Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Nijmegen Breakage Syndrome NBN disease C0398791 CausalMutation 1 orphanet , disgenet
Nijmegen Breakage Syndrome NBN disease C0398791 AlteredExpression 1 orphanet , disgenet
Nijmegen Breakage Syndrome NBN disease C0398791 GeneticVariation 1 orphanet , disgenet
Nijmegen Breakage Syndrome NBN disease C0398791 PosttranslationalModification 1 orphanet , disgenet
Nijmegen Breakage Syndrome NBN disease C0398791 Biomarker 1 orphanet , disgenet
Nijmegen Breakage Syndrome MRE11 disease C0398791 Biomarker 0.1 orphanet , disgenet
Nijmegen Breakage Syndrome RAD50 disease C0398791 GeneticVariation 0.1 orphanet , disgenet
Nijmegen Breakage Syndrome RAD50 disease C0398791 Biomarker 0.1 orphanet , disgenet
Nijmegen Breakage Syndrome TP53 disease C0398791 GeneticVariation 0.1 disgenet
Nijmegen Breakage Syndrome TP53 disease C0398791 AlteredExpression 0.1 disgenet
Nijmegen Breakage Syndrome TP53 disease C0398791 Biomarker 0.1 disgenet
Nijmegen Breakage Syndrome MRE11 disease C0398791 GeneticVariation 0.1 orphanet , disgenet
Nijmegen Breakage Syndrome ATM disease C0398791 GeneticVariation 0.1 disgenet
Nijmegen Breakage Syndrome NLRP2 disease C0398791 PosttranslationalModification 0.1 disgenet
Nijmegen Breakage Syndrome MRE11 disease C0398791 AlteredExpression 0.1 orphanet , disgenet
Nijmegen Breakage Syndrome NLRP2 disease C0398791 Biomarker 0.1 disgenet
Nijmegen Breakage Syndrome ATM disease C0398791 AlteredExpression 0.1 disgenet
Nijmegen Breakage Syndrome NLRP2 disease C0398791 AlteredExpression 0.1 disgenet
Nijmegen Breakage Syndrome NLRP2 disease C0398791 GeneticVariation 0.1 disgenet
Nijmegen Breakage Syndrome ATM disease C0398791 Biomarker 0.1 disgenet
Nijmegen Breakage Syndrome ATM disease C0398791 PosttranslationalModification 0.1 disgenet
Nijmegen Breakage Syndrome NME1 disease C0398791 AlteredExpression 0.06 disgenet
Nijmegen Breakage Syndrome NME1 disease C0398791 Biomarker 0.06 disgenet
Nijmegen Breakage Syndrome NME1 disease C0398791 GeneticVariation 0.06 disgenet
Nijmegen Breakage Syndrome MKKS disease C0398791 GeneticVariation 0.04 disgenet
Nijmegen Breakage Syndrome MKKS disease C0398791 Biomarker 0.04 disgenet
Nijmegen Breakage Syndrome BRCA1 disease C0398791 Biomarker 0.03 disgenet
Nijmegen Breakage Syndrome BRCA1 disease C0398791 AlteredExpression 0.03 disgenet
Nijmegen Breakage Syndrome BRCA1 disease C0398791 GeneticVariation 0.03 disgenet
Nijmegen Breakage Syndrome LIG4 disease C0398791 GeneticVariation 0.03 disgenet
Nijmegen Breakage Syndrome UBASH3B disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome MYC disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome UBASH3B disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome SIRT1 disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome H3P22 disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome XRCC3 disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome SIRT1 disease C0398791 AlteredExpression 0.02 disgenet
Nijmegen Breakage Syndrome XRCC1 disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome PTEN disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome BBS12 disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome PARP1 disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome MDM2 disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome MYC disease C0398791 AlteredExpression 0.02 disgenet
Nijmegen Breakage Syndrome XRCC3 disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome ANXA6 disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome TMED3 disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome BBS1 disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome PTEN disease C0398791 AlteredExpression 0.02 disgenet
Nijmegen Breakage Syndrome XRCC6 disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome ANXA6 disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome BBS1 disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome ATR disease C0398791 Biomarker 0.02 disgenet
Nijmegen Breakage Syndrome ATR disease C0398791 GeneticVariation 0.02 disgenet
Nijmegen Breakage Syndrome MRPL36 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome NHEJ1 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome MS4A1 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome IKZF1 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome TRBV20OR9-2 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome BBS4 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome BBS7 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome XPC disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome TERF2 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome FANCB disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome FANCF disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome CDKN1A disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome ARID5B disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome PIK3CD disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome TERF1 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome LIN28A disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome POU5F1P3 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome IGF1R disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome AFP disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome POU5F1P4 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome PIK3CA disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome ARL6 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome PIK3CB disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome TBPL1 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome MCPH1 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome POLH disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome IL18 disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome SLC12A9 disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome IFT172 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome KPNA2 disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome KLF4 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome BBS2 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome ERG disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome PECAM1 disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome FANCD2 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome IL2 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome TNFRSF11B disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome IGF1 disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome NANOG disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome SMC1A disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome TMPRSS2 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome KRT20 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome PHGDH disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome CBX5 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome POLQ disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome MIB1 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome LCK disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome BBS10 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome RAD52 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome IDH1 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome PDGFRB disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome PEG13 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome SOX2 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome VEGFA disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome BRIP1 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome RAD54B disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome POU5F1 disease C0398791 GeneticVariation 0.01 disgenet
Nijmegen Breakage Syndrome ELANE disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome TTC8 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome COL11A2 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome KMT2A disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome CDKN2A disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome HCAR1 disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome XRCC6P5 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome IL5 disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome TRH disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome H2AX disease C0398791 Biomarker 0.01 disgenet
Nijmegen Breakage Syndrome PIK3CG disease C0398791 AlteredExpression 0.01 disgenet
Nijmegen Breakage Syndrome TERT disease C0398791 Biomarker 0.01 disgenet
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