Gene: AP3B1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		0.320 Biomarker group BEFREE HPS-2 is characterized by a rapidly fibrosing lung disease during early childhood.Effective treatments are required. 29580292 2018
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		0.320 GeneticVariation group BEFREE To define lung disease in HPS-2, one child and two adults with HPS-2 were evaluated at the National Institutes of Health on at least two visits, and another child was evaluated at the University of Texas Health Science Center San Antonio. 22009278 2012
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		0.320 Biomarker group 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