Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Keratosis Follicularis Spinulosa Decalvans, X-Linked MBTPS2 disease C3887525 GeneticVariation 0.74 orphanet , disgenet
Keratosis Follicularis Spinulosa Decalvans, X-Linked MBTPS2 disease C3887525 CausalMutation 0.74 orphanet , disgenet
Keratosis Follicularis Spinulosa Decalvans, X-Linked MBTPS2 disease C3887525 Biomarker 0.74 orphanet , disgenet
Keratosis Follicularis Spinulosa Decalvans, X-Linked SAT1 disease C3887525 GeneticVariation 0.02 orphanet , disgenet
Keratosis Follicularis Spinulosa Decalvans, X-Linked LRP1 NA C3887525 NA NA orphanet
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