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: C2348101
Disease: Destructive Arthritis
Destructive Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 23 0.010 None 1.000 1 2005 2005
CUI: C0036396
Disease: Sciatica
Sciatica 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 24 4 0.010 None 1.000 1 2018 2018
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 6 0.010 None 1.000 1 2017 2017
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		disease Nervous System Diseases Disease or Syndrome 25 26 0.010 None 1.000 1 2009 2009
CUI: C0007192
Disease: Cardiomyopathy, Alcoholic
Cardiomyopathy, Alcoholic 		disease Chemically-Induced Disorders; Cardiovascular Diseases Disease or Syndrome 30 0.010 None 1.000 1 2018 2018
CUI: C0019087
Disease: Hemorrhagic Disorders
Hemorrhagic Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 30 3 0.010 None 1.000 1 2006 2006
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 2005 2005
CUI: C1290807
Disease: Diarrheal disorder
Diarrheal disorder 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 32 0.010 None 1.000 1 2019 2019
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		disease Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 33 22 0.010 None 1.000 1 2015 2015
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 34 16 0.010 None 1.000 1 2005 2005
CUI: C0877430
Disease: Asthma chronic
Asthma chronic 		disease Disease or Syndrome 36 0.010 None 1.000 1 2017 2017
CUI: C0206525
Disease: Tuberculosis, Drug-Resistant
Tuberculosis, Drug-Resistant 		disease Infections Disease or Syndrome 37 0.010 None 1.000 1 2009 2009
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		disease Neoplastic Process 38 2 0.010 None 1.000 1 2019 2019
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		disease Disease or Syndrome 39 9 0.010 None 1.000 1 2019 2019
CUI: C0178782
Disease: Orofacial Pain
Orofacial Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 40 0.020 None 0.500 2 2017 2019
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 41 30 0.010 None 1.000 1 2001 2001
CUI: C0264423
Disease: Asthma, Occupational
Asthma, Occupational 		disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2018 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 42 385 0.010 None 1.000 1 2010 2010
CUI: C0035613
Disease: Rift Valley Fever
Rift Valley Fever 		disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 45 0.010 None 1.000 1 2018 2018
CUI: C0574143
Disease: Liver calculus
Liver calculus 		disease Disease or Syndrome 45 0.010 None 1.000 1 2015 2015
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 45 8 0.010 None 1.000 1 2012 2012
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.010 None 1.000 1 2012 2012
CUI: C1260954
Disease: Morphologically altered structure
Morphologically altered structure 		disease Anatomical Abnormality 46 0.010 None < 0.001 1 2017 2017
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		disease Nervous System Diseases Disease or Syndrome 46 27 0.010 None 1.000 1 2006 2006
CUI: C0003949
Disease: Asbestosis
Asbestosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 47 2 0.010 None 1.000 1 2008 2008