Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Blindness | RPE65 | phenotype | C0456909 | GeneticVariation | 0.5 | disgenet |
Blindness | RPE65 | phenotype | C0456909 | Therapeutic | 0.5 | disgenet |
Blindness | RPE65 | phenotype | C0456909 | Biomarker | 0.5 | disgenet |
Blindness | LCA5 | phenotype | C0456909 | GeneticVariation | 0.32 | disgenet |
Blindness | LCA5 | phenotype | C0456909 | Biomarker | 0.32 | disgenet |
Blindness | ATIC | phenotype | C0456909 | Biomarker | 0.3 | disgenet |
Blindness | AIPL1 | phenotype | C0456909 | Biomarker | 0.2 | disgenet |
Blindness | AIPL1 | phenotype | C0456909 | GeneticVariation | 0.2 | disgenet |
Blindness | GUCY2D | phenotype | C0456909 | GeneticVariation | 0.2 | disgenet |
Blindness | GUCY2D | phenotype | C0456909 | Biomarker | 0.2 | disgenet |
Blindness | CEP290 | phenotype | C0456909 | Biomarker | 0.19 | disgenet |
Blindness | CEP290 | phenotype | C0456909 | GeneticVariation | 0.19 | disgenet |
Blindness | CEP290 | phenotype | C0456909 | CausalMutation | 0.19 | disgenet |
Blindness | RPGR | phenotype | C0456909 | GeneticVariation | 0.18 | disgenet |
Blindness | CLN3 | phenotype | C0456909 | AlteredExpression | 0.18 | disgenet |
Blindness | RPGR | phenotype | C0456909 | Biomarker | 0.18 | disgenet |
Blindness | CLN3 | phenotype | C0456909 | GeneticVariation | 0.18 | disgenet |
Blindness | CLN3 | phenotype | C0456909 | Biomarker | 0.18 | disgenet |
Blindness | RHO | phenotype | C0456909 | GeneticVariation | 0.17 | disgenet |
Blindness | RHO | phenotype | C0456909 | Biomarker | 0.17 | disgenet |
Blindness | RHO | phenotype | C0456909 | CausalMutation | 0.17 | disgenet |
Blindness | OAT | phenotype | C0456909 | Biomarker | 0.16 | disgenet |
Blindness | OAT | phenotype | C0456909 | GeneticVariation | 0.16 | disgenet |
Blindness | ABCA4 | phenotype | C0456909 | Biomarker | 0.15 | disgenet |
Blindness | ABCA4 | phenotype | C0456909 | CausalMutation | 0.15 | disgenet |
Blindness | ABCA4 | phenotype | C0456909 | GeneticVariation | 0.15 | disgenet |
Blindness | CRB1 | phenotype | C0456909 | Biomarker | 0.14 | disgenet |
Blindness | CRB1 | phenotype | C0456909 | GeneticVariation | 0.14 | disgenet |
Blindness | NLRP3 | phenotype | C0456909 | AlteredExpression | 0.13 | disgenet |
Blindness | NLRP3 | phenotype | C0456909 | GeneticVariation | 0.13 | disgenet |
Blindness | NLRP3 | phenotype | C0456909 | Biomarker | 0.13 | disgenet |
Blindness | PRCD | phenotype | C0456909 | Biomarker | 0.13 | disgenet |
Blindness | PRCD | phenotype | C0456909 | GeneticVariation | 0.13 | disgenet |
Blindness | CRX | phenotype | C0456909 | Biomarker | 0.13 | disgenet |
Blindness | CRX | phenotype | C0456909 | GeneticVariation | 0.13 | disgenet |
Blindness | LRAT | phenotype | C0456909 | GeneticVariation | 0.12 | disgenet |
Blindness | GUCA1B | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | RDH12 | phenotype | C0456909 | GeneticVariation | 0.12 | disgenet |
Blindness | PRPF31 | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | ALMS1 | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | PRPF31 | phenotype | C0456909 | GeneticVariation | 0.12 | disgenet |
Blindness | LRP5 | phenotype | C0456909 | GeneticVariation | 0.12 | disgenet |
Blindness | RDH12 | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | TIMP3 | phenotype | C0456909 | AlteredExpression | 0.12 | disgenet |
Blindness | SCN1A | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | NDUFS4 | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | TIMP3 | phenotype | C0456909 | GeneticVariation | 0.12 | disgenet |
Blindness | SCN1A | phenotype | C0456909 | GeneticVariation | 0.12 | disgenet |
Blindness | ALMS1 | phenotype | C0456909 | GeneticVariation | 0.12 | disgenet |
Blindness | LRAT | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | GUCA1B | phenotype | C0456909 | GeneticVariation | 0.12 | disgenet |
Blindness | TIMP3 | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | ALMS1 | phenotype | C0456909 | CausalMutation | 0.12 | disgenet |
Blindness | LRP5 | phenotype | C0456909 | Biomarker | 0.12 | disgenet |
Blindness | FAM161A | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | USH2A | phenotype | C0456909 | CausalMutation | 0.11 | disgenet |
Blindness | ATXN7 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | MFSD8 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | PRPH2 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | SEMA4A | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | AHR | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | SEMA4A | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | MFSD8 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | COL2A1 | phenotype | C0456909 | CausalMutation | 0.11 | disgenet |
Blindness | FAM161A | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | NDP | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | ATXN7 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | PRPH2 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | TULP1 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | PRPF8 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | AHI1 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | NDP | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | TULP1 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | SNRNP200 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | IL10 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | USH2A | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | COL2A1 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | AHI1 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | NR2E3 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | USH2A | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | NR2E3 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | CLRN1 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | CDHR1 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | PRPF8 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | COL2A1 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | CDHR1 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | IFT172 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | CAPN5 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | IMPDH1 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | IMPDH1 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | PROM1 | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | ND6 | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | KIZ | phenotype | C0456909 | Biomarker | 0.11 | disgenet |
Blindness | KIZ | phenotype | C0456909 | GeneticVariation | 0.11 | disgenet |
Blindness | IL12A | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFA1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PPT1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFS2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | VEGFA | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | OFD1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PGK1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | KLHL7 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFAF5 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ARL2BP | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CFH | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TMEM126B | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CFH | phenotype | C0456909 | GeneticVariation | 0.1 | disgenet |
Blindness | PRSS23 | phenotype | C0456909 | CausalMutation | 0.1 | disgenet |
