PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
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: rs786200999
rs786200999
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.800 GeneticVariation UNIPROT Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 25893599 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
dbSNP: rs786200999
rs786200999
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		A 0.800 CausalMutation CLINVAR
dbSNP: rs182059586
rs182059586
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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
dbSNP: rs112210983
rs112210983
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1555512179
rs1555512179
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		T 0.700 CausalMutation CLINVAR
dbSNP: rs751381953
rs751381953
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225347
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs754368658
rs754368658
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs756132866
rs756132866
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs756132866
rs756132866
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C0265965
Disease:
Dyskeratosis Congenita 		A 0.700 CausalMutation CLINVAR
dbSNP: rs759131762
rs759131762
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786200999
rs786200999
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C0265965
Disease:
Dyskeratosis Congenita 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786201001
rs786201001
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs876661305
rs876661305
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225347
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878853260
rs878853260
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225347
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs878853260
rs878853260
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs942538351
rs942538351
Entrez Id: 5073
Gene Symbol: PARN
PARN
CUI: C4225356
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		TA 0.700 CausalMutation CLINVAR