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: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
disease Nervous System Diseases Disease or Syndrome 73 23 0.100 None 0.952 21 2013 2020
Epilepsy, Partial, with Variable Foci
disease Nervous System Diseases Disease or Syndrome 8 24 0.770 definitive 1.000 19 24 2013 2019
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
disease Nervous System Diseases Disease or Syndrome 1 67 0.600 strong 1.000 19 67 1999 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 0.929 14 2 2014 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.500 None 1.000 11 2 2011 2019
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.070 None 1.000 7 2015 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.060 None 1.000 6 2013 2018
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.050 None 1.000 5 2 2011 2019
CUI: C2938983
Disease: Focal cortical dysplasia
Focal cortical dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 44 0.050 None 1.000 5 2015 2020
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 39 4 0.130 None 1.000 3 2015 2019
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.120 None 1.000 3 2 2011 2016
Malformations of Cortical Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 5 0.030 None 1.000 3 2014 2019
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
disease Nervous System Diseases Disease or Syndrome 17 8 0.310 None 1.000 3 2013 2014
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.020 None 1.000 2 2014 2015
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.020 None 1.000 2 2 2014 2016
Sudden unexplained death in epilepsy
disease Disease or Syndrome 12 0.020 None 1.000 2 2018 2019
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 100 54 0.020 None 1.000 2 2015 2018
Autosomal Dominant Lateral Temporal Lobe Epilepsy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 8 4 0.300 None 1.000 2 2013 2013
CUI: C1842564
Disease: Temporal epilepsy, familial
Temporal epilepsy, familial
disease Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2014 2015
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.100 None 1.000 1 1 2017 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 1.000 1 1 2017 2017
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: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 354 33 0.010 None 1.000 1 2015 2015
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
disease Neoplasms Neoplastic Process 413 14 0.010 None 1.000 1 2015 2015
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 145 156 0.010 None 1.000 1 2018 2018