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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2018 2018
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 11 0.010 None 1.000 1 2017 2017
CUI: C0265673
Disease: Congenital kyphosis
Congenital kyphosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 54 0.010 None 1.000 1 2018 2018
CUI: C0334054
Disease: cystic disease
cystic disease
disease Disease or Syndrome 19 0.010 None 1.000 1 1998 1998
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2019 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.090 None 0.889 9 2017 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.100 None 0.900 10 2017 2020
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.020 None 1.000 2 2017 2017
CUI: C0311213
Disease: Dermatitis verrucosa
Dermatitis verrucosa
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
CUI: C0013146
Disease: Drug abuse
Drug abuse
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.010 None 1.000 1 2019 2019
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
phenotype Finding 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.010 None 1.000 1 2009 2009
CUI: C0014836
Disease: Escherichia coli Infections
Escherichia coli Infections
group Infections Disease or Syndrome 38 0.010 None 1.000 1 2018 2018
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement
group Laboratory Procedure 50 116 0.100 None 1.000 1 1 2013 2013
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.030 None 1.000 3 2017 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2017 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2017 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2017 2017
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2017 2017
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None < 0.001 1 2018 2018
CUI: C0019159
Disease: Hepatitis A
Hepatitis A
disease Digestive System Diseases; Infections Disease or Syndrome 451 27 0.010 None 1.000 1 1994 1994
CUI: C0011226
Disease: Hepatitis D Infection
Hepatitis D Infection
disease Digestive System Diseases; Infections Disease or Syndrome 72 4 0.010 None 1.000 1 1994 1994
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26 0.010 None 1.000 1 2019 2019