Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.400 Biomarker phenotype CTD_human Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 19029900 2008
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.400 Biomarker phenotype CTD_human Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. 12719380 2003
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.400 Biomarker phenotype HPO