| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Diseases | HSPD1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CFAP70 | NA | C0012634 | NA | NA | orphanet |
| Diseases | MFSD8 | NA | C0012634 | NA | NA | orphanet |
| Diseases | GBE1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | HBG1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | HBG2 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CLN3 | NA | C0012634 | NA | NA | orphanet |
| Diseases | JUP | NA | C0012634 | NA | NA | orphanet |
| Diseases | CLN6 | NA | C0012634 | NA | NA | orphanet |
| Diseases | ACTL9 | NA | C0012634 | NA | NA | orphanet |
| Diseases | KLF1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | MYH9 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CYP11A1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | GJC2 | NA | C0012634 | NA | NA | orphanet |
| Diseases | RAD50 | NA | C0012634 | NA | NA | orphanet |
| Diseases | MRE11 | NA | C0012634 | NA | NA | orphanet |
| Diseases | PYGL | NA | C0012634 | NA | NA | orphanet |
| Diseases | PPT1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | BCL11A | NA | C0012634 | NA | NA | orphanet |
| Diseases | ITCH | NA | C0012634 | NA | NA | orphanet |
| Diseases | COQ9 | NA | C0012634 | NA | NA | orphanet |
| Diseases | TPP1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | DSP | NA | C0012634 | NA | NA | orphanet |
| Diseases | SEPTIN12 | NA | C0012634 | NA | NA | orphanet |
| Diseases | DNAH1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | PDE11A | NA | C0012634 | NA | NA | orphanet |
| Diseases | SLC26A8 | NA | C0012634 | NA | NA | orphanet |
| Diseases | DRC1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | PMPCA | NA | C0012634 | NA | NA | orphanet |
| Diseases | ARMC2 | NA | C0012634 | NA | NA | orphanet |
| Diseases | POR | NA | C0012634 | NA | NA | orphanet |
| Diseases | GRN | NA | C0012634 | NA | NA | orphanet |
| Diseases | PRKAR1A | NA | C0012634 | NA | NA | orphanet |
| Diseases | GYG1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CFAP65 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CFAP43 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CATSPER1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | FGFR2 | NA | C0012634 | NA | NA | orphanet |
| Diseases | HSD17B10 | NA | C0012634 | NA | NA | orphanet |
| Diseases | SPEF2 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CLN8 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CFAP69 | NA | C0012634 | NA | NA | orphanet |
| Diseases | TTC29 | NA | C0012634 | NA | NA | orphanet |
| Diseases | AIMP1 | NA | C0012634 | NA | NA | orphanet |
| Diseases | SPAG17 | NA | C0012634 | NA | NA | orphanet |
| Diseases | DNAJC5 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CARD11 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CDC42 | NA | C0012634 | NA | NA | orphanet |
| Diseases | PHKA2 | NA | C0012634 | NA | NA | orphanet |
| Diseases | PRKACA | NA | C0012634 | NA | NA | orphanet |
| Diseases | PHKG2 | NA | C0012634 | NA | NA | orphanet |
| Diseases | AK7 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CTSD | NA | C0012634 | NA | NA | orphanet |
| Diseases | CFAP44 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CTSF | NA | C0012634 | NA | NA | orphanet |
| Diseases | CBL | NA | C0012634 | NA | NA | orphanet |
| Diseases | FSIP2 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CLN5 | NA | C0012634 | NA | NA | orphanet |
| Diseases | HHAT | NA | C0012634 | NA | NA | orphanet |
| Diseases | AGL | NA | C0012634 | NA | NA | orphanet |
| Diseases | HBB | NA | C0012634 | NA | NA | orphanet |
| Diseases | TTC21A | NA | C0012634 | NA | NA | orphanet |
| Diseases | PDE8B | NA | C0012634 | NA | NA | orphanet |
| Diseases | DNAH17 | NA | C0012634 | NA | NA | orphanet |
| Diseases | CFAP251 | NA | C0012634 | NA | NA | orphanet |
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