PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 20950397 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Renpenning syndrome comes into focus. 15782410 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). 15355434 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Familial sex-linked mental retardation. 13981686 1962