Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Acrocallosal Syndrome KIF7 disease C0796147 Biomarker 0.98 orphanet , disgenet
Acrocallosal Syndrome KIF7 disease C0796147 GermlineCausalMutation 0.98 orphanet , disgenet
Acrocallosal Syndrome KIF7 disease C0796147 GeneticVariation 0.98 orphanet , disgenet
Acrocallosal Syndrome KIF7 disease C0796147 CausalMutation 0.98 orphanet , disgenet
Acrocallosal Syndrome GLI3 disease C0796147 GermlineCausalMutation 0.35 orphanet , disgenet
Acrocallosal Syndrome GLI3 disease C0796147 GeneticVariation 0.35 orphanet , disgenet
Acrocallosal Syndrome GLI3 disease C0796147 Biomarker 0.35 orphanet , disgenet
Acrocallosal Syndrome SUFU disease C0796147 GermlineCausalMutation 0.3 disgenet
Acrocallosal Syndrome FOXG1 disease C0796147 Biomarker 0.3 disgenet
Acrocallosal Syndrome TICRR disease C0796147 GeneticVariation 0.1 disgenet
Acrocallosal Syndrome TICRR disease C0796147 CausalMutation 0.1 disgenet
Acrocallosal Syndrome L1CAM disease C0796147 GeneticVariation 0.01 disgenet
Acrocallosal Syndrome BBS2 disease C0796147 GeneticVariation 0.01 disgenet
Acrocallosal Syndrome TP53 disease C0796147 GeneticVariation 0.01 disgenet
Acrocallosal Syndrome BBS4 disease C0796147 GeneticVariation 0.01 disgenet
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