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: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
0.400 Biomarker phenotype GENOMICS_ENGLAND Phenotypic and molecular insights into PQBP1-related intellectual disability. 30244542 2018
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
0.400 Biomarker phenotype HPO