Disease Information | ||||||
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Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Bernard Soulier Syndrome | GP1BB | disease | C0005129 | GeneticVariation | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP1BB | disease | C0005129 | GermlineCausalMutation | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP1BA | disease | C0005129 | CausalMutation | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP1BA | disease | C0005129 | AlteredExpression | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP1BB | disease | C0005129 | CausalMutation | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP1BA | disease | C0005129 | Biomarker | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP1BA | disease | C0005129 | GermlineCausalMutation | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP1BA | disease | C0005129 | GeneticVariation | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP1BB | disease | C0005129 | Biomarker | 1 | orphanet , disgenet |
Bernard Soulier Syndrome | GP9 | disease | C0005129 | GeneticVariation | 0.8 | orphanet , disgenet |
Bernard Soulier Syndrome | GP9 | disease | C0005129 | Biomarker | 0.8 | orphanet , disgenet |
Bernard Soulier Syndrome | GP9 | disease | C0005129 | AlteredExpression | 0.8 | orphanet , disgenet |
Bernard Soulier Syndrome | GP9 | disease | C0005129 | CausalMutation | 0.8 | orphanet , disgenet |
Bernard Soulier Syndrome | GP9 | disease | C0005129 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
Bernard Soulier Syndrome | SEPTIN5 | disease | C0005129 | GeneticVariation | 0.11 | disgenet |
Bernard Soulier Syndrome | SEPTIN5 | disease | C0005129 | CausalMutation | 0.11 | disgenet |
Bernard Soulier Syndrome | SEPTIN5 | disease | C0005129 | Biomarker | 0.11 | disgenet |
Bernard Soulier Syndrome | VWF | disease | C0005129 | GeneticVariation | 0.1 | disgenet |
Bernard Soulier Syndrome | PRB2 | disease | C0005129 | GeneticVariation | 0.1 | disgenet |
Bernard Soulier Syndrome | CHRNE | disease | C0005129 | CausalMutation | 0.1 | disgenet |
Bernard Soulier Syndrome | PRB2 | disease | C0005129 | AlteredExpression | 0.1 | disgenet |
Bernard Soulier Syndrome | PRB2 | disease | C0005129 | Biomarker | 0.1 | disgenet |
Bernard Soulier Syndrome | VWF | disease | C0005129 | Biomarker | 0.1 | disgenet |
Bernard Soulier Syndrome | GP5 | disease | C0005129 | GeneticVariation | 0.07 | disgenet |
Bernard Soulier Syndrome | GP5 | disease | C0005129 | Biomarker | 0.07 | disgenet |
Bernard Soulier Syndrome | SEPT5-GP1BB | disease | C0005129 | GeneticVariation | 0.05 | disgenet |
Bernard Soulier Syndrome | ITGA2B | disease | C0005129 | GeneticVariation | 0.04 | disgenet |
Bernard Soulier Syndrome | ITGA2B | disease | C0005129 | AlteredExpression | 0.04 | disgenet |
Bernard Soulier Syndrome | ITGA2B | disease | C0005129 | Biomarker | 0.04 | disgenet |
Bernard Soulier Syndrome | MYH9 | disease | C0005129 | GeneticVariation | 0.03 | disgenet |
Bernard Soulier Syndrome | CARD14 | disease | C0005129 | Biomarker | 0.03 | disgenet |
Bernard Soulier Syndrome | C4BPA | disease | C0005129 | Biomarker | 0.03 | disgenet |
Bernard Soulier Syndrome | CARD14 | disease | C0005129 | GeneticVariation | 0.03 | disgenet |
Bernard Soulier Syndrome | PRNP | disease | C0005129 | Biomarker | 0.03 | disgenet |
Bernard Soulier Syndrome | C4BPA | disease | C0005129 | GeneticVariation | 0.03 | disgenet |
Bernard Soulier Syndrome | MYH9 | disease | C0005129 | Biomarker | 0.03 | disgenet |
Bernard Soulier Syndrome | PRNP | disease | C0005129 | GeneticVariation | 0.03 | disgenet |
Bernard Soulier Syndrome | FGFR2 | disease | C0005129 | GeneticVariation | 0.03 | disgenet |
Bernard Soulier Syndrome | PRDX2 | disease | C0005129 | Biomarker | 0.03 | disgenet |
Bernard Soulier Syndrome | PRDX2 | disease | C0005129 | GeneticVariation | 0.03 | disgenet |
Bernard Soulier Syndrome | ABCB6 | disease | C0005129 | Biomarker | 0.03 | disgenet |
Bernard Soulier Syndrome | ABCB6 | disease | C0005129 | GeneticVariation | 0.03 | disgenet |
Bernard Soulier Syndrome | NLRP3 | disease | C0005129 | AlteredExpression | 0.02 | disgenet |
Bernard Soulier Syndrome | FN1 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | MAPK14 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | RNF19A | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | RYR1 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | F2 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | MAPK1 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | TPO | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | ITGB1 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | AIMP2 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | PF4 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | IL4R | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | CASP1 | disease | C0005129 | AlteredExpression | 0.01 | disgenet |
Bernard Soulier Syndrome | ITGB3 | disease | C0005129 | GeneticVariation | 0.01 | disgenet |
Bernard Soulier Syndrome | ADIPOQ | disease | C0005129 | GeneticVariation | 0.01 | disgenet |
Bernard Soulier Syndrome | POLDIP2 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | XYLT1 | disease | C0005129 | GeneticVariation | 0.01 | disgenet |
Bernard Soulier Syndrome | TRAP | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | QRSL1 | disease | C0005129 | GeneticVariation | 0.01 | disgenet |
Bernard Soulier Syndrome | LGALS8 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | ITGA2 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | IL1B | disease | C0005129 | AlteredExpression | 0.01 | disgenet |
Bernard Soulier Syndrome | GRAP2 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | F11 | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | THPO | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | C3 | disease | C0005129 | AlteredExpression | 0.01 | disgenet |
Bernard Soulier Syndrome | CRK | disease | C0005129 | Biomarker | 0.01 | disgenet |
Bernard Soulier Syndrome | FBLN1 | disease | C0005129 | GeneticVariation | 0.01 | disgenet |
Bernard Soulier Syndrome | AHSA1 | disease | C0005129 | Biomarker | 0.01 | disgenet |
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