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.
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2018 2018
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.010 None 1.000 1 2002 2002
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2007 2007
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.010 None 1.000 1 2015 2015
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None 1.000 1 2018 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2015 2015
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2018 2018
CUI: C0333873
Disease: Squamous intraepithelial lesion
Squamous intraepithelial lesion
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 73 8 0.010 None 1.000 1 2009 2009
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 2007 2007
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2018 2018
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 2011 2011
Steroid-sensitive nephrotic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 36 11 0.010 None 1.000 1 2004 2004
Steroid-resistant nephrotic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.010 None 1.000 1 2004 2004
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 1992 1992
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2002 2002
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2018 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 724 22 0.010 None 1.000 1 1998 1998
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.010 None 1.000 1 1998 1998
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 77 3 0.010 None 1.000 1 2007 2007
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2014 2014
Klinefelter's syndrome - male with more than two X chromosomes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2011 2011
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2018 2018
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 67 5 0.010 None 1.000 1 2018 2018
CUI: C0279084
Disease: Kaposi's sarcoma classical type
Kaposi's sarcoma classical type
disease Neoplasms; Infections Neoplastic Process 26 3 0.010 None 1.000 1 2019 2019
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2018 2018