Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Breast Cancer, Familial PALB2 disease C0346153 GeneticVariation 0.7 orphanet , disgenet
Breast Cancer, Familial PALB2 disease C0346153 SusceptibilityMutation 0.7 orphanet , disgenet
Breast Cancer, Familial PALB2 disease C0346153 Biomarker 0.7 orphanet , disgenet
Breast Cancer, Familial XRCC2 disease C0346153 Biomarker 0.53 orphanet , disgenet
Breast Cancer, Familial XRCC2 disease C0346153 GeneticVariation 0.53 orphanet , disgenet
Breast Cancer, Familial XRCC2 disease C0346153 SusceptibilityMutation 0.53 orphanet , disgenet
Breast Cancer, Familial RAD51D disease C0346153 Biomarker 0.51 disgenet
Breast Cancer, Familial BRCA2 disease C0346153 SusceptibilityMutation 0.4 orphanet , disgenet
Breast Cancer, Familial BRCA2 disease C0346153 GeneticVariation 0.4 orphanet , disgenet
Breast Cancer, Familial BRCA2 disease C0346153 Biomarker 0.4 orphanet , disgenet
Breast Cancer, Familial BRCA1 disease C0346153 PosttranslationalModification 0.4 orphanet , disgenet
Breast Cancer, Familial BRCA1 disease C0346153 AlteredExpression 0.4 orphanet , disgenet
Breast Cancer, Familial BRCA1 disease C0346153 Biomarker 0.4 orphanet , disgenet
Breast Cancer, Familial BRCA1 disease C0346153 GeneticVariation 0.4 orphanet , disgenet
Breast Cancer, Familial ATM disease C0346153 Biomarker 0.4 disgenet
Breast Cancer, Familial BRCA1 disease C0346153 SusceptibilityMutation 0.4 orphanet , disgenet
Breast Cancer, Familial BRCA2 disease C0346153 AlteredExpression 0.4 orphanet , disgenet
Breast Cancer, Familial ATM disease C0346153 GeneticVariation 0.4 disgenet
Breast Cancer, Familial CHEK2 disease C0346153 GeneticVariation 0.4 disgenet
Breast Cancer, Familial CHEK2 disease C0346153 Biomarker 0.4 disgenet
Breast Cancer, Familial BARD1 disease C0346153 GeneticVariation 0.35 disgenet
Breast Cancer, Familial BARD1 disease C0346153 Biomarker 0.35 disgenet
Breast Cancer, Familial RAD50 disease C0346153 GeneticVariation 0.34 disgenet
Breast Cancer, Familial RAD50 disease C0346153 Biomarker 0.34 disgenet
Breast Cancer, Familial NBN disease C0346153 Biomarker 0.34 disgenet
Breast Cancer, Familial NBN disease C0346153 GeneticVariation 0.34 disgenet
Breast Cancer, Familial SLX4 disease C0346153 Biomarker 0.33 disgenet
Breast Cancer, Familial SLX4 disease C0346153 GeneticVariation 0.33 disgenet
Breast Cancer, Familial MLH1 disease C0346153 Biomarker 0.32 disgenet
Breast Cancer, Familial MRE11 disease C0346153 GeneticVariation 0.32 disgenet
Breast Cancer, Familial MLH1 disease C0346153 GeneticVariation 0.32 disgenet
Breast Cancer, Familial MRE11 disease C0346153 Biomarker 0.32 disgenet
Breast Cancer, Familial RECQL disease C0346153 GeneticVariation 0.32 disgenet
Breast Cancer, Familial CHEK1 disease C0346153 Biomarker 0.32 disgenet
Breast Cancer, Familial RAD51C disease C0346153 Biomarker 0.32 disgenet
Breast Cancer, Familial RECQL disease C0346153 Biomarker 0.32 disgenet
Breast Cancer, Familial CHEK1 disease C0346153 GeneticVariation 0.32 disgenet
Breast Cancer, Familial MUTYH disease C0346153 GeneticVariation 0.32 disgenet
Breast Cancer, Familial MUTYH disease C0346153 Biomarker 0.32 disgenet
Breast Cancer, Familial PPM1D disease C0346153 GeneticVariation 0.31 orphanet , disgenet
Breast Cancer, Familial MSH2 disease C0346153 Biomarker 0.31 disgenet
Breast Cancer, Familial MSH6 disease C0346153 Biomarker 0.31 disgenet
Breast Cancer, Familial CDH1 disease C0346153 GeneticVariation 0.31 orphanet , disgenet
Breast Cancer, Familial MCPH1 disease C0346153 GeneticVariation 0.31 disgenet
Breast Cancer, Familial MSH2 disease C0346153 GeneticVariation 0.31 disgenet
Breast Cancer, Familial MSH6 disease C0346153 GeneticVariation 0.31 disgenet
Breast Cancer, Familial CDH1 disease C0346153 Biomarker 0.31 orphanet , disgenet
Breast Cancer, Familial MCPH1 disease C0346153 Biomarker 0.31 disgenet
Breast Cancer, Familial PIK3CA disease C0346153 Biomarker 0.3 disgenet
Breast Cancer, Familial GEN1 disease C0346153 Biomarker 0.3 disgenet
Breast Cancer, Familial PMS2 disease C0346153 Biomarker 0.3 disgenet
Breast Cancer, Familial SLC22A18 disease C0346153 GeneticVariation 0.3 orphanet , disgenet
Breast Cancer, Familial RINT1 disease C0346153 Biomarker 0.3 disgenet
Breast Cancer, Familial RAD54L disease C0346153 GeneticVariation 0.3 orphanet , disgenet
Breast Cancer, Familial KLLN disease C0346153 SusceptibilityMutation 0.3 orphanet , disgenet
Breast Cancer, Familial EPCAM disease C0346153 Biomarker 0.3 disgenet
Breast Cancer, Familial TP53 disease C0346153 GeneticVariation 0.1 disgenet
Breast Cancer, Familial TP53 disease C0346153 Biomarker 0.1 disgenet
Breast Cancer, Familial RAD51 disease C0346153 Biomarker 0.1 disgenet
Breast Cancer, Familial RET disease C0346153 CausalMutation 0.1 disgenet
Breast Cancer, Familial RAD51 disease C0346153 GeneticVariation 0.1 disgenet
Breast Cancer, Familial ERBB2 disease C0346153 Biomarker 0.08 disgenet
Breast Cancer, Familial ERBB2 disease C0346153 GeneticVariation 0.08 disgenet
Breast Cancer, Familial BRIP1 disease C0346153 GeneticVariation 0.08 disgenet
Breast Cancer, Familial ERBB2 disease C0346153 AlteredExpression 0.08 disgenet
Breast Cancer, Familial BRIP1 disease C0346153 Biomarker 0.08 disgenet
Breast Cancer, Familial ESR1 disease C0346153 Biomarker 0.07 disgenet
Breast Cancer, Familial ESR1 disease C0346153 AlteredExpression 0.07 disgenet
Breast Cancer, Familial ESR1 disease C0346153 GeneticVariation 0.07 disgenet
Breast Cancer, Familial PTEN disease C0346153 GeneticVariation 0.06 disgenet
Breast Cancer, Familial BRCA3 disease C0346153 Biomarker 0.06 disgenet
Breast Cancer, Familial BRCA3 disease C0346153 GeneticVariation 0.06 disgenet
