Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Basal Cell Nevus Syndrome PTCH1 disease C0004779 GeneticVariation 1 orphanet , disgenet
Basal Cell Nevus Syndrome PTCH1 disease C0004779 Biomarker 1 orphanet , disgenet
Basal Cell Nevus Syndrome SUFU disease C0004779 GeneticVariation 1 orphanet , disgenet
Basal Cell Nevus Syndrome SUFU disease C0004779 Biomarker 1 orphanet , disgenet
Basal Cell Nevus Syndrome SUFU disease C0004779 GermlineCausalMutation 1 orphanet , disgenet
Basal Cell Nevus Syndrome SUFU disease C0004779 CausalMutation 1 orphanet , disgenet
Basal Cell Nevus Syndrome PTCH1 disease C0004779 CausalMutation 1 orphanet , disgenet
Basal Cell Nevus Syndrome PTCH1 disease C0004779 AlteredExpression 1 orphanet , disgenet
Basal Cell Nevus Syndrome PTCH1 disease C0004779 GermlineCausalMutation 1 orphanet , disgenet
Basal Cell Nevus Syndrome PTCH2 disease C0004779 GermlineCausalMutation 0.77 orphanet , disgenet
Basal Cell Nevus Syndrome PTCH2 disease C0004779 GeneticVariation 0.77 orphanet , disgenet
Basal Cell Nevus Syndrome PTCH2 disease C0004779 Biomarker 0.77 orphanet , disgenet
Basal Cell Nevus Syndrome PTCH2 disease C0004779 CausalMutation 0.77 orphanet , disgenet
Basal Cell Nevus Syndrome PTH disease C0004779 Biomarker 0.3 disgenet
Basal Cell Nevus Syndrome GLI2 disease C0004779 Biomarker 0.3 disgenet
Basal Cell Nevus Syndrome TP53 disease C0004779 AlteredExpression 0.06 disgenet
Basal Cell Nevus Syndrome TP53 disease C0004779 Biomarker 0.06 disgenet
Basal Cell Nevus Syndrome GLI1 disease C0004779 AlteredExpression 0.05 disgenet
Basal Cell Nevus Syndrome GLI1 disease C0004779 Biomarker 0.05 disgenet
Basal Cell Nevus Syndrome SMO disease C0004779 Biomarker 0.04 disgenet
Basal Cell Nevus Syndrome SMO disease C0004779 GeneticVariation 0.04 disgenet
Basal Cell Nevus Syndrome BCL2 disease C0004779 Biomarker 0.03 disgenet
Basal Cell Nevus Syndrome BCL2 disease C0004779 AlteredExpression 0.03 disgenet
Basal Cell Nevus Syndrome CCDC6 disease C0004779 GeneticVariation 0.02 disgenet
Basal Cell Nevus Syndrome TAS2R38 disease C0004779 GeneticVariation 0.02 disgenet
Basal Cell Nevus Syndrome ROR2 disease C0004779 GeneticVariation 0.02 disgenet
Basal Cell Nevus Syndrome PCNA disease C0004779 AlteredExpression 0.02 disgenet
Basal Cell Nevus Syndrome TGFBR1 disease C0004779 Biomarker 0.02 disgenet
Basal Cell Nevus Syndrome F9 disease C0004779 GeneticVariation 0.02 disgenet
Basal Cell Nevus Syndrome RET disease C0004779 GeneticVariation 0.02 disgenet
Basal Cell Nevus Syndrome LMNA disease C0004779 Biomarker 0.02 disgenet
Basal Cell Nevus Syndrome SHH disease C0004779 GeneticVariation 0.02 disgenet
Basal Cell Nevus Syndrome SUMO3 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome TAC1 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome SLC2A1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome GAS1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome ZNRD2 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome PSMD9 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome CYP2D6 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome XRCC6 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome IFI27 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome TMED7-TICAM2 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome PTPN3 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome H3P23 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome MC1R disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome BAX disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome DMPK disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome KRT14 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome GSTM1 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome MKI67 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome TP63 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome FAS disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome MMP3 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome SLC2A3 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome ZMPSTE24 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome PI3 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome APC disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome PDPN disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome GC disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome CYP2B6 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome NCAM1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome GSTT1 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome CCND1 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome TACR1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome TMED7 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome MAP3K1 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome LOC110806263 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome NF1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome GPC3 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome STK11 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome HLA-DRB1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome DSG2 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome GLB1 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome MYC disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome CCNB1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome CYP1A1 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome HTC2 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome SUMO2 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome LATS1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome RAB23 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome MIB1 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome HPSE disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome XRS disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome TICAM2 disease C0004779 AlteredExpression 0.01 disgenet
Basal Cell Nevus Syndrome ALDH1A1 disease C0004779 Biomarker 0.01 disgenet
Basal Cell Nevus Syndrome BAP1 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome ZFHX4 disease C0004779 GeneticVariation 0.01 disgenet
Basal Cell Nevus Syndrome DCTN6 disease C0004779 AlteredExpression 0.01 disgenet
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