| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | FOXL2 | disease | C0220663 | Biomarker | 1 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | FOXL2 | disease | C0220663 | GeneticVariation | 1 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | FOXL2 | disease | C0220663 | AlteredExpression | 1 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | FOXL2 | disease | C0220663 | CausalMutation | 1 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | HNF1B | disease | C0220663 | GeneticVariation | 0.01 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | OSR2 | disease | C0220663 | Biomarker | 0.01 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | TBX20 | disease | C0220663 | Biomarker | 0.01 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | LHCGR | disease | C0220663 | Biomarker | 0.01 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | HTC2 | disease | C0220663 | GeneticVariation | 0.01 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | AICDA | disease | C0220663 | Biomarker | 0.01 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | ADNP | disease | C0220663 | GeneticVariation | 0.01 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | BPESC1 | disease | C0220663 | Biomarker | 0.01 | disgenet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | KAT6B | NA | C0220663 | NA | NA | orphanet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | SMARCA2 | NA | C0220663 | NA | NA | orphanet |
| Blepharophimosis, Ptosis, and Epicanthus Inversus | MED12 | NA | C0220663 | NA | NA | orphanet |
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