PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1760940
rs1760940
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C1629609
Disease:
Age at menopause 		0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1760940
rs1760940
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C1629609
Disease:
Age at menopause 		0.800 GeneticVariation GWASDB Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 22267201 2012
dbSNP: rs104894451
rs104894451
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		C 0.800 CausalMutation CLINVAR Purine nucleoside phosphorylase deficiency: a mutation update. 22132981 2011
dbSNP: rs104894451
rs104894451
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		C 0.800 CausalMutation CLINVAR Mutations in purine nucleoside phosphorylase deficiency. 9067751 1997
dbSNP: rs104894450
rs104894450
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. 8931706 1996
dbSNP: rs104894451
rs104894451
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. 8931706 1996
dbSNP: rs104894452
rs104894452
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. 8931706 1996
dbSNP: rs104894453
rs104894453
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. 8931706 1996
dbSNP: rs104894454
rs104894454
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. 8931706 1996
dbSNP: rs104894450
rs104894450
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
dbSNP: rs104894451
rs104894451
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		C 0.800 CausalMutation CLINVAR Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
dbSNP: rs104894451
rs104894451
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
dbSNP: rs104894451
rs104894451
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		C 0.800 GeneticVariation CLINVAR Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
dbSNP: rs104894452
rs104894452
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
dbSNP: rs104894453
rs104894453
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
dbSNP: rs104894454
rs104894454
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. 1384322 1992
dbSNP: rs104894450
rs104894450
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT A human purine nucleoside phosphorylase deficiency caused by a single base change. 3029074 1987
dbSNP: rs104894451
rs104894451
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT A human purine nucleoside phosphorylase deficiency caused by a single base change. 3029074 1987
dbSNP: rs104894452
rs104894452
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT A human purine nucleoside phosphorylase deficiency caused by a single base change. 3029074 1987
dbSNP: rs104894453
rs104894453
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT A human purine nucleoside phosphorylase deficiency caused by a single base change. 3029074 1987
dbSNP: rs104894454
rs104894454
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		0.800 GeneticVariation UNIPROT A human purine nucleoside phosphorylase deficiency caused by a single base change. 3029074 1987
dbSNP: rs104894450
rs104894450
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894452
rs104894452
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894453
rs104894453
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894454
rs104894454
Entrez Id: 4860
Gene Symbol: PNP
PNP
CUI: C0268125
Disease:
Purine-nucleoside phosphorylase deficiency 		C 0.800 CausalMutation CLINVAR