PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777090017
rs777090017
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225347
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		0.800 GeneticVariation UNIPROT Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
dbSNP: rs777090017
rs777090017
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225347
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		C 0.800 CausalMutation CLINVAR