Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Craniodiaphyseal Dysplasia, Autosomal Dominant SOST disease C2675746 CausalMutation 0.73 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant SOST disease C2675746 Biomarker 0.73 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant SOST disease C2675746 GeneticVariation 0.73 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant ANKH disease C2675746 Biomarker 0.2 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant CDKL5 disease C2675746 Biomarker 0.1 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant CDKL5 disease C2675746 GeneticVariation 0.1 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant NPPA disease C2675746 Biomarker 0.01 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant GRIA2 disease C2675746 AlteredExpression 0.01 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant CXCL8 disease C2675746 Biomarker 0.01 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant CDA disease C2675746 Biomarker 0.01 disgenet
Craniodiaphyseal Dysplasia, Autosomal Dominant CLIP1 disease C2675746 Biomarker 0.01 disgenet
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