Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Benign Familial Pemphigus ATP2C1 disease C0085106 GermlineCausalMutation 0.8 orphanet , disgenet
Benign Familial Pemphigus ATP2C1 disease C0085106 Biomarker 0.8 orphanet , disgenet
Benign Familial Pemphigus ATP2C1 disease C0085106 AlteredExpression 0.8 orphanet , disgenet
Benign Familial Pemphigus ATP2C1 disease C0085106 CausalMutation 0.8 orphanet , disgenet
Benign Familial Pemphigus ATP2C1 disease C0085106 GeneticVariation 0.8 orphanet , disgenet
Benign Familial Pemphigus SLURP1 disease C0085106 Biomarker 0.2 disgenet
Benign Familial Pemphigus ATP2A2 disease C0085106 AlteredExpression 0.07 disgenet
Benign Familial Pemphigus ATP2A2 disease C0085106 Biomarker 0.07 disgenet
Benign Familial Pemphigus ATP2A2 disease C0085106 GeneticVariation 0.07 disgenet
Benign Familial Pemphigus PXDNL disease C0085106 Biomarker 0.02 disgenet
Benign Familial Pemphigus NOTCH1 disease C0085106 AlteredExpression 0.02 disgenet
Benign Familial Pemphigus NOTCH1 disease C0085106 Biomarker 0.02 disgenet
Benign Familial Pemphigus PXDNL disease C0085106 GeneticVariation 0.02 disgenet
Benign Familial Pemphigus SLC8A1 disease C0085106 GeneticVariation 0.01 disgenet
Benign Familial Pemphigus CASP3 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus DSP disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus LRP1 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus HLA-B disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus MIR25 disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus MFAP4 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus IRF6 disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus SP1 disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus ADRA1A disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus PARP1 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus RPE65 disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus PPARA disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus GABPA disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus YY1 disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus GDE1 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus DNAH8 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus TP63 disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus PMAIP1 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus ACTB disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus CKAP4 disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus COL11A2 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus TPO disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus NFE2L2 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus IVL disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus UVRAG disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus MIR19B1 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus AGT disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus ORAI1 disease C0085106 Biomarker 0.01 disgenet
Benign Familial Pemphigus CXCL8 disease C0085106 AlteredExpression 0.01 disgenet
Benign Familial Pemphigus ERBB2 disease C0085106 Biomarker 0.01 disgenet
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