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: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.110 None 1.000 3 1 2011 2015
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis
disease Infections; Skin and Connective Tissue Diseases Neoplastic Process 64 9 0.020 None 1.000 2 2003 2011
Congenital disorder of glycosylation type 1w
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.710 None 1.000 2 1 2013 2019
CUI: C0003175
Disease: Anthrax disease
Anthrax disease
disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.100 None 1.000 1 1 2013 2013
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2020 2020
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 508 38 0.010 None 1.000 1 2003 2003
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1718 245 0.010 None 1.000 1 2016 2016
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 456 130 0.010 None 1.000 1 2019 2019
CUI: C0041228
Disease: African Trypanosomiasis
African Trypanosomiasis
disease Infections Disease or Syndrome 55 2 0.010 None 1.000 1 2017 2017
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
disease Neoplasms Neoplastic Process 293 28 0.010 None 1.000 1 2004 2004
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
disease Neoplasms Neoplastic Process 153 6 0.010 None 1.000 1 2020 2020
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 2016 2016
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.010 None 1.000 1 2019 2019
Congenital bilateral aplasia of vas deferens
disease Male Urogenital Diseases Congenital Abnormality 27 210 0.010 None 1.000 1 2018 2018
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.010 None 1.000 1 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.400 limited 1.000 1 2013 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2020 2020
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 1.000 1 1 2013 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2013 2013
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2002 2002
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 2016 2016
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0