Disease Information | ||||||
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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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