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: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2017 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2007 2007
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None < 0.001 1 2008 2008
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.010 None 1.000 1 1992 1992
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.010 None 1.000 1 2016 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.010 None 1.000 1 2016 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.010 None 1.000 1 2016 2016
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2016 2016
Pauciarticular juvenile rheumatoid arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 10 0.010 None 1.000 1 1995 1995
CUI: C0221765
Disease: Chronic schizophrenia
Chronic schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 48 7 0.010 None 1.000 1 2019 2019
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 1991 1991