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.
CUI: C3554279
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 		disease Disease or Syndrome; Congenital Abnormality 1 8 0.700 None 1.000 2 6 2010 2017
CUI: C3150215
Disease: CHROMOSOME 6q24-q25 DELETION SYNDROME
CHROMOSOME 6q24-q25 DELETION SYNDROME 		disease Disease or Syndrome 2 0.300 strong 1.000 1 2010 2010
CUI: C4509918
Disease: Polyvalvular heart disease syndrome
Polyvalvular heart disease syndrome 		disease Disease or Syndrome 1 0.300 None 1.000 1 2018 2018