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: C1853800
Disease: Familial Wilms tumor 2
Familial Wilms tumor 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.300 None 0
CUI: C3887743
Disease: WILMS TUMOR 2
WILMS TUMOR 2 		disease Disease or Syndrome 3 0.310 limited 1.000 1 1997 1997
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 30 0.070 None 1.000 7 1991 1999
CUI: C0266345
Disease: Congenital urethral valve
Congenital urethral valve 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 5 0.100 None 0
CUI: C1836674
Disease: Short distal phalanx of the 5th finger
Short distal phalanx of the 5th finger 		phenotype Finding 6 2 0.100 None 0
CUI: C1851720
Disease: Adrenocortical cytomegaly
Adrenocortical cytomegaly 		phenotype Finding 6 0.100 None 0
CUI: C1851722
Disease: Overgrowth of external genitalia
Overgrowth of external genitalia 		phenotype Finding 6 0.100 None 0
CUI: C1851733
Disease: Pancreatic hyperplasia
Pancreatic hyperplasia 		phenotype Finding 6 0.100 None 0
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 98 0.040 None 1.000 4 2013 2019
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 57 0.010 None 1.000 1 2014 2014
CUI: C0677608
Disease: Chorioangioma
Chorioangioma 		disease Neoplasms Neoplastic Process 9 0.010 None < 0.001 1 2005 2005
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		phenotype Finding 9 5 0.100 None 0
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		phenotype Finding 9 0.100 None 0
CUI: C4015558
Disease: Temple syndrome
Temple syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C0019188
Disease: Hepatitis, Animal
Hepatitis, Animal 		disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 11 0.300 None 1.000 1 2008 2008
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 11 0.010 None 1.000 1 2008 2008
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		phenotype Finding 12 4 0.100 None 0
CUI: C1112486
Disease: Aggressive Systemic Mastocytosis
Aggressive Systemic Mastocytosis 		disease Neoplasms; Immune System Diseases Neoplastic Process 13 2 0.020 None 1.000 2 2015 2017
CUI: C0152256
Disease: Disuse osteoporosis
Disuse osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 14 6 0.010 None 1.000 1 2000 2000
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		phenotype Finding 14 1 0.100 None 0
CUI: C0017547
Disease: Gigantism
Gigantism 		disease Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2006 2006
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 26 0.070 None 1.000 7 1991 2011
CUI: C1367536
Disease: Nasopharyngeal Angiofibroma
Nasopharyngeal Angiofibroma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2003 2003
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		phenotype Finding 17 0.100 None 0