HESX1, HESX homeobox 1, 8820

N. diseases: 6; N. variants: 11
Disease: Pituitary stalk interruption syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		0.320 GermlineCausalMutation disease ORPHANET A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial PSIS. 21270112 2011