| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Myasthenic Syndrome, Congenital | GFPT1 | disease | C0751882 | GeneticVariation | 0.7 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | GFPT1 | disease | C0751882 | Biomarker | 0.7 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | GFPT1 | disease | C0751882 | CausalMutation | 0.7 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | AGRN | disease | C0751882 | Biomarker | 0.65 | disgenet |
| Myasthenic Syndrome, Congenital | AGRN | disease | C0751882 | CausalMutation | 0.65 | disgenet |
| Myasthenic Syndrome, Congenital | AGRN | disease | C0751882 | GeneticVariation | 0.65 | disgenet |
| Myasthenic Syndrome, Congenital | SCN4A | disease | C0751882 | GeneticVariation | 0.64 | disgenet |
| Myasthenic Syndrome, Congenital | SCN4A | disease | C0751882 | Biomarker | 0.64 | disgenet |
| Myasthenic Syndrome, Congenital | SCN4A | disease | C0751882 | CausalMutation | 0.64 | disgenet |
| Myasthenic Syndrome, Congenital | SLC18A3 | disease | C0751882 | GeneticVariation | 0.55 | disgenet |
| Myasthenic Syndrome, Congenital | SLC18A3 | disease | C0751882 | Biomarker | 0.55 | disgenet |
| Myasthenic Syndrome, Congenital | SLC5A7 | disease | C0751882 | Biomarker | 0.53 | disgenet |
| Myasthenic Syndrome, Congenital | SLC5A7 | disease | C0751882 | GeneticVariation | 0.53 | disgenet |
| Myasthenic Syndrome, Congenital | CHRND | disease | C0751882 | GeneticVariation | 0.52 | disgenet |
| Myasthenic Syndrome, Congenital | CHRND | disease | C0751882 | AlteredExpression | 0.52 | disgenet |
| Myasthenic Syndrome, Congenital | LRP4 | disease | C0751882 | Biomarker | 0.52 | disgenet |
| Myasthenic Syndrome, Congenital | ALG2 | disease | C0751882 | GeneticVariation | 0.52 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | ALG2 | disease | C0751882 | Biomarker | 0.52 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | CHRND | disease | C0751882 | Biomarker | 0.52 | disgenet |
| Myasthenic Syndrome, Congenital | ALG14 | disease | C0751882 | Biomarker | 0.51 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | ALG14 | disease | C0751882 | GeneticVariation | 0.51 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | DOK7 | disease | C0751882 | Biomarker | 0.5 | disgenet |
| Myasthenic Syndrome, Congenital | DOK7 | disease | C0751882 | GeneticVariation | 0.5 | disgenet |
| Myasthenic Syndrome, Congenital | RAPSN | disease | C0751882 | CausalMutation | 0.5 | disgenet |
| Myasthenic Syndrome, Congenital | COLQ | disease | C0751882 | Biomarker | 0.5 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | COLQ | disease | C0751882 | GeneticVariation | 0.5 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | DOK7 | disease | C0751882 | CausalMutation | 0.5 | disgenet |
| Myasthenic Syndrome, Congenital | RAPSN | disease | C0751882 | GeneticVariation | 0.5 | disgenet |
| Myasthenic Syndrome, Congenital | COLQ | disease | C0751882 | CausalMutation | 0.5 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | RAPSN | disease | C0751882 | Biomarker | 0.5 | disgenet |
| Myasthenic Syndrome, Congenital | RAPSN | disease | C0751882 | AlteredExpression | 0.5 | disgenet |
| Myasthenic Syndrome, Congenital | GMPPB | disease | C0751882 | Biomarker | 0.48 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | GMPPB | disease | C0751882 | GeneticVariation | 0.48 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | GMPPB | disease | C0751882 | CausalMutation | 0.48 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | VAMP1 | disease | C0751882 | Biomarker | 0.42 | disgenet |
| Myasthenic Syndrome, Congenital | VAMP1 | disease | C0751882 | CausalMutation | 0.42 | disgenet |
| Myasthenic Syndrome, Congenital | VAMP1 | disease | C0751882 | GeneticVariation | 0.42 | disgenet |
| Myasthenic Syndrome, Congenital | DPAGT1 | disease | C0751882 | GeneticVariation | 0.39 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | DPAGT1 | disease | C0751882 | Biomarker | 0.39 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | DPAGT1 | disease | C0751882 | AlteredExpression | 0.39 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | MUSK | disease | C0751882 | Biomarker | 0.37 | disgenet |
| Myasthenic Syndrome, Congenital | MUSK | disease | C0751882 | GeneticVariation | 0.37 | disgenet |
| Myasthenic Syndrome, Congenital | COL13A1 | disease | C0751882 | Biomarker | 0.34 | disgenet |
| Myasthenic Syndrome, Congenital | COL13A1 | disease | C0751882 | GeneticVariation | 0.34 | disgenet |
| Myasthenic Syndrome, Congenital | PLEC | disease | C0751882 | Biomarker | 0.33 | disgenet |
| Myasthenic Syndrome, Congenital | PLEC | disease | C0751882 | GeneticVariation | 0.33 | disgenet |
| Myasthenic Syndrome, Congenital | LAMB2 | disease | C0751882 | Biomarker | 0.32 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | LAMB2 | disease | C0751882 | GeneticVariation | 0.32 | orphanet , disgenet |
