| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA. | 25219674 | 2014 |
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|
0.700 | GeneticVariation | UNIPROT | Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. | 21602826 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Clinical utility gene card for: dyskeratosis congenita. | 21610750 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. | 19879169 | 2010 |
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|
0.700 | GeneticVariation | UNIPROT | Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. | 19734544 | 2009 |
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|
0.700 | GeneticVariation | UNIPROT | Identification of a novel mutation in DKC1 in dyskeratosis congenita. | 18802941 | 2009 |
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|
0.700 | GeneticVariation | UNIPROT | X-linked dyskeratosis congenita in Malaysia. | 17417794 | 2008 |
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|
0.700 | GeneticVariation | UNIPROT | Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. | 15304085 | 2004 |
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|
0.700 | GeneticVariation | UNIPROT | X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. | 10364516 | 1999 |
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|
0.700 | GeneticVariation | UNIPROT | X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. | 9590285 | 1998 |