| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Degeneration, Retinal | RPE65 | phenotype | C0035304 | CausalMutation | 0.6 | disgenet |
| Degeneration, Retinal | RPE65 | phenotype | C0035304 | Biomarker | 0.6 | disgenet |
| Degeneration, Retinal | NMNAT1 | phenotype | C0035304 | Biomarker | 0.5 | disgenet |
| Degeneration, Retinal | BCL2 | phenotype | C0035304 | Therapeutic | 0.5 | disgenet |
| Degeneration, Retinal | BCL2 | phenotype | C0035304 | Biomarker | 0.5 | disgenet |
| Degeneration, Retinal | C1QTNF5 | phenotype | C0035304 | Biomarker | 0.42 | disgenet |
| Degeneration, Retinal | CP | phenotype | C0035304 | Biomarker | 0.4 | disgenet |
| Degeneration, Retinal | GDNF | phenotype | C0035304 | Therapeutic | 0.31 | disgenet |
| Degeneration, Retinal | RPGR | phenotype | C0035304 | Biomarker | 0.31 | disgenet |
| Degeneration, Retinal | GDNF | phenotype | C0035304 | Biomarker | 0.31 | disgenet |
| Degeneration, Retinal | SOD1 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | RDH12 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | SOD1 | phenotype | C0035304 | Therapeutic | 0.3 | disgenet |
| Degeneration, Retinal | CX3CR1 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | RAX2 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | SLC1A1 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | CRX | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | RHO | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | CCL2 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | IFT80 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | ARG2 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | RPGRIP1L | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | NRL | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | PDE6B | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | AHI1 | phenotype | C0035304 | Biomarker | 0.3 | disgenet |
| Degeneration, Retinal | NOS3 | phenotype | C0035304 | Biomarker | 0.2 | disgenet |
| Degeneration, Retinal | DMD | phenotype | C0035304 | ModifyingMutation | 0.2 | disgenet |
| Degeneration, Retinal | NOS3 | phenotype | C0035304 | Therapeutic | 0.2 | disgenet |
| Degeneration, Retinal | C3 | phenotype | C0035304 | Biomarker | 0.2 | disgenet |
| Degeneration, Retinal | CFH | phenotype | C0035304 | Biomarker | 0.2 | disgenet |
| Degeneration, Retinal | BDNF | phenotype | C0035304 | Therapeutic | 0.2 | disgenet |
| Degeneration, Retinal | CFB | phenotype | C0035304 | Therapeutic | 0.2 | disgenet |
| Degeneration, Retinal | CLU | phenotype | C0035304 | Therapeutic | 0.2 | disgenet |
| Degeneration, Retinal | BAX | phenotype | C0035304 | Biomarker | 0.2 | disgenet |
| Degeneration, Retinal | MERTK | phenotype | C0035304 | Therapeutic | 0.2 | disgenet |
| Degeneration, Retinal | CRYGC | phenotype | C0035304 | Biomarker | 0.2 | disgenet |
| Degeneration, Retinal | KCNJ10 | phenotype | C0035304 | Biomarker | 0.2 | disgenet |
| Degeneration, Retinal | OFD1 | phenotype | C0035304 | Biomarker | 0.2 | disgenet |
| Degeneration, Retinal | TULP1 | phenotype | C0035304 | Biomarker | 0.11 | disgenet |
| Degeneration, Retinal | TULP1 | phenotype | C0035304 | GeneticVariation | 0.11 | disgenet |
| Degeneration, Retinal | TULP1 | phenotype | C0035304 | CausalMutation | 0.11 | disgenet |
| Degeneration, Retinal | BBS1 | phenotype | C0035304 | Biomarker | 0.11 | disgenet |
| Degeneration, Retinal | SCN3A | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CLTC | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | MICOS13 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | FGF12 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | IFT172 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | NUS1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | LZTFL1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | YWHAG | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | FTL | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | KCNA2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | APOB | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | KCNB1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | PEX7 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CWC27 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | HSD17B10 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | WRN | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | GABRG2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | POMGNT1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | GNB5 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CTNNB1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | AARS1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | TPP1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | HCN1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SUMF1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | EEF1A2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | LMNA | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | ATP6V1A | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | TMEM67 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | GABRB2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | PNPLA6 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | BBS4 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | TUBB4B | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | MCOLN1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | BBS2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | DHDDS | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CYFIP2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | PARS2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | GRIN2D | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | PANK2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CACNA1A | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CACNA1B | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CEP164 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CLN6 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SLC19A2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | USP45 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SCN8A | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SDCCAG8 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CNKSR2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | PPP3CA | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | STXBP1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CFAP410 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | POMK | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CLN5 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | WWOX | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SYNJ1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SLC1A2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | MAN2B1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SLC13A5 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | NECAP1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | MAB21L1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | NTRK2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | GNPTAB | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CCDC28B | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | UBA5 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | AP3B2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | OPA1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | ARV1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | ACTL6B | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | MTTP | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | DNM1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | CYP4V2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | PRPF4 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SZT2 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | PHYH | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | TTC21B | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | PRPF8 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | TRAK1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | SYNGAP1 | phenotype | C0035304 | Biomarker | 0.1 | disgenet |
| Degeneration, Retinal | NR2E3 | phenotype | C0035304 | GeneticVariation | 0.02 | disgenet |
| Degeneration, Retinal | CERKL | phenotype | C0035304 | GeneticVariation | 0.02 | disgenet |
| Degeneration, Retinal | NR2E3 | phenotype | C0035304 | Biomarker | 0.02 | disgenet |
| Degeneration, Retinal | MFRP | phenotype | C0035304 | GeneticVariation | 0.02 | disgenet |
| Degeneration, Retinal | PITPNM1 | phenotype | C0035304 | Biomarker | 0.02 | disgenet |
| Degeneration, Retinal | PITPNM1 | phenotype | C0035304 | GeneticVariation | 0.02 | disgenet |
| Degeneration, Retinal | MFRP | phenotype | C0035304 | Biomarker | 0.02 | disgenet |
| Degeneration, Retinal | IMPDH1 | phenotype | C0035304 | GeneticVariation | 0.01 | disgenet |
| Degeneration, Retinal | NPHP1 | phenotype | C0035304 | Biomarker | 0.01 | disgenet |
| Degeneration, Retinal | RGR | phenotype | C0035304 | GeneticVariation | 0.01 | disgenet |
| Degeneration, Retinal | CD36 | phenotype | C0035304 | Biomarker | 0.01 | disgenet |
| Degeneration, Retinal | ATXN7 | phenotype | C0035304 | AlteredExpression | 0.01 | disgenet |
| Degeneration, Retinal | CNTF | phenotype | C0035304 | Biomarker | 0.01 | disgenet |
| Degeneration, Retinal | PRPF3 | phenotype | C0035304 | GeneticVariation | 0.01 | disgenet |
| Degeneration, Retinal | RRH | phenotype | C0035304 | Biomarker | 0.01 | disgenet |
| Degeneration, Retinal | ACO2 | NA | C0035304 | NA | NA | orphanet |
| Degeneration, Retinal | PISD | NA | C0035304 | NA | NA | orphanet |
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