| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Combined Immunodeficiencies, Severe | JAK3 | disease | C0085110 | AlteredExpression | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | JAK3 | disease | C0085110 | Biomarker | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | JAK3 | disease | C0085110 | GeneticVariation | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | RAG1 | disease | C0085110 | AlteredExpression | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | RAG1 | disease | C0085110 | CausalMutation | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | PRKDC | disease | C0085110 | Biomarker | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | RAG1 | disease | C0085110 | GeneticVariation | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | PRKDC | disease | C0085110 | AlteredExpression | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | PRKDC | disease | C0085110 | GeneticVariation | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | RAG1 | disease | C0085110 | Biomarker | 0.7 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | CD3E | disease | C0085110 | GeneticVariation | 0.62 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | CD3E | disease | C0085110 | Biomarker | 0.62 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | ZAP70 | disease | C0085110 | GeneticVariation | 0.6 | disgenet |
| Combined Immunodeficiencies, Severe | ZAP70 | disease | C0085110 | Biomarker | 0.6 | disgenet |
| Combined Immunodeficiencies, Severe | CD3D | disease | C0085110 | GeneticVariation | 0.54 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | CD3D | disease | C0085110 | Biomarker | 0.54 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL7R | disease | C0085110 | Biomarker | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL2RG | disease | C0085110 | GeneticVariation | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL7R | disease | C0085110 | CausalMutation | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | LIG4 | disease | C0085110 | Biomarker | 0.5 | disgenet |
| Combined Immunodeficiencies, Severe | DCLRE1C | disease | C0085110 | Biomarker | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | DCLRE1C | disease | C0085110 | GeneticVariation | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL7R | disease | C0085110 | GeneticVariation | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL7R | disease | C0085110 | AlteredExpression | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | ADA | disease | C0085110 | AlteredExpression | 0.5 | disgenet |
| Combined Immunodeficiencies, Severe | IL2RG | disease | C0085110 | CausalMutation | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | RAG2 | disease | C0085110 | Biomarker | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | RAG2 | disease | C0085110 | AlteredExpression | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL2RG | disease | C0085110 | Biomarker | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | RAG2 | disease | C0085110 | CausalMutation | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | RAG2 | disease | C0085110 | GeneticVariation | 0.5 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | LIG4 | disease | C0085110 | GeneticVariation | 0.5 | disgenet |
| Combined Immunodeficiencies, Severe | ADA | disease | C0085110 | GeneticVariation | 0.5 | disgenet |
| Combined Immunodeficiencies, Severe | ADA | disease | C0085110 | CausalMutation | 0.5 | disgenet |
| Combined Immunodeficiencies, Severe | ADA | disease | C0085110 | Biomarker | 0.5 | disgenet |
| Combined Immunodeficiencies, Severe | PTPRC | disease | C0085110 | AlteredExpression | 0.47 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | PTPRC | disease | C0085110 | Biomarker | 0.47 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | PTPRC | disease | C0085110 | GeneticVariation | 0.47 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | AK2 | disease | C0085110 | Biomarker | 0.4 | disgenet |
| Combined Immunodeficiencies, Severe | CD247 | disease | C0085110 | Biomarker | 0.4 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | CD247 | disease | C0085110 | CausalMutation | 0.4 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | CORO1A | disease | C0085110 | Biomarker | 0.34 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL21R | disease | C0085110 | Biomarker | 0.31 | disgenet |
| Combined Immunodeficiencies, Severe | IL21R | disease | C0085110 | GeneticVariation | 0.31 | disgenet |
| Combined Immunodeficiencies, Severe | TBX1 | disease | C0085110 | Biomarker | 0.3 | disgenet |
| Combined Immunodeficiencies, Severe | TFRC | disease | C0085110 | Biomarker | 0.3 | disgenet |
| Combined Immunodeficiencies, Severe | TCN2 | disease | C0085110 | Biomarker | 0.3 | disgenet |
| Combined Immunodeficiencies, Severe | XRCC4 | disease | C0085110 | GeneticVariation | 0.12 | disgenet |
| Combined Immunodeficiencies, Severe | XRCC4 | disease | C0085110 | Biomarker | 0.12 | disgenet |
| Combined Immunodeficiencies, Severe | MTHFD1 | disease | C0085110 | GeneticVariation | 0.12 | disgenet |
| Combined Immunodeficiencies, Severe | TTC7A | disease | C0085110 | Biomarker | 0.12 | disgenet |
| Combined Immunodeficiencies, Severe | MTHFD1 | disease | C0085110 | Biomarker | 0.12 | disgenet |
| Combined Immunodeficiencies, Severe | CHD7 | disease | C0085110 | Biomarker | 0.12 | disgenet |
| Combined Immunodeficiencies, Severe | CHD7 | disease | C0085110 | GeneticVariation | 0.12 | disgenet |
| Combined Immunodeficiencies, Severe | TTC7A | disease | C0085110 | GeneticVariation | 0.12 | disgenet |
| Combined Immunodeficiencies, Severe | BCL11B | disease | C0085110 | Biomarker | 0.11 | disgenet |
| Combined Immunodeficiencies, Severe | RMRP | disease | C0085110 | GeneticVariation | 0.11 | disgenet |
| Combined Immunodeficiencies, Severe | RMRP | disease | C0085110 | Biomarker | 0.11 | disgenet |
| Combined Immunodeficiencies, Severe | CD34 | disease | C0085110 | Biomarker | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | MYOCOS | disease | C0085110 | GeneticVariation | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | PKIG | disease | C0085110 | GeneticVariation | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | ATN1 | disease | C0085110 | AlteredExpression | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | MYH7 | disease | C0085110 | GeneticVariation | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | ATN1 | disease | C0085110 | GeneticVariation | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | ATN1 | disease | C0085110 | Biomarker | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | IL2 | disease | C0085110 | Biomarker | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | PKIG | disease | C0085110 | CausalMutation | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | IL2 | disease | C0085110 | GeneticVariation | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | IL2 | disease | C0085110 | AlteredExpression | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | RAC2 | disease | C0085110 | GeneticVariation | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | PGM3 | disease | C0085110 | Biomarker | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | MYOC | disease | C0085110 | GeneticVariation | 0.1 | disgenet |
| Combined Immunodeficiencies, Severe | ORAI1 | disease | C0085110 | GeneticVariation | 0.09 | disgenet |
| Combined Immunodeficiencies, Severe | ORAI1 | disease | C0085110 | AlteredExpression | 0.09 | disgenet |
| Combined Immunodeficiencies, Severe | EBI3 | disease | C0085110 | GeneticVariation | 0.08 | disgenet |
| Combined Immunodeficiencies, Severe | EBI3 | disease | C0085110 | Biomarker | 0.08 | disgenet |
| Combined Immunodeficiencies, Severe | IL18R1 | disease | C0085110 | GeneticVariation | 0.08 | disgenet |
| Combined Immunodeficiencies, Severe | FOXN1 | disease | C0085110 | Biomarker | 0.08 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL18R1 | disease | C0085110 | Biomarker | 0.08 | disgenet |
| Combined Immunodeficiencies, Severe | IL7 | disease | C0085110 | Biomarker | 0.08 | disgenet |
| Combined Immunodeficiencies, Severe | FOXN1 | disease | C0085110 | GeneticVariation | 0.08 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | FOXN1 | disease | C0085110 | AlteredExpression | 0.08 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IL7 | disease | C0085110 | GeneticVariation | 0.08 | disgenet |
| Combined Immunodeficiencies, Severe | LINC02605 | disease | C0085110 | Biomarker | 0.07 | disgenet |
| Combined Immunodeficiencies, Severe | LINC02605 | disease | C0085110 | GeneticVariation | 0.07 | disgenet |
| Combined Immunodeficiencies, Severe | PNP | disease | C0085110 | Biomarker | 0.06 | disgenet |
| Combined Immunodeficiencies, Severe | PNP | disease | C0085110 | GeneticVariation | 0.06 | disgenet |
| Combined Immunodeficiencies, Severe | CD19 | disease | C0085110 | Biomarker | 0.06 | disgenet |
