| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Microphthalmia, syndromic 7 | HCCS | disease | C0796070 | GeneticVariation | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | HCCS | disease | C0796070 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | HCCS | disease | C0796070 | AlteredExpression | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | HCCS | disease | C0796070 | Biomarker | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | HCCS | disease | C0796070 | CausalMutation | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | NDUFB11 | disease | C0796070 | Biomarker | 0.72 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | NDUFB11 | disease | C0796070 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | NDUFB11 | disease | C0796070 | GeneticVariation | 0.72 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | NDUFB11 | disease | C0796070 | CausalMutation | 0.72 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | COX7B | disease | C0796070 | GermlineCausalMutation | 0.52 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | COX7B | disease | C0796070 | GeneticVariation | 0.52 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | COX7B | disease | C0796070 | Biomarker | 0.52 | orphanet , disgenet |
| Microphthalmia, syndromic 7 | ARHGAP6 | disease | C0796070 | Biomarker | 0.13 | disgenet |
| Microphthalmia, syndromic 7 | ARHGAP6 | disease | C0796070 | GeneticVariation | 0.13 | disgenet |
| Microphthalmia, syndromic 7 | ARHGAP6 | disease | C0796070 | CausalMutation | 0.13 | disgenet |
| Microphthalmia, syndromic 7 | DDIT3 | disease | C0796070 | Biomarker | 0.1 | disgenet |
| Microphthalmia, syndromic 7 | FUS | disease | C0796070 | Biomarker | 0.1 | disgenet |
| Microphthalmia, syndromic 7 | FUS | disease | C0796070 | AlteredExpression | 0.1 | disgenet |
| Microphthalmia, syndromic 7 | DDIT3 | disease | C0796070 | AlteredExpression | 0.1 | disgenet |
| Microphthalmia, syndromic 7 | FUS | disease | C0796070 | GeneticVariation | 0.1 | disgenet |
| Microphthalmia, syndromic 7 | DDIT3 | disease | C0796070 | GeneticVariation | 0.1 | disgenet |
| Microphthalmia, syndromic 7 | CD6 | disease | C0796070 | GeneticVariation | 0.07 | disgenet |
| Microphthalmia, syndromic 7 | CD6 | disease | C0796070 | Biomarker | 0.07 | disgenet |
| Microphthalmia, syndromic 7 | GOLPH3 | disease | C0796070 | Biomarker | 0.07 | disgenet |
| Microphthalmia, syndromic 7 | GOLPH3 | disease | C0796070 | GeneticVariation | 0.07 | disgenet |
| Microphthalmia, syndromic 7 | EWSR1 | disease | C0796070 | Biomarker | 0.03 | disgenet |
| Microphthalmia, syndromic 7 | MXLPO | disease | C0796070 | Biomarker | 0.03 | disgenet |
| Microphthalmia, syndromic 7 | EWSR1 | disease | C0796070 | GeneticVariation | 0.03 | disgenet |
| Microphthalmia, syndromic 7 | IL24 | disease | C0796070 | AlteredExpression | 0.02 | disgenet |
| Microphthalmia, syndromic 7 | VPS13A | disease | C0796070 | GeneticVariation | 0.02 | disgenet |
| Microphthalmia, syndromic 7 | PRG4 | disease | C0796070 | AlteredExpression | 0.02 | disgenet |
| Microphthalmia, syndromic 7 | PRG4 | disease | C0796070 | Biomarker | 0.02 | disgenet |
| Microphthalmia, syndromic 7 | PPARG | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | YAP1 | disease | C0796070 | AlteredExpression | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | BIRC5 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | RET | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | RASA1 | disease | C0796070 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | HTC2 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | INTS1 | disease | C0796070 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | CLCN4 | disease | C0796070 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | SOAT1 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | STARD13 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | THBS2 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | GLI1 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | PORCN | disease | C0796070 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | PIK3CG | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | SERPINE1 | disease | C0796070 | AlteredExpression | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | CDK4 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | PIK3CD | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | THPO | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | CASP9 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | WNT1 | disease | C0796070 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | HSP90AA1 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | MET | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | ARHGAP1 | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | PIK3CA | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | SMUG1 | disease | C0796070 | AlteredExpression | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | MIR486-1 | disease | C0796070 | AlteredExpression | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | TP53 | disease | C0796070 | AlteredExpression | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | XK | disease | C0796070 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | MIR135B | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | PIK3CB | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | ERG | disease | C0796070 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | LOC110806263 | disease | C0796070 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 7 | MMP2 | disease | C0796070 | Biomarker | 0.01 | disgenet |
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