| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Amelogenesis Imperfecta | ENAM | disease | C0002452 | PosttranslationalModification | 0.7 | disgenet |
| Amelogenesis Imperfecta | ENAM | disease | C0002452 | Biomarker | 0.7 | disgenet |
| Amelogenesis Imperfecta | ENAM | disease | C0002452 | GeneticVariation | 0.7 | disgenet |
| Amelogenesis Imperfecta | LTBP3 | disease | C0002452 | Biomarker | 0.62 | orphanet , disgenet |
| Amelogenesis Imperfecta | LTBP3 | disease | C0002452 | GeneticVariation | 0.62 | orphanet , disgenet |
| Amelogenesis Imperfecta | FAM83H | disease | C0002452 | GeneticVariation | 0.5 | orphanet , disgenet |
| Amelogenesis Imperfecta | FAM83H | disease | C0002452 | Biomarker | 0.5 | orphanet , disgenet |
| Amelogenesis Imperfecta | FAM83H | disease | C0002452 | AlteredExpression | 0.5 | orphanet , disgenet |
| Amelogenesis Imperfecta | AMTN | disease | C0002452 | Biomarker | 0.42 | orphanet , disgenet |
| Amelogenesis Imperfecta | AMTN | disease | C0002452 | GeneticVariation | 0.42 | orphanet , disgenet |
| Amelogenesis Imperfecta | MMP20 | disease | C0002452 | GeneticVariation | 0.4 | disgenet |
| Amelogenesis Imperfecta | MMP20 | disease | C0002452 | AlteredExpression | 0.4 | disgenet |
| Amelogenesis Imperfecta | MMP20 | disease | C0002452 | Biomarker | 0.4 | disgenet |
| Amelogenesis Imperfecta | PEX1 | disease | C0002452 | Biomarker | 0.4 | disgenet |
| Amelogenesis Imperfecta | WDR72 | disease | C0002452 | GeneticVariation | 0.38 | disgenet |
| Amelogenesis Imperfecta | WDR72 | disease | C0002452 | Biomarker | 0.38 | disgenet |
| Amelogenesis Imperfecta | TUFT1 | disease | C0002452 | GeneticVariation | 0.33 | disgenet |
| Amelogenesis Imperfecta | COL17A1 | disease | C0002452 | GeneticVariation | 0.33 | disgenet |
| Amelogenesis Imperfecta | COL17A1 | disease | C0002452 | Biomarker | 0.33 | disgenet |
| Amelogenesis Imperfecta | TUFT1 | disease | C0002452 | Biomarker | 0.33 | disgenet |
| Amelogenesis Imperfecta | RELT | disease | C0002452 | GeneticVariation | 0.32 | disgenet |
| Amelogenesis Imperfecta | RELT | disease | C0002452 | Biomarker | 0.32 | disgenet |
| Amelogenesis Imperfecta | LAMC2 | disease | C0002452 | Biomarker | 0.3 | disgenet |
| Amelogenesis Imperfecta | ITGB4 | disease | C0002452 | Biomarker | 0.3 | disgenet |
| Amelogenesis Imperfecta | KCNJ1 | disease | C0002452 | Biomarker | 0.3 | disgenet |
| Amelogenesis Imperfecta | TMEM165 | disease | C0002452 | Biomarker | 0.3 | disgenet |
| Amelogenesis Imperfecta | PEX26 | disease | C0002452 | Biomarker | 0.3 | disgenet |
| Amelogenesis Imperfecta | AMELY | disease | C0002452 | Biomarker | 0.2 | disgenet |
| Amelogenesis Imperfecta | AMBN | disease | C0002452 | GeneticVariation | 0.2 | disgenet |
| Amelogenesis Imperfecta | AMELX | disease | C0002452 | GeneticVariation | 0.2 | disgenet |
| Amelogenesis Imperfecta | AMBN | disease | C0002452 | Biomarker | 0.2 | disgenet |
| Amelogenesis Imperfecta | AMELX | disease | C0002452 | Biomarker | 0.2 | disgenet |
| Amelogenesis Imperfecta | KLK4 | disease | C0002452 | GeneticVariation | 0.19 | disgenet |
| Amelogenesis Imperfecta | KLK4 | disease | C0002452 | Biomarker | 0.19 | disgenet |
| Amelogenesis Imperfecta | KLK4 | disease | C0002452 | CausalMutation | 0.19 | disgenet |
| Amelogenesis Imperfecta | FAM20A | disease | C0002452 | Biomarker | 0.18 | disgenet |
| Amelogenesis Imperfecta | FAM20A | disease | C0002452 | GeneticVariation | 0.18 | disgenet |
| Amelogenesis Imperfecta | DLX3 | disease | C0002452 | CausalMutation | 0.17 | disgenet |
| Amelogenesis Imperfecta | DLX3 | disease | C0002452 | Biomarker | 0.17 | disgenet |
| Amelogenesis Imperfecta | DLX3 | disease | C0002452 | GeneticVariation | 0.17 | disgenet |
| Amelogenesis Imperfecta | LAMB3 | disease | C0002452 | CausalMutation | 0.15 | disgenet |
| Amelogenesis Imperfecta | LAMB3 | disease | C0002452 | Biomarker | 0.15 | disgenet |
| Amelogenesis Imperfecta | CNNM4 | disease | C0002452 | CausalMutation | 0.15 | disgenet |
| Amelogenesis Imperfecta | LAMB3 | disease | C0002452 | GeneticVariation | 0.15 | disgenet |
