Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
0.310 GeneticVariation disease BEFREE Our findings expand the molecular spectrum associated with BBS5 mutations in Pakistan and provide further supportive evidence that the INPP5E mutation is a common cause of ciliopathy in Northern Pakistan, likely representing a regional founder mutation. 31173343 2019
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
0.310 Biomarker disease GENOMICS_ENGLAND