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 		G 0.810 CausalMutation CLINVAR
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
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs606231193
rs606231193
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		CAG 0.700 CausalMutation CLINVAR
dbSNP: rs606231197
rs606231197
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C0796135
Disease:
Renpenning syndrome 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs878853145
rs878853145
Entrez Id: 7355;10084
Gene Symbol: SLC35A2;PQBP1
SLC35A2;PQBP1
CUI: C0025362
Disease:
Mental Retardation 		T 0.700 GeneticVariation CLINVAR
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: 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: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Familial sex-linked mental retardation. 13981686 1962
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: 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: 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: 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 Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). 15355434 2004
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: 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: 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: 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: 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: 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