| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Amaurosis congenita of Leber, type 1 | GUCY2D | disease | C2931258 | AlteredExpression | 1 | disgenet |
| Amaurosis congenita of Leber, type 1 | GUCY2D | disease | C2931258 | CausalMutation | 1 | disgenet |
| Amaurosis congenita of Leber, type 1 | GUCY2D | disease | C2931258 | GeneticVariation | 1 | disgenet |
| Amaurosis congenita of Leber, type 1 | GUCY2D | disease | C2931258 | Biomarker | 1 | disgenet |
| Amaurosis congenita of Leber, type 1 | RPGRIP1 | disease | C2931258 | GeneticVariation | 0.2 | disgenet |
| Amaurosis congenita of Leber, type 1 | RPGRIP1 | disease | C2931258 | Biomarker | 0.2 | disgenet |
| Amaurosis congenita of Leber, type 1 | RPGRIP1 | disease | C2931258 | CausalMutation | 0.2 | disgenet |
| Amaurosis congenita of Leber, type 1 | CRB1 | disease | C2931258 | GeneticVariation | 0.2 | disgenet |
| Amaurosis congenita of Leber, type 1 | CRB1 | disease | C2931258 | Biomarker | 0.2 | disgenet |
| Amaurosis congenita of Leber, type 1 | CRB1 | disease | C2931258 | CausalMutation | 0.2 | disgenet |
| Amaurosis congenita of Leber, type 1 | TULP1 | disease | C2931258 | CausalMutation | 0.14 | disgenet |
| Amaurosis congenita of Leber, type 1 | TULP1 | disease | C2931258 | GeneticVariation | 0.14 | disgenet |
| Amaurosis congenita of Leber, type 1 | LCA5 | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | RDH12 | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | RPE65 | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | CRX | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | AIPL1 | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | PTPRC | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | AIPL1 | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | RPE65 | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | CLTA | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | CLTA | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | CRX | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | LCA5 | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | CEP290 | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | CEP290 | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | NMNAT1 | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | NMNAT1 | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | IQCB1 | disease | C2931258 | GeneticVariation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | PTPRC | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | PROM1 | disease | C2931258 | CausalMutation | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | RDH12 | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | IQCB1 | disease | C2931258 | Biomarker | 0.1 | disgenet |
| Amaurosis congenita of Leber, type 1 | SPATA7 | disease | C2931258 | Biomarker | 0.06 | disgenet |
| Amaurosis congenita of Leber, type 1 | SPATA7 | disease | C2931258 | GeneticVariation | 0.06 | disgenet |
| Amaurosis congenita of Leber, type 1 | LRAT | disease | C2931258 | GeneticVariation | 0.05 | disgenet |
| Amaurosis congenita of Leber, type 1 | LRAT | disease | C2931258 | Biomarker | 0.05 | disgenet |
| Amaurosis congenita of Leber, type 1 | KCNJ13 | disease | C2931258 | GeneticVariation | 0.04 | disgenet |
| Amaurosis congenita of Leber, type 1 | MERTK | disease | C2931258 | GeneticVariation | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | IMPDH1 | disease | C2931258 | GeneticVariation | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | RD3 | disease | C2931258 | GeneticVariation | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | RPE | disease | C2931258 | AlteredExpression | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | RD3 | disease | C2931258 | Biomarker | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | CRB2 | disease | C2931258 | GeneticVariation | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | RPE | disease | C2931258 | GeneticVariation | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | CRB2 | disease | C2931258 | Biomarker | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | RHO | disease | C2931258 | Biomarker | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | CCT2 | disease | C2931258 | GeneticVariation | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | CXCL8 | disease | C2931258 | Biomarker | 0.02 | disgenet |
| Amaurosis congenita of Leber, type 1 | SORD | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | IL6 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | MS4A1 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | BEST1 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | IFT140 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | MYO7A | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | PRPH2 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | OTX2 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | NUB1 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | HTC2 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | SLC25A22 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | NYX | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | ERBB2 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | TUB | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | GNAT2 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | DIO3 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | MYCN | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | CABP4 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | POC1B | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | CTNNA1 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | GUCA1A | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | GRB10 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | SH2D3A | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | NR2E3 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | PCYT1B | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | CACNA1F | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | MITF | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | CNGA3 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | RHEB | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | CYP4V2 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | BCL6 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | CYP3A4 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | TNF | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | RBP3 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | TUBB4B | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | GFAP | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | CNTLN | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | AHI1 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | IRF1 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | NRL | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | FUT4 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | LOH19CR1 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | RPS19 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | SQSTM1 | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | LCA10 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | KRT20 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | GUCA2A | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | GRK1 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | TNFRSF8 | disease | C2931258 | Biomarker | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | SLC16A12 | disease | C2931258 | PosttranslationalModification | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | PDE6B | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | MEF2C | disease | C2931258 | AlteredExpression | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | MPP5 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | SLC7A14 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| Amaurosis congenita of Leber, type 1 | OLFM4 | disease | C2931258 | GeneticVariation | 0.01 | disgenet |
| click here to return to the previous page | ||||||