Annotation Detail

Information
Associated Genes
CLPB
Associated Variants
CLPB MUTATION
CLPB MUTATION
Associated Disease
Severe Congenital Microcephaly
Source Database
DisGeNET
Description
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Pubmed
25650066
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs