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: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None < 0.001 1 2018 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.010 None 1.000 1 2017 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2013 2013
CUI: C0039103
Disease: Synovitis
Synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 197 0.010 None 1.000 1 2011 2011
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 359 0.010 None 1.000 1 2019 2019
CUI: C0235989
Disease: Renal interstitial fibrosis
Renal interstitial fibrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 138 0.010 None 1.000 1 2019 2019
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		disease Stomatognathic Diseases Disease or Syndrome 64 8 0.010 None 1.000 1 2019 2019
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.010 None 1.000 1 2019 2019
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		group Wounds and Injuries Disease or Syndrome 108 40 0.010 None 1.000 1 2015 2015
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2019 2019
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		disease Digestive System Diseases Disease or Syndrome 264 58 0.010 None 1.000 1 2002 2002
CUI: C1096285
Disease: Arterial fibrosis
Arterial fibrosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.010 None 1.000 1 2016 2016
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.010 None 1.000 1 2019 2019
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 33 8 0.010 None 1.000 1 1 2018 2018
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease Eye Diseases Disease or Syndrome 225 12 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 60 2 0.100 None 0
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease Nervous System Diseases Disease or Syndrome 35 4 0.100 None 0
CUI: C0264324
Disease: Calcification of trachea
Calcification of trachea 		disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability 		disease Disease or Syndrome 7 0.100 None 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4024579
Disease: Osteolysis involving bones of the feet
Osteolysis involving bones of the feet 		disease Musculoskeletal Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0