Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Shwachman syndrome SBDS disease C0272170 CausalMutation 1 orphanet , disgenet
Shwachman syndrome SBDS disease C0272170 Biomarker 1 orphanet , disgenet
Shwachman syndrome SBDS disease C0272170 AlteredExpression 1 orphanet , disgenet
Shwachman syndrome SBDS disease C0272170 GeneticVariation 1 orphanet , disgenet
Shwachman syndrome DNAJC21 disease C0272170 GermlineCausalMutation 0.52 orphanet , disgenet
Shwachman syndrome DNAJC21 disease C0272170 GeneticVariation 0.52 orphanet , disgenet
Shwachman syndrome DNAJC21 disease C0272170 Biomarker 0.52 orphanet , disgenet
Shwachman syndrome SRP54 disease C0272170 GermlineCausalMutation 0.51 orphanet , disgenet
Shwachman syndrome SRP54 disease C0272170 Biomarker 0.51 orphanet , disgenet
Shwachman syndrome EFL1 disease C0272170 GeneticVariation 0.39 orphanet , disgenet
Shwachman syndrome EFL1 disease C0272170 AlteredExpression 0.39 orphanet , disgenet
Shwachman syndrome EFL1 disease C0272170 Biomarker 0.39 orphanet , disgenet
Shwachman syndrome EFL1 disease C0272170 GermlineCausalMutation 0.39 orphanet , disgenet
Shwachman syndrome SERPINI2 disease C0272170 Biomarker 0.2 disgenet
Shwachman syndrome RPS19 disease C0272170 Biomarker 0.1 disgenet
Shwachman syndrome TYW1 disease C0272170 CausalMutation 0.1 disgenet
Shwachman syndrome RPS19 disease C0272170 GeneticVariation 0.1 disgenet
Shwachman syndrome EIF6 disease C0272170 Biomarker 0.08 disgenet
Shwachman syndrome EIF6 disease C0272170 GeneticVariation 0.08 disgenet
Shwachman syndrome TP53 disease C0272170 GeneticVariation 0.03 disgenet
Shwachman syndrome TP53 disease C0272170 Biomarker 0.03 disgenet
Shwachman syndrome SMAD2 disease C0272170 Biomarker 0.02 disgenet
Shwachman syndrome CSF3 disease C0272170 Biomarker 0.02 disgenet
Shwachman syndrome ACTB disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome MYC disease C0272170 AlteredExpression 0.01 disgenet
Shwachman syndrome SDS disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome PAFAH1B1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome SF3B1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome TST disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome RPA1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome RMRP disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome SOD2 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome L3MBTL1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome LYZ disease C0272170 GeneticVariation 0.01 disgenet
Shwachman syndrome PRPH2 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome TAL1 disease C0272170 AlteredExpression 0.01 disgenet
Shwachman syndrome ARHGEF12 disease C0272170 AlteredExpression 0.01 disgenet
Shwachman syndrome CLLS2 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome GDF9 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome FHIT disease C0272170 GeneticVariation 0.01 disgenet
Shwachman syndrome CYBB disease C0272170 AlteredExpression 0.01 disgenet
Shwachman syndrome YWHAE disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome ASXL1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome TET2 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome CFTR disease C0272170 GeneticVariation 0.01 disgenet
Shwachman syndrome IKZF1 disease C0272170 GeneticVariation 0.01 disgenet
Shwachman syndrome ATM disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome TGFB1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome PTEN disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome RUNX1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome ALB disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome TGFB3 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome CYP2E1 disease C0272170 AlteredExpression 0.01 disgenet
Shwachman syndrome RPL4 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome SBDSP1 disease C0272170 GeneticVariation 0.01 disgenet
Shwachman syndrome TPST1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome TPP1 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome SLC6A3 disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome FRA7G disease C0272170 Biomarker 0.01 disgenet
Shwachman syndrome CEBPB disease C0272170 AlteredExpression 0.01 disgenet
Shwachman syndrome CEBPA disease C0272170 AlteredExpression 0.01 disgenet
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