Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cataract microcornea syndrome GJA8 disease C1861829 GermlineCausalMutation 0.61 orphanet , disgenet
Cataract microcornea syndrome GJA8 disease C1861829 Biomarker 0.61 orphanet , disgenet
Cataract microcornea syndrome GJA8 disease C1861829 GeneticVariation 0.61 orphanet , disgenet
Cataract microcornea syndrome CRYBB1 disease C1861829 GeneticVariation 0.33 orphanet , disgenet
Cataract microcornea syndrome CRYBB1 disease C1861829 GermlineCausalMutation 0.33 orphanet , disgenet
Cataract microcornea syndrome ABCA3 disease C1861829 GeneticVariation 0.31 disgenet
Cataract microcornea syndrome CRYAA disease C1861829 GeneticVariation 0.31 orphanet , disgenet
Cataract microcornea syndrome ABCA3 disease C1861829 Biomarker 0.31 disgenet
Cataract microcornea syndrome CRYAA disease C1861829 GermlineCausalMutation 0.31 orphanet , disgenet
Cataract microcornea syndrome CRYGC disease C1861829 GermlineCausalMutation 0.3 orphanet , disgenet
Cataract microcornea syndrome MAF disease C1861829 GermlineCausalMutation 0.3 orphanet , disgenet
Cataract microcornea syndrome CRYGD disease C1861829 GermlineCausalMutation 0.3 orphanet , disgenet
Cataract microcornea syndrome CRYBB2 disease C1861829 GermlineCausalMutation 0.3 orphanet , disgenet
Cataract microcornea syndrome CRYBA4 disease C1861829 GermlineCausalMutation 0.3 orphanet , disgenet
Cataract microcornea syndrome ABCB5 disease C1861829 GeneticVariation 0.01 disgenet
Cataract microcornea syndrome SLC16A12 NA C1861829 NA NA orphanet
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