Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4953
Gene Symbol: ODC1
ODC1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker GENOMICS_ENGLAND Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. 30475435

2018