| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Acrocallosal Syndrome | KIF7 | disease | C0796147 | Biomarker | 0.98 | orphanet , disgenet |
| Acrocallosal Syndrome | KIF7 | disease | C0796147 | GermlineCausalMutation | 0.98 | orphanet , disgenet |
| Acrocallosal Syndrome | KIF7 | disease | C0796147 | GeneticVariation | 0.98 | orphanet , disgenet |
| Acrocallosal Syndrome | KIF7 | disease | C0796147 | CausalMutation | 0.98 | orphanet , disgenet |
| Acrocallosal Syndrome | GLI3 | disease | C0796147 | GermlineCausalMutation | 0.35 | orphanet , disgenet |
| Acrocallosal Syndrome | GLI3 | disease | C0796147 | GeneticVariation | 0.35 | orphanet , disgenet |
| Acrocallosal Syndrome | GLI3 | disease | C0796147 | Biomarker | 0.35 | orphanet , disgenet |
| Acrocallosal Syndrome | SUFU | disease | C0796147 | GermlineCausalMutation | 0.3 | disgenet |
| Acrocallosal Syndrome | FOXG1 | disease | C0796147 | Biomarker | 0.3 | disgenet |
| Acrocallosal Syndrome | TICRR | disease | C0796147 | GeneticVariation | 0.1 | disgenet |
| Acrocallosal Syndrome | TICRR | disease | C0796147 | CausalMutation | 0.1 | disgenet |
| Acrocallosal Syndrome | L1CAM | disease | C0796147 | GeneticVariation | 0.01 | disgenet |
| Acrocallosal Syndrome | BBS2 | disease | C0796147 | GeneticVariation | 0.01 | disgenet |
| Acrocallosal Syndrome | TP53 | disease | C0796147 | GeneticVariation | 0.01 | disgenet |
| Acrocallosal Syndrome | BBS4 | disease | C0796147 | GeneticVariation | 0.01 | disgenet |
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