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: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology
disease Anatomical Abnormality 34 0.100 None 0
Abnormality of immune system physiology
phenotype Pathologic Function 42 1 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 10 0.010 None 1.000 1 2013 2013
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2006 2006
CUI: C3554617
Disease: Adducted thumb
Adducted thumb
phenotype Musculoskeletal Diseases Finding 74 5 0.100 None 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.100 None 0.917 12 2008 2017
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.020 None 1.000 2 1 2008 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.400 None 1.000 12 1 2009 2019
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.010 None 1.000 1 2006 2006
CUI: C0345964
Disease: Adenoma of lung
Adenoma of lung
disease Neoplasms Neoplastic Process 30 3 0.010 None 1.000 1 2017 2017
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.020 None 1.000 2 2011 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2006 2006
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma
disease Neoplasms Neoplastic Process 90 8 0.010 None 1.000 1 2006 2006
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma
disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.040 None 1.000 4 1 2005 2014
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma
disease Neoplasms Neoplastic Process 93 3 0.010 None 1.000 1 1994 1994
CUI: C4329280
Disease: Advanced Head and Neck Carcinoma
Advanced Head and Neck Carcinoma
disease Neoplastic Process 25 0.020 None 1.000 2 2009 2019
Advanced Head and Neck Squamous Cell Carcinoma
disease Neoplastic Process 17 0.020 None 1.000 2 2007 2015
CUI: C4725076
Disease: Advanced Urothelial Carcinoma
Advanced Urothelial Carcinoma
disease Neoplastic Process 18 0.030 None 1.000 3 2010 2017
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
disease Eye Diseases Acquired Abnormality 92 15 0.010 None < 0.001 1 2017 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.030 None 1.000 3 2012 2018
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.200 None 1.000 1 2012 2012
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.310 None 1.000 1 2012 2012