| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spastic paraplegia type 5A, recessive | CYP7B1 | disease | C2931356 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Spastic paraplegia type 5A, recessive | CYP7B1 | disease | C2931356 | GeneticVariation | 0.51 | orphanet , disgenet |
| Spastic paraplegia type 5A, recessive | CYP7B1 | disease | C2931356 | Biomarker | 0.51 | orphanet , disgenet |
| Spastic paraplegia type 5A, recessive | DDHD1 | disease | C2931356 | Biomarker | 0.02 | disgenet |
| Spastic paraplegia type 5A, recessive | SPG11 | disease | C2931356 | GeneticVariation | 0.02 | disgenet |
| Spastic paraplegia type 5A, recessive | DDHD1 | disease | C2931356 | GeneticVariation | 0.02 | disgenet |
| Spastic paraplegia type 5A, recessive | NT5C2 | disease | C2931356 | Biomarker | 0.01 | orphanet , disgenet |
| Spastic paraplegia type 5A, recessive | FARS2 | disease | C2931356 | GeneticVariation | 0.01 | orphanet , disgenet |
| Spastic paraplegia type 5A, recessive | FBXO7 | disease | C2931356 | GeneticVariation | 0.01 | disgenet |
| Spastic paraplegia type 5A, recessive | ATP13A2 | disease | C2931356 | GeneticVariation | 0.01 | orphanet , disgenet |
| Spastic paraplegia type 5A, recessive | ALDH18A1 | disease | C2931356 | GeneticVariation | 0.01 | orphanet , disgenet |
| Spastic paraplegia type 5A, recessive | HSP90B2P | disease | C2931356 | Biomarker | 0.01 | disgenet |
| Spastic paraplegia type 5A, recessive | PANK1 | disease | C2931356 | GeneticVariation | 0.01 | disgenet |
| Spastic paraplegia type 5A, recessive | SFXN1 | disease | C2931356 | Biomarker | 0.01 | disgenet |
| Spastic paraplegia type 5A, recessive | SPG14 | disease | C2931356 | GeneticVariation | 0.01 | disgenet |
| Spastic paraplegia type 5A, recessive | PLA2G6 | disease | C2931356 | GeneticVariation | 0.01 | disgenet |
| Spastic paraplegia type 5A, recessive | SELENOI | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | WDR48 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | ERLIN1 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | ARL6IP1 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | CYP2U1 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | SPG23 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | MAG | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | MTRFR | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | ZFR | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | GBA2 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | TFG | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | DSTYK | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | AP5Z1 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | IBA57 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | VPS37A | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | DDHD2 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | AMPD2 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | CAPN1 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | RAB3GAP2 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | PGAP1 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | USP8 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | MARS1 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | ENTPD1 | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | ARSI | NA | C2931356 | NA | NA | orphanet |
| Spastic paraplegia type 5A, recessive | C19ORF12 | NA | C2931356 | NA | NA | orphanet |
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