rs779490520, LHX4

N. diseases: 1
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 We identified the first novel homozygous missense variant (c.377C>T, p.T126M) in two deceased male patients of Pakistani origin with severe panhypopituitarism associated with anterior pituitary aplasia and posterior pituitary ectopia. 25871839 2015