| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pena Shokeir syndrome, type 1 | MUSK | disease | C1276035 | Biomarker | 0.73 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | MUSK | disease | C1276035 | GeneticVariation | 0.73 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | MUSK | disease | C1276035 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | MUSK | disease | C1276035 | CausalMutation | 0.73 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | RAPSN | disease | C1276035 | GeneticVariation | 0.65 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | RAPSN | disease | C1276035 | CausalMutation | 0.65 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | RAPSN | disease | C1276035 | Biomarker | 0.65 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | RAPSN | disease | C1276035 | GermlineCausalMutation | 0.65 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | DOK7 | disease | C1276035 | Biomarker | 0.62 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | DOK7 | disease | C1276035 | CausalMutation | 0.62 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | DOK7 | disease | C1276035 | GeneticVariation | 0.62 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | DOK7 | disease | C1276035 | GermlineCausalMutation | 0.62 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | NUP88 | disease | C1276035 | Biomarker | 0.41 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | NUP88 | disease | C1276035 | GeneticVariation | 0.41 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | NUP88 | disease | C1276035 | GermlineCausalMutation | 0.41 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | MYOD1 | disease | C1276035 | GermlineCausalMutation | 0.4 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | MYOD1 | disease | C1276035 | Biomarker | 0.4 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | SLC18A3 | disease | C1276035 | GeneticVariation | 0.31 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | SLC18A3 | disease | C1276035 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Pena Shokeir syndrome, type 1 | GBE1 | disease | C1276035 | Biomarker | 0.31 | disgenet |
| Pena Shokeir syndrome, type 1 | ASCC1 | disease | C1276035 | Biomarker | 0.3 | disgenet |
| Pena Shokeir syndrome, type 1 | RYR1 | disease | C1276035 | Biomarker | 0.12 | disgenet |
| Pena Shokeir syndrome, type 1 | NEB | disease | C1276035 | Biomarker | 0.12 | disgenet |
| Pena Shokeir syndrome, type 1 | GLE1 | disease | C1276035 | Biomarker | 0.12 | disgenet |
| Pena Shokeir syndrome, type 1 | GLE1 | disease | C1276035 | GeneticVariation | 0.12 | disgenet |
| Pena Shokeir syndrome, type 1 | RYR1 | disease | C1276035 | GeneticVariation | 0.12 | disgenet |
| Pena Shokeir syndrome, type 1 | KLHL40 | disease | C1276035 | Biomarker | 0.11 | disgenet |
| Pena Shokeir syndrome, type 1 | KLHL40 | disease | C1276035 | GeneticVariation | 0.11 | disgenet |
| Pena Shokeir syndrome, type 1 | CHRNG | disease | C1276035 | GeneticVariation | 0.11 | disgenet |
| Pena Shokeir syndrome, type 1 | CHRND | disease | C1276035 | Biomarker | 0.11 | disgenet |
| Pena Shokeir syndrome, type 1 | CHRNG | disease | C1276035 | Biomarker | 0.11 | disgenet |
| Pena Shokeir syndrome, type 1 | TPM2 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | CNTN1 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | MYPN | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | KIF5C | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | LGI4 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | GBA | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | TPM3 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | KLHL41 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | CNTNAP1 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | CHRNA1 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | KBTBD13 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | ACTA1 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | NEK9 | disease | C1276035 | Biomarker | 0.1 | disgenet |
| Pena Shokeir syndrome, type 1 | PDHA1 | disease | C1276035 | GeneticVariation | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | OFD1 | disease | C1276035 | Biomarker | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | DPAGT1 | disease | C1276035 | Biomarker | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | DTNA | disease | C1276035 | Biomarker | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | TUBB2B | disease | C1276035 | GeneticVariation | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | PIGS | disease | C1276035 | GeneticVariation | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | SYNE1 | disease | C1276035 | Biomarker | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | AGRN | disease | C1276035 | Biomarker | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | KIF14 | disease | C1276035 | Biomarker | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | ACTB | disease | C1276035 | Biomarker | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | COL1A2 | disease | C1276035 | Biomarker | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | NMNAT2 | disease | C1276035 | GeneticVariation | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | FLAD1 | disease | C1276035 | GeneticVariation | 0.01 | disgenet |
| Pena Shokeir syndrome, type 1 | DNM2 | NA | C1276035 | NA | NA | orphanet |
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