Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. | 21205863 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. | 21602826 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. | 21205863 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. | 21602826 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. | 21205863 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. | 21602826 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. | 21205863 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. | 21602826 | 2011 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR |