DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Dysautonomia, Familial ×

Gene: ELP1 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

Biomarker

MGD

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

Biomarker

CTD_human

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

Biomarker

GENOMICS_ENGLAND

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

8102296

1993

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

CausalMutation

CLINVAR

Statistical features of human exons and their flanking regions.

9536098

1998

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

BEFREE

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

11179008

2001

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

CausalMutation

CLINVAR

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

11179008

2001

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

UNIPROT

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

11179008

2001

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

UNIPROT

These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.

11179021

2001

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

CLINVAR

These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.

11179021

2001

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

BEFREE

These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.

11179021

2001

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

CausalMutation

CLINVAR

These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.

11179021

2001

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

LHGDN

Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.

12102458

2002

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

CausalMutation

CLINVAR

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.

12116234

2002

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

LHGDN

We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy.

12577200

2003

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

BEFREE

We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy.

12577200

2003

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

Biomarker

GENOMICS_ENGLAND

Identification of the first non-Jewish mutation in familial Dysautonomia.

12687659

2003

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

Biomarker

BEFREE

These findings suggest that in vivo supplementation with tocotrienols may elevate IKBKAP gene expression and in turn increase the amount of functional IKAP protein produced in FD patients.

12788105

2003

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

BEFREE

Familial dysautonomia (FD) is the most common congenital sensory neuropathy in Ashkenazi Jews, caused by a single major mutation in the IKBKAP gene.

12831599

2003

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

Biomarker

BEFREE

The gene for FD was recently identified as IKBKAP.

12885336

2003

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

BEFREE

In 2001, we identified two mutations in the IKBKAP gene that result in FD.

12914982

2003

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

AlteredExpression

BEFREE

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia.

14521957

2003

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

BEFREE

Familial dysautonomia (FD) is caused by mutations in IKBKAP, and all cases described to date involve an intron 20 mutation that results in a unique pattern of tissue-specific exon skipping.

14709595

2004

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

BEFREE

Mutations in human Elp1p (IKAP) are a known cause of familial dysautonomia (FD).

15780940

2005

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

GeneticVariation

BEFREE

The common familial dysautonomia (FD) mutation causes a splicing defect that leads to production of both wild-type (WT) and mutant (MU) IKBKAP mRNA.

16032383

2005

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

CUI:	C0013364
Disease:	Dysautonomia, Familial

Dysautonomia, Familial

1.000

AlteredExpression

BEFREE

These findings provide new insight into the pathophysiology of FD and demonstrate the value of therapeutic approaches designed to elevate cellular levels of functional IKAP and MAO A.

16125677

2005