Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Anophthalmos with limb anomalies SMOC1 disease C0599973 CausalMutation 0.99 orphanet , disgenet
Anophthalmos with limb anomalies SMOC1 disease C0599973 GeneticVariation 0.99 orphanet , disgenet
Anophthalmos with limb anomalies SMOC1 disease C0599973 GermlineCausalMutation 0.99 orphanet , disgenet
Anophthalmos with limb anomalies SMOC1 disease C0599973 Biomarker 0.99 orphanet , disgenet
Anophthalmos with limb anomalies FNBP4 disease C0599973 Biomarker 0.31 disgenet
Anophthalmos with limb anomalies FNBP4 disease C0599973 GeneticVariation 0.31 disgenet
Anophthalmos with limb anomalies PAX3 disease C0599973 GermlineCausalMutation 0.3 disgenet
Anophthalmos with limb anomalies FLG disease C0599973 GeneticVariation 0.01 disgenet
Anophthalmos with limb anomalies HMX1 disease C0599973 GeneticVariation 0.01 disgenet
Anophthalmos with limb anomalies CD207 disease C0599973 Biomarker 0.01 disgenet
Anophthalmos with limb anomalies CD68 disease C0599973 Biomarker 0.01 disgenet
Anophthalmos with limb anomalies SPARC disease C0599973 GeneticVariation 0.01 disgenet
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