Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Thrombasthenia ITGB3 disease C0040015 GeneticVariation 1 orphanet , disgenet
Thrombasthenia ITGB3 disease C0040015 Biomarker 1 orphanet , disgenet
Thrombasthenia ITGB3 disease C0040015 GermlineCausalMutation 1 orphanet , disgenet
Thrombasthenia ITGB3 disease C0040015 AlteredExpression 1 orphanet , disgenet
Thrombasthenia ITGB3 disease C0040015 CausalMutation 1 orphanet , disgenet
Thrombasthenia ITGA2B disease C0040015 GermlineCausalMutation 0.8 orphanet , disgenet
Thrombasthenia ITGA2B disease C0040015 CausalMutation 0.8 orphanet , disgenet
Thrombasthenia ITGA2B disease C0040015 Biomarker 0.8 orphanet , disgenet
Thrombasthenia ITGA2B disease C0040015 AlteredExpression 0.8 orphanet , disgenet
Thrombasthenia ITGA2B disease C0040015 GeneticVariation 0.8 orphanet , disgenet
Thrombasthenia HPSE disease C0040015 Biomarker 0.03 disgenet
Thrombasthenia HPSE disease C0040015 AlteredExpression 0.03 disgenet
Thrombasthenia HPSE disease C0040015 GeneticVariation 0.03 disgenet
Thrombasthenia MTHFR disease C0040015 GeneticVariation 0.02 disgenet
Thrombasthenia GP1BA disease C0040015 AlteredExpression 0.02 disgenet
Thrombasthenia GP1BA disease C0040015 GeneticVariation 0.02 disgenet
Thrombasthenia EEF1B2P2 disease C0040015 Biomarker 0.02 disgenet
Thrombasthenia POU2F3 disease C0040015 GeneticVariation 0.02 disgenet
Thrombasthenia BHLHE22 disease C0040015 GeneticVariation 0.02 disgenet
Thrombasthenia POU2F3 disease C0040015 Biomarker 0.02 disgenet
Thrombasthenia BHLHE22 disease C0040015 Biomarker 0.02 disgenet
Thrombasthenia EEF1B2P2 disease C0040015 GeneticVariation 0.02 disgenet
Thrombasthenia CD63 disease C0040015 AlteredExpression 0.01 disgenet
Thrombasthenia LGALS8 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia ITGA2 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia PLA2G1B disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia KCNMB3 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia TLN1 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia PLA2G6 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia ITGAV disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia FERMT3 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia HPSE2 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia LAMP1 disease C0040015 AlteredExpression 0.01 disgenet
Thrombasthenia VTN disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia HLA-A disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia THRA disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia VWF disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia NAGLU disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia ACTB disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia CD34 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia TUBB1 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia GH1 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia GOLPH3 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia GP6 disease C0040015 AlteredExpression 0.01 disgenet
Thrombasthenia CD40LG disease C0040015 AlteredExpression 0.01 disgenet
Thrombasthenia F10 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia DLD disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia KCNMB2 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia ITGB2 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia TBX1 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia NAAA disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia PLA2G2A disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia FCGR2A disease C0040015 AlteredExpression 0.01 disgenet
Thrombasthenia BRCA1 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia NR1D1 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia CGA disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia F5 disease C0040015 GeneticVariation 0.01 disgenet
Thrombasthenia FN1 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia LAD1 disease C0040015 Biomarker 0.01 disgenet
Thrombasthenia LGALS1 disease C0040015 AlteredExpression 0.01 disgenet
Thrombasthenia SELP disease C0040015 AlteredExpression 0.01 disgenet
Thrombasthenia PRB2 disease C0040015 GeneticVariation 0.01 disgenet
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