LHX3, LIM homeobox 3, 8022

N. diseases: 69; N. variants: 17
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
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.430 Biomarker disease BEFREE Considering genotype/phenotype correlation, we suggest that the presence of SNHL and limited neck rotation should be considered in the differential diagnosis of CPHD3 to facilitate molecular diagnosis. 28302169 2017
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.430 GeneticVariation disease BEFREE LHX3 mutations are associated with growth hormone, prolactin, gonadotropin, and TSH deficiency; abnormal pituitary morphology; and may be accompanied with limited neck rotation and sensorineural hearing loss. 21249393 2011
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.430 GeneticVariation disease BEFREE This study therefore extends the phenotypic spectrum associated with LHX3 mutations to encompass variable sensorineural hearing loss and suggests a possible interaction between LHX3 and SOX2 likely to be important for development of both the inner ear and the anterior pituitary in human embryonic development. 18407919 2008
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.430 GeneticVariation disease LHGDN This study therefore extends the phenotypic spectrum associated with LHX3 mutations to encompass variable sensorineural hearing loss and suggests a possible interaction between LHX3 and SOX2 likely to be important for development of both the inner ear and the anterior pituitary in human embryonic development. 18407919 2008
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.430 Biomarker disease GENOMICS_ENGLAND This study therefore extends the phenotypic spectrum associated with LHX3 mutations to encompass variable sensorineural hearing loss and suggests a possible interaction between LHX3 and SOX2 likely to be important for development of both the inner ear and the anterior pituitary in human embryonic development. 18407919 2008
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.430 Biomarker disease HPO
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018