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: C0013291
Disease: Duodenal Neoplasms
Duodenal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2002 2002
CUI: C0206186
Disease: Leukoplakia, Hairy
Leukoplakia, Hairy 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Infections; Stomatognathic Diseases Neoplastic Process 6 0.010 None 1.000 1 1991 1991
CUI: C0600272
Disease: Morphine Abuse
Morphine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 8 0.300 None 1.000 1 2001 2001
CUI: C1332198
Disease: Adult Clear Cell Sarcoma of Soft Parts
Adult Clear Cell Sarcoma of Soft Parts 		disease Neoplasms Neoplastic Process 10 0.020 None 0.500 2 2009 2018
CUI: C1332964
Disease: Childhood Clear Cell Sarcoma of Soft Parts
Childhood Clear Cell Sarcoma of Soft Parts 		disease Neoplasms Neoplastic Process 10 0.020 None 0.500 2 2009 2018
CUI: C1509147
Disease: Histiocytoma
Histiocytoma 		disease Neoplasms Neoplastic Process 10 0.100 None 0
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2017 2017
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		disease 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 14 0.010 None 1.000 1 2008 2008
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2017 2017
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		disease Digestive System Diseases Disease or Syndrome 17 10 0.010 None 1.000 1 2017 2017
CUI: C0016063
Disease: Osteitis Fibrosa Disseminata
Osteitis Fibrosa Disseminata 		disease Musculoskeletal Diseases Disease or Syndrome 19 0.010 None 1.000 1 2012 2012
CUI: C0854530
Disease: Infection by human herpesvirus 6
Infection by human herpesvirus 6 		disease Infections Disease or Syndrome 19 0.010 None 1.000 1 1991 1991
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 10 0.020 None 1.000 2 2017 2019
CUI: C0206644
Disease: Histiocytoma, Benign Fibrous
Histiocytoma, Benign Fibrous 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2007 2007
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 25 0.010 None 1.000 1 2014 2014
CUI: C0036429
Disease: Sclerosis
Sclerosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.010 None 1.000 1 2003 2003
CUI: C0030662
Disease: Gambling, Pathological
Gambling, Pathological 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 26 9 0.010 None 1.000 1 2019 2019
CUI: C1266127
Disease: Histiocytoma, Angiomatoid Fibrous
Histiocytoma, Angiomatoid Fibrous 		disease Neoplasms Neoplastic Process 28 0.400 None 1.000 11 2007 2019
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 22 0.010 None 1.000 1 2015 2015
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 88 0.010 None 1.000 1 2012 2012
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 31 6 0.010 None 1.000 1 2014 2014
CUI: C3888788
Disease: Minimal hepatic encephalopathy
Minimal hepatic encephalopathy 		disease Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C0026603
Disease: Motion Sickness
Motion Sickness 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 35 0.010 None 1.000 1 2017 2017
CUI: C0154575
Disease: Rumination Disorders
Rumination Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 33 13 0.020 None 1.000 2 2011 2011
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 35 12 0.030 None 0.667 3 2003 2006