LHX3, LIM homeobox 3, 8022

N. diseases: 69; N. variants: 17
Disease: Pituitary Hormone Deficiency, Combined, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 Biomarker disease BEFREE In addition, it also expands the knowledge of LHX3-related CPHD3 phenotype and the allelic spectrum for this gene. 28302169 2017
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 GeneticVariation disease UNIPROT In addition, it also expands the knowledge of LHX3-related CPHD3 phenotype and the allelic spectrum for this gene. 28302169 2017
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 GermlineCausalMutation disease ORPHANET Genetic forms of hypopituitarism and their manifestation in the neonatal period. 19762173 2009
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 Biomarker disease GENOMICS_ENGLAND Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. 18407919 2008
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 Biomarker disease GENOMICS_ENGLAND Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. 18407919 2008
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 CausalMutation disease CLINVAR Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. 18407919 2008
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 GeneticVariation disease UNIPROT Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. 17327381 2007
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 GermlineCausalMutation disease ORPHANET Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. 10835633 2000
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. 10835633 2000
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 GeneticVariation disease UNIPROT Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. 10835633 2000
CUI: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		0.710 Biomarker disease CTD_human