Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Jarcho-Levin syndrome DLL3 disease C0265343 Biomarker 0.87 disgenet
Jarcho-Levin syndrome DLL3 disease C0265343 GeneticVariation 0.87 disgenet
Jarcho-Levin syndrome DLL3 disease C0265343 CausalMutation 0.87 disgenet
Jarcho-Levin syndrome TBX6 disease C0265343 Biomarker 0.52 orphanet , disgenet
Jarcho-Levin syndrome TBX6 disease C0265343 GeneticVariation 0.52 orphanet , disgenet
Jarcho-Levin syndrome RIPPLY2 disease C0265343 GermlineCausalMutation 0.51 disgenet
Jarcho-Levin syndrome RIPPLY2 disease C0265343 Biomarker 0.51 disgenet
Jarcho-Levin syndrome HES7 disease C0265343 Biomarker 0.44 disgenet
Jarcho-Levin syndrome HES7 disease C0265343 CausalMutation 0.44 disgenet
Jarcho-Levin syndrome HES7 disease C0265343 GeneticVariation 0.44 disgenet
Jarcho-Levin syndrome MESP2 disease C0265343 Biomarker 0.43 disgenet
Jarcho-Levin syndrome MESP2 disease C0265343 CausalMutation 0.43 disgenet
Jarcho-Levin syndrome MESP2 disease C0265343 GeneticVariation 0.43 disgenet
Jarcho-Levin syndrome LFNG disease C0265343 CausalMutation 0.42 disgenet
Jarcho-Levin syndrome LFNG disease C0265343 GeneticVariation 0.42 disgenet
Jarcho-Levin syndrome LFNG disease C0265343 Biomarker 0.42 disgenet
Jarcho-Levin syndrome PAX1 disease C0265343 AlteredExpression 0.02 disgenet
Jarcho-Levin syndrome PAX1 disease C0265343 GeneticVariation 0.02 disgenet
Jarcho-Levin syndrome GDF6 disease C0265343 GeneticVariation 0.01 disgenet
Jarcho-Levin syndrome SLC35A3 disease C0265343 Biomarker 0.01 disgenet
Jarcho-Levin syndrome PAX9 disease C0265343 AlteredExpression 0.01 disgenet
Jarcho-Levin syndrome SOX9 disease C0265343 Biomarker 0.01 disgenet
Jarcho-Levin syndrome ROR2 disease C0265343 GeneticVariation 0.01 disgenet
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