Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ichthyosis prematurity syndrome SLC27A4 disease C1837610 GermlineCausalMutation 0.79 orphanet , disgenet
Ichthyosis prematurity syndrome SLC27A4 disease C1837610 GeneticVariation 0.79 orphanet , disgenet
Ichthyosis prematurity syndrome SLC27A4 disease C1837610 AlteredExpression 0.79 orphanet , disgenet
Ichthyosis prematurity syndrome SLC27A4 disease C1837610 Biomarker 0.79 orphanet , disgenet
Ichthyosis prematurity syndrome SLC27A4 disease C1837610 CausalMutation 0.79 orphanet , disgenet
Ichthyosis prematurity syndrome KRIT1 disease C1837610 Biomarker 0.01 disgenet
Ichthyosis prematurity syndrome CAMKMT disease C1837610 Biomarker 0.01 disgenet
Ichthyosis prematurity syndrome CAD disease C1837610 Biomarker 0.01 disgenet
Ichthyosis prematurity syndrome ISYNA1 disease C1837610 Biomarker 0.01 disgenet
Ichthyosis prematurity syndrome RPE65 disease C1837610 Biomarker 0.01 disgenet
Ichthyosis prematurity syndrome CALM3 disease C1837610 Biomarker 0.01 disgenet
Ichthyosis prematurity syndrome CALM2 disease C1837610 Biomarker 0.01 disgenet
Ichthyosis prematurity syndrome CALM1 disease C1837610 Biomarker 0.01 disgenet
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