Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Knobloch syndrome | COL18A1 | disease | C1849409 | GeneticVariation | 0.7 | orphanet , disgenet |
Knobloch syndrome | COL18A1 | disease | C1849409 | Biomarker | 0.7 | orphanet , disgenet |
Knobloch syndrome | COL18A1 | disease | C1849409 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
Knobloch syndrome | ADAMTS18 | disease | C1849409 | GeneticVariation | 0.02 | disgenet |
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