| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Multiple Pterygium Syndrome, Lethal Type | CHRNG | disease | C1854678 | GeneticVariation | 0.71 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRNG | disease | C1854678 | GermlineCausalMutation | 0.71 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRNG | disease | C1854678 | Biomarker | 0.71 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRNG | disease | C1854678 | CausalMutation | 0.71 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRND | disease | C1854678 | CausalMutation | 0.7 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRNA1 | disease | C1854678 | GeneticVariation | 0.7 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRND | disease | C1854678 | GeneticVariation | 0.7 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRNA1 | disease | C1854678 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRNA1 | disease | C1854678 | CausalMutation | 0.7 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRND | disease | C1854678 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRNA1 | disease | C1854678 | Biomarker | 0.7 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | CHRND | disease | C1854678 | Biomarker | 0.7 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | NEB | disease | C1854678 | Biomarker | 0.31 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | RYR1 | disease | C1854678 | GeneticVariation | 0.31 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | RYR1 | disease | C1854678 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | NEB | disease | C1854678 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | RAPSN | disease | C1854678 | GeneticVariation | 0.3 | orphanet , disgenet |
| Multiple Pterygium Syndrome, Lethal Type | TPM2 | disease | C1854678 | GeneticVariation | 0.01 | disgenet |
| Multiple Pterygium Syndrome, Lethal Type | GBE1 | disease | C1854678 | GeneticVariation | 0.01 | disgenet |
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