Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hereditary Spherocytoses SPTB disease C0037889 GeneticVariation 0.68 orphanet , disgenet
Hereditary Spherocytoses SPTB disease C0037889 GermlineCausalMutation 0.68 orphanet , disgenet
Hereditary Spherocytoses SPTB disease C0037889 CausalMutation 0.68 orphanet , disgenet
Hereditary Spherocytoses SPTB disease C0037889 Biomarker 0.68 orphanet , disgenet
Hereditary Spherocytoses SLC4A1 disease C0037889 GeneticVariation 0.6 orphanet , disgenet
Hereditary Spherocytoses SLC4A1 disease C0037889 GermlineCausalMutation 0.6 orphanet , disgenet
Hereditary Spherocytoses SLC4A1 disease C0037889 Biomarker 0.6 orphanet , disgenet
Hereditary Spherocytoses ANK1 disease C0037889 AlteredExpression 0.4 orphanet , disgenet
Hereditary Spherocytoses ANK1 disease C0037889 GeneticVariation 0.4 orphanet , disgenet
Hereditary Spherocytoses ANK1 disease C0037889 Biomarker 0.4 orphanet , disgenet
Hereditary Spherocytoses ANK1 disease C0037889 GermlineCausalMutation 0.4 orphanet , disgenet
Hereditary Spherocytoses EPB42 disease C0037889 Biomarker 0.33 orphanet , disgenet
Hereditary Spherocytoses EPB42 disease C0037889 GermlineCausalMutation 0.33 orphanet , disgenet
Hereditary Spherocytoses EPB42 disease C0037889 GeneticVariation 0.33 orphanet , disgenet
Hereditary Spherocytoses SPTA1 disease C0037889 GermlineCausalMutation 0.32 orphanet , disgenet
Hereditary Spherocytoses SPTA1 disease C0037889 Biomarker 0.32 orphanet , disgenet
Hereditary Spherocytoses SPTA1 disease C0037889 GeneticVariation 0.32 orphanet , disgenet
Hereditary Spherocytoses CAD disease C0037889 Biomarker 0.3 disgenet
Hereditary Spherocytoses UMPS disease C0037889 Biomarker 0.3 disgenet
Hereditary Spherocytoses DHODH disease C0037889 Biomarker 0.3 disgenet
Hereditary Spherocytoses KLF1 disease C0037889 Biomarker 0.21 disgenet
Hereditary Spherocytoses KLF1 disease C0037889 GeneticVariation 0.21 disgenet
Hereditary Spherocytoses G6PD disease C0037889 Biomarker 0.06 disgenet
Hereditary Spherocytoses G6PD disease C0037889 GeneticVariation 0.06 disgenet
Hereditary Spherocytoses UGT1A1 disease C0037889 AlteredExpression 0.05 disgenet
Hereditary Spherocytoses UGT1A1 disease C0037889 GeneticVariation 0.05 disgenet
Hereditary Spherocytoses ACTB disease C0037889 GeneticVariation 0.05 disgenet
Hereditary Spherocytoses ACTB disease C0037889 Biomarker 0.05 disgenet
Hereditary Spherocytoses UGT1A1 disease C0037889 Biomarker 0.05 disgenet
Hereditary Spherocytoses RN7SL263P disease C0037889 GeneticVariation 0.04 disgenet
Hereditary Spherocytoses HFE disease C0037889 GeneticVariation 0.04 disgenet
Hereditary Spherocytoses RN7SL263P disease C0037889 Biomarker 0.04 disgenet
Hereditary Spherocytoses UGT1A7 disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses GYPB disease C0037889 Biomarker 0.02 disgenet
Hereditary Spherocytoses UGT1A6 disease C0037889 Biomarker 0.02 disgenet
Hereditary Spherocytoses TBP disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses UGT1A6 disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses HK1 disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses GYPA disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses UGT1A8 disease C0037889 Biomarker 0.02 disgenet
Hereditary Spherocytoses UGT1A10 disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses TBP disease C0037889 AlteredExpression 0.02 disgenet
Hereditary Spherocytoses UGT1A4 disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses UGT1A7 disease C0037889 Biomarker 0.02 disgenet
Hereditary Spherocytoses UGT1A10 disease C0037889 Biomarker 0.02 disgenet
Hereditary Spherocytoses UGT1A4 disease C0037889 Biomarker 0.02 disgenet
Hereditary Spherocytoses UGT1A8 disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses CD47 disease C0037889 Biomarker 0.02 disgenet
Hereditary Spherocytoses GYPB disease C0037889 GeneticVariation 0.02 disgenet
Hereditary Spherocytoses GYPE disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses SLC26A8 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses GAPDH disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses FOLH1 disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses TNF disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses EMC10 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses ABCB11 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses DHFR disease C0037889 AlteredExpression 0.01 disgenet
Hereditary Spherocytoses GSR disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses PGK1 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses SLC26A6 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses CASR disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses BCAM disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses ST8SIA4 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses CD44 disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses SPRR2A disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses RPS19 disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses AQP1 disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses FGFR1 disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses MPP1 disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses JAK2 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses CD55 disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses GOLM1 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses MINDY4 disease C0037889 AlteredExpression 0.01 disgenet
Hereditary Spherocytoses DMTN disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses SLC26A7 disease C0037889 GeneticVariation 0.01 disgenet
Hereditary Spherocytoses APC disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses EMSLR disease C0037889 Biomarker 0.01 disgenet
Hereditary Spherocytoses PRDX2 disease C0037889 AlteredExpression 0.01 disgenet
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