| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Anophthalmos | SOX2 | disease | C0003119 | CausalMutation | 0.5 | disgenet |
| Anophthalmos | SOX2 | disease | C0003119 | Biomarker | 0.5 | disgenet |
| Anophthalmos | SOX2 | disease | C0003119 | GeneticVariation | 0.5 | disgenet |
| Anophthalmos | STRA6 | disease | C0003119 | Biomarker | 0.48 | disgenet |
| Anophthalmos | STRA6 | disease | C0003119 | GeneticVariation | 0.48 | disgenet |
| Anophthalmos | RAX | disease | C0003119 | Biomarker | 0.47 | disgenet |
| Anophthalmos | RAX | disease | C0003119 | GeneticVariation | 0.47 | disgenet |
| Anophthalmos | RAX | disease | C0003119 | AlteredExpression | 0.47 | disgenet |
| Anophthalmos | PAX6 | disease | C0003119 | Biomarker | 0.32 | disgenet |
| Anophthalmos | OTX2 | disease | C0003119 | CausalMutation | 0.2 | disgenet |
| Anophthalmos | OTX2 | disease | C0003119 | GeneticVariation | 0.2 | disgenet |
| Anophthalmos | OTX2 | disease | C0003119 | AlteredExpression | 0.2 | disgenet |
| Anophthalmos | OTX2 | disease | C0003119 | Biomarker | 0.2 | disgenet |
| Anophthalmos | BMP4 | disease | C0003119 | Biomarker | 0.15 | disgenet |
| Anophthalmos | BMP4 | disease | C0003119 | GeneticVariation | 0.15 | disgenet |
| Anophthalmos | TFAP2A | disease | C0003119 | AlteredExpression | 0.12 | disgenet |
| Anophthalmos | TFAP2A | disease | C0003119 | Biomarker | 0.12 | disgenet |
| Anophthalmos | MAB21L2 | disease | C0003119 | AlteredExpression | 0.12 | disgenet |
| Anophthalmos | TFAP2A | disease | C0003119 | GeneticVariation | 0.12 | disgenet |
| Anophthalmos | MAB21L2 | disease | C0003119 | GeneticVariation | 0.12 | disgenet |
| Anophthalmos | MAB21L2 | disease | C0003119 | Biomarker | 0.12 | disgenet |
| Anophthalmos | SIX6 | disease | C0003119 | Biomarker | 0.12 | disgenet |
| Anophthalmos | SIX6 | disease | C0003119 | GeneticVariation | 0.12 | disgenet |
| Anophthalmos | HCCS | disease | C0003119 | GeneticVariation | 0.11 | disgenet |
| Anophthalmos | HCCS | disease | C0003119 | Biomarker | 0.11 | disgenet |
| Anophthalmos | RBP4 | disease | C0003119 | Biomarker | 0.11 | disgenet |
| Anophthalmos | RARB | disease | C0003119 | GeneticVariation | 0.11 | disgenet |
| Anophthalmos | RARB | disease | C0003119 | Biomarker | 0.11 | disgenet |
| Anophthalmos | RBP4 | disease | C0003119 | GeneticVariation | 0.11 | disgenet |
| Anophthalmos | GLI2 | disease | C0003119 | GeneticVariation | 0.11 | disgenet |
| Anophthalmos | GLI2 | disease | C0003119 | Biomarker | 0.11 | disgenet |
| Anophthalmos | RXYLT1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | TCTN2 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | B9D2 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | FRAS1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | B3GALNT2 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | PORCN | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | SMOC1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | CC2D2A | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | POMGNT1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | POMK | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | WDPCP | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | POMT2 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | FANCB | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | CRPPA | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | TMEM231 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | BCOR | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | RPGRIP1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | FKRP | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | FREM2 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | TMEM107 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | TMEM67 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | SMCHD1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | GRIP1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | B4GAT1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | B9D1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | LARGE1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | KIF7 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | FKTN | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | CEP55 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | CEP290 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | POMT1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | POMGNT2 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | CSPP1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | SOX2-OT | disease | C0003119 | CausalMutation | 0.1 | disgenet |
| Anophthalmos | NDUFB11 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | TMEM216 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | COL4A1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | SEMA3E | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | NAA10 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | MKS1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | DAG1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | SH2B1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | RPGRIP1L | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | HYLS1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | CHD7 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | FREM1 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | KIF11 | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | COX7B | disease | C0003119 | Biomarker | 0.1 | disgenet |
| Anophthalmos | ALDH1A3 | disease | C0003119 | GeneticVariation | 0.08 | disgenet |
| Anophthalmos | VSX2 | disease | C0003119 | Biomarker | 0.06 | disgenet |
| Anophthalmos | VSX2 | disease | C0003119 | GeneticVariation | 0.06 | disgenet |
| Anophthalmos | GDF6 | disease | C0003119 | GeneticVariation | 0.02 | disgenet |
| Anophthalmos | ANOP1 | disease | C0003119 | GeneticVariation | 0.02 | disgenet |
| Anophthalmos | GDF6 | disease | C0003119 | Biomarker | 0.02 | disgenet |
| Anophthalmos | SOX3 | disease | C0003119 | GeneticVariation | 0.02 | disgenet |
| Anophthalmos | AVP | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | GH1 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | TEX11 | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | VAX1 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | GJA8 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | MITF | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | CDK5RAP2 | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | KITLG | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | VAX2 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | TMX3 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | SLC39A4 | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | SKI | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | TCF3 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | TCOF1 | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | NDP | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | HSP90AA1 | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | LHX2 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | RBM24 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | FOXC1 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | IGF1 | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | YAP1 | disease | C0003119 | GeneticVariation | 0.01 | disgenet |
| Anophthalmos | FOXE3 | disease | C0003119 | Biomarker | 0.01 | disgenet |
| Anophthalmos | ASXL1 | disease | C0003119 | Biomarker | 0.01 | disgenet |
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