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: 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 0.010 None 1.000 1 1993 1993
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.010 None 1.000 1 2000 2000
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.010 None 1.000 1 2000 2000
Mineralocorticoid Excess Syndrome, Apparent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2000 2000
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.020 None 1.000 2 2002 2003
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
disease Disease or Syndrome 1 0.200 None 1.000 6 1997 2004
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2
disease Disease or Syndrome 2 1 0.300 None 1.000 6 1 1997 2004
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.300 None 1.000 1 2004 2004
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial
phenotype Nutritional and Metabolic Diseases Finding 37 0.300 None 1.000 1 2004 2004
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias
disease Nutritional and Metabolic Diseases Disease or Syndrome 49 7 0.200 None 1.000 1 2004 2004
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.200 None 1.000 1 2004 2004
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.010 None 1.000 1 2004 2004
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal
phenotype Nutritional and Metabolic Diseases Finding 21 0.300 None 1.000 1 2004 2004
CUI: C0038433
Disease: Streptozotocin Diabetes
Streptozotocin Diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2004 2004
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2004 2004
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 151 1 0.300 None 1.000 1 2005 2005
CUI: C1392786
Disease: Cognitive changes
Cognitive changes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 50 15 0.010 None 1.000 1 2 2006 2006
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 2008 2008
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2008 2008
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.010 None 1.000 1 2010 2010
CUI: C0271885
Disease: Hypothalamic obesity
Hypothalamic obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2010 2010
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.020 None 1.000 2 2003 2011
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2011 2011
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.200 None 1.000 1 2011 2011
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 108 24 0.010 None 1.000 1 2011 2011