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: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.020 None 1.000 2 2002 2018
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2014 2014
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		disease Congenital Abnormality 35 3 0.010 None 1.000 1 2013 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.050 None 1.000 5 2004 2017
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.050 None 1.000 5 2004 2017
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.040 None 1.000 4 2004 2019
CUI: C4015558
Disease: Temple syndrome
Temple syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.040 None 0.750 4 2015 2019
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.030 None 1.000 3 2010 2015
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 32 2 0.030 None 1.000 3 2017 2019
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.020 None 1.000 2 2009 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.020 None 1.000 2 1 2016 2018
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		group Stomatognathic Diseases Disease or Syndrome 326 22 0.020 None 1.000 2 1995 2005
CUI: C1842466
Disease: Uniparental disomy, paternal, chromosome 14
Uniparental disomy, paternal, chromosome 14 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.310 None 1.000 2 2008 2012
CUI: C0010073
Disease: Coronary Artery Vasospasm
Coronary Artery Vasospasm 		disease Cardiovascular Diseases Disease or Syndrome 30 9 0.010 None 1.000 1 1 2002 2002
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None < 0.001 1 2019 2019
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.010 None 1.000 1 2014 2014
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 0.300 None 1.000 1 2016 2016
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		disease Digestive System Diseases Disease or Syndrome 203 61 0.010 None 1.000 1 2019 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2014 2014
CUI: C0019112
Disease: Hemorrhoids
Hemorrhoids 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 24 0.010 None 1.000 1 2019 2019
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.010 None 1.000 1 2019 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None 1.000 1 2003 2003
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.010 None 1.000 1 2014 2014
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2019 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2015 2015