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: C1300682
Disease: Acute and chronic colitis
Acute and chronic colitis
disease Digestive System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
Ullrich congenital muscular dystrophy 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 34 0.010 None 1.000 1 2006 2006
Infiltrating duct carcinoma of female breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 21 10 0.300 None 0
CUI: C2919828
Disease: Chronic ulcerative colitis
Chronic ulcerative colitis
disease Digestive System Diseases Disease or Syndrome 40 0.010 None 1.000 1 2019 2019
CUI: C4049711
Disease: Lepidic Predominant Adenocarcinoma
Lepidic Predominant Adenocarcinoma
disease Neoplasms Neoplastic Process 46 0.020 None 1.000 2 2012 2017
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 55 0.010 None 1.000 1 2006 2006
CUI: C0267375
Disease: Chronic colitis
Chronic colitis
disease Digestive System Diseases Disease or Syndrome 57 1 0.010 None 1.000 1 2019 2019
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.010 None 1.000 1 2013 2013
CUI: C0595936
Disease: Aqueous Humor Disorders
Aqueous Humor Disorders
disease Eye Diseases Disease or Syndrome 85 1 0.010 None 1.000 1 2012 2012
CUI: C0079680
Disease: Lentivirus Infections
Lentivirus Infections
group Infections Disease or Syndrome 88 0.010 None 1.000 1 2015 2015
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma
disease Neoplastic Process 118 1 0.010 None 1.000 1 2018 2018
Congenital atresia of extrahepatic bile duct
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 172 19 0.010 None 1.000 1 2017 2017
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.010 None 1.000 1 2017 2017
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 199 24 0.010 None 1.000 1 2010 2010
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2013 2013
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2013 2013
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
disease Endocrine System Diseases Disease or Syndrome 279 27 0.010 None 1.000 1 2019 2019
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
disease Neoplasms Neoplastic Process 293 28 0.010 None 1.000 1 2004 2004
Ki-1+ Anaplastic Large Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 10 0.010 None 1.000 1 2006 2006
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 2012 2012
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2006 2006
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2012 2012
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 421 15 0.010 None 1.000 1 2018 2018
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2012 2012
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.010 None 1.000 1 2017 2017