Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Jacobsen Distal 11q Deletion Syndrome FLI1 disease C0795841 GeneticVariation 0.5 orphanet , disgenet
Jacobsen Distal 11q Deletion Syndrome FLI1 disease C0795841 AlteredExpression 0.5 orphanet , disgenet
Jacobsen Distal 11q Deletion Syndrome FLI1 disease C0795841 ChromosomalRearrangement 0.5 orphanet , disgenet
Jacobsen Distal 11q Deletion Syndrome FLI1 disease C0795841 Biomarker 0.5 orphanet , disgenet
Jacobsen Distal 11q Deletion Syndrome ETS1 disease C0795841 GeneticVariation 0.16 disgenet
Jacobsen Distal 11q Deletion Syndrome ETS1 disease C0795841 Biomarker 0.16 disgenet
Jacobsen Distal 11q Deletion Syndrome ETS1 disease C0795841 CausalMutation 0.16 disgenet
Jacobsen Distal 11q Deletion Syndrome CBL disease C0795841 Biomarker 0.06 disgenet
Jacobsen Distal 11q Deletion Syndrome CBL disease C0795841 GeneticVariation 0.06 disgenet
Jacobsen Distal 11q Deletion Syndrome KIRREL3 disease C0795841 GeneticVariation 0.03 disgenet
Jacobsen Distal 11q Deletion Syndrome KIRREL3 disease C0795841 Biomarker 0.03 disgenet
Jacobsen Distal 11q Deletion Syndrome UBR1 disease C0795841 GeneticVariation 0.02 disgenet
Jacobsen Distal 11q Deletion Syndrome UBR1 disease C0795841 Biomarker 0.02 disgenet
Jacobsen Distal 11q Deletion Syndrome FRAXE disease C0795841 Biomarker 0.02 disgenet
Jacobsen Distal 11q Deletion Syndrome FLII disease C0795841 Biomarker 0.02 disgenet
Jacobsen Distal 11q Deletion Syndrome FRAXE disease C0795841 GeneticVariation 0.02 disgenet
Jacobsen Distal 11q Deletion Syndrome JAM3 disease C0795841 GeneticVariation 0.02 disgenet
Jacobsen Distal 11q Deletion Syndrome FLII disease C0795841 GeneticVariation 0.02 disgenet
Jacobsen Distal 11q Deletion Syndrome BARX2 disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome CCND1 disease C0795841 GeneticVariation 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome BSX disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome MYH10 disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome TMEM67 disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome JBS disease C0795841 GeneticVariation 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome NRGN disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome NTM disease C0795841 GeneticVariation 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome PACC1 disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome NDP disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome TECTA disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome RPGRIP1L disease C0795841 GeneticVariation 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome FRAXA disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome AHI1 disease C0795841 GeneticVariation 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome MYCN disease C0795841 GeneticVariation 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome CTBP2 disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome IGF1 disease C0795841 Biomarker 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome NPHP1 disease C0795841 GeneticVariation 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome CC2D2A disease C0795841 GeneticVariation 0.01 disgenet
Jacobsen Distal 11q Deletion Syndrome FZD4 disease C0795841 Biomarker 0.01 disgenet
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