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: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0871610
Disease: winter depression
winter depression
disease Mental or Behavioral Dysfunction 9 5 0.010 None 1.000 1 1 2012 2012
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.010 None 1.000 1 1990 1990
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2014 2014
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 1997 1997
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.020 None 1.000 2 2018 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2015 2015
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2015 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2002 2002
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.010 None 1.000 1 2016 2016
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 61 0.010 None 1.000 1 1998 1998
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 2 0.010 None 1.000 1 1998 1998
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2014 2014
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.010 None 1.000 1 1997 1997
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.300 None 1.000 1 2016 2016
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension
disease Digestive System Diseases Disease or Syndrome 167 9 0.200 None 1.000 1 2014 2014
CUI: C0302809
Disease: Fulminant hepatitis
Fulminant hepatitis
disease Digestive System Diseases Disease or Syndrome 57 1 0.010 None 1.000 1 2018 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.300 None 1.000 1 2016 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2018 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2018 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2017 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.230 None 1.000 4 1992 2019
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
disease Endocrine System Diseases Disease or Syndrome 279 27 0.220 None 1.000 3 1992 2019
Generalized Thyroid Hormone Resistance
disease Endocrine System Diseases Disease or Syndrome 45 34 0.010 None 1.000 1 2016 2016
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2014 2014