Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Sacral agenesis VANGL1 disease C0344490 SusceptibilityMutation 0.7 disgenet
Sacral agenesis VANGL1 disease C0344490 Biomarker 0.7 disgenet
Sacral agenesis FUZ disease C0344490 GermlineCausalMutation 0.6 disgenet
Sacral agenesis FUZ disease C0344490 Biomarker 0.6 disgenet
Sacral agenesis VANGL2 disease C0344490 Biomarker 0.4 disgenet
Sacral agenesis ZIC3 disease C0344490 Biomarker 0.4 disgenet
Sacral agenesis TBXT disease C0344490 Biomarker 0.4 disgenet
Sacral agenesis PCSK5 disease C0344490 Biomarker 0.3 disgenet
Sacral agenesis GDF6 disease C0344490 Biomarker 0.3 disgenet
Sacral agenesis RYR1 disease C0344490 GeneticVariation 0.1 disgenet
Sacral agenesis HAAO disease C0344490 Biomarker 0.1 disgenet
Sacral agenesis FANCB disease C0344490 Biomarker 0.1 disgenet
Sacral agenesis PTH1R disease C0344490 Biomarker 0.1 disgenet
Sacral agenesis CCL2 disease C0344490 Biomarker 0.1 disgenet
Sacral agenesis MNX1 disease C0344490 Biomarker 0.04 disgenet
Sacral agenesis MNX1 disease C0344490 GeneticVariation 0.04 disgenet
Sacral agenesis TBX1 disease C0344490 GeneticVariation 0.01 disgenet
Sacral agenesis SHH disease C0344490 Biomarker 0.01 disgenet
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