| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Atrioventricular Septal Defect | GATA6 | disease | C1389018 | Biomarker | 0.4 | orphanet , disgenet |
| Atrioventricular Septal Defect | GATA4 | disease | C1389018 | GeneticVariation | 0.32 | orphanet , disgenet |
| Atrioventricular Septal Defect | GATA4 | disease | C1389018 | Biomarker | 0.32 | orphanet , disgenet |
| Atrioventricular Septal Defect | GJA1 | disease | C1389018 | Biomarker | 0.3 | disgenet |
| Atrioventricular Septal Defect | GDF1 | disease | C1389018 | GeneticVariation | 0.11 | disgenet |
| Atrioventricular Septal Defect | TBX1 | disease | C1389018 | GeneticVariation | 0.11 | disgenet |
| Atrioventricular Septal Defect | TBX5 | disease | C1389018 | GeneticVariation | 0.11 | disgenet |
| Atrioventricular Septal Defect | TBX1 | disease | C1389018 | Biomarker | 0.11 | disgenet |
| Atrioventricular Septal Defect | GDF1 | disease | C1389018 | Biomarker | 0.11 | disgenet |
| Atrioventricular Septal Defect | PTPN11 | disease | C1389018 | CausalMutation | 0.1 | disgenet |
| Atrioventricular Septal Defect | GATA1 | disease | C1389018 | Biomarker | 0.1 | disgenet |
| Atrioventricular Septal Defect | NKX2-6 | disease | C1389018 | Biomarker | 0.1 | disgenet |
| Atrioventricular Septal Defect | HDAC8 | disease | C1389018 | CausalMutation | 0.1 | disgenet |
| Atrioventricular Septal Defect | CDC45 | disease | C1389018 | Biomarker | 0.1 | disgenet |
| Atrioventricular Septal Defect | NKX2-5 | disease | C1389018 | Biomarker | 0.1 | orphanet , disgenet |
| Atrioventricular Septal Defect | INTU | disease | C1389018 | Biomarker | 0.1 | disgenet |
| Atrioventricular Septal Defect | SMARCA4 | disease | C1389018 | GeneticVariation | 0.1 | disgenet |
| Atrioventricular Septal Defect | WDPCP | disease | C1389018 | Biomarker | 0.1 | disgenet |
| Atrioventricular Septal Defect | SMARCAL1 | disease | C1389018 | CausalMutation | 0.1 | disgenet |
| Atrioventricular Septal Defect | ANKRD11 | disease | C1389018 | GeneticVariation | 0.1 | disgenet |
| Atrioventricular Septal Defect | TRIO | disease | C1389018 | Biomarker | 0.1 | disgenet |
| Atrioventricular Septal Defect | HYLS1 | disease | C1389018 | Biomarker | 0.1 | disgenet |
| Atrioventricular Septal Defect | PUF60 | disease | C1389018 | Biomarker | 0.1 | disgenet |
| Atrioventricular Septal Defect | CRELD1 | disease | C1389018 | GeneticVariation | 0.05 | orphanet , disgenet |
| Atrioventricular Septal Defect | CRELD1 | disease | C1389018 | Biomarker | 0.05 | orphanet , disgenet |
| Atrioventricular Septal Defect | BMP4 | disease | C1389018 | Biomarker | 0.02 | disgenet |
| Atrioventricular Septal Defect | HEY2 | disease | C1389018 | AlteredExpression | 0.02 | disgenet |
| Atrioventricular Septal Defect | HEY2 | disease | C1389018 | Biomarker | 0.02 | disgenet |
| Atrioventricular Septal Defect | BMP2 | disease | C1389018 | AlteredExpression | 0.02 | disgenet |
| Atrioventricular Septal Defect | TBX2 | disease | C1389018 | AlteredExpression | 0.02 | disgenet |
| Atrioventricular Septal Defect | PITX2 | disease | C1389018 | AlteredExpression | 0.02 | disgenet |
| Atrioventricular Septal Defect | PITX2 | disease | C1389018 | Biomarker | 0.02 | disgenet |
| Atrioventricular Septal Defect | BMP4 | disease | C1389018 | AlteredExpression | 0.02 | disgenet |
| Atrioventricular Septal Defect | MYL7 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | BAZ2B | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | FOXP1 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | NPNT | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | ACVR1 | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | HAND2 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | MED12 | disease | C1389018 | AlteredExpression | 0.01 | disgenet |
| Atrioventricular Septal Defect | MDM4 | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | HTC2 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | ACE | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | TFAP2B | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | CEMIP2 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | SLC19A1 | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | AUTS2 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | RUNX2 | disease | C1389018 | AlteredExpression | 0.01 | disgenet |
| Atrioventricular Septal Defect | CHDH | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | IFT172 | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | SNAI1 | disease | C1389018 | AlteredExpression | 0.01 | disgenet |
| Atrioventricular Septal Defect | SALL4 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | CASP3 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | ETV5 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | SOX9 | disease | C1389018 | AlteredExpression | 0.01 | disgenet |
| Atrioventricular Septal Defect | IFT27 | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | CHD7 | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | ZIC3 | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | NEXMIF | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | IL1B | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | AVSD1 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | TAMM41 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | MTR | disease | C1389018 | GeneticVariation | 0.01 | disgenet |
| Atrioventricular Septal Defect | RBM24 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | NFATC1 | disease | C1389018 | Biomarker | 0.01 | disgenet |
| Atrioventricular Septal Defect | NR2F2 | NA | C1389018 | NA | NA | orphanet |
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