PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
Disease: Renpenning syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917899
rs121917899
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		0.810 GeneticVariation UNIPROT PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1. 26046437 2015
dbSNP: rs121917899
rs121917899
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		0.810 GeneticVariation UNIPROT PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth. 23512658 2013
dbSNP: rs121917899
rs121917899
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		0.810 GeneticVariation UNIPROT A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. 21315190 2011
dbSNP: rs121917899
rs121917899
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		0.810 GeneticVariation BEFREE Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. 20410308 2010
dbSNP: rs121917899
rs121917899
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		0.810 GeneticVariation UNIPROT Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. 20410308 2010
dbSNP: rs121917899
rs121917899
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		0.810 GeneticVariation UNIPROT Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
dbSNP: rs121917899
rs121917899
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		0.810 GeneticVariation UNIPROT Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2003
dbSNP: rs121917899
rs121917899
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		G 0.810 CausalMutation CLINVAR