| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Orofaciodigital syndrome 6 | CPLANE1 | disease | C2745997 | CausalMutation | 0.75 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | CPLANE1 | disease | C2745997 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | CPLANE1 | disease | C2745997 | Biomarker | 0.75 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | CPLANE1 | disease | C2745997 | GeneticVariation | 0.75 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | KIAA0753 | disease | C2745997 | GeneticVariation | 0.31 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | KIAA0753 | disease | C2745997 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | PDE6D | disease | C2745997 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | TMEM216 | disease | C2745997 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | FAM149B1 | disease | C2745997 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | TCTN3 | disease | C2745997 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | KIF7 | disease | C2745997 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Orofaciodigital syndrome 6 | TMEM231 | disease | C2745997 | GeneticVariation | 0.01 | disgenet |
| Orofaciodigital syndrome 6 | TCTN1 | disease | C2745997 | GeneticVariation | 0.01 | disgenet |
| Orofaciodigital syndrome 6 | CEP290 | disease | C2745997 | GeneticVariation | 0.01 | disgenet |
| Orofaciodigital syndrome 6 | INTU | disease | C2745997 | Biomarker | 0.01 | disgenet |
| Orofaciodigital syndrome 6 | OFD1 | NA | C2745997 | NA | NA | orphanet |
| Orofaciodigital syndrome 6 | TOPORS | NA | C2745997 | NA | NA | orphanet |
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