| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Isaac Syndrome | HINT1 | disease | C0242287 | Biomarker | 0.8 | orphanet , disgenet |
| Isaac Syndrome | HINT1 | disease | C0242287 | CausalMutation | 0.8 | orphanet , disgenet |
| Isaac Syndrome | HINT1 | disease | C0242287 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Isaac Syndrome | HINT1 | disease | C0242287 | GeneticVariation | 0.8 | orphanet , disgenet |
| Isaac Syndrome | KCNA1 | disease | C0242287 | GeneticVariation | 0.22 | disgenet |
| Isaac Syndrome | KCNA1 | disease | C0242287 | Biomarker | 0.22 | disgenet |
| Isaac Syndrome | CNTNAP2 | disease | C0242287 | Biomarker | 0.1 | disgenet |
| Isaac Syndrome | LGI1 | disease | C0242287 | Biomarker | 0.03 | disgenet |
| Isaac Syndrome | NTN1 | disease | C0242287 | Biomarker | 0.03 | disgenet |
| Isaac Syndrome | UNC5A | disease | C0242287 | Biomarker | 0.01 | disgenet |
| Isaac Syndrome | PIK3C2A | disease | C0242287 | AlteredExpression | 0.01 | disgenet |
| Isaac Syndrome | CNTN2 | disease | C0242287 | Biomarker | 0.01 | disgenet |
| Isaac Syndrome | PMP22 | disease | C0242287 | Biomarker | 0.01 | disgenet |
| Isaac Syndrome | THM | disease | C0242287 | Biomarker | 0.01 | disgenet |
| Isaac Syndrome | CCDC125 | disease | C0242287 | Biomarker | 0.01 | disgenet |
| Isaac Syndrome | ACHE | disease | C0242287 | Biomarker | 0.01 | disgenet |
| Isaac Syndrome | DCC | disease | C0242287 | Biomarker | 0.01 | disgenet |
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