Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Autosomal dominant or sporadic congenital neutropenia HAX1 disease C0340970 Biomarker 0.6 disgenet
Autosomal dominant or sporadic congenital neutropenia HAX1 disease C0340970 GeneticVariation 0.6 disgenet
Autosomal dominant or sporadic congenital neutropenia VPS45 disease C0340970 Biomarker 0.54 disgenet
Autosomal dominant or sporadic congenital neutropenia VPS45 disease C0340970 GeneticVariation 0.54 disgenet
Autosomal dominant or sporadic congenital neutropenia ELANE disease C0340970 GeneticVariation 0.5 disgenet
Autosomal dominant or sporadic congenital neutropenia ELANE disease C0340970 AlteredExpression 0.5 disgenet
Autosomal dominant or sporadic congenital neutropenia ELANE disease C0340970 Biomarker 0.5 disgenet
Autosomal dominant or sporadic congenital neutropenia G6PC3 disease C0340970 Biomarker 0.4 disgenet
Autosomal dominant or sporadic congenital neutropenia G6PC3 disease C0340970 GeneticVariation 0.4 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF3R disease C0340970 GeneticVariation 0.4 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF3R disease C0340970 AlteredExpression 0.4 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF3R disease C0340970 Biomarker 0.4 disgenet
Autosomal dominant or sporadic congenital neutropenia GFI1 disease C0340970 Biomarker 0.37 disgenet
Autosomal dominant or sporadic congenital neutropenia GFI1 disease C0340970 GeneticVariation 0.37 disgenet
Autosomal dominant or sporadic congenital neutropenia JAGN1 disease C0340970 GeneticVariation 0.35 disgenet
Autosomal dominant or sporadic congenital neutropenia JAGN1 disease C0340970 Biomarker 0.35 disgenet
Autosomal dominant or sporadic congenital neutropenia GATA2 disease C0340970 GeneticVariation 0.33 disgenet
Autosomal dominant or sporadic congenital neutropenia GATA2 disease C0340970 Biomarker 0.33 disgenet
Autosomal dominant or sporadic congenital neutropenia WAS disease C0340970 GeneticVariation 0.32 disgenet
Autosomal dominant or sporadic congenital neutropenia LAMTOR2 disease C0340970 GeneticVariation 0.32 disgenet
Autosomal dominant or sporadic congenital neutropenia LAMTOR2 disease C0340970 Biomarker 0.32 disgenet
Autosomal dominant or sporadic congenital neutropenia WAS disease C0340970 Biomarker 0.32 disgenet
Autosomal dominant or sporadic congenital neutropenia WAS disease C0340970 AlteredExpression 0.32 disgenet
Autosomal dominant or sporadic congenital neutropenia CXCR4 disease C0340970 Biomarker 0.3 disgenet
Autosomal dominant or sporadic congenital neutropenia RMRP disease C0340970 Biomarker 0.3 disgenet
Autosomal dominant or sporadic congenital neutropenia TCIRG1 disease C0340970 CausalMutation 0.12 disgenet
Autosomal dominant or sporadic congenital neutropenia TCIRG1 disease C0340970 GeneticVariation 0.12 disgenet
Autosomal dominant or sporadic congenital neutropenia TCIRG1 disease C0340970 Biomarker 0.12 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF3 disease C0340970 GeneticVariation 0.1 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF3 disease C0340970 AlteredExpression 0.1 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF3 disease C0340970 Biomarker 0.1 disgenet
Autosomal dominant or sporadic congenital neutropenia AK2 disease C0340970 Biomarker 0.1 disgenet
Autosomal dominant or sporadic congenital neutropenia CD34 disease C0340970 Biomarker 0.06 disgenet
Autosomal dominant or sporadic congenital neutropenia LEF1 disease C0340970 AlteredExpression 0.05 disgenet
Autosomal dominant or sporadic congenital neutropenia LEF1 disease C0340970 Biomarker 0.05 disgenet
Autosomal dominant or sporadic congenital neutropenia LEF1 disease C0340970 GeneticVariation 0.05 disgenet
Autosomal dominant or sporadic congenital neutropenia G6PC disease C0340970 Biomarker 0.04 disgenet
Autosomal dominant or sporadic congenital neutropenia G6PC disease C0340970 AlteredExpression 0.04 disgenet
Autosomal dominant or sporadic congenital neutropenia G6PC disease C0340970 GeneticVariation 0.04 disgenet
Autosomal dominant or sporadic congenital neutropenia STAT5B disease C0340970 AlteredExpression 0.03 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF1R disease C0340970 GeneticVariation 0.03 disgenet
Autosomal dominant or sporadic congenital neutropenia STAT5B disease C0340970 Biomarker 0.03 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF1R disease C0340970 Biomarker 0.03 disgenet
Autosomal dominant or sporadic congenital neutropenia STAT5A disease C0340970 AlteredExpression 0.03 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF1R disease C0340970 AlteredExpression 0.03 disgenet
Autosomal dominant or sporadic congenital neutropenia STAT5A disease C0340970 Biomarker 0.03 disgenet
Autosomal dominant or sporadic congenital neutropenia AKT1 disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia CAMP disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia RPP14 disease C0340970 GeneticVariation 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia S100A9 disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia RPP14 disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia H3P8 disease C0340970 GeneticVariation 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia SF3B6 disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia S100A9 disease C0340970 GeneticVariation 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia CAMP disease C0340970 AlteredExpression 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia SRI disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia SF3B6 disease C0340970 GeneticVariation 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia CDKN2A disease C0340970 GeneticVariation 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia AKT1 disease C0340970 AlteredExpression 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia SUB1 disease C0340970 GeneticVariation 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia CDKN2A disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia RPS19 disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia H3P8 disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF2 disease C0340970 GeneticVariation 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia SUB1 disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia CSF2 disease C0340970 AlteredExpression 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia CDK2AP2 disease C0340970 GeneticVariation 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia CDK2AP2 disease C0340970 Biomarker 0.02 disgenet
Autosomal dominant or sporadic congenital neutropenia LTF disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia IL1A disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia HUWE1 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia LCN2 disease C0340970 AlteredExpression 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia HCLS1 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia RUNX1T1 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia BCL2 disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia KIT disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia KAT6A disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia CXCR2 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia RUNX1 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia IL1B disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia PTPN11 disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia SLPI disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia TP53 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia RAC2 disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia CTNNB1 disease C0340970 AlteredExpression 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia ARHGDIB disease C0340970 PosttranslationalModification 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia ATP2A2 disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia IL3 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia ARHGDIA disease C0340970 PosttranslationalModification 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia CLPB disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia SLC37A4 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia HOXB8 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia CD33 disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia CHD2 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia PTPN6 disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia CEBPB disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia NAMPT disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia DECR1 disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia NR0B2 disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia SCN1A disease C0340970 GeneticVariation 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia WNT3A disease C0340970 AlteredExpression 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia VPS13B disease C0340970 Biomarker 0.01 disgenet
Autosomal dominant or sporadic congenital neutropenia CD40LG disease C0340970 GeneticVariation 0.01 disgenet
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