OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 Biomarker disease GENOMICS_ENGLAND Recent advances in central congenital hypothyroidism. 26416826 2015
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 GeneticVariation disease UNIPROT A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. 22715480 2012
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 Biomarker disease GENOMICS_ENGLAND Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. 19965921 2010
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 GeneticVariation disease UNIPROT A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		0.600 CausalMutation disease CLINVAR