| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Segawa syndrome, autosomal recessive | TH | disease | C2673535 | Biomarker | 0.72 | orphanet , disgenet |
| Segawa syndrome, autosomal recessive | TH | disease | C2673535 | CausalMutation | 0.72 | orphanet , disgenet |
| Segawa syndrome, autosomal recessive | TH | disease | C2673535 | GeneticVariation | 0.72 | orphanet , disgenet |
| Segawa syndrome, autosomal recessive | TH | disease | C2673535 | AlteredExpression | 0.72 | orphanet , disgenet |
| Segawa syndrome, autosomal recessive | TH | disease | C2673535 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
| Segawa syndrome, autosomal recessive | GCH1 | disease | C2673535 | Biomarker | 0.12 | disgenet |
| Segawa syndrome, autosomal recessive | GCH1 | disease | C2673535 | GeneticVariation | 0.12 | disgenet |
| Segawa syndrome, autosomal recessive | GCH1 | disease | C2673535 | CausalMutation | 0.12 | disgenet |
| Segawa syndrome, autosomal recessive | PRL | disease | C2673535 | Biomarker | 0.01 | disgenet |
| Segawa syndrome, autosomal recessive | SLC6A3 | disease | C2673535 | Biomarker | 0.01 | disgenet |
| Segawa syndrome, autosomal recessive | TSPOAP1 | NA | C2673535 | NA | NA | orphanet |
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