| Combined Immunodeficiencies, Severe | CD19 | disease | C0085110 | GeneticVariation | 0.06 | disgenet |
| Combined Immunodeficiencies, Severe | ACTB | disease | C0085110 | AlteredExpression | 0.05 | disgenet |
| Combined Immunodeficiencies, Severe | ACTB | disease | C0085110 | Biomarker | 0.05 | disgenet |
| Combined Immunodeficiencies, Severe | IL4 | disease | C0085110 | Biomarker | 0.04 | disgenet |
| Combined Immunodeficiencies, Severe | PLAU | disease | C0085110 | AlteredExpression | 0.04 | disgenet |
| Combined Immunodeficiencies, Severe | PLAU | disease | C0085110 | Biomarker | 0.04 | disgenet |
| Combined Immunodeficiencies, Severe | IL15 | disease | C0085110 | Biomarker | 0.04 | disgenet |
| Combined Immunodeficiencies, Severe | POTEF | disease | C0085110 | AlteredExpression | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | MS4A1 | disease | C0085110 | Biomarker | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | POTEF | disease | C0085110 | Biomarker | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | FUT1 | disease | C0085110 | GeneticVariation | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | MS4A1 | disease | C0085110 | AlteredExpression | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | FUT1 | disease | C0085110 | Biomarker | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | LGALS1 | disease | C0085110 | Biomarker | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | TP53 | disease | C0085110 | Biomarker | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | KRT20 | disease | C0085110 | Biomarker | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | STIM1 | disease | C0085110 | AlteredExpression | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | DPP4 | disease | C0085110 | Biomarker | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | STIM1 | disease | C0085110 | GeneticVariation | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | KRT20 | disease | C0085110 | AlteredExpression | 0.03 | disgenet |
| Combined Immunodeficiencies, Severe | PDLIM7 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | TNFSF13B | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | PDLIM7 | disease | C0085110 | GeneticVariation | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CSF2 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | TNF | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CARD11 | disease | C0085110 | GeneticVariation | 0.02 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | STAT3 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IFNA13 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | TNFSF13B | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IFNA13 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | EPHA2 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CYBB | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IL21 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CARD11 | disease | C0085110 | AlteredExpression | 0.02 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | EPHA2 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IL22 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | MIA | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | ALB | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | PECAM1 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CYBB | disease | C0085110 | GeneticVariation | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IFNA1 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IL23A | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IFNA1 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CDK2 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CSF3 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | PECAM1 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | SOAT1 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | ALB | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | TGFB1 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CXCR4 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | SYK | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | STAT3 | disease | C0085110 | GeneticVariation | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | AIRE | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | STAT5A | disease | C0085110 | GeneticVariation | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | HLA-C | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | LBR | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CD40 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | TRBV20OR9-2 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | TRBV20OR9-2 | disease | C0085110 | GeneticVariation | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CD28 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | RFXAP | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | RFXAP | disease | C0085110 | GeneticVariation | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IL10 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | PPARG | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | IL10 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | PPARG | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CD28 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | MIR17HG | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | SYK | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CCND2 | disease | C0085110 | GeneticVariation | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | FOXP3 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | BCL2 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | NOD1 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CCND2 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | BCL2 | disease | C0085110 | Biomarker | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | CXCR4 | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | MIR17HG | disease | C0085110 | AlteredExpression | 0.02 | disgenet |
| Combined Immunodeficiencies, Severe | MRPS30 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PIK3CB | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ACTR2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PCNA | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | AICDA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TNFRSF12A | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CASP3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | SPARC | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IL1B | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | APBB1IP | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PDX1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CXCL12 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | HPCA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MYD88 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | HIF1A | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ASAP1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TEK | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PDHX | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | BCL6 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NOTCH1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LDLR | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PTGS2 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MPL | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IL9 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | KLF4 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CCR5 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | HPGD | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ITGB3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | SOX1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IL6 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CTLA4 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MMP1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | GPT | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LMNA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LINC01194 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | C3CER1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | EXTL3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TUSC2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NME1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ERVK-6 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PRM3 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LRP5 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CER1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MLANA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | E2F1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | RASSF1 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | WDTC1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CCND1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | DOCK2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MMP14 