Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cortical Development Malformations DYNC1H1 disease C1955869 GeneticVariation 0.43 disgenet
Cortical Development Malformations DYNC1H1 disease C1955869 Biomarker 0.43 disgenet
Cortical Development Malformations DYNC1H1 disease C1955869 CausalMutation 0.43 disgenet
Cortical Development Malformations WDR62 disease C1955869 GeneticVariation 0.41 disgenet
Cortical Development Malformations WDR62 disease C1955869 CausalMutation 0.41 disgenet
Cortical Development Malformations WDR62 disease C1955869 Biomarker 0.41 disgenet
Cortical Development Malformations MTOR disease C1955869 GeneticVariation 0.4 disgenet
Cortical Development Malformations MTOR disease C1955869 Biomarker 0.4 disgenet
Cortical Development Malformations MTOR disease C1955869 AlteredExpression 0.4 disgenet
Cortical Development Malformations TUBB2B disease C1955869 GeneticVariation 0.33 disgenet
Cortical Development Malformations TUBB2B disease C1955869 Biomarker 0.33 disgenet
Cortical Development Malformations TUBG1 disease C1955869 Biomarker 0.32 disgenet
Cortical Development Malformations AKT3 disease C1955869 AlteredExpression 0.32 disgenet
Cortical Development Malformations TUBG1 disease C1955869 GeneticVariation 0.32 disgenet
Cortical Development Malformations PIK3CA disease C1955869 Biomarker 0.32 disgenet
Cortical Development Malformations AKT3 disease C1955869 Biomarker 0.32 disgenet
Cortical Development Malformations KIF2A disease C1955869 Biomarker 0.31 disgenet
Cortical Development Malformations SLC1A1 disease C1955869 Biomarker 0.3 disgenet
Cortical Development Malformations KIF5C disease C1955869 Biomarker 0.3 disgenet
Cortical Development Malformations TBCD disease C1955869 Biomarker 0.3 disgenet
Cortical Development Malformations HRAS disease C1955869 Biomarker 0.3 disgenet
Cortical Development Malformations NDST1 disease C1955869 Biomarker 0.3 disgenet
Cortical Development Malformations KIFBP disease C1955869 Biomarker 0.3 disgenet
Cortical Development Malformations TUBA1A disease C1955869 GeneticVariation 0.13 disgenet
Cortical Development Malformations TUBA1A disease C1955869 Biomarker 0.13 disgenet
Cortical Development Malformations TUBA1A disease C1955869 CausalMutation 0.13 disgenet
Cortical Development Malformations TUBB3 disease C1955869 GeneticVariation 0.04 disgenet
Cortical Development Malformations TUBB3 disease C1955869 Biomarker 0.04 disgenet
Cortical Development Malformations DEPDC5 disease C1955869 GeneticVariation 0.03 disgenet
Cortical Development Malformations PIK3CG disease C1955869 Biomarker 0.02 disgenet
Cortical Development Malformations PIK3CB disease C1955869 Biomarker 0.02 disgenet
Cortical Development Malformations MLYCD disease C1955869 Biomarker 0.02 disgenet
Cortical Development Malformations PIK3CD disease C1955869 Biomarker 0.02 disgenet
Cortical Development Malformations MLYCD disease C1955869 GeneticVariation 0.02 disgenet
Cortical Development Malformations CDK1 disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations AGER disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations NPRL3 disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations DLGAP2 disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations BICD2 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations TSC1 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations TSC2 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations TUBA8 disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations TUBB disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations HMGB1 disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations BAX disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations CNTNAP2 disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations BCL2 disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations KATNB1 disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations ADGRG1 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations CCNB1 disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations GRIN1 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations MOK disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations GRIN2B disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations AKT1 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations BCL2L1 disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations SCN1A disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations TUBB2A disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations EPG5 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations TP53 disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations PAFAH1B1 disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations CBR1 disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations FOXG1 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations RTTN disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations DCX disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations OCLN disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations MUC1 disease C1955869 GeneticVariation 0.01 disgenet
Cortical Development Malformations TNFRSF19 disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations HTC2 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations TUBB4A disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations CNR1 disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations RELN disease C1955869 Biomarker 0.01 disgenet
Cortical Development Malformations ATP1B2 disease C1955869 AlteredExpression 0.01 disgenet
Cortical Development Malformations CCNA2 disease C1955869 GeneticVariation 0.01 disgenet
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