Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Microphthalmia associated with colobomatous cyst GDF3 phenotype C2931501 GermlineCausalMutation 0.3 disgenet
Microphthalmia associated with colobomatous cyst SHH phenotype C2931501 GermlineCausalMutation 0.3 disgenet
Microphthalmia associated with colobomatous cyst GDF6 phenotype C2931501 GeneticVariation 0.3 disgenet
Microphthalmia associated with colobomatous cyst TENM3 phenotype C2931501 GermlineCausalMutation 0.3 disgenet
Microphthalmia associated with colobomatous cyst RBP4 phenotype C2931501 GermlineCausalMutation 0.3 disgenet
Microphthalmia associated with colobomatous cyst STRA6 phenotype C2931501 GermlineCausalMutation 0.3 disgenet
Microphthalmia associated with colobomatous cyst ABCB6 phenotype C2931501 GermlineCausalMutation 0.3 disgenet
Microphthalmia associated with colobomatous cyst VSX2 phenotype C2931501 GermlineCausalMutation 0.3 disgenet
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