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: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.200 None 1.000 1 2007 2007
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2019 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.700 None 0.964 56 2 1995 2019
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 15 0.800 strong 0.981 52 15 1995 2019
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.100 None 0.778 18 3 1996 2017
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.400 None 1.000 13 2001 2019
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 0.100 None 1.000 13 1996 2018
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 84 6 0.070 None 1.000 7 1999 2019
Mineralocorticoid Excess Syndrome, Apparent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.550 None 1.000 7 1 1996 2019
CUI: C0020488
Disease: Hypernatremia
Hypernatremia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 59 3 0.050 None 1.000 5 1999 2014
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
disease Endocrine System Diseases Disease or Syndrome 126 9 0.040 None 1.000 4 2003 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.030 None 0.667 3 2010 2018
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
phenotype Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 186 43 0.030 None 1.000 3 2013 2018
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.020 None 1.000 2 2010 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.020 None 1.000 2 2006 2015
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.310 None 1.000 2 2002 2006
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.020 None 1.000 2 2007 2010
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.020 None 0.500 2 2009 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.020 None 1.000 2 1999 2005
CUI: C0023343
Disease: Leprosy
Leprosy
disease Infections Disease or Syndrome 190 120 0.020 None 1.000 2 2007 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.310 None 1.000 2 2004 2004
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.020 None 1.000 2 2014 2018
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.210 None 1.000 2 2007 2014
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.020 None 0.500 2 2018 2019