Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Beckwith Wiedemann Syndrome CDKN1C disease C0004903 CausalMutation 0.8 orphanet , disgenet
Beckwith Wiedemann Syndrome CDKN1C disease C0004903 GeneticVariation 0.8 orphanet , disgenet
Beckwith Wiedemann Syndrome CDKN1C disease C0004903 AlteredExpression 0.8 orphanet , disgenet
Beckwith Wiedemann Syndrome CDKN1C disease C0004903 Biomarker 0.8 orphanet , disgenet
Beckwith Wiedemann Syndrome CDKN1C disease C0004903 PosttranslationalModification 0.8 orphanet , disgenet
Beckwith Wiedemann Syndrome IGF2 disease C0004903 GeneticVariation 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome KCNQ1OT1 disease C0004903 AlteredExpression 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome IGF2 disease C0004903 Biomarker 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome H19 disease C0004903 PosttranslationalModification 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome IGF2 disease C0004903 PosttranslationalModification 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome H19 disease C0004903 GeneticVariation 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome H19 disease C0004903 Biomarker 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome KCNQ1OT1 disease C0004903 Biomarker 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome IGF2 disease C0004903 AlteredExpression 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome KCNQ1OT1 disease C0004903 PosttranslationalModification 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome KCNQ1OT1 disease C0004903 GeneticVariation 0.6 orphanet , disgenet
Beckwith Wiedemann Syndrome KCNQ1 disease C0004903 Biomarker 0.5 disgenet
Beckwith Wiedemann Syndrome KCNQ1 disease C0004903 GeneticVariation 0.5 disgenet
Beckwith Wiedemann Syndrome KCNQ1 disease C0004903 PosttranslationalModification 0.5 disgenet
Beckwith Wiedemann Syndrome KCNQ1 disease C0004903 CausalMutation 0.5 disgenet
Beckwith Wiedemann Syndrome NSD1 disease C0004903 GeneticVariation 0.43 orphanet , disgenet
Beckwith Wiedemann Syndrome NSD1 disease C0004903 Biomarker 0.43 orphanet , disgenet
Beckwith Wiedemann Syndrome NSD1 disease C0004903 CausalMutation 0.43 orphanet , disgenet
Beckwith Wiedemann Syndrome H19-ICR disease C0004903 AlteredExpression 0.4 disgenet
Beckwith Wiedemann Syndrome H19-ICR disease C0004903 Biomarker 0.4 disgenet
Beckwith Wiedemann Syndrome H19-ICR disease C0004903 PosttranslationalModification 0.4 disgenet
Beckwith Wiedemann Syndrome H19-ICR disease C0004903 GeneticVariation 0.4 disgenet
Beckwith Wiedemann Syndrome SPTBN1 disease C0004903 Biomarker 0.21 disgenet
Beckwith Wiedemann Syndrome SPTBN1 disease C0004903 GeneticVariation 0.21 disgenet
Beckwith Wiedemann Syndrome PIK3CA disease C0004903 Biomarker 0.2 disgenet
Beckwith Wiedemann Syndrome CIB2 disease C0004903 Biomarker 0.1 disgenet
Beckwith Wiedemann Syndrome CIB2 disease C0004903 AlteredExpression 0.1 disgenet
Beckwith Wiedemann Syndrome TGM1 disease C0004903 GeneticVariation 0.1 disgenet
Beckwith Wiedemann Syndrome CIB2 disease C0004903 GeneticVariation 0.1 disgenet
Beckwith Wiedemann Syndrome TGM1 disease C0004903 PosttranslationalModification 0.1 disgenet
Beckwith Wiedemann Syndrome TGM1 disease C0004903 Biomarker 0.1 disgenet
Beckwith Wiedemann Syndrome CTCF disease C0004903 Biomarker 0.08 disgenet
Beckwith Wiedemann Syndrome CTCF disease C0004903 GeneticVariation 0.08 disgenet
Beckwith Wiedemann Syndrome WDR20 disease C0004903 PosttranslationalModification 0.06 disgenet
Beckwith Wiedemann Syndrome WDR20 disease C0004903 GeneticVariation 0.06 disgenet
Beckwith Wiedemann Syndrome WDR20 disease C0004903 Biomarker 0.06 disgenet
Beckwith Wiedemann Syndrome RSS disease C0004903 PosttranslationalModification 0.04 disgenet
Beckwith Wiedemann Syndrome RSS disease C0004903 Biomarker 0.04 disgenet
Beckwith Wiedemann Syndrome UROD disease C0004903 GeneticVariation 0.04 disgenet
Beckwith Wiedemann Syndrome AFP disease C0004903 AlteredExpression 0.04 disgenet
Beckwith Wiedemann Syndrome UROD disease C0004903 Biomarker 0.04 disgenet
Beckwith Wiedemann Syndrome AFP disease C0004903 Biomarker 0.04 disgenet
Beckwith Wiedemann Syndrome IGF1 disease C0004903 Biomarker 0.03 disgenet
Beckwith Wiedemann Syndrome ELN disease C0004903 GeneticVariation 0.03 disgenet
Beckwith Wiedemann Syndrome H3P47 disease C0004903 AlteredExpression 0.03 disgenet
Beckwith Wiedemann Syndrome H3P47 disease C0004903 PosttranslationalModification 0.03 disgenet
Beckwith Wiedemann Syndrome ELN disease C0004903 Biomarker 0.03 disgenet
Beckwith Wiedemann Syndrome HRAS disease C0004903 GeneticVariation 0.03 disgenet
Beckwith Wiedemann Syndrome GTF2I disease C0004903 GeneticVariation 0.03 disgenet
Beckwith Wiedemann Syndrome HRAS disease C0004903 Biomarker 0.03 disgenet
Beckwith Wiedemann Syndrome PLAGL1 disease C0004903 Biomarker 0.03 disgenet
Beckwith Wiedemann Syndrome CORO1A disease C0004903 AlteredExpression 0.03 disgenet
Beckwith Wiedemann Syndrome H3P47 disease C0004903 Biomarker 0.03 disgenet
Beckwith Wiedemann Syndrome GTF2I disease C0004903 Biomarker 0.03 disgenet
Beckwith Wiedemann Syndrome GPC3 disease C0004903 AlteredExpression 0.03 disgenet
Beckwith Wiedemann Syndrome GPC3 disease C0004903 GeneticVariation 0.03 disgenet
Beckwith Wiedemann Syndrome CORO1A disease C0004903 Biomarker 0.03 disgenet
Beckwith Wiedemann Syndrome CORO1A disease C0004903 PosttranslationalModification 0.03 disgenet
Beckwith Wiedemann Syndrome SMS disease C0004903 PosttranslationalModification 0.03 disgenet
Beckwith Wiedemann Syndrome PLAGL1 disease C0004903 GeneticVariation 0.03 disgenet
Beckwith Wiedemann Syndrome SMS disease C0004903 Biomarker 0.03 disgenet
Beckwith Wiedemann Syndrome DNMT1 disease C0004903 PosttranslationalModification 0.02 disgenet
Beckwith Wiedemann Syndrome GTF2IRD1 disease C0004903 GeneticVariation 0.02 disgenet
