PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
0.400 Biomarker phenotype GENOMICS_ENGLAND The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c.586C>T p.R196*. 30244542 2018
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
0.400 Biomarker phenotype HPO