Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Partington X-linked mental retardation syndrome ARX disease C0796250 Biomarker 0.74 orphanet , disgenet
Partington X-linked mental retardation syndrome ARX disease C0796250 GermlineCausalMutation 0.74 orphanet , disgenet
Partington X-linked mental retardation syndrome ARX disease C0796250 GeneticVariation 0.74 orphanet , disgenet
Partington X-linked mental retardation syndrome ARX disease C0796250 CausalMutation 0.74 orphanet , disgenet
Partington X-linked mental retardation syndrome RPL10 disease C0796250 Biomarker 0.3 disgenet
Partington X-linked mental retardation syndrome KDM5C disease C0796250 Biomarker 0.3 disgenet
Partington X-linked mental retardation syndrome BRWD3 disease C0796250 Biomarker 0.3 disgenet
Partington X-linked mental retardation syndrome CASK disease C0796250 Biomarker 0.3 disgenet
Partington X-linked mental retardation syndrome POLA1 disease C0796250 GermlineCausalMutation 0.3 disgenet
Partington X-linked mental retardation syndrome GRIA3 disease C0796250 Biomarker 0.3 disgenet
Partington X-linked mental retardation syndrome PAK3 disease C0796250 Biomarker 0.3 disgenet
Partington X-linked mental retardation syndrome DLG3 disease C0796250 Biomarker 0.01 disgenet
Partington X-linked mental retardation syndrome STMN1 disease C0796250 Biomarker 0.01 disgenet
Partington X-linked mental retardation syndrome MECP2 disease C0796250 GeneticVariation 0.01 disgenet
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