| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Mutations | NF1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | C14ORF39 | NA | C0026882 | NA | NA | orphanet |
| Mutations | DCX | NA | C0026882 | NA | NA | orphanet |
| Mutations | THRA | NA | C0026882 | NA | NA | orphanet |
| Mutations | TUBB2B | NA | C0026882 | NA | NA | orphanet |
| Mutations | SERPINA1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | KLHL10 | NA | C0026882 | NA | NA | orphanet |
| Mutations | GRIA3 | NA | C0026882 | NA | NA | orphanet |
| Mutations | TFG | NA | C0026882 | NA | NA | orphanet |
| Mutations | THRB | NA | C0026882 | NA | NA | orphanet |
| Mutations | CEBPA | NA | C0026882 | NA | NA | orphanet |
| Mutations | LMNA | NA | C0026882 | NA | NA | orphanet |
| Mutations | SNRPN | NA | C0026882 | NA | NA | orphanet |
| Mutations | NPM1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | SYCP3 | NA | C0026882 | NA | NA | orphanet |
| Mutations | PAFAH1B1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | VCP | NA | C0026882 | NA | NA | orphanet |
| Mutations | NDN | NA | C0026882 | NA | NA | orphanet |
| Mutations | SYCE1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | BRCA2 | NA | C0026882 | NA | NA | orphanet |
| Mutations | SNORD116@ | NA | C0026882 | NA | NA | orphanet |
| Mutations | XRCC2 | NA | C0026882 | NA | NA | orphanet |
| Mutations | KANSL1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | CFTR | NA | C0026882 | NA | NA | orphanet |
| Mutations | GRIN2A | NA | C0026882 | NA | NA | orphanet |
| Mutations | NSD1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | TUBB3 | NA | C0026882 | NA | NA | orphanet |
| Mutations | GJC2 | NA | C0026882 | NA | NA | orphanet |
| Mutations | SNORD115@ | NA | C0026882 | NA | NA | orphanet |
| Mutations | TDRD9 | NA | C0026882 | NA | NA | orphanet |
| Mutations | NANOS1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | TAF4B | NA | C0026882 | NA | NA | orphanet |
| Mutations | CD8A | NA | C0026882 | NA | NA | orphanet |
| Mutations | MAGEL2 | NA | C0026882 | NA | NA | orphanet |
| Mutations | CREBBP | NA | C0026882 | NA | NA | orphanet |
| Mutations | MT-TL1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | TECPR2 | NA | C0026882 | NA | NA | orphanet |
| Mutations | AIMP1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | ZEB2 | NA | C0026882 | NA | NA | orphanet |
| Mutations | SOHLH1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | MEIOB | NA | C0026882 | NA | NA | orphanet |
| Mutations | COL2A1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | KIF5A | NA | C0026882 | NA | NA | orphanet |
| Mutations | PLAG1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | FANCM | NA | C0026882 | NA | NA | orphanet |
| Mutations | CDKN1C | NA | C0026882 | NA | NA | orphanet |
| Mutations | ZMYND15 | NA | C0026882 | NA | NA | orphanet |
| Mutations | PNLDC1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | NR5A1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | TUBA1A | NA | C0026882 | NA | NA | orphanet |
| Mutations | TEX15 | NA | C0026882 | NA | NA | orphanet |
| Mutations | TEX14 | NA | C0026882 | NA | NA | orphanet |
| Mutations | TSHR | NA | C0026882 | NA | NA | orphanet |
| Mutations | DGAT2 | NA | C0026882 | NA | NA | orphanet |
| Mutations | RNU12 | NA | C0026882 | NA | NA | orphanet |
| Mutations | HSPD1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | IKZF1 | NA | C0026882 | NA | NA | orphanet |
| Mutations | TEX11 | NA | C0026882 | NA | NA | orphanet |
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