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: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
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: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 5 2 0.550 None 1.000 7 2005 2015
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: C4268741
Disease: Age-related sarcopenia
Age-related sarcopenia 		disease Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
CUI: C1735378
Disease: Chronic polyarthritis
Chronic polyarthritis 		disease Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0342488
Disease: Mineralocorticoid Excess Syndrome, Apparent
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: C0263678
Disease: Acute arthritis
Acute arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0338657
Disease: Age-associated memory impairment
Age-associated memory impairment 		disease Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 7 0.010 None < 0.001 1 2018 2018
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		phenotype Nutritional and Metabolic Diseases Finding 21 0.300 None 1.000 1 2004 2004
CUI: C0342335
Disease: insulin resistance in diabetes
insulin resistance in diabetes 		disease Nutritional and Metabolic Diseases Disease or Syndrome 21 1 0.010 None 1.000 1 2013 2013
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: C0312414
Disease: Menstrual spotting
Menstrual spotting 		phenotype Sign or Symptom 27 2 0.010 None 1.000 1 2018 2018
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 33 6 0.010 None 1.000 1 2017 2017
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial 		phenotype Nutritional and Metabolic Diseases Finding 37 0.300 None 1.000 1 2004 2004
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None < 0.001 1 2018 2018
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None < 0.001 1 2018 2018
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2013 2013
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		disease Nutritional and Metabolic Diseases Disease or Syndrome 49 7 0.200 None 1.000 1 2004 2004
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction 		phenotype Endocrine System Diseases Disease or Syndrome 50 0.060 None 0.833 6 2009 2018
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: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 51 1 0.010 None 1.000 1 2019 2019
CUI: C0221074
Disease: Depression, Postpartum
Depression, Postpartum 		disease Female Urogenital Diseases and Pregnancy Complications; Mental Disorders Mental or Behavioral Dysfunction 54 6 0.010 None 1.000 1 2019 2019
CUI: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		phenotype Nutritional and Metabolic Diseases Sign or Symptom 55 3 0.330 None 1.000 4 2004 2019