PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201765587
rs201765587
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		C 0.700 CausalMutation 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