| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| COACH syndrome | TMEM67 | disease | C1857662 | CausalMutation | 0.74 | disgenet |
| COACH syndrome | TMEM67 | disease | C1857662 | Biomarker | 0.74 | disgenet |
| COACH syndrome | TMEM67 | disease | C1857662 | GermlineCausalMutation | 0.74 | disgenet |
| COACH syndrome | TMEM67 | disease | C1857662 | GeneticVariation | 0.74 | disgenet |
| COACH syndrome | RPGRIP1L | disease | C1857662 | GeneticVariation | 0.71 | disgenet |
| COACH syndrome | RPGRIP1L | disease | C1857662 | GermlineCausalMutation | 0.71 | disgenet |
| COACH syndrome | RPGRIP1L | disease | C1857662 | CausalMutation | 0.71 | disgenet |
| COACH syndrome | CC2D2A | disease | C1857662 | GeneticVariation | 0.71 | disgenet |
| COACH syndrome | RPGRIP1L | disease | C1857662 | Biomarker | 0.71 | disgenet |
| COACH syndrome | CC2D2A | disease | C1857662 | CausalMutation | 0.71 | disgenet |
| COACH syndrome | CC2D2A | disease | C1857662 | GermlineCausalMutation | 0.71 | disgenet |
| COACH syndrome | CC2D2A | disease | C1857662 | Biomarker | 0.71 | disgenet |
| COACH syndrome | INPP5E | disease | C1857662 | GermlineCausalMutation | 0.3 | disgenet |
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