| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. | 26808564 | 2016 |
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|
T | 0.800 | CausalMutation | CLINVAR | Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. | 27418648 | 2016 |
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|
T | 0.800 | CausalMutation | CLINVAR | Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. | 23959892 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. | 23453664 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. | 23453664 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. | 23591994 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. | 23329068 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. | 24009516 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. | 23959892 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome. | 19461895 | 2009 |