rs1292127844, HESX1

N. diseases: 1
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 Among 92 CPHD patients, we identified a novel heterozygous missense mutation c.401C>G (p.Pro134Arg) in a patient with CPHD, pituitary malformation, and an underdeveloped left optic nerve. 22715480 2012