Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Schimke immunoosseous dysplasia SMARCAL1 disease C0877024 Biomarker 1 orphanet , disgenet
Schimke immunoosseous dysplasia SMARCAL1 disease C0877024 CausalMutation 1 orphanet , disgenet
Schimke immunoosseous dysplasia SMARCAL1 disease C0877024 PosttranslationalModification 1 orphanet , disgenet
Schimke immunoosseous dysplasia SMARCAL1 disease C0877024 GeneticVariation 1 orphanet , disgenet
Schimke immunoosseous dysplasia SMARCAL1 disease C0877024 AlteredExpression 1 orphanet , disgenet
Schimke immunoosseous dysplasia SMARCA2 disease C0877024 Biomarker 0.04 disgenet
Schimke immunoosseous dysplasia SMARCA2 disease C0877024 GeneticVariation 0.04 disgenet
Schimke immunoosseous dysplasia SMARCA4 disease C0877024 GeneticVariation 0.04 disgenet
Schimke immunoosseous dysplasia SMARCA4 disease C0877024 Biomarker 0.04 disgenet
Schimke immunoosseous dysplasia ANGPTL2 disease C0877024 GeneticVariation 0.02 disgenet
Schimke immunoosseous dysplasia PTN disease C0877024 GeneticVariation 0.02 disgenet
Schimke immunoosseous dysplasia ANGPTL4 disease C0877024 GeneticVariation 0.02 disgenet
Schimke immunoosseous dysplasia ANKS4B disease C0877024 GeneticVariation 0.02 disgenet
Schimke immunoosseous dysplasia ELN disease C0877024 AlteredExpression 0.02 disgenet
Schimke immunoosseous dysplasia AKR1B10 disease C0877024 GeneticVariation 0.02 disgenet
Schimke immunoosseous dysplasia PANK2 disease C0877024 GeneticVariation 0.02 disgenet
Schimke immunoosseous dysplasia ZRANB3 disease C0877024 Biomarker 0.01 disgenet
Schimke immunoosseous dysplasia LINC02605 disease C0877024 AlteredExpression 0.01 disgenet
Schimke immunoosseous dysplasia DHDDS disease C0877024 Biomarker 0.01 disgenet
Schimke immunoosseous dysplasia IL7 disease C0877024 AlteredExpression 0.01 disgenet
Schimke immunoosseous dysplasia HEXB disease C0877024 GeneticVariation 0.01 disgenet
Schimke immunoosseous dysplasia MPL disease C0877024 Biomarker 0.01 disgenet
Schimke immunoosseous dysplasia SMARCA1 disease C0877024 GeneticVariation 0.01 disgenet
Schimke immunoosseous dysplasia NOTCH1 disease C0877024 AlteredExpression 0.01 disgenet
Schimke immunoosseous dysplasia CHPT1 disease C0877024 Biomarker 0.01 disgenet
Schimke immunoosseous dysplasia GM2A disease C0877024 GeneticVariation 0.01 disgenet
Schimke immunoosseous dysplasia IL7R disease C0877024 PosttranslationalModification 0.01 disgenet
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