Variant: rs111033171 

    present in Gene: ELP1
    present in Chromosome: 9
    Position on Chromosome: 108899816
    Alleles of this Variant: A/G

rs111033171 in ELP1 gene and Dysautonomia, Familial PMID 11179021 2001 Familial dysautonomia is caused by mutations of the IKAP gene.

PMID 16964593 2007 Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.

PMID 9536098 1998 Statistical features of human exons and their flanking regions.

PMID 11179008 2001 Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

PMID 23515154 2013 Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.

PMID 12116234 2002 Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.

PMID 22190446 2012 Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells.

PMID 27065010 2016 Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.