| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Coloboma | PAX6 | disease | C0009363 | CausalMutation | 0.75 | orphanet , disgenet |
| Coloboma | PAX6 | disease | C0009363 | GeneticVariation | 0.75 | orphanet , disgenet |
| Coloboma | PAX6 | disease | C0009363 | Biomarker | 0.75 | orphanet , disgenet |
| Coloboma | SALL2 | disease | C0009363 | GeneticVariation | 0.42 | orphanet , disgenet |
| Coloboma | SALL2 | disease | C0009363 | Biomarker | 0.42 | orphanet , disgenet |
| Coloboma | ACTG1 | disease | C0009363 | Biomarker | 0.41 | orphanet , disgenet |
| Coloboma | ACTG1 | disease | C0009363 | GeneticVariation | 0.41 | orphanet , disgenet |
| Coloboma | WDR37 | disease | C0009363 | GeneticVariation | 0.4 | disgenet |
| Coloboma | WDR37 | disease | C0009363 | Biomarker | 0.4 | disgenet |
| Coloboma | ACTB | disease | C0009363 | Biomarker | 0.31 | disgenet |
| Coloboma | RARA | disease | C0009363 | Biomarker | 0.31 | disgenet |
| Coloboma | ACTB | disease | C0009363 | GeneticVariation | 0.31 | disgenet |
| Coloboma | RARA | disease | C0009363 | GeneticVariation | 0.31 | disgenet |
| Coloboma | LAMB1 | disease | C0009363 | Biomarker | 0.3 | disgenet |
| Coloboma | ALDH7A1 | disease | C0009363 | Biomarker | 0.3 | disgenet |
| Coloboma | SLBP | disease | C0009363 | Biomarker | 0.3 | disgenet |
| Coloboma | CHD7 | disease | C0009363 | CausalMutation | 0.2 | disgenet |
| Coloboma | CHD7 | disease | C0009363 | AlteredExpression | 0.2 | disgenet |
| Coloboma | CHD7 | disease | C0009363 | GeneticVariation | 0.2 | disgenet |
| Coloboma | CHD7 | disease | C0009363 | Biomarker | 0.2 | disgenet |
| Coloboma | SOX2 | disease | C0009363 | GeneticVariation | 0.16 | disgenet |
| Coloboma | SOX2 | disease | C0009363 | Biomarker | 0.16 | disgenet |
| Coloboma | YAP1 | disease | C0009363 | Biomarker | 0.13 | orphanet , disgenet |
| Coloboma | MAB21L2 | disease | C0009363 | Biomarker | 0.13 | disgenet |
| Coloboma | ABCB6 | disease | C0009363 | Biomarker | 0.13 | orphanet , disgenet |
| Coloboma | MAB21L2 | disease | C0009363 | GeneticVariation | 0.13 | disgenet |
| Coloboma | ABCB6 | disease | C0009363 | GeneticVariation | 0.13 | orphanet , disgenet |
| Coloboma | YAP1 | disease | C0009363 | GeneticVariation | 0.13 | orphanet , disgenet |
| Coloboma | OTX2 | disease | C0009363 | Biomarker | 0.12 | disgenet |
| Coloboma | OTX2 | disease | C0009363 | GeneticVariation | 0.12 | disgenet |
| Coloboma | BMP4 | disease | C0009363 | Biomarker | 0.12 | disgenet |
| Coloboma | TMEM67 | disease | C0009363 | Biomarker | 0.12 | disgenet |
| Coloboma | BMP4 | disease | C0009363 | GeneticVariation | 0.12 | disgenet |
| Coloboma | SIX6 | disease | C0009363 | GeneticVariation | 0.12 | disgenet |
| Coloboma | SIX6 | disease | C0009363 | Biomarker | 0.12 | disgenet |
| Coloboma | TMEM67 | disease | C0009363 | GeneticVariation | 0.12 | disgenet |
| Coloboma | VSX2 | disease | C0009363 | GeneticVariation | 0.12 | disgenet |
| Coloboma | VSX2 | disease | C0009363 | Biomarker | 0.12 | disgenet |
| Coloboma | GDF3 | disease | C0009363 | Biomarker | 0.11 | disgenet |
| Coloboma | GDF6 | disease | C0009363 | Biomarker | 0.11 | disgenet |
| Coloboma | PACS1 | disease | C0009363 | GeneticVariation | 0.11 | disgenet |
| Coloboma | GDF6 | disease | C0009363 | GeneticVariation | 0.11 | disgenet |
| Coloboma | ALX3 | disease | C0009363 | Biomarker | 0.11 | disgenet |
| Coloboma | FOXE3 | disease | C0009363 | Biomarker | 0.11 | disgenet |
| Coloboma | KDM6A | disease | C0009363 | Biomarker | 0.11 | disgenet |
| Coloboma | PACS1 | disease | C0009363 | Biomarker | 0.11 | disgenet |
| Coloboma | FOXE3 | disease | C0009363 | GeneticVariation | 0.11 | disgenet |
| Coloboma | GDF3 | disease | C0009363 | GeneticVariation | 0.11 | disgenet |
| Coloboma | ESCO2 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | FKTN | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | CREBBP | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | RAP1A | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | CC2D2A | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | MED13L | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | PUF60 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | PUF60 | disease | C0009363 | GeneticVariation | 0.1 | disgenet |
| Coloboma | PQBP1 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | POMT1 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | FIBP | disease | C0009363 | GeneticVariation | 0.1 | disgenet |
| Coloboma | ELP4 | disease | C0009363 | CausalMutation | 0.1 | disgenet |
| Coloboma | KRAS | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | KMT2D | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | POLR1C | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | SMCHD1 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | POMT2 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | TBX22 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | EP300 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | FIBP | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | TBC1D23 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | NRAS | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | POLR1D | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | FFAR4 | disease | C0009363 | CausalMutation | 0.1 | disgenet |
| Coloboma | SRD5A3 | disease | C0009363 | CausalMutation | 0.1 | disgenet |
| Coloboma | RBP4 | disease | C0009363 | CausalMutation | 0.1 | disgenet |
