| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Megalocornea | CHRDL1 | disease | C0344530 | Biomarker | 0.75 | orphanet , disgenet |
| Megalocornea | CHRDL1 | disease | C0344530 | GeneticVariation | 0.75 | orphanet , disgenet |
| Megalocornea | CHRDL1 | disease | C0344530 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| Megalocornea | CHRDL1 | disease | C0344530 | CausalMutation | 0.75 | orphanet , disgenet |
| Megalocornea | LTBP2 | disease | C0344530 | GeneticVariation | 0.12 | orphanet , disgenet |
| Megalocornea | LTBP2 | disease | C0344530 | Biomarker | 0.12 | orphanet , disgenet |
| Megalocornea | COL5A2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | NELFA | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | RFC2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | COL11A1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | PIEZO2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | NSD2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | CDH11 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | TEK | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | SLC2A10 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | COL11A1 | disease | C0344530 | GeneticVariation | 0.1 | disgenet |
| Megalocornea | GNPTAB | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | LETM1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | TBL2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | FGFR2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | POMK | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | COL1A1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | GTF2IRD1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | POMT1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | NFIX | disease | C0344530 | GeneticVariation | 0.1 | disgenet |
| Megalocornea | FKRP | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | CLIP2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | FKTN | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | PITX2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | POMGNT1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | GTF2I | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | PRDM5 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | LARGE1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | FGD1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | FBN1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | BAZ1B | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | TINF2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | COL5A1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | PIK3R1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | POMT2 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | ZNF469 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | LIMK1 | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | PPP2CA | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | ELN | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | GMPPB | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | KIFBP | disease | C0344530 | Biomarker | 0.1 | disgenet |
| Megalocornea | COL8A2 | disease | C0344530 | Biomarker | 0.01 | disgenet |
| Megalocornea | SMAD1 | disease | C0344530 | Biomarker | 0.01 | disgenet |
| Megalocornea | COL8A1 | disease | C0344530 | GeneticVariation | 0.01 | disgenet |
| Megalocornea | ZAP70 | disease | C0344530 | Biomarker | 0.01 | disgenet |
| Megalocornea | RPS6KB2 | disease | C0344530 | Biomarker | 0.01 | disgenet |
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