Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cerebrooculofacioskeletal Syndrome 1 ERCC6 disease C0220722 CausalMutation 0.74 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC6 disease C0220722 Biomarker 0.74 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC6 disease C0220722 GeneticVariation 0.74 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC2 disease C0220722 GermlineCausalMutation 0.43 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC2 disease C0220722 CausalMutation 0.43 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC2 disease C0220722 GeneticVariation 0.43 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC1 disease C0220722 Biomarker 0.32 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC5 disease C0220722 GermlineCausalMutation 0.32 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC1 disease C0220722 GermlineCausalMutation 0.32 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC1 disease C0220722 GeneticVariation 0.32 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC5 disease C0220722 GeneticVariation 0.32 orphanet , disgenet
Cerebrooculofacioskeletal Syndrome 1 CSH2 disease C0220722 GeneticVariation 0.02 disgenet
Cerebrooculofacioskeletal Syndrome 1 CSH1 disease C0220722 GeneticVariation 0.02 disgenet
Cerebrooculofacioskeletal Syndrome 1 ERCC3 disease C0220722 GeneticVariation 0.01 disgenet
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