SEPTIN5, septin 5, 5413

N. diseases: 29; N. variants: 4
Disease: Bernard-Soulier Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.110 Biomarker disease BEFREE Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. 21800012 2011
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.110 CausalMutation disease CLINVAR
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.110 GeneticVariation disease CLINVAR