Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Rett Syndrome, Atypical CDKL5 disease C2748910 GeneticVariation 0.5 orphanet , disgenet
Rett Syndrome, Atypical CDKL5 disease C2748910 CausalMutation 0.5 orphanet , disgenet
Rett Syndrome, Atypical CDKL5 disease C2748910 Biomarker 0.5 orphanet , disgenet
Rett Syndrome, Atypical CDKL5 disease C2748910 GermlineCausalMutation 0.5 orphanet , disgenet
Rett Syndrome, Atypical FOXG1 disease C2748910 Biomarker 0.34 disgenet
Rett Syndrome, Atypical FOXG1 disease C2748910 GermlineCausalMutation 0.34 disgenet
Rett Syndrome, Atypical FOXG1 disease C2748910 GeneticVariation 0.34 disgenet
Rett Syndrome, Atypical NTNG1 disease C2748910 GermlineCausalMutation 0.31 orphanet , disgenet
Rett Syndrome, Atypical NTNG1 disease C2748910 GeneticVariation 0.31 orphanet , disgenet
Rett Syndrome, Atypical GABBR2 disease C2748910 GermlineCausalMutation 0.3 orphanet , disgenet
Rett Syndrome, Atypical STXBP1 disease C2748910 GermlineCausalMutation 0.3 disgenet
Rett Syndrome, Atypical MECP2 disease C2748910 GeneticVariation 0.2 orphanet , disgenet
Rett Syndrome, Atypical MECP2 disease C2748910 Biomarker 0.2 orphanet , disgenet
Rett Syndrome, Atypical MECP2 disease C2748910 CausalMutation 0.2 orphanet , disgenet
Rett Syndrome, Atypical NTNG2 disease C2748910 GeneticVariation 0.01 disgenet
Rett Syndrome, Atypical GNAO1 disease C2748910 GeneticVariation 0.01 disgenet
Rett Syndrome, Atypical HOOK1 disease C2748910 GeneticVariation 0.01 disgenet
Rett Syndrome, Atypical CACNA1A disease C2748910 GeneticVariation 0.01 disgenet
Rett Syndrome, Atypical MEF2C disease C2748910 GeneticVariation 0.01 disgenet
Rett Syndrome, Atypical SMC1A NA C2748910 NA NA orphanet
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