| Coloboma | TMEM138 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | RPGRIP1L | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | GMPPB | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | PDE6D | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | ALG2 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | RAP1B | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | SMO | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | DPYD | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | TMEM237 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | MITF | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | POMGNT1 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | FKRP | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | SRD5A3 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | TBR1 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | PTPN11 | disease | C0009363 | CausalMutation | 0.1 | disgenet |
| Coloboma | HMGB3 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | HMX1 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | WASHC5 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | POMK | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | LARGE1 | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | HRAS | disease | C0009363 | Biomarker | 0.1 | disgenet |
| Coloboma | PAX2 | disease | C0009363 | Biomarker | 0.06 | disgenet |
| Coloboma | SNAP25 | disease | C0009363 | Biomarker | 0.06 | disgenet |
| Coloboma | PAX2 | disease | C0009363 | AlteredExpression | 0.06 | disgenet |
| Coloboma | PAX2 | disease | C0009363 | GeneticVariation | 0.06 | disgenet |
| Coloboma | SNAP25 | disease | C0009363 | GeneticVariation | 0.06 | disgenet |
| Coloboma | STRA6 | disease | C0009363 | GeneticVariation | 0.02 | disgenet |
| Coloboma | RARB | disease | C0009363 | GeneticVariation | 0.02 | disgenet |
| Coloboma | RARB | disease | C0009363 | Biomarker | 0.02 | disgenet |
| Coloboma | RAX | disease | C0009363 | GeneticVariation | 0.02 | disgenet |
| Coloboma | TP53 | disease | C0009363 | Biomarker | 0.02 | disgenet |
| Coloboma | TP53 | disease | C0009363 | GeneticVariation | 0.02 | disgenet |
| Coloboma | OLFM2 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | TCHP | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | FGF3 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | MYP10 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | HDAC1 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | BRPF1 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | SCRIB | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | KIF21A | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | ALDH1A3 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | RNF2 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | WDR11 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | USO1 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | B4GALT7 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | ATXN7 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | BMP7 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | VAX1 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | ZEB2 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | WDR35 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | MAF | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | TBX2 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | BCOR | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | BMPR1A | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | TMX3 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | PIGL | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | CASK | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | C12orf57 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | COL4A5 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | SOX11 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | FZD5 | disease | C0009363 | GeneticVariation | 0.01 | orphanet , disgenet |
| Coloboma | CEP290 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | ATOH7 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | FOXC1 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | PAFAH1B1 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | SALL4 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | CDON | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | LCP1 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | FOXF1 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | CRYAA | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | IPO13 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | C3AR1 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | TWF1 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | POR | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | TFAP2A | disease | C0009363 | AlteredExpression | 0.01 | disgenet |
| Coloboma | HPE8 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | TGFB2 | disease | C0009363 | AlteredExpression | 0.01 | disgenet |
| Coloboma | CYP1B1 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | GJA8 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | NDP | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | SPINT2 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | TENM3 | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | BCL6 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | ZNF462 | disease | C0009363 | Biomarker | 0.01 | disgenet |
| Coloboma | MIR204 | disease | C0009363 | Biomarker | 0.01 | orphanet , disgenet |
| Coloboma | FADD | disease | C0009363 | GeneticVariation | 0.01 | disgenet |
| Coloboma | IGBP1 | NA | C0009363 | NA | NA | orphanet |
| click here to return to the previous page | ||||||