DisGeNET - a database of gene-disease associations

Dysautonomia, Familial, C0013364

Variant: rs137853022 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137853022

ELP1

0.800

CausalMutation

CLINVAR

Two IKBKAP mutations, IVS20(+6T --> C) and R696P, have been identified in FD patients of AJ descent.

12116234

2002

dbSNP:

rs137853022

ELP1

0.800

CausalMutation

CLINVAR

Familial dysautonomia is caused by mutations of the IKAP gene.

11179021

2001

dbSNP:

rs137853022

ELP1

0.800

GeneticVariation

UNIPROT

Familial dysautonomia is caused by mutations of the IKAP gene.

11179021

2001

dbSNP:

rs137853022

ELP1

0.800

CausalMutation

CLINVAR

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

11179008

2001

dbSNP:

rs137853022

ELP1

0.800

GeneticVariation

UNIPROT

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

11179008

2001

dbSNP:

rs137853022

ELP1

0.800

GeneticVariation

CLINVAR