Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Fryns syndrome | PIGN | disease | C0220730 | GeneticVariation | 0.33 | orphanet , disgenet |
Fryns syndrome | PIGN | disease | C0220730 | GermlineCausalMutation | 0.33 | orphanet , disgenet |
Fryns syndrome | HTC2 | disease | C0220730 | Biomarker | 0.01 | disgenet |
Fryns syndrome | IGHV1-12 | disease | C0220730 | Biomarker | 0.01 | disgenet |
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