rs137904970, LHX3

N. diseases: 2
Disease: Isolated somatotropin deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
0.010 GeneticVariation BEFREE The patient harboring the c.249-1G>A mutation exhibited isolated growth hormone deficiency at diagnosis and a gradual loss of ACTH, whereas the patient with the p.V75I mutation exhibited multiple pituitary hormone deficiency. 23029363 2012