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.
Epilepsy, Nocturnal Frontal Lobe, Type 1
disease Nervous System Diseases Disease or Syndrome 1 2 0.700 None 1.000 0 2 1995 2003
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
disease Nervous System Diseases Disease or Syndrome 3 3 0.500 None 1.000 5 1 1995 2015
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.440 None 1.000 9 1 1999 2019
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3 11 0.100 None 0 1
Epilepsy, Nocturnal Frontal Lobe, Type 4
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3 10 0.100 None 0 2
Epilepsy, Nocturnal Frontal Lobe, Type 3
disease Nervous System Diseases Disease or Syndrome 2 4 0.100 None 0 1