GP9, glycoprotein IX platelet, 2815

N. diseases: 46; N. variants: 9
Disease: Bernard-Soulier Syndrome, Type C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856448
Disease: Bernard-Soulier Syndrome, Type C
Bernard-Soulier Syndrome, Type C 		0.410 GeneticVariation disease BEFREE Variants in human GP9 are associated with Bernard-Soulier syndrome, type C. The deletion spanned 2460 bp, and included a significant part of the single coding exon of the canine GP9 gene on dog chromosome 20. 31484196 2019
CUI: C1856448
Disease: Bernard-Soulier Syndrome, Type C
Bernard-Soulier Syndrome, Type C 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C1856448
Disease: Bernard-Soulier Syndrome, Type C
Bernard-Soulier Syndrome, Type C 		0.410 CausalMutation disease CLINVAR