Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Ala16Thr (p.A16T)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Ala16Thr (p.A16T) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
- Pubmed
- 15126570
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.302953446367544
- Year of publication
- 2004
Drugs