Blindness | SLC52A2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ERAP1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | OPA3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | VEGFA | phenotype | C0456909 | GeneticVariation | 0.1 | disgenet |
Blindness | PROS1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFV1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFS7 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFB9 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PLG | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ADAMTS10 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SAG | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | POGZ | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SDHD | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFA6 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | RBP3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | BEST1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFAF3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SMARCB1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | MEFV | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SPATA7 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ITGA2B | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CNGA3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TNFSF11 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ND1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GP1BA | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TLR4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NF2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PDE6A | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PQBP1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | AIP | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GNAQ | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | B4GAT1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CCR1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PIK3R2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | HCCS | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | EFEMP1 | phenotype | C0456909 | GeneticVariation | 0.1 | disgenet |
Blindness | RP1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GALC | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PEX6 | phenotype | C0456909 | GeneticVariation | 0.1 | orphanet , disgenet |
Blindness | FOXRED1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | HEXB | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TMEM231 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ZNF423 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | HGSNAT | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | C4A | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GNAS | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FKTN | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFS1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ARL6 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | POMK | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TTC8 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CNGA1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | BCOR | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CTC1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | IL12A-AS1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFS3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FBN1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PDGFB | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | REEP6 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | KIF11 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TMEM216 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ARL3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | HLA-DRB1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFS8 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | POMGNT1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SUFU | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | POMT1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ZNF513 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PHIP | phenotype | C0456909 | CausalMutation | 0.1 | disgenet |
Blindness | POMT2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FLVCR1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | IFT140 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SLC24A1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GM2A | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CC2D2A | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TBC1D24 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SDHA | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FRAS1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GJB2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CA4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | DHX38 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PCARE | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | RP9 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PRPF4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | IRAK1BP1 | phenotype | C0456909 | CausalMutation | 0.1 | disgenet |
Blindness | NUBPL | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FSCN2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | DHDDS | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NRL | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TCIRG1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFAF2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TOPORS | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | B3GALNT2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ITGA2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDE1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | MEN1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TMEM67 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PMPCA | phenotype | C0456909 | CausalMutation | 0.1 | disgenet |
Blindness | UBAC2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | KLRC4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ITGB3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FZD4 | phenotype | C0456909 | CausalMutation | 0.1 | disgenet |
Blindness | EYS | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PEX6 | phenotype | C0456909 | Biomarker | 0.1 | orphanet , disgenet |
