LHX3, LIM homeobox 3, 8022

N. diseases: 69; N. variants: 17
Disease: Pituitary dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.120 Biomarker disease BEFREE 80 index cases [54 with isolated growth hormone deficiency (IGHD), 26 with combined pituitary hormone deficiency (CPHD)] were screened for molecular defects in GH1 (including LCR-GH1), GHRHR, GHSR, GHRH, PROP1, POU1F1, HESX1, LHX3, LHX4 and SOX3. 25557026 2015
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.120 GeneticVariation disease BEFREE The objective of the study was to determine the frequency and nature of LHX3 mutations in patients with isolated GH deficiency or combined pituitary hormone deficiency (CPHD) and characterize the molecular consequences of mutations. 17327381 2007
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.120 Biomarker disease HPO