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.
Benign recurrent intrahepatic cholestasis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2002 2002
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.010 None 1.000 1 2019 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 1991 1991
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 1998 1998
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma
disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 1991 1991
CUI: C0311361
Disease: Adenomatous goiter
Adenomatous goiter
disease Neoplasms; Endocrine System Diseases Neoplastic Process 23 4 0.010 None 1.000 1 1993 1993
Maturity onset diabetes mellitus in young
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.010 None 1.000 1 2001 2001
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 1993 1993
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.010 None 1.000 1 2010 2010
CUI: C0403824
Disease: Teratozoospermia
Teratozoospermia
disease Male Urogenital Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 2019 2019
CUI: C0424166
Disease: Social Anxiety
Social Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 57 6 0.010 None 1.000 1 2009 2009
CUI: C0451641
Disease: Urolithiasis
Urolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 33 0.010 None 1.000 1 2017 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 1990 1990
Secondary malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 2017 2017
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 2012 2012
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.010 None 1.000 1 2018 2018
CUI: C0264010
Disease: Hepatic osteodystrophy
Hepatic osteodystrophy
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 2015 2015
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 111 20 0.010 None 1.000 1 2019 2019
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 96 0.010 None 1.000 1 2018 2018
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.010 None 1.000 1 2019 2019
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 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 0.010 None 1.000 1 2017 2017
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial
disease Respiratory Tract Diseases Disease or Syndrome 66 9 0.010 None 1.000 1 2002 2002
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
disease Eye Diseases Disease or Syndrome 94 74 0.010 None 1.000 1 2009 2009
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 1996 1996