DisGeNET - a database of gene-disease associations

LHX3, LIM homeobox 3, 8022

N. diseases: 69; N. variants: 17

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894117

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.800

GeneticVariation

UNIPROT

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

28302169

2017

dbSNP:

rs137854503

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.800

GeneticVariation

UNIPROT

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

28302169

2017

dbSNP:

rs104894117

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.800

GeneticVariation

UNIPROT

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

17327381

2007

dbSNP:

rs137854503

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.800

GeneticVariation

UNIPROT

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

17327381

2007

dbSNP:

rs104894117

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.800

GeneticVariation

UNIPROT

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

10835633

2000

dbSNP:

rs137854503

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.800

GeneticVariation

UNIPROT

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

10835633

2000

dbSNP:

rs104894117

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs137854503

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs11103379

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs11103379

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs7860634

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs12378344

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Co-regulatory networks of human serum proteins link genetics to disease.

30072576

2018

dbSNP:

rs2274115

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0004238
Disease:

Atrial Fibrillation

0.700

GeneticVariation

GWASCAT

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

30061737

2018

dbSNP:

rs11103377

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0202231
Disease:

Thyroxine measurement

0.700

GeneticVariation

GWASCAT

Whole-genome sequence-based analysis of thyroid function.

25743335

2015

dbSNP:

rs2274116

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0016529
Disease:

Forced expiratory volume function

0.700

GeneticVariation

GWASCAT

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

26635082

2015

dbSNP:

rs2274116

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

26635082

2015

dbSNP:

rs7860634

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0202230
Disease:

Thyroid stimulating hormone measurement

0.700

GeneticVariation

GWASDB

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

23408906

2013

dbSNP:

rs7860634

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0202231
Disease:

Thyroxine measurement

0.700

GeneticVariation

GWASCAT

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

23408906

2013

dbSNP:

rs7860634

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0441683
Disease:

Hormone measurement

0.700

GeneticVariation

GWASCAT

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

23408906

2013

dbSNP:

rs587776711

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.700

CausalMutation

CLINVAR

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

18407919

2008

dbSNP:

rs137854504

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

AGGA

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854505

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854506

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776712

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C3489787
Disease:

Pituitary Hormone Deficiency, Combined, 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs1441753402

Entrez Id:	8022
Gene Symbol:	LHX3

LHX3

CUI:	C0020635
Disease:

Hypopituitarism

0.010

GeneticVariation

BEFREE

We report here functional studies of three allelic variants, including the first heterozygous variant of LHX3 NM_178138.5(LHX3):c.587T>C (p.(Leu196Pro)) that may be responsible for a milder phenotype of hypopituitarism.

30262920

2019