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: C1970822
Disease: Mental Retardation, X-Linked, Syndromic 14
Mental Retardation, X-Linked, Syndromic 14 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 5 0.700 strong 1.000 3 5 2007 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 54 69 0.120 None 1.000 3 1 2007 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.110 None 1.000 3 1 2007 2012
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 11 14 0.100 None 1.000 3 1 2007 2012
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 29 30 0.100 None 1.000 3 1 2007 2012
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 3 1 2007 2012