Source: CLINVAR ×
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: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		disease Disease or Syndrome 3 11 0.700 None 1.000 7 11 2014 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 32 36 0.150 None 1.000 0 1 2015 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.140 None 1.000 0 1 2016 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.120 None 1.000 0 1 2014 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 5 0.100 None 0 1