PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation disease CLINVAR From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. 31448843 2019
CUI: C4225347
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		0.700 GeneticVariation disease UNIPROT Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
CUI: C4225347
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Long tails, short telomeres: Dyskeratosis congenita. 26116823 2015
CUI: C4225347
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
CUI: C4225347
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). 26342108 2015
CUI: C4225347
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 25893599 2015
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease GENOMICS_ENGLAND Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 25893599 2015
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease GENOMICS_ENGLAND Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). 26342108 2015
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 GeneticVariation disease UNIPROT Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 25893599 2015
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease GENOMICS_ENGLAND Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). 26342108 2015
CUI: C4225347
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		0.700 Biomarker disease CTD_human
CUI: C4225347
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		0.700 CausalMutation disease CLINVAR
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease CTD_human
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.670 GeneticVariation disease BEFREE PARN loss-of-function mutations cause a severe form of the hereditary disease dyskeratosis congenita (DC). 30770239 2019
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.670 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.670 GeneticVariation disease BEFREE Mutations in PARN are linked to dyskeratosis congenita and pulmonary fibrosis. 28402503 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		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
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.670 CausalMutation disease CLINVAR
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.550 Biomarker disease BEFREE The molecular features associated with incomplete penetrance of PARN-associated IPF have not been described. 31448843 2019