PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
Disease: HOYERAAL-HREIDARSSON SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.320 GeneticVariation disease BEFREE Biallelic and monoallelic PARN variants are associated with Hoyeraal-Hreidarsson syndrome/dyskeratosis congenita and idiopathic pulmonary fibrosis (IPF), respectively. 31448843 2019
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.320 GeneticVariation disease BEFREE Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 26810774 2016
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		0.320 GermlineCausalMutation disease ORPHANET Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 25893599 2015