Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5073
Gene Symbol: PARN
PARN 		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
Entrez Id: 5073
Gene Symbol: PARN
PARN 		0.700 Biomarker disease GENOMICS_ENGLAND Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 25893599 2015
Entrez Id: 5073
Gene Symbol: PARN
PARN 		0.700 Biomarker disease GENOMICS_ENGLAND Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). 26342108 2015
Entrez Id: 5073
Gene Symbol: PARN
PARN 		0.700 GeneticVariation disease UNIPROT Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 25893599 2015
Entrez Id: 5073
Gene Symbol: PARN
PARN 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
Entrez Id: 5073
Gene Symbol: PARN
PARN 		0.700 Biomarker disease CTD_human
Entrez Id: 1736
Gene Symbol: DKC1
DKC1 		0.300 Biomarker disease GENOMICS_ENGLAND X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. 10364516 1999