplasms Neoplastic Process 486 13 0.010 None 1.000 1 2016 2016
CUI: C0431128
Disease: Papillary craniopharyngioma
Papillary craniopharyngioma
disease Neoplasms Neoplastic Process 65 2 0.020 None 1.000 2 2017 2018
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 180 5 0.020 None 1.000 2 2017 2018