Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Netherton Syndrome SPINK5 disease C0265962 CausalMutation 1 orphanet , disgenet
Netherton Syndrome SPINK5 disease C0265962 AlteredExpression 1 orphanet , disgenet
Netherton Syndrome SPINK5 disease C0265962 GeneticVariation 1 orphanet , disgenet
Netherton Syndrome SPINK5 disease C0265962 GermlineCausalMutation 1 orphanet , disgenet
Netherton Syndrome SPINK5 disease C0265962 Biomarker 1 orphanet , disgenet
Netherton Syndrome ST14 disease C0265962 Biomarker 0.3 disgenet
Netherton Syndrome KLK5 disease C0265962 Biomarker 0.07 disgenet
Netherton Syndrome KLK5 disease C0265962 AlteredExpression 0.07 disgenet
Netherton Syndrome KLK7 disease C0265962 AlteredExpression 0.05 disgenet
Netherton Syndrome KLK7 disease C0265962 Biomarker 0.05 disgenet
Netherton Syndrome FLG disease C0265962 GeneticVariation 0.03 disgenet
Netherton Syndrome FLG disease C0265962 Biomarker 0.03 disgenet
Netherton Syndrome VEGFA disease C0265962 Biomarker 0.02 disgenet
Netherton Syndrome NPHS2 disease C0265962 AlteredExpression 0.02 disgenet
Netherton Syndrome VEGFA disease C0265962 GeneticVariation 0.02 disgenet
Netherton Syndrome ELANE disease C0265962 Biomarker 0.02 disgenet
Netherton Syndrome NPHS2 disease C0265962 Biomarker 0.02 disgenet
Netherton Syndrome NPHS1 disease C0265962 Biomarker 0.02 disgenet
Netherton Syndrome DSG1 disease C0265962 Biomarker 0.02 disgenet
Netherton Syndrome NPHS1 disease C0265962 GeneticVariation 0.02 disgenet
Netherton Syndrome DSG1 disease C0265962 AlteredExpression 0.02 disgenet
Netherton Syndrome PTH disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome ICAM1 disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome FLNA disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome CDSN disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome STAT3 disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome IL17F disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome BTD disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome SOCS5 disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome MIF disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome SPINK1 disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome KLK6 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome DEFB4B disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome ACE disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome POU5F1P3 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome IL33 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome GYPE disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome TGM1 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome GBA disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome GBAP1 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome MERTK disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome GH1 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome NLRX1 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome PTPN11 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome COX2 disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome ICOS disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome GYPA disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome POU5F1 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome GYPB disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome GPT disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome SOCS3 disease C0265962 PosttranslationalModification 0.01 disgenet
Netherton Syndrome IL36B disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome KLK14 disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome IVNS1ABP disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome POU5F1P4 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome DRD4 disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome APP disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome IGHV1-12 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome CTRL disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome ERBB2 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome IL22 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome AVP disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome IVL disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome PTGS2 disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome HRAS disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome IFNG disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome SUB1 disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome TNF disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome PI3 disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome IL17A disease C0265962 Biomarker 0.01 disgenet
Netherton Syndrome CCR5 disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome KRAS disease C0265962 GeneticVariation 0.01 disgenet
Netherton Syndrome DEFB4A disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome MTCO2P12 disease C0265962 AlteredExpression 0.01 disgenet
Netherton Syndrome EPO disease C0265962 Biomarker 0.01 disgenet
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