Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Lissencephalies PAFAH1B1 disease C0266463 Biomarker 0.7 orphanet , disgenet
Lissencephalies PAFAH1B1 disease C0266463 GeneticVariation 0.7 orphanet , disgenet
Lissencephalies NDE1 disease C0266463 GeneticVariation 0.42 disgenet
Lissencephalies NDE1 disease C0266463 Biomarker 0.42 disgenet
Lissencephalies MACF1 disease C0266463 Biomarker 0.41 orphanet , disgenet
Lissencephalies MACF1 disease C0266463 GeneticVariation 0.41 orphanet , disgenet
Lissencephalies MACF1 disease C0266463 CausalMutation 0.41 orphanet , disgenet
Lissencephalies TUBA1A disease C0266463 GeneticVariation 0.4 orphanet , disgenet
Lissencephalies TMTC3 disease C0266463 Biomarker 0.4 disgenet
Lissencephalies TUBA1A disease C0266463 Biomarker 0.4 orphanet , disgenet
Lissencephalies TUBA1A disease C0266463 CausalMutation 0.4 orphanet , disgenet
Lissencephalies CTNNA2 disease C0266463 Biomarker 0.31 disgenet
Lissencephalies ARX disease C0266463 GeneticVariation 0.3 disgenet
Lissencephalies DCX disease C0266463 GeneticVariation 0.3 disgenet
Lissencephalies ARX disease C0266463 Biomarker 0.3 disgenet
Lissencephalies DCX disease C0266463 Biomarker 0.3 disgenet
Lissencephalies LAMB1 disease C0266463 Biomarker 0.3 disgenet
Lissencephalies DAG1 disease C0266463 Biomarker 0.21 disgenet
Lissencephalies TUBB2B disease C0266463 Biomarker 0.21 disgenet
Lissencephalies ZIC1 disease C0266463 Biomarker 0.2 disgenet
Lissencephalies YWHAE disease C0266463 GeneticVariation 0.13 disgenet
Lissencephalies CRADD disease C0266463 Biomarker 0.13 disgenet
Lissencephalies YWHAE disease C0266463 Biomarker 0.13 disgenet
Lissencephalies CRADD disease C0266463 GeneticVariation 0.13 disgenet
Lissencephalies KIAA1109 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies PEX26 disease C0266463 CausalMutation 0.1 disgenet
Lissencephalies HIC1 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies TUBB3 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies SLC25A19 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies PSAT1 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies CDK5 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies TUBA3E disease C0266463 GeneticVariation 0.1 disgenet
Lissencephalies ACTG1 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies NBN disease C0266463 CausalMutation 0.1 disgenet
Lissencephalies FTO disease C0266463 Biomarker 0.1 disgenet
Lissencephalies PEX13 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies CTU2 disease C0266463 Biomarker 0.1 disgenet
Lissencephalies EXOSC3 disease C0266463 CausalMutation 0.1 disgenet
Lissencephalies STS disease C0266463 Biomarker 0.1 disgenet
Lissencephalies PHGDH disease C0266463 Biomarker 0.1 disgenet
Lissencephalies MPDZ disease C0266463 Biomarker 0.1 disgenet
Lissencephalies RELN disease C0266463 AlteredExpression 0.08 disgenet
Lissencephalies RELN disease C0266463 Biomarker 0.08 disgenet
Lissencephalies RELN disease C0266463 GeneticVariation 0.08 disgenet
Lissencephalies DISC1 disease C0266463 GeneticVariation 0.02 disgenet
Lissencephalies CRK disease C0266463 GeneticVariation 0.02 disgenet
Lissencephalies DISC1 disease C0266463 Biomarker 0.02 disgenet
Lissencephalies TUBA1B disease C0266463 GeneticVariation 0.02 disgenet
Lissencephalies ACTB disease C0266463 Biomarker 0.02 disgenet
Lissencephalies ACTB disease C0266463 GeneticVariation 0.02 disgenet
Lissencephalies CALM1 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies RMDN2 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies STXBP1 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies NPC1 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies RNU4ATAC disease C0266463 Biomarker 0.01 disgenet
Lissencephalies KIAA0319 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies APC2 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies WDR47 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies TUBGCP2 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies TP53 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies WDR62 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies TSC1 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies TSC2 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies CALM2 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies PTAFR disease C0266463 Biomarker 0.01 disgenet
Lissencephalies KRIT1 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies VLDLR disease C0266463 Biomarker 0.01 disgenet
Lissencephalies DBNL disease C0266463 Biomarker 0.01 disgenet
Lissencephalies SMG6 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies CHCHD2 disease C0266463 AlteredExpression 0.01 disgenet
Lissencephalies CAST disease C0266463 Biomarker 0.01 disgenet
Lissencephalies SYBU disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies CAMKMT disease C0266463 Biomarker 0.01 disgenet
Lissencephalies TUBG1 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies CALM3 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies CASP2 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies MECP2 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies STIL disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies KATNB1 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies CD6 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies NDEL1 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies RMDN1 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies ADGRG1 disease C0266463 Biomarker 0.01 disgenet
Lissencephalies RMDN3 disease C0266463 GeneticVariation 0.01 disgenet
Lissencephalies KIF2A disease C0266463 GeneticVariation 0.01 disgenet
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