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: C3553830
Disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 		disease Disease or Syndrome 1 5 0.600 None 1.000 1 5 2012 2012
CUI: C0399372
Disease: Amelogenesis Imperfecta hypomaturation type
Amelogenesis Imperfecta hypomaturation type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 8 0.300 None 1.000 1 2012 2012
CUI: C4478871
Disease: Hypomineralized amelogenesis imperfecta
Hypomineralized amelogenesis imperfecta 		phenotype Finding 2 0.300 strong 1.000 1 2012 2012
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.120 None 1.000 2 2012 2016
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.100 None 0
CUI: C3665628
Disease: Hypomineralization of enamel of tooth
Hypomineralization of enamel of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 7 1 0.100 None 0