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.
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 2 5 2009 2010
Addison's disease due to autoimmunity
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 18 0.010 None 1.000 1 1999 1999
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 233 10 0.010 None 1.000 1 2012 2012
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 2 5 2009 2010
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders
group Chemically-Induced Disorders Disease or Syndrome 50 180 0.100 None 1.000 1 1 2019 2019
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 54 180 0.100 None 1.000 1 1 2019 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.100 None 1.000 1 1 2019 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2009 2018
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.010 None 1.000 1 2002 2002
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.110 None 1.000 3 1 2006 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2010 2010
Autoimmune Primary Adrenal Insufficiency
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 41 18 0.010 None 1.000 1 1999 1999
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
disease Digestive System Diseases; Neoplasms Disease or Syndrome 478 60 0.010 None 1.000 1 2015 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.120 None 1.000 3 1 1998 2012
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 2 2018 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2012 2012
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.010 None 1.000 1 2006 2006
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2008 2008
Cervical intraepithelial neoplasia grade 1
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 75 1 0.010 None < 0.001 1 2013 2013
Cervical Squamous Intraepithelial Neoplasia 1
disease Neoplastic Process 13 0.010 None < 0.001 1 2013 2013
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2008 2008
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.100 None 1.000 1 1 2019 2019
Childhood Ataxia with Central Nervous System Hypomyelinization
disease Nervous System Diseases Disease or Syndrome 59 63 0.010 None 1.000 1 2015 2015
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.020 None 1.000 2 2012 2012
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 287 99 0.010 None 1.000 1 2011 2011