| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.670 | GeneticVariation | disease | BEFREE | PARN loss-of-function mutations cause a severe form of the hereditary disease dyskeratosis congenita (DC). | 30770239 | 2019 | ||||
|
0.670 | Biomarker | disease | GENOMICS_ENGLAND | Germline Genetic Predisposition to Hematologic Malignancy. | 28297620 | 2017 | ||||
|
0.670 | GeneticVariation | disease | BEFREE | Mutations in PARN are linked to dyskeratosis congenita and pulmonary fibrosis. | 28402503 | 2017 | ||||
|
0.670 | AlteredExpression | disease | BEFREE | Here, we show that PARN depletion reduces the levels of abundant human Y RNAs, which might contribute to the severe phenotype of DC observed in patients. | 28760775 | 2017 | ||||
|
0.670 | Biomarker | disease | BEFREE | Importantly, PARN-deficient patient cells manifested short telomeres and an aberrant ribosome profile similar to those described in some variants of dyskeratosis congenita. | 26342108 | 2015 | ||||
|
0.670 | GeneticVariation | disease | BEFREE | Here, using somatic cells and induced pluripotent stem cells (iPSCs) from patients with dyskeratosis congenita with PARN mutations, we show that PARN is required for the 3'-end maturation of the telomerase RNA component (TERC). | 26482878 | 2015 | ||||
|
0.670 | GermlineCausalMutation | disease | ORPHANET | Collectively, these results identify a role for PARN in telomere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe DC. | 25893599 | 2015 | ||||
|
0.670 | Biomarker | disease | BEFREE | Collectively, these results identify a role for PARN in telomere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe DC. | 25893599 | 2015 | ||||
|
0.670 | Biomarker | disease | BEFREE | Together, the results of this study support PARN as a DC-associated gene and suggest a potential link between p53 and telomere shortening. | 25893598 | 2015 | ||||
|
0.670 | CausalMutation | disease | CLINVAR |