Breast Cancer, Familial PTEN disease C0346153 Biomarker 0.06 disgenet
Breast Cancer, Familial FANCM disease C0346153 GeneticVariation 0.05 disgenet
Breast Cancer, Familial PARP1 disease C0346153 GeneticVariation 0.05 disgenet
Breast Cancer, Familial FANCM disease C0346153 Biomarker 0.05 disgenet
Breast Cancer, Familial PARP1 disease C0346153 AlteredExpression 0.05 disgenet
Breast Cancer, Familial PARP1 disease C0346153 Biomarker 0.05 disgenet
Breast Cancer, Familial COL11A2 disease C0346153 Biomarker 0.04 disgenet
Breast Cancer, Familial COL11A2 disease C0346153 GeneticVariation 0.04 disgenet
Breast Cancer, Familial ARL11 disease C0346153 GeneticVariation 0.04 disgenet
Breast Cancer, Familial XRCC1 disease C0346153 GeneticVariation 0.04 disgenet
Breast Cancer, Familial IGF1 disease C0346153 Biomarker 0.03 disgenet
Breast Cancer, Familial NLRP2 disease C0346153 Biomarker 0.03 disgenet
Breast Cancer, Familial NLRP2 disease C0346153 GeneticVariation 0.03 disgenet
Breast Cancer, Familial STK11 disease C0346153 GeneticVariation 0.03 disgenet
Breast Cancer, Familial MDM2 disease C0346153 GeneticVariation 0.03 disgenet
Breast Cancer, Familial PHB disease C0346153 GeneticVariation 0.03 disgenet
Breast Cancer, Familial IGF1 disease C0346153 GeneticVariation 0.03 disgenet
Breast Cancer, Familial RASSF1 disease C0346153 PosttranslationalModification 0.03 disgenet
Breast Cancer, Familial RASSF1 disease C0346153 Biomarker 0.03 disgenet
Breast Cancer, Familial GADD45A disease C0346153 GeneticVariation 0.03 disgenet
Breast Cancer, Familial GADD45A disease C0346153 Biomarker 0.03 disgenet
Breast Cancer, Familial RASSF1 disease C0346153 GeneticVariation 0.03 disgenet
Breast Cancer, Familial HSD17B2 disease C0346153 GeneticVariation 0.03 disgenet
Breast Cancer, Familial TSG101 disease C0346153 Biomarker 0.03 disgenet
Breast Cancer, Familial HSD17B2 disease C0346153 Biomarker 0.03 disgenet
Breast Cancer, Familial BACH1 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial FGFR2 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial MLXIP disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial VEGFA disease C0346153 AlteredExpression 0.02 disgenet
Breast Cancer, Familial PRL disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial MYLIP disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial VEGFA disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial CD44 disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial WRN disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial WRN disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial MYLIP disease C0346153 AlteredExpression 0.02 disgenet
Breast Cancer, Familial FANCI disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial CYP1A1 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial UIMC1 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial AKAP13 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial FANCD2 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial CYP17A1 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial MGMT disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial BLM disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial MARCHF8 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial MLXIP disease C0346153 AlteredExpression 0.02 disgenet
Breast Cancer, Familial GSTP1 disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial BACH1 disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial FANCD2 disease C0346153 AlteredExpression 0.02 disgenet
Breast Cancer, Familial EMSY disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial HSD17B1 disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial MTUS1 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial GSTP1 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial HSD17B1 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial EMSY disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial MARCHF8 disease C0346153 AlteredExpression 0.02 disgenet
Breast Cancer, Familial BLM disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial TCF7L2 disease C0346153 GeneticVariation 0.02 disgenet
Breast Cancer, Familial RTEL1 disease C0346153 Biomarker 0.02 disgenet
Breast Cancer, Familial HTC2 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial HIF1A disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial MIR21 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial RHOBTB2 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial TGFBR1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial PER1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial CASP10 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial COMT disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial MIR17 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial MIR17HG disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial CYP2D6 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial IGFBP3 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial MIR27A disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial PIF1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial TLX1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial GSTT1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial MTHFR disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial ABRAXAS1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial CT55 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial CASP8 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial HRAS disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial KRAS disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial TEK disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial AATF disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial ARHGEF28 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial SAFB2 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial PPARGC1A disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial FHIT disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial RCC1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial SOAT1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial EP300 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial CLSPN disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial BCORL1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial MSR1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial CDKN2A disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial HMGA1 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial TPD52 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial MYC disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial EGFR disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial SAFB disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial DICER1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial PPARGC1B disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial CCND1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial GSTM1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial TOPBP1 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial AKAP10 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial CLDN1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial MIR1179 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial VPS51 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial FANCL disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial SLC9A3R1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial CD24 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial CTNNB1 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial PTPRG disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial BRD7 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial MAST1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial BABAM1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial CXCL10 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial CENPE disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial CAV1 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial NFKB1 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial SH3RF1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial RECQL5 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial POLH disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial HPGDS disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial MDM4 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial EXO1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial FOXP1 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial TEX15 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial CCND2 disease C0346153 AlteredExpression 0.01 disgenet
Breast Cancer, Familial PDLIM7 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial SULT1A1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial FANCB disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial PSC disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial FOXD3 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial FOXC1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial MIR499A disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial XRCC3 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial UCHL1 disease C0346153 PosttranslationalModification 0.01 disgenet
Breast Cancer, Familial CYP19A1 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial TOX3 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial WIF1 disease C0346153 PosttranslationalModification 0.01 disgenet
Breast Cancer, Familial ATR disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial PER2 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial ABCB1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial KMT2A disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial POLQ disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial LHFPL6 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial MIR30C1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial APC disease C0346153 PosttranslationalModification 0.01 disgenet
Breast Cancer, Familial MIR30C2 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial SFN disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial TM7SF2 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial FANCA disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial KLK14 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial ANGPT2 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial BRAP disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial ANGPT1 disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial BUB1B disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial RAD51B disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial KRT88P disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial ERCC4 disease C0346153 PosttranslationalModification 0.01 disgenet
Breast Cancer, Familial AR disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial MSH3 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial JAK2 disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial TTK disease C0346153 GeneticVariation 0.01 disgenet
Breast Cancer, Familial LSS disease C0346153 Biomarker 0.01 disgenet
Breast Cancer, Familial LMO4 disease C0346153 Biomarker 0.01 disgenet
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