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: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid
disease Eye Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2017 2017
Autosomal recessive retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.010 None 1.000 1 2005 2005
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: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.010 None 1.000 1 2017 2017
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
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: 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