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: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 0.300 None 1.000 1 2013 2013
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 146 349 0.300 None 1.000 1 2013 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.220 None 1.000 2 2016 2018
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 160 6 0.200 None 1.000 1 2005 2005
CUI: C0344529
Disease: Cornea plana
Cornea plana
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 22 2 0.040 None 1.000 4 1995 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2019 2019
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None 1.000 1 2004 2004
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2019 2019
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.010 None 1.000 1 2015 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2019 2019
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.010 None 1.000 1 2005 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None 1.000 1 2016 2016
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2019 2019