| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Dystrophies, Facioscapulohumeral Muscular | SMCHD1 | disease | C0238288 | GermlineCausalMutation | 0.6 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SMCHD1 | disease | C0238288 | Biomarker | 0.6 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SMCHD1 | disease | C0238288 | GeneticVariation | 0.6 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4 | disease | C0238288 | GeneticVariation | 0.6 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SMCHD1 | disease | C0238288 | GermlineModifyingMutation | 0.6 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4 | disease | C0238288 | PosttranslationalModification | 0.6 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4 | disease | C0238288 | Biomarker | 0.6 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4 | disease | C0238288 | AlteredExpression | 0.6 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FRG1 | disease | C0238288 | GeneticVariation | 0.4 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FRG1 | disease | C0238288 | AlteredExpression | 0.4 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FRG1 | disease | C0238288 | Biomarker | 0.4 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4L1 | disease | C0238288 | GeneticVariation | 0.35 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4L1 | disease | C0238288 | AlteredExpression | 0.35 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4L1 | disease | C0238288 | Biomarker | 0.35 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LUM | disease | C0238288 | Biomarker | 0.31 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | HSPA1B | disease | C0238288 | Biomarker | 0.3 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ACAN | disease | C0238288 | Biomarker | 0.3 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | GSTT2 | disease | C0238288 | Biomarker | 0.3 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | HSPA4 | disease | C0238288 | Biomarker | 0.3 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | COL3A1 | disease | C0238288 | Biomarker | 0.3 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ELN | disease | C0238288 | Biomarker | 0.3 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DCN | disease | C0238288 | Biomarker | 0.3 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CDKN1A | disease | C0238288 | Biomarker | 0.3 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FAT1 | disease | C0238288 | Biomarker | 0.21 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LARGE1 | disease | C0238288 | Biomarker | 0.2 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FSHMD1A | disease | C0238288 | GeneticVariation | 0.1 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FSHMD1A | disease | C0238288 | Biomarker | 0.1 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FSHMD1A | disease | C0238288 | AlteredExpression | 0.1 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FLNA | disease | C0238288 | Biomarker | 0.09 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FLNA | disease | C0238288 | GeneticVariation | 0.09 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FRG2 | disease | C0238288 | AlteredExpression | 0.05 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FRG2 | disease | C0238288 | GeneticVariation | 0.05 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DMD | disease | C0238288 | Biomarker | 0.05 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DMD | disease | C0238288 | GeneticVariation | 0.05 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LOC107987486 | disease | C0238288 | Biomarker | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SLC25A4 | disease | C0238288 | AlteredExpression | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LOC107987487 | disease | C0238288 | Biomarker | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LOC107987484 | disease | C0238288 | Biomarker | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LOC107987484 | disease | C0238288 | AlteredExpression | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SAT2 | disease | C0238288 | Biomarker | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LOC107987485 | disease | C0238288 | Biomarker | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SAT2 | disease | C0238288 | GeneticVariation | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4L2 | disease | C0238288 | Biomarker | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LOC107987487 | disease | C0238288 | AlteredExpression | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LOC107987485 | disease | C0238288 | AlteredExpression | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4L2 | disease | C0238288 | AlteredExpression | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LOC107987486 | disease | C0238288 | AlteredExpression | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SLC25A4 | disease | C0238288 | Biomarker | 0.04 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FXR1 | disease | C0238288 | Biomarker | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IL2 | disease | C0238288 | Biomarker | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FXR1 | disease | C0238288 | AlteredExpression | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DNMT3B | disease | C0238288 | GeneticVariation | 0.03 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IL2 | disease | C0238288 | AlteredExpression | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PRPF6 | disease | C0238288 | Biomarker | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PAX7 | disease | C0238288 | Biomarker | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4L9 | disease | C0238288 | AlteredExpression | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DNMT3B | disease | C0238288 | Biomarker | 0.03 | orphanet , disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IFNG | disease | C0238288 | AlteredExpression | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DUX4L9 | disease | C0238288 | Biomarker | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PRPF6 | disease | C0238288 | AlteredExpression | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PAX7 | disease | C0238288 | AlteredExpression | 0.03 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SGSM3 | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SGSM3 | disease | C0238288 | GeneticVariation | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | BRD2 | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | BRD2 | disease | C0238288 | GeneticVariation | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | EIF3K | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PDLIM3 | disease | C0238288 | AlteredExpression | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | EIF3K | disease | C0238288 | AlteredExpression | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CTCF | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SLC38A2 | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SEA | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LMNA | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DBET | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SLC38A2 | disease | C0238288 | GeneticVariation | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CAPN3 | disease | C0238288 | GeneticVariation | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PITX1 | disease | C0238288 | Biomarker | 0.02 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ATHS | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CCNA1 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C9 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IRF1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ATRNL1 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C12 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ASRGL1 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IL21 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C11 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C5 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CRK | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FST | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PCBP4 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IL6 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ASH1L | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PMP22 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MYF5 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FOSL1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | G3BP1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ZASP | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PSD4 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CHAF1B | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CCL20 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C13 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CDC27 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | OPN1LW | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C15 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ST3GAL4 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SDC2 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CXCL13 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CAV2 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MBD3L1 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | LRP2BP | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C1 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SLPI | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CREBBP | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | KLF15 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MIR206 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | NAT10 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CHAF1A | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | C1QBP | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CNOT8 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C6 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SPECC1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SKP1 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MAPK14 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | EWSR1 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ALPP | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FSHMD1B | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | HSPG2 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CDKN3 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CCL27 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MSTN | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ITGB6 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | TIMP3 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FHL1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | RBFOX1 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ZFYVE9 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ANXA13 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PPIA | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IRF2 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | SUMF2 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IL4 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4-16 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | RNF19A | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C4 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ESR2 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FBXW7 | disease | C0238288 | PosttranslationalModification | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C3 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C2 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MIR411 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FGF1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CRYM | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | FGF2 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | TP53 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | DCTN3 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | RGCC | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | EIF4E | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | RTN1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | IL10 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | RTN4 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | AIMP2 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | TACR2 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | EP300 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PCNT | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C14 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MAPK1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | ARNTL | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CD44 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PAX3 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MIR1307 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | CNOT7 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | H4C8 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | EMD | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | PAG1 | disease | C0238288 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | AHSA1 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | POLDIP2 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | GRAP2 | disease | C0238288 | Biomarker | 0.01 | disgenet |
| Dystrophies, Facioscapulohumeral Muscular | MYH7 | disease | C0238288 | GeneticVariation | 0.01 | disgenet |
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