| Myasthenic Syndrome, Congenital | PREPL | disease | C0751882 | Biomarker | 0.3 | disgenet |
| Myasthenic Syndrome, Congenital | SNAP25 | disease | C0751882 | Biomarker | 0.3 | disgenet |
| Myasthenic Syndrome, Congenital | CHRNG | disease | C0751882 | Biomarker | 0.3 | disgenet |
| Myasthenic Syndrome, Congenital | SYT2 | disease | C0751882 | Biomarker | 0.3 | disgenet |
| Myasthenic Syndrome, Congenital | CHRNB1 | disease | C0751882 | Biomarker | 0.3 | disgenet |
| Myasthenic Syndrome, Congenital | CHAT | disease | C0751882 | CausalMutation | 0.2 | disgenet |
| Myasthenic Syndrome, Congenital | CHAT | disease | C0751882 | Biomarker | 0.2 | disgenet |
| Myasthenic Syndrome, Congenital | CHRNE | disease | C0751882 | Biomarker | 0.2 | disgenet |
| Myasthenic Syndrome, Congenital | CHAT | disease | C0751882 | GeneticVariation | 0.2 | disgenet |
| Myasthenic Syndrome, Congenital | CHRNE | disease | C0751882 | CausalMutation | 0.2 | disgenet |
| Myasthenic Syndrome, Congenital | CHRNE | disease | C0751882 | GeneticVariation | 0.2 | disgenet |
| Myasthenic Syndrome, Congenital | ACHE | disease | C0751882 | GeneticVariation | 0.1 | disgenet |
| Myasthenic Syndrome, Congenital | C17orf107 | disease | C0751882 | GeneticVariation | 0.1 | disgenet |
| Myasthenic Syndrome, Congenital | ACHE | disease | C0751882 | Biomarker | 0.1 | disgenet |
| Myasthenic Syndrome, Congenital | ACHE | disease | C0751882 | AlteredExpression | 0.1 | disgenet |
| Myasthenic Syndrome, Congenital | TAPBPL | disease | C0751882 | CausalMutation | 0.1 | disgenet |
| Myasthenic Syndrome, Congenital | C17orf107 | disease | C0751882 | CausalMutation | 0.1 | disgenet |
| Myasthenic Syndrome, Congenital | CHRNA1 | disease | C0751882 | GeneticVariation | 0.08 | disgenet |
| Myasthenic Syndrome, Congenital | CHRNA1 | disease | C0751882 | AlteredExpression | 0.08 | disgenet |
| Myasthenic Syndrome, Congenital | CD2AP | disease | C0751882 | Biomarker | 0.05 | disgenet |
| Myasthenic Syndrome, Congenital | CD2AP | disease | C0751882 | GeneticVariation | 0.05 | disgenet |
| Myasthenic Syndrome, Congenital | BCHE | disease | C0751882 | Biomarker | 0.03 | disgenet |
| Myasthenic Syndrome, Congenital | HNRNPH1 | disease | C0751882 | GeneticVariation | 0.03 | disgenet |
| Myasthenic Syndrome, Congenital | HNRNPH2 | disease | C0751882 | GeneticVariation | 0.03 | disgenet |
| Myasthenic Syndrome, Congenital | HNRNPH2 | disease | C0751882 | Biomarker | 0.03 | disgenet |
| Myasthenic Syndrome, Congenital | BCHE | disease | C0751882 | AlteredExpression | 0.03 | disgenet |
| Myasthenic Syndrome, Congenital | HNRNPH1 | disease | C0751882 | Biomarker | 0.03 | disgenet |
| Myasthenic Syndrome, Congenital | SRSF1 | disease | C0751882 | GeneticVariation | 0.02 | disgenet |
| Myasthenic Syndrome, Congenital | EIF3K | disease | C0751882 | GeneticVariation | 0.02 | disgenet |
| Myasthenic Syndrome, Congenital | DAP | disease | C0751882 | Biomarker | 0.02 | disgenet |
| Myasthenic Syndrome, Congenital | MYO9A | disease | C0751882 | Biomarker | 0.02 | disgenet |
| Myasthenic Syndrome, Congenital | SRSF1 | disease | C0751882 | Biomarker | 0.02 | disgenet |
| Myasthenic Syndrome, Congenital | UTRN | disease | C0751882 | Biomarker | 0.02 | disgenet |
| Myasthenic Syndrome, Congenital | NTRK1 | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | TPM3 | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | SMN1 | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | MACF1 | disease | C0751882 | Biomarker | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | CHD7 | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | DNAJA3 | disease | C0751882 | Biomarker | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | SEMA7A | disease | C0751882 | Biomarker | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | SLC25A1 | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | NGFR | disease | C0751882 | Biomarker | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | LAMA5 | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | SMN2 | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | SEA | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | CAV1 | disease | C0751882 | Biomarker | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | ERBB3 | disease | C0751882 | Biomarker | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | RPH3A | disease | C0751882 | GeneticVariation | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | DES | disease | C0751882 | Biomarker | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | B3GAT1 | disease | C0751882 | Biomarker | 0.01 | disgenet |
| Myasthenic Syndrome, Congenital | VCP | disease | C0751882 | AlteredExpression | 0.01 | disgenet |
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