Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cyclic neutropenia ELANE disease C0221023 Biomarker 0.8 orphanet , disgenet
Cyclic neutropenia ELANE disease C0221023 GeneticVariation 0.8 orphanet , disgenet
Cyclic neutropenia ELANE disease C0221023 AlteredExpression 0.8 orphanet , disgenet
Cyclic neutropenia ELANE disease C0221023 CausalMutation 0.8 orphanet , disgenet
Cyclic neutropenia ELANE disease C0221023 GermlineCausalMutation 0.8 orphanet , disgenet
Cyclic neutropenia CSF3 disease C0221023 Biomarker 0.05 disgenet
Cyclic neutropenia CSF3R disease C0221023 AlteredExpression 0.03 disgenet
Cyclic neutropenia CSF3R disease C0221023 GeneticVariation 0.03 disgenet
Cyclic neutropenia CSF3R disease C0221023 Biomarker 0.03 disgenet
Cyclic neutropenia SHH disease C0221023 Biomarker 0.03 disgenet
Cyclic neutropenia UGT1A1 disease C0221023 GeneticVariation 0.03 disgenet
Cyclic neutropenia CD34 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia G6PC3 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia IL1R1 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia DUOX2 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia NT5C1A disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia AURKA disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia PRKAA1 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia MIR122 disease C0221023 AlteredExpression 0.01 disgenet
Cyclic neutropenia COIL disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia POMC disease C0221023 AlteredExpression 0.01 disgenet
Cyclic neutropenia CCND1 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia NPM1 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia LHX4 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia LRRC4C disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia KEAP1 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia C4B disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia EEA1 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia CORT disease C0221023 AlteredExpression 0.01 disgenet
Cyclic neutropenia PGR disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia PRKAB1 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia PAX6 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia LEF1 disease C0221023 AlteredExpression 0.01 disgenet
Cyclic neutropenia UGT1A disease C0221023 AlteredExpression 0.01 disgenet
Cyclic neutropenia PPARG disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia PNP disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia PRPF31 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia NFE2L2 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia CASP3 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia HTR1B disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia C4A disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia PTGS2 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia KRAS disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia TNF disease C0221023 AlteredExpression 0.01 disgenet
Cyclic neutropenia FLT3 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia LIMK2 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia MAPK8 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia ALB disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia PRKAA2 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia HOXB8 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia CNDP1 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia SLC35A2 disease C0221023 AlteredExpression 0.01 disgenet
Cyclic neutropenia C4B_2 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia AGTR1 disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia MPZ disease C0221023 AlteredExpression 0.01 disgenet
Cyclic neutropenia ADA disease C0221023 GeneticVariation 0.01 disgenet
Cyclic neutropenia WDR48 disease C0221023 Biomarker 0.01 disgenet
Cyclic neutropenia CALR disease C0221023 GeneticVariation 0.01 disgenet
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