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.
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C0030326
Disease: Panniculitis
Panniculitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state
phenotype Pathologic Function 70 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
Decreased proportion of CD4-positive T cells
phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 19 0.100 None 0
CUI: C0009766
Disease: Allergic Conjunctivitis
Allergic Conjunctivitis
disease Eye Diseases; Immune System Diseases Disease or Syndrome 38 2 0.200 None 1.000 1 2003 2003
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.010 None 1.000 1 2008 2008
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2011 2011
Secondary malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 1996 1996
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2018 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 1992 1992
CUI: C0853602
Disease: Immunodeficiency congenital
Immunodeficiency congenital
disease Disease or Syndrome; Congenital Abnormality 8 0.010 None 1.000 1 2001 2001
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2019 2019
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 362 24 0.010 None 1.000 1 2019 2019
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 367 5 0.010 None 1.000 1 2008 2008
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.010 None 1.000 1 1994 1994
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 1998 1998
CUI: C0086942
Disease: Rous Sarcoma
Rous Sarcoma
disease Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease 60 0.010 None 1.000 1 1993 1993
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 2013 2013
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2016 2016
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2018 2018
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2018 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2013 2013