| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40LG | disease | C0398689 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40LG | disease | C0398689 | PosttranslationalModification | 0.8 | orphanet , disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40LG | disease | C0398689 | CausalMutation | 0.8 | orphanet , disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40LG | disease | C0398689 | Biomarker | 0.8 | orphanet , disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40LG | disease | C0398689 | GeneticVariation | 0.8 | orphanet , disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40LG | disease | C0398689 | AlteredExpression | 0.8 | orphanet , disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | AICDA | disease | C0398689 | Biomarker | 0.1 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | AICDA | disease | C0398689 | AlteredExpression | 0.1 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40 | disease | C0398689 | GeneticVariation | 0.1 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40 | disease | C0398689 | Biomarker | 0.1 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD40 | disease | C0398689 | AlteredExpression | 0.1 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | AICDA | disease | C0398689 | GeneticVariation | 0.1 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CHI3L1 | disease | C0398689 | Biomarker | 0.05 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CHI3L1 | disease | C0398689 | GeneticVariation | 0.05 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | UNG | disease | C0398689 | Biomarker | 0.04 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | UNG | disease | C0398689 | GeneticVariation | 0.04 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD27 | disease | C0398689 | Biomarker | 0.03 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | IKBKG | disease | C0398689 | GeneticVariation | 0.03 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | IKBKG | disease | C0398689 | AlteredExpression | 0.03 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | PIK3CD | disease | C0398689 | Biomarker | 0.02 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | PIK3CD | disease | C0398689 | GeneticVariation | 0.02 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | TRAP | disease | C0398689 | GeneticVariation | 0.02 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CDR3 | disease | C0398689 | Biomarker | 0.02 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CDR3 | disease | C0398689 | GeneticVariation | 0.02 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | FCER2 | disease | C0398689 | AlteredExpression | 0.02 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | PIK3R1 | disease | C0398689 | GeneticVariation | 0.02 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | IGHV3-23 | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | IL2RA | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | EBI3 | disease | C0398689 | GeneticVariation | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | MRC1 | disease | C0398689 | GeneticVariation | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | PIK3CA | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD19 | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | FOXP3 | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | PIK3CG | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | MRFAP1 | disease | C0398689 | GeneticVariation | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | SWAP70 | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CYBB | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | BTK | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | CD80 | disease | C0398689 | AlteredExpression | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | HPRT1 | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | NCF1 | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | IL10 | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | ERG | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | PIK3CB | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | ISG20 | disease | C0398689 | Biomarker | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | TNF | disease | C0398689 | GeneticVariation | 0.01 | disgenet |
| Hyper IgM Immunodeficiency Syndrome, Type 1 | IL18R1 | disease | C0398689 | GeneticVariation | 0.01 | disgenet |
| click here to return to the previous page | ||||||