Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 MUTATION
KRT2 MUTATION - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- DisGeNET
- Description
- A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.
- Pubmed
- 9204966
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.484343069953285
- Year of publication
- 1997
Drugs