Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Craniosynostosis radial aplasia syndrome | RECQL4 | disease | C0265308 | GeneticVariation | 0.77 | orphanet , disgenet |
Craniosynostosis radial aplasia syndrome | RECQL4 | disease | C0265308 | CausalMutation | 0.77 | orphanet , disgenet |
Craniosynostosis radial aplasia syndrome | RECQL4 | disease | C0265308 | GermlineCausalMutation | 0.77 | orphanet , disgenet |
Craniosynostosis radial aplasia syndrome | RECQL4 | disease | C0265308 | Biomarker | 0.77 | orphanet , disgenet |
Craniosynostosis radial aplasia syndrome | TWIST1 | disease | C0265308 | GeneticVariation | 0.02 | disgenet |
Craniosynostosis radial aplasia syndrome | TNF | disease | C0265308 | Biomarker | 0.01 | disgenet |
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