| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Dystrophies, Vitelliform Macular | BEST1 | disease | C0339510 | Biomarker | 1 | orphanet , disgenet |
| Dystrophies, Vitelliform Macular | BEST1 | disease | C0339510 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Dystrophies, Vitelliform Macular | BEST1 | disease | C0339510 | CausalMutation | 1 | orphanet , disgenet |
| Dystrophies, Vitelliform Macular | BEST1 | disease | C0339510 | GeneticVariation | 1 | orphanet , disgenet |
| Dystrophies, Vitelliform Macular | BEST1 | disease | C0339510 | AlteredExpression | 1 | orphanet , disgenet |
| Dystrophies, Vitelliform Macular | PRPH2 | disease | C0339510 | Biomarker | 0.43 | disgenet |
| Dystrophies, Vitelliform Macular | PRPH2 | disease | C0339510 | GeneticVariation | 0.43 | disgenet |
| Dystrophies, Vitelliform Macular | IMPG1 | disease | C0339510 | Biomarker | 0.33 | disgenet |
| Dystrophies, Vitelliform Macular | IMPG1 | disease | C0339510 | GeneticVariation | 0.33 | disgenet |
| Dystrophies, Vitelliform Macular | IMPG2 | disease | C0339510 | GeneticVariation | 0.31 | disgenet |
| Dystrophies, Vitelliform Macular | IMPG2 | disease | C0339510 | Biomarker | 0.31 | disgenet |
| Dystrophies, Vitelliform Macular | DMD | disease | C0339510 | GeneticVariation | 0.1 | disgenet |
| Dystrophies, Vitelliform Macular | DMD | disease | C0339510 | AlteredExpression | 0.1 | disgenet |
| Dystrophies, Vitelliform Macular | DMD | disease | C0339510 | Biomarker | 0.1 | disgenet |
| Dystrophies, Vitelliform Macular | FTH1 | disease | C0339510 | GeneticVariation | 0.1 | disgenet |
| Dystrophies, Vitelliform Macular | FTH1 | disease | C0339510 | CausalMutation | 0.1 | disgenet |
| Dystrophies, Vitelliform Macular | PLXNA2 | disease | C0339510 | GeneticVariation | 0.06 | disgenet |
| Dystrophies, Vitelliform Macular | PLXNA2 | disease | C0339510 | Biomarker | 0.06 | disgenet |
| Dystrophies, Vitelliform Macular | PYGM | disease | C0339510 | Biomarker | 0.04 | disgenet |
| Dystrophies, Vitelliform Macular | PYGM | disease | C0339510 | GeneticVariation | 0.04 | disgenet |
| Dystrophies, Vitelliform Macular | ROM1 | disease | C0339510 | Biomarker | 0.03 | disgenet |
| Dystrophies, Vitelliform Macular | ROM1 | disease | C0339510 | GeneticVariation | 0.03 | disgenet |
| Dystrophies, Vitelliform Macular | ABCA4 | disease | C0339510 | Biomarker | 0.02 | disgenet |
| Dystrophies, Vitelliform Macular | ABCA4 | disease | C0339510 | GeneticVariation | 0.02 | disgenet |
| Dystrophies, Vitelliform Macular | SCGB1A1 | disease | C0339510 | Biomarker | 0.02 | disgenet |
| Dystrophies, Vitelliform Macular | PTH | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | CPLANE1 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | PITPNM3 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | CTLA4 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SRSF5 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | BMPR2 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | DANCR | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | CREB1 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SALL1 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ERBB2 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | HSPB2 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SHBG | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | TIMP2 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | MAK | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SLC6A4 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | CPED1 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ALOX12 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | INTS2 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ASRGL1 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | MFRP | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | RSPO3 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | PRL | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | COL18A1 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | MS4A2 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | HSPB1 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ADAR | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ALPP | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | GUCA1A | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | PSMD4 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ATRNL1 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ACTB | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SRSF6 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | DDB1 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | WNT16 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | PDLIM3 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | RHO | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ACD | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | BMP6 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | UHMK1 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | CCL27 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | NAT10 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SRSF1 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SRSF2 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | UTRN | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ALOX15 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | HSPB3 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | MIR30C1 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ARSF | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | RPE | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | NOC2L | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | FGF3 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | C1QTNF5 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | TTN | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SRF | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | SLPI | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | RGN | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | DECR1 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | NOS1 | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | GNB3 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | MIR30C2 | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | GPT | disease | C0339510 | Biomarker | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ATHS | disease | C0339510 | AlteredExpression | 0.01 | disgenet |
| Dystrophies, Vitelliform Macular | ACVRL1 | disease | C0339510 | GeneticVariation | 0.01 | disgenet |
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