Beckwith Wiedemann Syndrome GNAS disease C0004903 GeneticVariation 0.02 disgenet
Beckwith Wiedemann Syndrome GNAS disease C0004903 Biomarker 0.02 disgenet
Beckwith Wiedemann Syndrome GRB10 disease C0004903 Biomarker 0.02 disgenet
Beckwith Wiedemann Syndrome GRB10 disease C0004903 GeneticVariation 0.02 disgenet
Beckwith Wiedemann Syndrome GTF2IRD1 disease C0004903 Biomarker 0.02 disgenet
Beckwith Wiedemann Syndrome DLK1 disease C0004903 Biomarker 0.02 disgenet
Beckwith Wiedemann Syndrome DNMT1 disease C0004903 GeneticVariation 0.02 disgenet
Beckwith Wiedemann Syndrome CALCA disease C0004903 Biomarker 0.02 disgenet
Beckwith Wiedemann Syndrome IGF2R disease C0004903 Biomarker 0.02 disgenet
Beckwith Wiedemann Syndrome CALCA disease C0004903 GeneticVariation 0.02 disgenet
Beckwith Wiedemann Syndrome MYOD1 disease C0004903 Biomarker 0.02 disgenet
Beckwith Wiedemann Syndrome MYOD1 disease C0004903 GeneticVariation 0.02 disgenet
Beckwith Wiedemann Syndrome HIC1 disease C0004903 GeneticVariation 0.02 disgenet
Beckwith Wiedemann Syndrome SMUG1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF143 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome NRAS disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome C11orf21 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome PERCC1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF215 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome TBPL1 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome IL1RL1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome SMAD3 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome ZDBF2 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF214 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome KCNJ11 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF44 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome ASAH1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome POU5F1 disease C0004903 PosttranslationalModification 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF436 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome DEL11P13 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome MTHFR disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF501 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome JBS disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome CD81 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome POU5F1P4 disease C0004903 PosttranslationalModification 0.01 disgenet
Beckwith Wiedemann Syndrome S100A8 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome CBSL disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome POU5F1P3 disease C0004903 PosttranslationalModification 0.01 disgenet
Beckwith Wiedemann Syndrome PAX6 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome WEE1 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome PLXNA2 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome IFT46 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome NLRP2 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome ABCC8 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome CMTR1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF629 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome PHPT1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome SOX3 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome TFPI disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome LGALS1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome VPS51 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome MAT1A disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome SOX2 disease C0004903 PosttranslationalModification 0.01 disgenet
Beckwith Wiedemann Syndrome ZACN disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome SNRPN disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome TP53 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome HTC2 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome TBL2 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome SLC22A18 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome WT1 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome TRPM5 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome DDX11 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome PALB2 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF569 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome NLRP7 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome ZFP57 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome ATAD5 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome DIO3 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome PTH disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome TERT disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome CD48 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome AMER1 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome TRPM1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome LMO1 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome CEND1 disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome FRA18C disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome APC disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome IGF1R disease C0004903 AlteredExpression 0.01 disgenet
Beckwith Wiedemann Syndrome ZNF763 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome INS-IGF2 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome PGAP2 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome CBS disease C0004903 GeneticVariation 0.01 disgenet
Beckwith Wiedemann Syndrome RASSF7 disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome IH disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome SGCE disease C0004903 Biomarker 0.01 disgenet
Beckwith Wiedemann Syndrome TYRP1 disease C0004903 GeneticVariation 0.01 disgenet
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