Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 MUTATION
KRT2 MUTATION
KRT2 p.Glu476Lys (p.E476K) ( ENST00000309680.4 )
KRT2 p.Glu476Lys (p.E476K) ( ENST00000309680.4 ) - Associated Disease
- Ichthyosis bullosa of Siemens
- Source Database
- DisGeNET
- Description
- Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.
- Pubmed
- 9804344
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.484343069953285
- Year of publication
- 1998
Drugs