| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Septo-Optic Dysplasia | HESX1 | disease | C0338503 | Biomarker | 1 | orphanet , disgenet |
| Septo-Optic Dysplasia | HESX1 | disease | C0338503 | AlteredExpression | 1 | orphanet , disgenet |
| Septo-Optic Dysplasia | HESX1 | disease | C0338503 | CausalMutation | 1 | orphanet , disgenet |
| Septo-Optic Dysplasia | HESX1 | disease | C0338503 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Septo-Optic Dysplasia | HESX1 | disease | C0338503 | GeneticVariation | 1 | orphanet , disgenet |
| Septo-Optic Dysplasia | PROKR2 | disease | C0338503 | Biomarker | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | SOX3 | disease | C0338503 | GeneticVariation | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | PROKR2 | disease | C0338503 | GeneticVariation | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | FGFR1 | disease | C0338503 | GermlineCausalMutation | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | PROKR2 | disease | C0338503 | GermlineCausalMutation | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | SOX3 | disease | C0338503 | GermlineCausalMutation | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | FGFR1 | disease | C0338503 | GeneticVariation | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | SOX3 | disease | C0338503 | Biomarker | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | FGFR1 | disease | C0338503 | Biomarker | 0.42 | orphanet , disgenet |
| Septo-Optic Dysplasia | SOX2 | disease | C0338503 | Biomarker | 0.41 | orphanet , disgenet |
| Septo-Optic Dysplasia | SOX2 | disease | C0338503 | GeneticVariation | 0.41 | orphanet , disgenet |
| Septo-Optic Dysplasia | SOX2 | disease | C0338503 | GermlineCausalMutation | 0.41 | orphanet , disgenet |
| Septo-Optic Dysplasia | ARNT2 | disease | C0338503 | GermlineCausalMutation | 0.4 | orphanet , disgenet |
| Septo-Optic Dysplasia | ARNT2 | disease | C0338503 | Biomarker | 0.4 | orphanet , disgenet |
| Septo-Optic Dysplasia | OTX2 | disease | C0338503 | Biomarker | 0.4 | orphanet , disgenet |
| Septo-Optic Dysplasia | OTX2 | disease | C0338503 | GermlineCausalMutation | 0.4 | orphanet , disgenet |
| Septo-Optic Dysplasia | PROP1 | disease | C0338503 | Biomarker | 0.15 | disgenet |
| Septo-Optic Dysplasia | PROP1 | disease | C0338503 | GeneticVariation | 0.15 | disgenet |
| Septo-Optic Dysplasia | GLI2 | disease | C0338503 | Biomarker | 0.11 | disgenet |
| Septo-Optic Dysplasia | POU1F1 | disease | C0338503 | GeneticVariation | 0.11 | disgenet |
| Septo-Optic Dysplasia | GLI2 | disease | C0338503 | GeneticVariation | 0.11 | disgenet |
| Septo-Optic Dysplasia | POU1F1 | disease | C0338503 | Biomarker | 0.11 | disgenet |
| Septo-Optic Dysplasia | WNT3 | disease | C0338503 | Biomarker | 0.1 | disgenet |
| Septo-Optic Dysplasia | CDON | disease | C0338503 | Biomarker | 0.1 | disgenet |
| Septo-Optic Dysplasia | LHX4 | disease | C0338503 | Biomarker | 0.1 | disgenet |
| Septo-Optic Dysplasia | LHX3 | disease | C0338503 | Biomarker | 0.1 | disgenet |
| Septo-Optic Dysplasia | RALGAPB | disease | C0338503 | GeneticVariation | 0.1 | disgenet |
| Septo-Optic Dysplasia | RSPO2 | disease | C0338503 | Biomarker | 0.1 | disgenet |
| Septo-Optic Dysplasia | WDR11 | disease | C0338503 | Biomarker | 0.1 | disgenet |
| Septo-Optic Dysplasia | GPR161 | disease | C0338503 | Biomarker | 0.1 | disgenet |
| Septo-Optic Dysplasia | ROBO1 | disease | C0338503 | Biomarker | 0.1 | disgenet |
| Septo-Optic Dysplasia | FGF8 | disease | C0338503 | GeneticVariation | 0.02 | disgenet |
| Septo-Optic Dysplasia | PROK2 | disease | C0338503 | GeneticVariation | 0.02 | disgenet |
| Septo-Optic Dysplasia | ANOS1 | disease | C0338503 | GeneticVariation | 0.02 | disgenet |
| Septo-Optic Dysplasia | PAX3 | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | CRX | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | CHD7 | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | FLNA | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | CYTB | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | TUBA1A | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | GDF6 | disease | C0338503 | Biomarker | 0.01 | disgenet |
| Septo-Optic Dysplasia | POMC | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | SLC20A1 | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | TAX1BP3 | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | GH1 | disease | C0338503 | GeneticVariation | 0.01 | disgenet |
| Septo-Optic Dysplasia | VAX1 | disease | C0338503 | Biomarker | 0.01 | disgenet |
| Septo-Optic Dysplasia | IGHD | disease | C0338503 | Biomarker | 0.01 | disgenet |
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