CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.020 GeneticVariation disease BEFREE Does APC/C<sup>CDH1</sup> control the human brain size?: An Editorial Highlight for 'A novel human Cdh1 mutation impairs anaphase-promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation, and epilepsy' on page 103. 31441503 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.020 GeneticVariation disease BEFREE These results indicate that the loss of function of APC/C-Cdh1 caused by Cdh1 Asp187Gly mutation is a new cause of prenatal microcephaly, psychomotor retardation, and severe epilepsy. 31318984 2019