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: C4225413
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		disease Disease or Syndrome 2 17 0.100 None 1.000 8 17 1995 2016
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.100 None 1.000 7 5 1997 2018
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 21 0.100 None 0 18
CUI: C4225369
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		disease Disease or Syndrome 2 6 0.100 None 0 6
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		disease Disease or Syndrome 3 5 0.100 None 0 1
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.010 None 1.000 1 2019 2019