Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cobblestone Lissencephaly POMT2 disease C0431376 GeneticVariation 0.41 disgenet
Cobblestone Lissencephaly POMT1 disease C0431376 GeneticVariation 0.41 disgenet
Cobblestone Lissencephaly POMT2 disease C0431376 Biomarker 0.41 disgenet
Cobblestone Lissencephaly POMT1 disease C0431376 Biomarker 0.41 disgenet
Cobblestone Lissencephaly TMTC3 disease C0431376 Biomarker 0.33 disgenet
Cobblestone Lissencephaly FKRP disease C0431376 Biomarker 0.11 disgenet
Cobblestone Lissencephaly CRPPA disease C0431376 Biomarker 0.11 disgenet
Cobblestone Lissencephaly RXYLT1 disease C0431376 Biomarker 0.11 disgenet
Cobblestone Lissencephaly CRPPA disease C0431376 GeneticVariation 0.11 disgenet
Cobblestone Lissencephaly FKTN disease C0431376 GeneticVariation 0.11 disgenet
Cobblestone Lissencephaly RXYLT1 disease C0431376 GeneticVariation 0.11 disgenet
Cobblestone Lissencephaly FKTN disease C0431376 Biomarker 0.11 disgenet
Cobblestone Lissencephaly FKRP disease C0431376 GeneticVariation 0.11 disgenet
Cobblestone Lissencephaly POMK disease C0431376 Biomarker 0.1 disgenet
Cobblestone Lissencephaly LAMB1 disease C0431376 Biomarker 0.1 orphanet , disgenet
Cobblestone Lissencephaly TUBB3 disease C0431376 Biomarker 0.1 disgenet
Cobblestone Lissencephaly GMPPB disease C0431376 Biomarker 0.1 disgenet
Cobblestone Lissencephaly LARGE1 disease C0431376 Biomarker 0.1 disgenet
Cobblestone Lissencephaly POMGNT1 disease C0431376 Biomarker 0.1 disgenet
Cobblestone Lissencephaly B3GALNT2 disease C0431376 Biomarker 0.1 disgenet
Cobblestone Lissencephaly B4GAT1 disease C0431376 Biomarker 0.1 disgenet
Cobblestone Lissencephaly POMGNT2 disease C0431376 Biomarker 0.1 disgenet
Cobblestone Lissencephaly ZIC5 disease C0431376 Biomarker 0.01 disgenet
Cobblestone Lissencephaly ZIC3 disease C0431376 Biomarker 0.01 disgenet
Cobblestone Lissencephaly AQP1 disease C0431376 AlteredExpression 0.01 disgenet
Cobblestone Lissencephaly DAG1 disease C0431376 Biomarker 0.01 disgenet
Cobblestone Lissencephaly RIC8A disease C0431376 Biomarker 0.01 disgenet
Cobblestone Lissencephaly ADGRG1 disease C0431376 GeneticVariation 0.01 disgenet
Cobblestone Lissencephaly TPR disease C0431376 GeneticVariation 0.01 disgenet
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