PABPN1, poly(A) binding protein nuclear 1, 8106

N. diseases: 48; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894466
rs104894466
Entrez Id: 8106;100529063
Gene Symbol: PABPN1;BCL2L2-PABPN1
PABPN1;BCL2L2-PABPN1
CUI: C0270952
Disease:
Muscular Dystrophy, Oculopharyngeal 		0.710 GeneticVariation BEFREE Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation. 21742497 2011
dbSNP: rs104894466
rs104894466
Entrez Id: 8106;100529063
Gene Symbol: PABPN1;BCL2L2-PABPN1
PABPN1;BCL2L2-PABPN1
CUI: C0270952
Disease:
Muscular Dystrophy, Oculopharyngeal 		C 0.710 CausalMutation CLINVAR
dbSNP: rs45528934
rs45528934
Entrez Id: 8106;100529063
Gene Symbol: PABPN1;BCL2L2-PABPN1
PABPN1;BCL2L2-PABPN1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs193922941
rs193922941
Entrez Id: 8106;100529063
Gene Symbol: PABPN1;BCL2L2-PABPN1
PABPN1;BCL2L2-PABPN1
CUI: C0030554
Disease:
Paresthesia 		TGGCGGCGGCGGC 0.700 GeneticVariation CLINVAR
dbSNP: rs193922941
rs193922941
Entrez Id: 8106;100529063
Gene Symbol: PABPN1;BCL2L2-PABPN1
PABPN1;BCL2L2-PABPN1
CUI: C0270952
Disease:
Muscular Dystrophy, Oculopharyngeal 		TGGCGGCGGCGGC 0.700 GeneticVariation CLINVAR
dbSNP: rs193922941
rs193922941
Entrez Id: 8106;100529063
Gene Symbol: PABPN1;BCL2L2-PABPN1
PABPN1;BCL2L2-PABPN1
CUI: C0270952
Disease:
Muscular Dystrophy, Oculopharyngeal 		TGGCGGCGGCGGC 0.700 CausalMutation CLINVAR