Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.420 GeneticVariation disease BEFREE Patients with HPS-1, HPS-2, and HPS-4 tend to develop pulmonary fibrosis in Puerto Rico; 100% of patients with HPS-1 develop HPS-PF. 27529121 2016
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.420 Biomarker disease BEFREE These data show that children and young adults with HPS-2 and functional defects of the AP-3 complex are at risk for ILD and pulmonary fibrosis. 22009278 2012
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.420 Biomarker disease GENOMICS_ENGLAND Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 10024875 1999
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.420 Biomarker disease HPO