Blindness | SMCHD1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | HLA-B | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TUB | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | RGR | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | IL23R | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CNGB1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ROM1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ATRX | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TMEM237 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FREM2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | LAMB2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PITX3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | IDH3B | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GMPPB | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | BMP4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ZNF408 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PANK2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FZD4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | IMPG2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SCAPER | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TMEM138 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NAA10 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ASPA | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ATP1A3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFB11 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | KIAA1549 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CLCN7 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SDHB | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFAF1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GRIP1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GNAT1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | BBS2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | RP2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | C1QTNF5 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | POLG | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CERKL | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ABCD1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CDH23 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFV2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFB3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | RLBP1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFAF4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ARHGEF18 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PDE6G | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | KIF14 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFB10 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ARV1 | phenotype | C0456909 | GeneticVariation | 0.1 | disgenet |
Blindness | CDH3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ND2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFA11 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ATP6 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | WHRN | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PDE6B | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PRPF3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ACTB | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SLC7A14 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | GP1BB | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PLOD1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | TIMMDC1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | CD109 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ND3 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NLRC4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | ARNT2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FAS | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | BTNL2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | HEXA | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | C8orf37 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | SDHAF1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | STAT4 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NEK2 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | IFT88 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | MERTK | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | AGBL5 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | NDUFS6 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | MAK | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | IDH3A | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | FKRP | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | LARGE1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | COX7B | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | PRPF6 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | HPS1 | phenotype | C0456909 | Biomarker | 0.1 | disgenet |
Blindness | AMD1 | phenotype | C0456909 | Biomarker | 0.07 | disgenet |
Blindness | AMD1P2 | phenotype | C0456909 | Biomarker | 0.07 | disgenet |
Blindness | AMD1P2 | phenotype | C0456909 | GeneticVariation | 0.07 | disgenet |
Blindness | AMD1 | phenotype | C0456909 | GeneticVariation | 0.07 | disgenet |
Blindness | MYO7A | phenotype | C0456909 | GeneticVariation | 0.06 | disgenet |
Blindness | MYO7A | phenotype | C0456909 | Biomarker | 0.06 | disgenet |
Blindness | MYP2 | phenotype | C0456909 | GeneticVariation | 0.04 | disgenet |
Blindness | ELOVL4 | phenotype | C0456909 | Biomarker | 0.04 | disgenet |
Blindness | MYOC | phenotype | C0456909 | GeneticVariation | 0.04 | disgenet |
Blindness | ELOVL4 | phenotype | C0456909 | GeneticVariation | 0.04 | disgenet |
Blindness | CHM | phenotype | C0456909 | GeneticVariation | 0.04 | disgenet |
Blindness | CHM | phenotype | C0456909 | Biomarker | 0.04 | disgenet |
Blindness | MYP2 | phenotype | C0456909 | Biomarker | 0.04 | disgenet |
Blindness | MYOC | phenotype | C0456909 | AlteredExpression | 0.04 | disgenet |
Blindness | IQCB1 | phenotype | C0456909 | GeneticVariation | 0.03 | disgenet |
Blindness | NXNL1 | phenotype | C0456909 | GeneticVariation | 0.03 | disgenet |
Blindness | ARMS2 | phenotype | C0456909 | GeneticVariation | 0.03 | disgenet |
Blindness | NXNL1 | phenotype | C0456909 | Biomarker | 0.03 | disgenet |
Blindness | PTPRC | phenotype | C0456909 | GeneticVariation | 0.03 | disgenet |
Blindness | PTPRC | phenotype | C0456909 | Biomarker | 0.03 | disgenet |
Blindness | GCA | phenotype | C0456909 | Biomarker | 0.03 | disgenet |
Blindness | IQCB1 | phenotype | C0456909 | Biomarker | 0.03 | disgenet |
Blindness | RS1 | phenotype | C0456909 | GeneticVariation | 0.03 | disgenet |
Blindness | NXNL1 | phenotype | C0456909 | AlteredExpression | 0.03 | disgenet |
Blindness | SLC4A11 | phenotype | C0456909 | GeneticVariation | 0.03 | disgenet |
Blindness | SLC4A11 | phenotype | C0456909 | AlteredExpression | 0.03 | disgenet |
Blindness | CLTA | phenotype | C0456909 | Biomarker | 0.03 | disgenet |
Blindness | CLTA | phenotype | C0456909 | GeneticVariation | 0.03 | disgenet |
Blindness | NUB1 | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | REN | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | TP63 | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | OPA1 | phenotype | C0456909 | AlteredExpression | 0.02 | disgenet |
Blindness | IL6 | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | REN | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | TBK1 | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | TYR | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | CLU | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | GFAP | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | RPE | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | GFAP | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | OPA1 | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | TP63 | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | GUCA1A | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | PNPLA6 | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | RPE | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | SOX2 | phenotype | C0456909 | AlteredExpression | 0.02 | disgenet |
Blindness | HIF1A | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | PLXNA2 | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | INS | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | HTRA1 | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | MOG | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | NMNAT1 | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | INS | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | STAT1 | phenotype | C0456909 | Biomarker | 0.02 | disgenet |
