Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Lymphedema, microcephaly and chorioretinopathy syndrome KIF11 disease C1835265 GermlineCausalMutation 0.74 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome KIF11 disease C1835265 CausalMutation 0.74 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome KIF11 disease C1835265 Biomarker 0.74 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome KIF11 disease C1835265 GeneticVariation 0.74 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome SETX disease C1835265 GeneticVariation 0.01 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome APTX disease C1835265 GeneticVariation 0.01 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome KIF1A disease C1835265 GeneticVariation 0.01 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome CACNA1A disease C1835265 GeneticVariation 0.01 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome ITPR1 disease C1835265 GeneticVariation 0.01 disgenet
Lymphedema, microcephaly and chorioretinopathy syndrome SPTBN2 disease C1835265 GeneticVariation 0.01 disgenet
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