| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| WHIM syndrome | CXCR4 | disease | C0472817 | AlteredExpression | 1 | orphanet , disgenet |
| WHIM syndrome | CXCR4 | disease | C0472817 | CausalMutation | 1 | orphanet , disgenet |
| WHIM syndrome | CXCR4 | disease | C0472817 | GeneticVariation | 1 | orphanet , disgenet |
| WHIM syndrome | CXCR4 | disease | C0472817 | Biomarker | 1 | orphanet , disgenet |
| WHIM syndrome | CXCR4 | disease | C0472817 | GermlineCausalMutation | 1 | orphanet , disgenet |
| WHIM syndrome | CXCL12 | disease | C0472817 | AlteredExpression | 0.1 | disgenet |
| WHIM syndrome | CXCL12 | disease | C0472817 | Biomarker | 0.1 | disgenet |
| WHIM syndrome | CXCL12 | disease | C0472817 | GeneticVariation | 0.1 | disgenet |
| WHIM syndrome | GRK3 | disease | C0472817 | Biomarker | 0.02 | disgenet |
| WHIM syndrome | CSF3 | disease | C0472817 | AlteredExpression | 0.01 | disgenet |
| WHIM syndrome | CORO1A | disease | C0472817 | Biomarker | 0.01 | disgenet |
| WHIM syndrome | RAC2 | disease | C0472817 | GeneticVariation | 0.01 | disgenet |
| WHIM syndrome | ACKR3 | disease | C0472817 | Biomarker | 0.01 | disgenet |
| WHIM syndrome | FLNA | disease | C0472817 | Biomarker | 0.01 | disgenet |
| WHIM syndrome | ITK | disease | C0472817 | GeneticVariation | 0.01 | disgenet |
| WHIM syndrome | MYD88 | disease | C0472817 | GeneticVariation | 0.01 | disgenet |
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