Disease Information | ||||||
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Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Aniridia | PAX6 | disease | C0003076 | CausalMutation | 1 | orphanet , disgenet |
Aniridia | PAX6 | disease | C0003076 | Biomarker | 1 | orphanet , disgenet |
Aniridia | PAX6 | disease | C0003076 | GermlineCausalMutation | 1 | orphanet , disgenet |
Aniridia | PAX6 | disease | C0003076 | GeneticVariation | 1 | orphanet , disgenet |
Aniridia | PAX6 | disease | C0003076 | AlteredExpression | 1 | orphanet , disgenet |
Aniridia | TRIM44 | disease | C0003076 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
Aniridia | TRIM44 | disease | C0003076 | AlteredExpression | 0.61 | orphanet , disgenet |
Aniridia | TRIM44 | disease | C0003076 | Biomarker | 0.61 | orphanet , disgenet |
Aniridia | WT1 | disease | C0003076 | Biomarker | 0.48 | disgenet |
Aniridia | WT1 | disease | C0003076 | GeneticVariation | 0.48 | disgenet |
Aniridia | FOXC1 | disease | C0003076 | Biomarker | 0.44 | orphanet , disgenet |
Aniridia | FOXC1 | disease | C0003076 | GermlineCausalMutation | 0.44 | orphanet , disgenet |
Aniridia | FOXC1 | disease | C0003076 | GeneticVariation | 0.44 | orphanet , disgenet |
Aniridia | ELP4 | disease | C0003076 | GeneticVariation | 0.43 | disgenet |
Aniridia | ELP4 | disease | C0003076 | Biomarker | 0.43 | disgenet |
Aniridia | ELP4 | disease | C0003076 | CausalMutation | 0.43 | disgenet |
Aniridia | FOXD3 | disease | C0003076 | Biomarker | 0.3 | disgenet |
Aniridia | PITX2 | disease | C0003076 | GeneticVariation | 0.15 | disgenet |
Aniridia | PITX2 | disease | C0003076 | Biomarker | 0.15 | disgenet |
Aniridia | FOXE3 | disease | C0003076 | GeneticVariation | 0.11 | disgenet |
Aniridia | FOXE3 | disease | C0003076 | Biomarker | 0.11 | disgenet |
Aniridia | COL25A1 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | DIS3L2 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | TMEM127 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | DLX5 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | SDHB | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | DLST | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | SEM1 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | BTRC | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | LDHD | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | PORCN | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | TRIM28 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | SDHA | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | REST | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | TP63 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | DLX6 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | BRCA2 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | KIF1B | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | MDH2 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | EPS15L1 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | SDHD | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | FH | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | VHL | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | SLC25A11 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | CHN1 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | TRIP13 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | ITPR1 | disease | C0003076 | Biomarker | 0.1 | orphanet , disgenet |
Aniridia | GPC3 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | FAM111A | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | SDHAF2 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | WNT10B | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | MAX | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | MAFB | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | POU6F2 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | RET | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | SDHC | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | H19 | disease | C0003076 | Biomarker | 0.1 | disgenet |
Aniridia | CAT | disease | C0003076 | GeneticVariation | 0.09 | disgenet |
Aniridia | CAT | disease | C0003076 | AlteredExpression | 0.09 | disgenet |
Aniridia | CAT | disease | C0003076 | Biomarker | 0.09 | disgenet |
Aniridia | DEL11P13 | disease | C0003076 | Biomarker | 0.07 | disgenet |
Aniridia | DEL11P13 | disease | C0003076 | GeneticVariation | 0.07 | disgenet |
Aniridia | ACP1 | disease | C0003076 | Biomarker | 0.03 | disgenet |
Aniridia | ACP1 | disease | C0003076 | GeneticVariation | 0.03 | disgenet |
Aniridia | PAX3 | disease | C0003076 | GeneticVariation | 0.02 | disgenet |
Aniridia | CYP1B1 | disease | C0003076 | GeneticVariation | 0.02 | disgenet |
Aniridia | HRAS | disease | C0003076 | Biomarker | 0.02 | disgenet |
Aniridia | HRAS | disease | C0003076 | GeneticVariation | 0.02 | disgenet |
Aniridia | NR2E1 | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | SLURP1 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | PHF21A | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | ALDH1A1 | disease | C0003076 | AlteredExpression | 0.01 | disgenet |
Aniridia | OTX2 | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | SIX6 | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | RIEG2 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | KIF21A | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | BCR | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | NRAS | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | MTOR | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | WT1-AS | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | ARSD | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | APOB | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | CTNNB1 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | CCL3 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | SERPINB1 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | NOTCH1 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | ADH7 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | PAX2 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | OCA2 | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | EGF | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | DCPS | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | LGR4 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | ATP2A2 | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | KRT12 | disease | C0003076 | AlteredExpression | 0.01 | disgenet |
Aniridia | CXCL8 | disease | C0003076 | AlteredExpression | 0.01 | disgenet |
Aniridia | RASSF7 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | DEL11P13 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | RN7SL263P | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | GPR143 | disease | C0003076 | GeneticVariation | 0.01 | disgenet |
Aniridia | FGF2 | disease | C0003076 | Biomarker | 0.01 | disgenet |
Aniridia | VEGFA | disease | C0003076 | AlteredExpression | 0.01 | disgenet |
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