| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Gonadal Dysgenesis | NUP107 | disease | C0018051 | Biomarker | 0.4 | disgenet |
| Gonadal Dysgenesis | NR5A1 | disease | C0018051 | GeneticVariation | 0.4 | orphanet , disgenet |
| Gonadal Dysgenesis | NR5A1 | disease | C0018051 | Therapeutic | 0.4 | orphanet , disgenet |
| Gonadal Dysgenesis | NR5A1 | disease | C0018051 | Biomarker | 0.4 | orphanet , disgenet |
| Gonadal Dysgenesis | FMR1 | disease | C0018051 | Biomarker | 0.3 | disgenet |
| Gonadal Dysgenesis | SRY | disease | C0018051 | Biomarker | 0.2 | orphanet , disgenet |
| Gonadal Dysgenesis | SRY | disease | C0018051 | GeneticVariation | 0.2 | orphanet , disgenet |
| Gonadal Dysgenesis | WT1 | disease | C0018051 | Biomarker | 0.16 | orphanet , disgenet |
| Gonadal Dysgenesis | WT1 | disease | C0018051 | GeneticVariation | 0.16 | orphanet , disgenet |
| Gonadal Dysgenesis | MAP3K1 | disease | C0018051 | Biomarker | 0.13 | orphanet , disgenet |
| Gonadal Dysgenesis | SOX9 | disease | C0018051 | GeneticVariation | 0.13 | orphanet , disgenet |
| Gonadal Dysgenesis | SOX9 | disease | C0018051 | Biomarker | 0.13 | orphanet , disgenet |
| Gonadal Dysgenesis | SOX9 | disease | C0018051 | AlteredExpression | 0.13 | orphanet , disgenet |
| Gonadal Dysgenesis | MAP3K1 | disease | C0018051 | GeneticVariation | 0.13 | orphanet , disgenet |
| Gonadal Dysgenesis | NR0B1 | disease | C0018051 | Biomarker | 0.12 | orphanet , disgenet |
| Gonadal Dysgenesis | NR0B1 | disease | C0018051 | GeneticVariation | 0.12 | orphanet , disgenet |
| Gonadal Dysgenesis | ZFPM2 | disease | C0018051 | Biomarker | 0.11 | disgenet |
| Gonadal Dysgenesis | ZFPM2 | disease | C0018051 | GeneticVariation | 0.11 | disgenet |
| Gonadal Dysgenesis | SPIDR | disease | C0018051 | Biomarker | 0.11 | disgenet |
| Gonadal Dysgenesis | FGFR3 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | HSD17B4 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | RXYLT1 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | MRPS22 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | GTF2E2 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | VAMP7 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | ERCC3 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | TOE1 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | DMRT3 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | FSHR | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | STK11 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | DHH | disease | C0018051 | Biomarker | 0.1 | orphanet , disgenet |
| Gonadal Dysgenesis | BCL10 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | ERCC2 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | BMP15 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | KIT | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | TWNK | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | WWOX | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | PSMC3IP | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | GTF2H5 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | GATA4 | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | RNF113A | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | MPLKIP | disease | C0018051 | Biomarker | 0.1 | disgenet |
| Gonadal Dysgenesis | DMRT1 | disease | C0018051 | Biomarker | 0.04 | orphanet , disgenet |
| Gonadal Dysgenesis | DMRT1 | disease | C0018051 | GeneticVariation | 0.04 | orphanet , disgenet |
| Gonadal Dysgenesis | AMH | disease | C0018051 | GeneticVariation | 0.03 | disgenet |
| Gonadal Dysgenesis | AMH | disease | C0018051 | Biomarker | 0.03 | disgenet |
| Gonadal Dysgenesis | AMH | disease | C0018051 | AlteredExpression | 0.03 | disgenet |
| Gonadal Dysgenesis | SRD5A2 | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | DMRT2 | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | DHX37 | disease | C0018051 | GeneticVariation | 0.01 | orphanet , disgenet |
| Gonadal Dysgenesis | CYP21A2 | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | MAMLD1 | disease | C0018051 | Biomarker | 0.01 | disgenet |
| Gonadal Dysgenesis | SHBG | disease | C0018051 | Biomarker | 0.01 | disgenet |
| Gonadal Dysgenesis | SSRP1 | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | GART | disease | C0018051 | Biomarker | 0.01 | disgenet |
| Gonadal Dysgenesis | PPP2R3C | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | AR | disease | C0018051 | Biomarker | 0.01 | disgenet |
| Gonadal Dysgenesis | PPIG | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | CD38 | disease | C0018051 | Biomarker | 0.01 | disgenet |
| Gonadal Dysgenesis | LHX9 | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | SOX8 | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | FANCA | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | HLA-A | disease | C0018051 | Biomarker | 0.01 | disgenet |
| Gonadal Dysgenesis | FGF9 | disease | C0018051 | GeneticVariation | 0.01 | disgenet |
| Gonadal Dysgenesis | PAICS | disease | C0018051 | Biomarker | 0.01 | disgenet |
| Gonadal Dysgenesis | CBX2 | NA | C0018051 | NA | NA | orphanet |
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