| Amelogenesis Imperfecta | CNNM4 | disease | C0002452 | Biomarker | 0.15 | disgenet |
| Amelogenesis Imperfecta | CNNM4 | disease | C0002452 | GeneticVariation | 0.15 | disgenet |
| Amelogenesis Imperfecta | ITGB6 | disease | C0002452 | Biomarker | 0.14 | orphanet , disgenet |
| Amelogenesis Imperfecta | ITGB6 | disease | C0002452 | GeneticVariation | 0.14 | orphanet , disgenet |
| Amelogenesis Imperfecta | ODAPH | disease | C0002452 | GeneticVariation | 0.12 | disgenet |
| Amelogenesis Imperfecta | ORAI1 | disease | C0002452 | GeneticVariation | 0.12 | disgenet |
| Amelogenesis Imperfecta | ODAPH | disease | C0002452 | Biomarker | 0.12 | disgenet |
| Amelogenesis Imperfecta | STIM1 | disease | C0002452 | GeneticVariation | 0.12 | disgenet |
| Amelogenesis Imperfecta | STIM1 | disease | C0002452 | Biomarker | 0.12 | disgenet |
| Amelogenesis Imperfecta | SLC24A4 | disease | C0002452 | Biomarker | 0.12 | orphanet , disgenet |
| Amelogenesis Imperfecta | ORAI1 | disease | C0002452 | Biomarker | 0.12 | disgenet |
| Amelogenesis Imperfecta | SLC24A4 | disease | C0002452 | GeneticVariation | 0.12 | orphanet , disgenet |
| Amelogenesis Imperfecta | SLC10A7 | disease | C0002452 | Biomarker | 0.11 | disgenet |
| Amelogenesis Imperfecta | ACP4 | disease | C0002452 | Biomarker | 0.11 | disgenet |
| Amelogenesis Imperfecta | ROGDI | disease | C0002452 | Biomarker | 0.11 | disgenet |
| Amelogenesis Imperfecta | ACP4 | disease | C0002452 | GeneticVariation | 0.11 | disgenet |
| Amelogenesis Imperfecta | ACP4 | disease | C0002452 | CausalMutation | 0.11 | disgenet |
| Amelogenesis Imperfecta | SLC13A5 | disease | C0002452 | Biomarker | 0.11 | disgenet |
| Amelogenesis Imperfecta | SLC10A7 | disease | C0002452 | GeneticVariation | 0.11 | disgenet |
| Amelogenesis Imperfecta | LAMA3 | disease | C0002452 | Biomarker | 0.1 | disgenet |
| Amelogenesis Imperfecta | DNAJC21 | disease | C0002452 | Biomarker | 0.1 | disgenet |
| Amelogenesis Imperfecta | MMP25 | disease | C0002452 | Biomarker | 0.03 | disgenet |
| Amelogenesis Imperfecta | MMP25 | disease | C0002452 | GeneticVariation | 0.03 | disgenet |
| Amelogenesis Imperfecta | TP63 | disease | C0002452 | Biomarker | 0.02 | disgenet |
| Amelogenesis Imperfecta | TP63 | disease | C0002452 | GeneticVariation | 0.02 | disgenet |
| Amelogenesis Imperfecta | UVRAG | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | CKAP4 | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | NHS | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | MSX2 | disease | C0002452 | AlteredExpression | 0.01 | disgenet |
| Amelogenesis Imperfecta | CLDN19 | disease | C0002452 | AlteredExpression | 0.01 | disgenet |
| Amelogenesis Imperfecta | SLC24A3 | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | RPGR | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | GPR68 | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | VIS1 | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | RPE65 | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | COL1A2 | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | BMP4 | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | DSPP | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | ARHGAP6 | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | HTN1 | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | HPX | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | CRX | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | HEXIM1 | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | GH1 | disease | C0002452 | AlteredExpression | 0.01 | disgenet |
| Amelogenesis Imperfecta | CSNK1G3 | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | CLDN16 | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | FAM20C | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
| Amelogenesis Imperfecta | CSNK1D | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | CSNK1G2 | disease | C0002452 | Biomarker | 0.01 | disgenet |
| Amelogenesis Imperfecta | ADAM10 | disease | C0002452 | GeneticVariation | 0.01 | disgenet |
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