Annotation Detail
Information
- Associated Genes
- CENPE
- Associated Variants
-
CENPE p.Lys1355Glu (p.K1355E)
(
ENST00000265148.9,
ENST00000380026.8 )
CENPE p.Asp933Tyr (p.D933Y) ( ENST00000265148.9, ENST00000380026.8 )
CENPE p.Asp933Asn (p.D933N) ( ENST00000265148.9, ENST00000380026.8 )
CENPE p.Lys1355Glu (p.K1355E) ( ENST00000265148.9, ENST00000380026.8 )
CENPE p.Asp933Tyr (p.D933Y) ( ENST00000265148.9, ENST00000380026.8 )
CENPE p.Asp933Asn (p.D933N) ( ENST00000265148.9, ENST00000380026.8 ) - Associated Disease
- Microcephaly 13, primary, autosomal recessive
- Source Database
- DisGeNET
- Description
- Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
- Pubmed
- 24748105
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- 2014
Drugs