PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 ×
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: 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: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease CTD_human