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: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 34 1 0.010 None 1.000 1 2017 2017
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.010 None 1.000 1 2000 2000
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2019 2019
CUI: C1833321
Disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2000 2000
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0