| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| PEHO syndrome | ZNHIT3 | disease | C1850055 | CausalMutation | 0.73 | orphanet , disgenet |
| PEHO syndrome | ZNHIT3 | disease | C1850055 | GeneticVariation | 0.73 | orphanet , disgenet |
| PEHO syndrome | ZNHIT3 | disease | C1850055 | AlteredExpression | 0.73 | orphanet , disgenet |
| PEHO syndrome | ZNHIT3 | disease | C1850055 | Biomarker | 0.73 | orphanet , disgenet |
| PEHO syndrome | ZNHIT3 | disease | C1850055 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| PEHO syndrome | KIF1A | disease | C1850055 | GermlineCausalMutation | 0.42 | orphanet , disgenet |
| PEHO syndrome | KIF1A | disease | C1850055 | GeneticVariation | 0.42 | orphanet , disgenet |
| PEHO syndrome | KIF1A | disease | C1850055 | CausalMutation | 0.42 | orphanet , disgenet |
| PEHO syndrome | CCDC88A | disease | C1850055 | GeneticVariation | 0.32 | disgenet |
| PEHO syndrome | CCDC88A | disease | C1850055 | Biomarker | 0.32 | disgenet |
| PEHO syndrome | HESX1 | disease | C1850055 | GeneticVariation | 0.01 | disgenet |
| PEHO syndrome | VPS53 | disease | C1850055 | GeneticVariation | 0.01 | disgenet |
| PEHO syndrome | RARS2 | disease | C1850055 | GeneticVariation | 0.01 | disgenet |
| PEHO syndrome | SEPSECS | disease | C1850055 | GeneticVariation | 0.01 | disgenet |
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