| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Optic nerve coloboma | PAX6 | disease | C0155299 | GeneticVariation | 0.71 | orphanet , disgenet |
| Optic nerve coloboma | PAX6 | disease | C0155299 | CausalMutation | 0.71 | orphanet , disgenet |
| Optic nerve coloboma | PAX6 | disease | C0155299 | GermlineCausalMutation | 0.71 | orphanet , disgenet |
| Optic nerve coloboma | PAX6 | disease | C0155299 | Biomarker | 0.71 | orphanet , disgenet |
| Optic nerve coloboma | SPINT2 | disease | C0155299 | Biomarker | 0.31 | disgenet |
| Optic nerve coloboma | SPINT2 | disease | C0155299 | GeneticVariation | 0.31 | disgenet |
| Optic nerve coloboma | ABCB6 | disease | C0155299 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Optic nerve coloboma | FZD5 | disease | C0155299 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Optic nerve coloboma | SALL2 | disease | C0155299 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Optic nerve coloboma | PAX2 | disease | C0155299 | CausalMutation | 0.15 | disgenet |
| Optic nerve coloboma | PAX2 | disease | C0155299 | Biomarker | 0.15 | disgenet |
| Optic nerve coloboma | PAX2 | disease | C0155299 | GeneticVariation | 0.15 | disgenet |
| Optic nerve coloboma | FOXE3 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | ACTG1 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | SMO | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | PMM2 | disease | C0155299 | CausalMutation | 0.1 | disgenet |
| Optic nerve coloboma | TMEM67 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | NIPBL | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | KIF26B | disease | C0155299 | CausalMutation | 0.1 | disgenet |
| Optic nerve coloboma | TFAP2A | disease | C0155299 | CausalMutation | 0.1 | disgenet |
| Optic nerve coloboma | RPGRIP1L | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | SALL4 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | SH2B1 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | CC2D2A | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | INPP5E | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | NAA10 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | ACTB | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | ELP4 | disease | C0155299 | CausalMutation | 0.1 | disgenet |
| Optic nerve coloboma | C2CD3 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | IGBP1 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | DDX11 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | TMEM216 | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | BCOR | disease | C0155299 | Biomarker | 0.1 | disgenet |
| Optic nerve coloboma | ODC1 | disease | C0155299 | GeneticVariation | 0.01 | disgenet |
| Optic nerve coloboma | SLC25A21 | disease | C0155299 | GeneticVariation | 0.01 | disgenet |
| Optic nerve coloboma | CD38 | disease | C0155299 | GeneticVariation | 0.01 | disgenet |
| click here to return to the previous page | ||||||