Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23001
Gene Symbol: WDFY3
WDFY3
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 Biomarker BEFREE In summary, we present WDFY3 as a novel gene linked to mild to moderate neurodevelopmental delay and intellectual disability and conclude that variants putatively causing haploinsufficiency lead to macrocephaly, while an opposing pathomechanism due to variants in the PH-domain of WDFY3 leads to microcephaly. 31327001

2019