Annotation Detail
Information
- Associated Genes
- POU1F1
- Associated Variants
-
POU1F1 p.Ser205Arg (p.S205R)
(
ENST00000344265.8,
ENST00000350375.7,
ENST00000560656.1 )
POU1F1 p.Ser205Arg (p.S205R) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 ) - Associated Disease
- panhypopituitarism
- Source Database
- DisGeNET
- Description
- Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.
- Pubmed
- 16968807
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0105102881410111
- Year of publication
- 2006
Drugs