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CXCR2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MUC1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MMP9 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CD40LG | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CAMP | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LINC00328 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NBN | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | C1QBP | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MELTF | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PROM1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | EPCAM | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PIK3CA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | DHFR | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CD38 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CD82 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CYP2J2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ENG | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IGHD7-27 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TYRP1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | GPC5 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | DOCK8 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PSG2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MYO1E | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | FOXM1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ABCE1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CEACAM7 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PARP1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | VIM | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CEACAM5 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NLRP3 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | KLK3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ACTN4 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ROBO1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ADCP1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PSMA6 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NCF1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ABL1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IKBKB | disease | C0085110 | Biomarker | 0.01 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | ERBB2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | SP110 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PAX1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NLRP2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ITGAV | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CDKN2A | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LCK | disease | C0085110 | AlteredExpression | 0.01 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | IFNAR2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NNMT | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | AMACR | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | RET | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | RTL1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PAPOLA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MYC | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IL18 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | EPHA3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | BTK | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ASAP2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NT5E | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PACC1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ANXA2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NCAM1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IL3 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CDH3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ACP3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | F3 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | JAK2 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CXCL14 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LDHC | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TBC1D9 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | HLA-B | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IER3 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | THY1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IL2RB | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | DMD | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ADO | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LAT | disease | C0085110 | GeneticVariation | 0.01 | orphanet , disgenet |
| Combined Immunodeficiencies, Severe | PAEP | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | THRB | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | SLC20A1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | VTN | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | DCLRE1A | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PAPPA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | VEGFA | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | SMN1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ABCB1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | GHR | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MMP13 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | HIF3A | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PDAP1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | KLK6 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TWSG1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | SLC46A1 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PRMT6 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | HPSE | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | POU1F1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TGFBR1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PDPN | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | RASGRP3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TP63 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IFNG | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | STMN1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | TAPBP | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | B2M | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LDLRAP1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | STAT5B | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | OTC | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | STAT1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | EMP2 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LGR5 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ERVK-32 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PIK3CD | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PIK3R1 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CDR3 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CDK4 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ANGPTL2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MTPAP | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CEACAM3 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PTEN | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PHB2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | FN1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CCN1 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | INA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | PIK3CG | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | XRCC5 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MTA2 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MIR34A | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CARD9 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | RPS19 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | ATM | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CCDC54 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | IL2RA | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CDH17 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | COL18A1 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MTHFD1L | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CTCF | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | SPA17 | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | MME | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | F9 | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CD3G | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | LTF | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | SRGN | disease | C0085110 | AlteredExpression | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | NHEJ1 | disease | C0085110 | GeneticVariation | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | REG3A | disease | C0085110 | Biomarker | 0.01 | disgenet |
| Combined Immunodeficiencies, Severe | CTPS1 | NA | C0085110 | NA | NA | orphanet |
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