BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Developmental delay (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434618
rs121434618
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0424605
Disease:
Developmental delay (disorder) 		0.010 GeneticVariation BEFREE The severe male X-linked recessive microphthalmia syndrome ('Lenz') usually includes developmental delay in addition to the eye findings and is caused by hypomorphic BCOR variants, mainly by a specific missense variant c.254C > T, p.(Pro85Leu). 29974297 2019