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.
Nodular Sclerosis Classical Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 66 22 0.010 None 1.000 1 1 2019 2019
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 15 0.010 None 1.000 1 1 2006 2006
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.070 None 1.000 7 2 1997 2014
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 10 0.010 None 1.000 1 2 2018 2018
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 24 0.010 None 1.000 1 2 2018 2018
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 25 0.700 strong 1.000 12 25 1997 2015