Annotation Detail
Information
- Associated Genes
- CDH13
- Associated Variants
-
CDH13 MUTATION
CDH13 MUTATION - Associated Disease
- common variable immunodeficiency
- Source Database
- DisGeNET
- Description
- Given that residual p105 and p50—translated from the non-mutated alleles—were normal, and altered p50 proteins were absent, we conclude that the CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency.
- Pubmed
- 26279205
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs