| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Oculodentodigital Dysplasia | GJA1 | disease | C0812437 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Oculodentodigital Dysplasia | GJA1 | disease | C0812437 | AlteredExpression | 1 | orphanet , disgenet |
| Oculodentodigital Dysplasia | GJA1 | disease | C0812437 | CausalMutation | 1 | orphanet , disgenet |
| Oculodentodigital Dysplasia | GJA1 | disease | C0812437 | Biomarker | 1 | orphanet , disgenet |
| Oculodentodigital Dysplasia | GJA1 | disease | C0812437 | GeneticVariation | 1 | orphanet , disgenet |
| Oculodentodigital Dysplasia | SUFU | disease | C0812437 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Oculodentodigital Dysplasia | PTCH2 | disease | C0812437 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Oculodentodigital Dysplasia | PTCH1 | disease | C0812437 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Oculodentodigital Dysplasia | TWIST2 | disease | C0812437 | Biomarker | 0.01 | disgenet |
| Oculodentodigital Dysplasia | EYA4 | disease | C0812437 | AlteredExpression | 0.01 | disgenet |
| Oculodentodigital Dysplasia | MMRN1 | disease | C0812437 | GeneticVariation | 0.01 | disgenet |
| Oculodentodigital Dysplasia | CYP1B1 | disease | C0812437 | GeneticVariation | 0.01 | disgenet |
| Oculodentodigital Dysplasia | PLIN1 | disease | C0812437 | GeneticVariation | 0.01 | disgenet |
| Oculodentodigital Dysplasia | PLXNA2 | disease | C0812437 | Biomarker | 0.01 | disgenet |
| Oculodentodigital Dysplasia | BMP2 | disease | C0812437 | GeneticVariation | 0.01 | disgenet |
| Oculodentodigital Dysplasia | ADRA1D | disease | C0812437 | GeneticVariation | 0.01 | disgenet |
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