Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperferritinemia, hereditary, with congenital cataracts FTL disease C1833213 Biomarker 0.8 orphanet , disgenet
Hyperferritinemia, hereditary, with congenital cataracts FTL disease C1833213 GermlineCausalMutation 0.8 orphanet , disgenet
Hyperferritinemia, hereditary, with congenital cataracts FTL disease C1833213 CausalMutation 0.8 orphanet , disgenet
Hyperferritinemia, hereditary, with congenital cataracts FTL disease C1833213 GeneticVariation 0.8 orphanet , disgenet
Hyperferritinemia, hereditary, with congenital cataracts HAMP disease C1833213 AlteredExpression 0.01 disgenet
Hyperferritinemia, hereditary, with congenital cataracts CP disease C1833213 GeneticVariation 0.01 disgenet
Hyperferritinemia, hereditary, with congenital cataracts CYCS disease C1833213 AlteredExpression 0.01 disgenet
Hyperferritinemia, hereditary, with congenital cataracts GCNT2 disease C1833213 GeneticVariation 0.01 disgenet
Hyperferritinemia, hereditary, with congenital cataracts IREB2 disease C1833213 GeneticVariation 0.01 disgenet
Hyperferritinemia, hereditary, with congenital cataracts WNT2 disease C1833213 Biomarker 0.01 disgenet
Hyperferritinemia, hereditary, with congenital cataracts HLCS disease C1833213 AlteredExpression 0.01 disgenet
Hyperferritinemia, hereditary, with congenital cataracts ACO1 disease C1833213 GeneticVariation 0.01 disgenet
Hyperferritinemia, hereditary, with congenital cataracts TBC1D2 disease C1833213 GeneticVariation 0.01 disgenet
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