| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cyanoses | CYB5R3 | phenotype | C0010520 | Biomarker | 0.43 | disgenet |
| Cyanoses | TGFB2 | phenotype | C0010520 | Biomarker | 0.3 | disgenet |
| Cyanoses | ADRA2B | phenotype | C0010520 | Biomarker | 0.3 | disgenet |
| Cyanoses | HBB | phenotype | C0010520 | Biomarker | 0.3 | disgenet |
| Cyanoses | HBG2 | phenotype | C0010520 | AlteredExpression | 0.15 | disgenet |
| Cyanoses | HBG2 | phenotype | C0010520 | GeneticVariation | 0.15 | disgenet |
| Cyanoses | HBG2 | phenotype | C0010520 | Biomarker | 0.15 | disgenet |
| Cyanoses | CHAT | phenotype | C0010520 | Biomarker | 0.11 | disgenet |
| Cyanoses | CHAT | phenotype | C0010520 | GeneticVariation | 0.11 | disgenet |
| Cyanoses | SCN4A | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SLC18A3 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | ENG | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | RBM10 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SLC25A3 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | DOK7 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SNAP25 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | AK9 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | ACVRL1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SLC25A1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | MUSK | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | COL13A1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | PCK1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SYT2 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | ZMPSTE24 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | GJA1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | MMP21 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | AGRN | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | VAMP1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | MYO9A | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | CYB5A | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | PRKAG2 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | LRP4 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | RAPSN | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | CHRNA1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SLC25A20 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | ALG8 | phenotype | C0010520 | CausalMutation | 0.1 | disgenet |
| Cyanoses | LMNA | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SLC2A1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | TMEM260 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | CHRNB1 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SCN2A | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | CHRNE | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SFTPB | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SFTPC | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | SLC5A7 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | ZIC3 | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | CHRND | phenotype | C0010520 | Biomarker | 0.1 | disgenet |
| Cyanoses | ASXL1 | phenotype | C0010520 | Biomarker | 0.01 | disgenet |
| Cyanoses | BRCA2 | phenotype | C0010520 | GeneticVariation | 0.01 | disgenet |
| Cyanoses | HBA1 | phenotype | C0010520 | GeneticVariation | 0.01 | disgenet |
| Cyanoses | PPARGC1A | phenotype | C0010520 | AlteredExpression | 0.01 | disgenet |
| Cyanoses | ALDH2 | phenotype | C0010520 | AlteredExpression | 0.01 | disgenet |
| Cyanoses | PSEN1 | phenotype | C0010520 | GeneticVariation | 0.01 | disgenet |
| Cyanoses | HBA2 | phenotype | C0010520 | GeneticVariation | 0.01 | disgenet |
| Cyanoses | MYH10 | phenotype | C0010520 | GeneticVariation | 0.01 | disgenet |
| Cyanoses | CRP | phenotype | C0010520 | AlteredExpression | 0.01 | disgenet |
| Cyanoses | FANCD2 | phenotype | C0010520 | GeneticVariation | 0.01 | disgenet |
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