DisGeNET - a database of gene-disease associations

HESX1, HESX homeobox 1, 8820

N. diseases: 143; N. variants: 22

Disease: Septo-Optic Dysplasia ×

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:

rs28936702

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.820

GeneticVariation

BEFREE

The p.R160C mutation was previously reported in a case with SOD, CPHD and ectopic posterior pituitary (EPP).

27000987

2016

dbSNP:

rs28936702

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.820

GeneticVariation

BEFREE

Although HESX1(R160C) has only been shown to be associated with the SOD phenotype in children homozygous for the mutation, HESX1(R160C) can inhibit DNA binding by wild-type HESX1 both in vitro and in vivo in cell culture.

11748154

2001

dbSNP:

rs28936702

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.820

GeneticVariation

UNIPROT

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

11136712

2001

dbSNP:

rs28936702

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.820

GeneticVariation

UNIPROT

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

9620767

1998

dbSNP:

rs28936702

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.820

CausalMutation

CLINVAR

dbSNP:

rs121909173

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.710

GeneticVariation

UNIPROT

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

26781211

2016

dbSNP:

rs121909173

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.710

GeneticVariation

BEFREE

The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple hypopituitarism, firstly GH and, afterwards, TSH and ACTH deficiencies, in a pluri-malformative syndrome characterized by short stature and anatomical malformations not associated with a classical SOD phenotype.

18852528

2008

dbSNP:

rs121909173

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.710

GeneticVariation

UNIPROT

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

14561704

2003

dbSNP:

rs121909173

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.710

GeneticVariation

UNIPROT

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

11136712

2001

dbSNP:

rs1238248024

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

CLINVAR

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.

19093031

2009

dbSNP:

rs104893742

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

UNIPROT

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

17148560

2007

dbSNP:

rs28936704

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

UNIPROT

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

17148560

2007

dbSNP:

rs104893742

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

UNIPROT

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

11136712

2001

dbSNP:

rs1238248024

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

CLINVAR

Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.

11748154

2001

dbSNP:

rs28936703

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

UNIPROT

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

11136712

2001

dbSNP:

rs28936704

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

UNIPROT

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

11136712

2001

dbSNP:

rs1238248024

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

CLINVAR

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

9620767

1998

dbSNP:

rs28936703

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

UNIPROT

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

9620767

1998

dbSNP:

rs28936416

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

UNIPROT

dbSNP:

rs754137696

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

CausalMutation

CLINVAR

dbSNP:

rs768165720

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

GeneticVariation

UNIPROT

dbSNP:

rs777223697

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

CausalMutation

CLINVAR

dbSNP:

rs777833871

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.700

CausalMutation

CLINVAR

dbSNP:

rs9878928

Entrez Id:	8820
Gene Symbol:	HESX1

HESX1

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

0.010

GeneticVariation

BEFREE

A polymorphism (1772 A > G; N125S) was identified in a patient with SOD.

20694410

2010