Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Heterotopias, Periventricular Nodular ERMARD disease C1868720 GermlineCausalMutation 0.72 orphanet , disgenet
Heterotopias, Periventricular Nodular ERMARD disease C1868720 Biomarker 0.72 orphanet , disgenet
Heterotopias, Periventricular Nodular ERMARD disease C1868720 GeneticVariation 0.72 orphanet , disgenet
Heterotopias, Periventricular Nodular FLNA disease C1868720 GeneticVariation 0.7 orphanet , disgenet
Heterotopias, Periventricular Nodular FLNA disease C1868720 Biomarker 0.7 orphanet , disgenet
Heterotopias, Periventricular Nodular ARFGEF2 disease C1868720 GeneticVariation 0.68 orphanet , disgenet
Heterotopias, Periventricular Nodular ARFGEF2 disease C1868720 Biomarker 0.68 orphanet , disgenet
Heterotopias, Periventricular Nodular ARFGEF2 disease C1868720 GermlineCausalMutation 0.68 orphanet , disgenet
Heterotopias, Periventricular Nodular NEDD4L disease C1868720 GeneticVariation 0.64 orphanet , disgenet
Heterotopias, Periventricular Nodular NEDD4L disease C1868720 GermlineCausalMutation 0.64 orphanet , disgenet
Heterotopias, Periventricular Nodular NEDD4L disease C1868720 Biomarker 0.64 orphanet , disgenet
Heterotopias, Periventricular Nodular MAP1B disease C1868720 GeneticVariation 0.42 orphanet , disgenet
Heterotopias, Periventricular Nodular MAP1B disease C1868720 Biomarker 0.42 orphanet , disgenet
Heterotopias, Periventricular Nodular MAP1B disease C1868720 GermlineCausalMutation 0.42 orphanet , disgenet
Heterotopias, Periventricular Nodular TMTC3 disease C1868720 GermlineCausalMutation 0.41 orphanet , disgenet
Heterotopias, Periventricular Nodular ARF1 disease C1868720 GermlineCausalMutation 0.41 orphanet , disgenet
Heterotopias, Periventricular Nodular TMTC3 disease C1868720 Biomarker 0.41 orphanet , disgenet
Heterotopias, Periventricular Nodular ARF1 disease C1868720 GeneticVariation 0.41 orphanet , disgenet
Heterotopias, Periventricular Nodular ARF1 disease C1868720 Biomarker 0.41 orphanet , disgenet
Heterotopias, Periventricular Nodular DCHS1 disease C1868720 Biomarker 0.12 disgenet
Heterotopias, Periventricular Nodular DCHS1 disease C1868720 GeneticVariation 0.12 disgenet
Heterotopias, Periventricular Nodular FAT4 disease C1868720 Biomarker 0.11 disgenet
Heterotopias, Periventricular Nodular FMR1 disease C1868720 GeneticVariation 0.11 disgenet
Heterotopias, Periventricular Nodular FMR1 disease C1868720 Biomarker 0.11 disgenet
Heterotopias, Periventricular Nodular FAT4 disease C1868720 GeneticVariation 0.11 disgenet
Heterotopias, Periventricular Nodular SLC25A24 disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular CSF1R disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular KAT6B disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular MAN1B1 disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular ANKRD11 disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular RTTN disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular DHCR7 disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular ZSWIM6 disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular C2CD3 disease C1868720 Biomarker 0.1 disgenet
Heterotopias, Periventricular Nodular PAFAH1B1 disease C1868720 GeneticVariation 0.02 disgenet
Heterotopias, Periventricular Nodular PAFAH1B1 disease C1868720 Biomarker 0.02 disgenet
Heterotopias, Periventricular Nodular DCX disease C1868720 GeneticVariation 0.02 disgenet
Heterotopias, Periventricular Nodular DCX disease C1868720 Biomarker 0.02 disgenet
Heterotopias, Periventricular Nodular INTS8 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular RMDN2 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular NES disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular MOB2 disease C1868720 GeneticVariation 0.01 disgenet
Heterotopias, Periventricular Nodular ARX disease C1868720 GeneticVariation 0.01 disgenet
Heterotopias, Periventricular Nodular PHF10 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular PLEKHG6 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular KIAA0319L disease C1868720 AlteredExpression 0.01 disgenet
Heterotopias, Periventricular Nodular DCDC2 disease C1868720 AlteredExpression 0.01 disgenet
Heterotopias, Periventricular Nodular MEN1 disease C1868720 GeneticVariation 0.01 disgenet
Heterotopias, Periventricular Nodular MAP3K4 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular RMDN1 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular DLL1 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular AKT1 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular RELN disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular HESX1 disease C1868720 GeneticVariation 0.01 disgenet
Heterotopias, Periventricular Nodular SMUG1 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular ERN1 disease C1868720 AlteredExpression 0.01 disgenet
Heterotopias, Periventricular Nodular YWHAE disease C1868720 GeneticVariation 0.01 disgenet
Heterotopias, Periventricular Nodular RMDN3 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular FAM20C disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular LLGL1 disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular SYBU disease C1868720 Biomarker 0.01 disgenet
Heterotopias, Periventricular Nodular GNAI2 disease C1868720 GeneticVariation 0.01 disgenet
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