| 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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