| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Optic Atrophy, Autosomal Dominant | OPA1 | disease | C0338508 | Biomarker | 0.8 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | OPA1 | disease | C0338508 | AlteredExpression | 0.8 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | OPA1 | disease | C0338508 | CausalMutation | 0.8 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | OPA1 | disease | C0338508 | GeneticVariation | 0.8 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | DNM1L | disease | C0338508 | GermlineCausalMutation | 0.4 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | DNM1L | disease | C0338508 | AlteredExpression | 0.4 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | DNM1L | disease | C0338508 | GeneticVariation | 0.4 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | DNM1L | disease | C0338508 | PosttranslationalModification | 0.4 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | DNM1L | disease | C0338508 | Biomarker | 0.4 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | OPA3 | disease | C0338508 | Biomarker | 0.37 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | OPA3 | disease | C0338508 | GeneticVariation | 0.37 | orphanet , disgenet |
| Optic Atrophy, Autosomal Dominant | MFN1 | disease | C0338508 | Biomarker | 0.1 | disgenet |
| Optic Atrophy, Autosomal Dominant | MFN2 | disease | C0338508 | Biomarker | 0.1 | disgenet |
| Optic Atrophy, Autosomal Dominant | MFN2 | disease | C0338508 | GeneticVariation | 0.1 | disgenet |
| Optic Atrophy, Autosomal Dominant | MFN2 | disease | C0338508 | AlteredExpression | 0.1 | disgenet |
| Optic Atrophy, Autosomal Dominant | MFN1 | disease | C0338508 | GeneticVariation | 0.1 | disgenet |
| Optic Atrophy, Autosomal Dominant | MFN1 | disease | C0338508 | AlteredExpression | 0.1 | disgenet |
| Optic Atrophy, Autosomal Dominant | UTRN | disease | C0338508 | PosttranslationalModification | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | FIS1 | disease | C0338508 | GeneticVariation | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | DENR | disease | C0338508 | AlteredExpression | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | CRMP1 | disease | C0338508 | AlteredExpression | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | FIS1 | disease | C0338508 | AlteredExpression | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | DENR | disease | C0338508 | PosttranslationalModification | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | CRMP1 | disease | C0338508 | PosttranslationalModification | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | UTRN | disease | C0338508 | AlteredExpression | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | DENR | disease | C0338508 | Biomarker | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | DAPK2 | disease | C0338508 | Biomarker | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | UTRN | disease | C0338508 | Biomarker | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | DAPK2 | disease | C0338508 | PosttranslationalModification | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | OMA1 | disease | C0338508 | AlteredExpression | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | CRMP1 | disease | C0338508 | Biomarker | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | FIS1 | disease | C0338508 | Biomarker | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | DAPK2 | disease | C0338508 | AlteredExpression | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | OMA1 | disease | C0338508 | Biomarker | 0.06 | disgenet |
| Optic Atrophy, Autosomal Dominant | IMMT | disease | C0338508 | Biomarker | 0.04 | disgenet |
| Optic Atrophy, Autosomal Dominant | SIRT3 | disease | C0338508 | Biomarker | 0.04 | disgenet |
| Optic Atrophy, Autosomal Dominant | IMMT | disease | C0338508 | GeneticVariation | 0.04 | disgenet |
| Optic Atrophy, Autosomal Dominant | YME1L1 | disease | C0338508 | Biomarker | 0.03 | disgenet |
| Optic Atrophy, Autosomal Dominant | YME1L1 | disease | C0338508 | AlteredExpression | 0.03 | disgenet |
| Optic Atrophy, Autosomal Dominant | MED12 | disease | C0338508 | GeneticVariation | 0.03 | disgenet |
| Optic Atrophy, Autosomal Dominant | MED12 | disease | C0338508 | Biomarker | 0.03 | disgenet |
| Optic Atrophy, Autosomal Dominant | MFF | disease | C0338508 | Biomarker | 0.03 | disgenet |
| Optic Atrophy, Autosomal Dominant | MFF | disease | C0338508 | AlteredExpression | 0.03 | disgenet |
| Optic Atrophy, Autosomal Dominant | PRKAA1 | disease | C0338508 | AlteredExpression | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PRKAB1 | disease | C0338508 | Biomarker | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | GSTM1 | disease | C0338508 | GeneticVariation | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PPARG | disease | C0338508 | Biomarker | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PRKAA2 | disease | C0338508 | AlteredExpression | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PRKAA2 | disease | C0338508 | Biomarker | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PPARGC1A | disease | C0338508 | AlteredExpression | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | LEP | disease | C0338508 | AlteredExpression | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | SLC14A1 | disease | C0338508 | GeneticVariation | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | GSTM1 | disease | C0338508 | Biomarker | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | WFS1 | disease | C0338508 | GeneticVariation | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | FXN | disease | C0338508 | Biomarker | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PPARG | disease | C0338508 | AlteredExpression | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | KIF1B | disease | C0338508 | Biomarker | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | OPA5 | disease | C0338508 | GeneticVariation | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PRKAB1 | disease | C0338508 | AlteredExpression | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | KIF1B | disease | C0338508 | GeneticVariation | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | FXN | disease | C0338508 | GeneticVariation | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | NFE2L2 | disease | C0338508 | AlteredExpression | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PPARGC1A | disease | C0338508 | Biomarker | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | SSBP1 | disease | C0338508 | GeneticVariation | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | PRKAA1 | disease | C0338508 | Biomarker | 0.02 | disgenet |
| Optic Atrophy, Autosomal Dominant | ACO2 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | MTPAP | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | COX8A | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | AFM | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CYC1 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | MAD2L1BP | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | TP53BP1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PKLR | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | VEGFA | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | MRPS30 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | GSTT1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | OPA4 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CCDC50 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | SDHA | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | MAPK1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CAST | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | FGF21 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CDKN1A | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | ELAVL1 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | ACP3 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PLIN1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CYP1B1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PAPOLA | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CDK5R1 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | SQSTM1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | BNIP3 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | SEMA6A | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | BECN1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | REG3A | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CNR2 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | SOD1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | NDUFV2 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | EPHB2 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | BGLAP | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PDAP1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | TPPP | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | GABARAPL1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | ASAP2 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CTRL | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | TFB2M | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | MAP1LC3B | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CDH1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | HRES1 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | DGKG | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | TUSC2 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | TREH | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | AKAP1 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CAV1 | disease | C0338508 | PosttranslationalModification | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | BCL2 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CAPN1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | H2AX | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | GABPA | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CPOX | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | HES1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | APTX | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | COX5A | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | OPA8 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PHLDA2 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | OPTN | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PACC1 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | TOMM70 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | ADCK1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CEACAM1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | MUL1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | MYC | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | LAMP1 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | TOMM40 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | SLC5A1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PGAM5 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | MCU | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CLDN5 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | KEAP1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | NOS3 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | SPG7 | disease | C0338508 | GeneticVariation | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PHB2 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | YAP1 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | TMED9 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | ERG | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PRKCA | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PLXNA2 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | NRF1 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | BNIP3L | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | NFE2L1 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | LCN2 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | PINK1 | disease | C0338508 | AlteredExpression | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | CD274 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| Optic Atrophy, Autosomal Dominant | ASAP1 | disease | C0338508 | Biomarker | 0.01 | disgenet |
| click here to return to the previous page | ||||||