Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Partial agenesis of corpus callosum L1CAM disease C0431368 Biomarker 0.4 disgenet
Partial agenesis of corpus callosum PQBP1 disease C0431368 Biomarker 0.31 disgenet
Partial agenesis of corpus callosum PQBP1 disease C0431368 GeneticVariation 0.31 disgenet
Partial agenesis of corpus callosum GLI2 disease C0431368 GeneticVariation 0.11 disgenet
Partial agenesis of corpus callosum GPSM2 disease C0431368 Biomarker 0.11 disgenet
Partial agenesis of corpus callosum GLI2 disease C0431368 Biomarker 0.11 disgenet
Partial agenesis of corpus callosum GPSM2 disease C0431368 GeneticVariation 0.11 disgenet
Partial agenesis of corpus callosum SMARCA4 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum DPF2 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum TUBB3 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum ERCC3 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum SMARCE1 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum WDR4 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum GTF2E2 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum SMARCC2 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum OSTM1 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum PDHX disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum NSD1 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum SOX11 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum KATNB1 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum AMER1 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum CRPPA disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum LRP2 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum TMEM260 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum FRMD4A disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum GTF2H5 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum DHCR24 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum SOX4 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum ERCC2 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum ARID1B disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum SLC25A19 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum ARID1A disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum CENPE disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum MED12 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum MPLKIP disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum ARID2 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum SMARCB1 disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum RNF113A disease C0431368 Biomarker 0.1 disgenet
Partial agenesis of corpus callosum NFIX disease C0431368 Biomarker 0.01 disgenet
Partial agenesis of corpus callosum SATB2 disease C0431368 Biomarker 0.01 disgenet
Partial agenesis of corpus callosum RNU4ATAC disease C0431368 GeneticVariation 0.01 disgenet
Partial agenesis of corpus callosum KPNA7 NA C0431368 NA NA orphanet
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