PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
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
dbSNP: rs606231196
rs606231196
Entrez Id: 7355;10084
Gene Symbol: SLC35A2;PQBP1
SLC35A2;PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1
GC 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1557041672
rs1557041672
Entrez Id: 7355;10084
Gene Symbol: SLC35A2;PQBP1
SLC35A2;PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1
T 0.700 CausalMutation CLINVAR The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 20950397 2011
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 20950397 2011
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1
C 0.700 CausalMutation CLINVAR A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 17033686 2007
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR Renpenning syndrome comes into focus. 15782410 2005
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1
C 0.700 CausalMutation CLINVAR Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. 15024694 2004
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). 15355434 2004
dbSNP: rs606231196
rs606231196
Entrez Id: 7355;10084
Gene Symbol: SLC35A2;PQBP1
SLC35A2;PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1
GC 0.700 CausalMutation CLINVAR Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. 15024694 2004
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2003
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1
C 0.700 CausalMutation CLINVAR Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2003
dbSNP: rs606231196
rs606231196
Entrez Id: 7355;10084
Gene Symbol: SLC35A2;PQBP1
SLC35A2;PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1
GC 0.700 CausalMutation CLINVAR Renpenning syndrome maps to Xp11. 9545405 1998
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1
C 0.700 CausalMutation CLINVAR Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. 7943045 1994
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR Familial sex-linked mental retardation. 13981686 1962
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C1843367
Disease:
Poor school performance
C 0.700 GeneticVariation CLINVAR
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0424295
Disease:
Hyperactive behavior
C 0.700 CausalMutation CLINVAR
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0454644
Disease:
Delayed speech and language development
C 0.700 CausalMutation CLINVAR