rs111033171, ELP1

N. diseases: 1
Disease: Dysautonomia, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 CausalMutation CLINVAR Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 27065010 2016
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 CausalMutation CLINVAR Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model. 23515154 2013
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 CausalMutation CLINVAR Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells. 22190446 2012
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 CausalMutation CLINVAR Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. 16964593 2007
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 CausalMutation CLINVAR Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. 12116234 2002
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 CausalMutation CLINVAR Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. 11179008 2001
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 CausalMutation CLINVAR Familial dysautonomia is caused by mutations of the IKAP gene. 11179021 2001
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 CausalMutation CLINVAR Statistical features of human exons and their flanking regions. 9536098 1998