Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | Two IKBKAP mutations, IVS20(+6T --> C) and R696P, have been identified in FD patients of AJ descent. | 12116234 | 2002 |
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|
G | 0.800 | CausalMutation | CLINVAR | Familial dysautonomia is caused by mutations of the IKAP gene. | 11179021 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Familial dysautonomia is caused by mutations of the IKAP gene. | 11179021 | 2001 |
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|
G | 0.800 | CausalMutation | CLINVAR | Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. | 11179008 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. | 11179008 | 2001 |
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|
G | 0.800 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. | 27065010 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model. | 23515154 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells. | 22190446 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. | 16964593 | 2007 |
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|
G | 0.700 | CausalMutation | CLINVAR | Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. | 12116234 | 2002 |
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|
G | 0.700 | CausalMutation | CLINVAR | Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. | 11179008 | 2001 |
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|
G | 0.700 | CausalMutation | CLINVAR | Familial dysautonomia is caused by mutations of the IKAP gene. | 11179021 | 2001 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Familial dysautonomia is caused by mutations of the IKAP gene. | 11179021 | 2001 |
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|
T | 0.700 | CausalMutation | CLINVAR | Familial dysautonomia is caused by mutations of the IKAP gene. | 11179021 | 2001 |
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|
G | 0.700 | CausalMutation | CLINVAR | Statistical features of human exons and their flanking regions. | 9536098 | 1998 |
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|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
ACTTCT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |