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: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2018 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.020 None 1.000 2 2017 2018
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.020 None 1.000 2 2003 2007
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 181 5 0.010 None 1.000 1 2012 2012
CUI: C0280248
Disease: stage, chronic lymphocytic leukemia
stage, chronic lymphocytic leukemia 		phenotype Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 1992 1992
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 6 0.010 None 1.000 1 2018 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2018 2018
CUI: C0238065
Disease: Secondary Biliary Cholangitis
Secondary Biliary Cholangitis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 42 0.300 None 1.000 2 2010 2019
CUI: C0796149
Disease: Scott Syndrome
Scott Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 0.010 None 1.000 1 1998 1998
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2012 2012
CUI: C2004489
Disease: Regurgitation
Regurgitation 		phenotype Sign or Symptom 66 0.010 None 1.000 1 2019 2019
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0023486
Disease: Prolymphocytic Leukemia
Prolymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 37 2 0.010 None 1.000 1 1990 1990
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 31 10 0.400 strong 1.000 42 1 1996 2020
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		disease Digestive System Diseases Disease or Syndrome 264 58 0.560 None 0.900 10 2004 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2014 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.060 None 1.000 6 1999 2019
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.390 None 0.818 11 2 1997 2019
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis 		phenotype Digestive System Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma 		disease Neoplasms; Immune System Diseases Neoplastic Process 142 8 0.010 None 1.000 1 1992 1992
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.010 None 1.000 1 1996 1996