rs780359925, POU1F1

N. diseases: 2
Disease: Panhypopituitarism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Panhypopituitarism
CUI: C0242343
Disease: Panhypopituitarism
0.010 GeneticVariation BEFREE Combined pituitary hormone deficiency in this patient is caused by loss of POU1F1 function by two novel mechanisms, namely aberrant splicing (IVS1+3nt (A>G) and protein instability (R265W). 22010633 2012