Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenita, Pachyonychia KRT17 disease C0265334 GeneticVariation 0.7 orphanet , disgenet
Congenita, Pachyonychia KRT17 disease C0265334 AlteredExpression 0.7 orphanet , disgenet
Congenita, Pachyonychia KRT17 disease C0265334 Biomarker 0.7 orphanet , disgenet
Congenita, Pachyonychia KRT16 disease C0265334 GeneticVariation 0.6 orphanet , disgenet
Congenita, Pachyonychia KRT16 disease C0265334 Biomarker 0.6 orphanet , disgenet
Congenita, Pachyonychia KRT6A disease C0265334 Biomarker 0.4 orphanet , disgenet
Congenita, Pachyonychia KRT6A disease C0265334 AlteredExpression 0.4 orphanet , disgenet
Congenita, Pachyonychia KRT6A disease C0265334 GeneticVariation 0.4 orphanet , disgenet
Congenita, Pachyonychia KRT6B disease C0265334 Biomarker 0.34 orphanet , disgenet
Congenita, Pachyonychia KRT6B disease C0265334 GeneticVariation 0.34 orphanet , disgenet
Congenita, Pachyonychia KRT10 disease C0265334 Biomarker 0.3 disgenet
Congenita, Pachyonychia KRT6C disease C0265334 GeneticVariation 0.04 disgenet
Congenita, Pachyonychia GABPA disease C0265334 AlteredExpression 0.01 disgenet
Congenita, Pachyonychia MTOR disease C0265334 Biomarker 0.01 disgenet
Congenita, Pachyonychia KLKB1 disease C0265334 Biomarker 0.01 disgenet
Congenita, Pachyonychia KRT80 disease C0265334 Biomarker 0.01 disgenet
Congenita, Pachyonychia SLURP1 disease C0265334 GeneticVariation 0.01 disgenet
Congenita, Pachyonychia PNOC disease C0265334 AlteredExpression 0.01 disgenet
Congenita, Pachyonychia NFE2L2 disease C0265334 AlteredExpression 0.01 disgenet
Congenita, Pachyonychia KRT1 disease C0265334 Biomarker 0.01 disgenet
Congenita, Pachyonychia KRT9 disease C0265334 Biomarker 0.01 disgenet
Congenita, Pachyonychia GJB2 disease C0265334 Biomarker 0.01 disgenet
Congenita, Pachyonychia FLG disease C0265334 Biomarker 0.01 disgenet
Congenita, Pachyonychia AQP5 disease C0265334 GeneticVariation 0.01 disgenet
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