Source: CURATED ×
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
disease Disease or Syndrome 1 9 0.700 strong 1.000 3 9 1988 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
disease Disease or Syndrome 1 4 0.600 None 1.000 1 4 2015 2015
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 93 4 0.330 None 1.000 1 2016 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 109 90 0.330 None 1.000 1 2013 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 300 14 0.310 None 1.000 1 2006 2015
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 82 0.300 None 1.000 1 2018 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2018 2018
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 297 47 0.300 None 1.000 1 2006 2006
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 293 110 0.300 None 1.000 1 2006 2006
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2018 2018