Blindness | OPTN | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | KCNJ13 | phenotype | C0456909 | GeneticVariation | 0.02 | disgenet |
Blindness | DHX16 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | RABGEF1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | WDR36 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | IDUA | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | MS4A1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | MIR144 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | BRCA1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | MLRL | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | TERF2IP | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | RPSA | phenotype | C0456909 | AlteredExpression | 0.01 | disgenet |
Blindness | ATP6V1H | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | STAT3 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CRYBB1 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | CRB2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | RPS27 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CSF2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | TCF21 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | NCL | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | LINC-ROR | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | SLC25A22 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | SLC4A3 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | PAX6 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | MPEG1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ROS1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CACNA1C | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | ATF6 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | FBLN5 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | SOCS3 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | RAP1A | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | BSG | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CCR3 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | TFPI | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CRYGS | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | EPO | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | HSPB3 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | HDAC6 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | MCDR1 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | TTR | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | MAPT | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | ROCK2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | MCOLN1 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | CLN5 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CORO7 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CNTLN | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | BDNF | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | RD3 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CKAP4 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | UHRF1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | AHSG | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CGAS | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ADORA2A | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ABCG2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | FGF2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ATF6B | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | CD80 | phenotype | C0456909 | AlteredExpression | 0.01 | disgenet |
Blindness | ASRGL1 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | ATOH7 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | SETD2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | MIR132 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | SLC4A4 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | SERPINF1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ABCG1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ABHD12 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | NOS1 | phenotype | C0456909 | AlteredExpression | 0.01 | disgenet |
Blindness | CHML | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | OLFM4 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | SST | phenotype | C0456909 | AlteredExpression | 0.01 | disgenet |
Blindness | ALDH1A1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | TTK | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | PCDH15 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CRYBB2 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | CASP4 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | MPI | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | RPF2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CDKN2B-AS1 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | STARD9 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | CYP1B1 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | CCDC102B | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | DICER1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | SUCNR1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CLC | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | AVP | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | IRAK1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ARL13B | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CES1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | TST | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | ERG | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ALPG | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | PPARGC1A | phenotype | C0456909 | AlteredExpression | 0.01 | disgenet |
Blindness | LCN2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | SIX6 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | ACKR1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | MASP1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | RBP4 | phenotype | C0456909 | AlteredExpression | 0.01 | disgenet |
Blindness | EPHX2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CLCN3 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | CEP78 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | TIMM8A | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | DPYSL5 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | CLN6 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | KRT20 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | UVRAG | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | LAMC2 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | FOXC1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | TGFB1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | FHL1 | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | FASN | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | PDC | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | PLTP | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | TNFRSF14 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | ARG2 | phenotype | C0456909 | AlteredExpression | 0.01 | disgenet |
Blindness | USH1C | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | NEO1 | phenotype | C0456909 | Biomarker | 0.01 | disgenet |
Blindness | VCP | phenotype | C0456909 | GeneticVariation | 0.01 | disgenet |
Blindness | UCHL1 | NA | C0456909 | NA | NA | orphanet |
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