Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3 		latent transforming growth factor beta binding protein 3 0.564 0.846 0.69
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome 		disease 0.810 strong 1.000 2 0 2002 2019
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3 		latent transforming growth factor beta binding protein 3 0.564 0.846 0.69
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.620 strong 1.000 1 0 2015 2017
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3 		latent transforming growth factor beta binding protein 3 0.564 0.846 0.69
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		disease 0.600 strong 1.000 1 0 2016 2016