Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, Williams GTF2IRD1 disease C0175702 GeneticVariation 0.6 orphanet , disgenet
Syndrome, Williams GTF2IRD1 disease C0175702 Biomarker 0.6 orphanet , disgenet
Syndrome, Williams GTF2IRD1 disease C0175702 AlteredExpression 0.6 orphanet , disgenet
Syndrome, Williams GTF2I disease C0175702 GeneticVariation 0.6 orphanet , disgenet
Syndrome, Williams BAZ1B disease C0175702 Biomarker 0.6 orphanet , disgenet
Syndrome, Williams GTF2I disease C0175702 AlteredExpression 0.6 orphanet , disgenet
Syndrome, Williams GTF2I disease C0175702 Biomarker 0.6 orphanet , disgenet
Syndrome, Williams LIMK1 disease C0175702 Biomarker 0.6 orphanet , disgenet
Syndrome, Williams LIMK1 disease C0175702 GeneticVariation 0.6 orphanet , disgenet
Syndrome, Williams BAZ1B disease C0175702 GeneticVariation 0.6 orphanet , disgenet
Syndrome, Williams DLG4 disease C0175702 Biomarker 0.51 disgenet
Syndrome, Williams DLG4 disease C0175702 GeneticVariation 0.51 disgenet
Syndrome, Williams ELN disease C0175702 AlteredExpression 0.4 orphanet , disgenet
Syndrome, Williams ELN disease C0175702 GeneticVariation 0.4 orphanet , disgenet
Syndrome, Williams ELN disease C0175702 Biomarker 0.4 orphanet , disgenet
Syndrome, Williams MLXIPL disease C0175702 Biomarker 0.33 orphanet , disgenet
Syndrome, Williams MLXIPL disease C0175702 AlteredExpression 0.33 orphanet , disgenet
Syndrome, Williams FKBP6 disease C0175702 Biomarker 0.32 orphanet , disgenet
Syndrome, Williams FKBP6 disease C0175702 GeneticVariation 0.32 orphanet , disgenet
Syndrome, Williams CLIP2 disease C0175702 Biomarker 0.27 orphanet , disgenet
Syndrome, Williams CLIP2 disease C0175702 GeneticVariation 0.27 orphanet , disgenet
Syndrome, Williams FZD9 disease C0175702 Biomarker 0.24 disgenet
Syndrome, Williams FZD9 disease C0175702 GeneticVariation 0.24 disgenet
Syndrome, Williams EIF4H disease C0175702 Biomarker 0.22 orphanet , disgenet
Syndrome, Williams LOX disease C0175702 Biomarker 0.2 disgenet
Syndrome, Williams SRC disease C0175702 Biomarker 0.2 disgenet
Syndrome, Williams FBN1 disease C0175702 GeneticVariation 0.08 disgenet
Syndrome, Williams STX1A disease C0175702 Biomarker 0.08 orphanet , disgenet
Syndrome, Williams STX1A disease C0175702 GeneticVariation 0.08 orphanet , disgenet
Syndrome, Williams FBN1 disease C0175702 Biomarker 0.08 disgenet
Syndrome, Williams ADAMTS17 disease C0175702 Biomarker 0.07 disgenet
Syndrome, Williams ADAMTS17 disease C0175702 GeneticVariation 0.07 disgenet
Syndrome, Williams ADAMTS10 disease C0175702 Biomarker 0.06 disgenet
Syndrome, Williams ADAMTS10 disease C0175702 GeneticVariation 0.06 disgenet
Syndrome, Williams GTF2IRD2 disease C0175702 Biomarker 0.06 orphanet , disgenet
Syndrome, Williams GTF2IRD2 disease C0175702 AlteredExpression 0.06 orphanet , disgenet
Syndrome, Williams NCF1 disease C0175702 GeneticVariation 0.05 orphanet , disgenet
Syndrome, Williams NCF1 disease C0175702 Biomarker 0.05 orphanet , disgenet
Syndrome, Williams RFC2 disease C0175702 GeneticVariation 0.04 orphanet , disgenet
Syndrome, Williams RFC2 disease C0175702 Biomarker 0.04 orphanet , disgenet
Syndrome, Williams BCL7B disease C0175702 Biomarker 0.03 orphanet , disgenet
Syndrome, Williams NSUN5 disease C0175702 Biomarker 0.03 disgenet
Syndrome, Williams FZD3 disease C0175702 Biomarker 0.03 disgenet
Syndrome, Williams FZD3 disease C0175702 AlteredExpression 0.03 disgenet
Syndrome, Williams BCL7B disease C0175702 GeneticVariation 0.03 orphanet , disgenet
Syndrome, Williams CALCA disease C0175702 Biomarker 0.03 disgenet
Syndrome, Williams NSUN5 disease C0175702 GeneticVariation 0.03 disgenet
Syndrome, Williams WRN disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams CDKN1C disease C0175702 GeneticVariation 0.02 disgenet
Syndrome, Williams H2AX disease C0175702 AlteredExpression 0.02 disgenet
Syndrome, Williams PDLIM1 disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams GTF2IP1 disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams CLDN3 disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams ZRS disease C0175702 GeneticVariation 0.02 disgenet
Syndrome, Williams WRN disease C0175702 GeneticVariation 0.02 disgenet
Syndrome, Williams S100A12 disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams ATR disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams GTF2IP1 disease C0175702 AlteredExpression 0.02 disgenet
Syndrome, Williams H2AX disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams BUD23 disease C0175702 Biomarker 0.02 orphanet , disgenet
Syndrome, Williams ATR disease C0175702 GeneticVariation 0.02 disgenet
Syndrome, Williams ARSD disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams CDKN1C disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams LAT2 disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams DECR1 disease C0175702 AlteredExpression 0.02 disgenet
Syndrome, Williams CLDN4 disease C0175702 Biomarker 0.02 disgenet
Syndrome, Williams HSPB2 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams NCF4 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams CBLL2 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams PRPF31 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams MUL1 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams HSPB1 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams PCLO disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams EBPL disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams PMP22 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams PDLIM5 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams TG disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams ZNF569 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams CTCF disease C0175702 PosttranslationalModification 0.01 disgenet
Syndrome, Williams STAG3 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams FZD1 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams AVP disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams SERPINA1 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams ACTB disease C0175702 AlteredExpression 0.01 disgenet
Syndrome, Williams ADAMTSL2 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams ZNF436 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams ZNF501 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams DMBT1 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams CACNA2D1 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams ZNF143 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams ZNF44 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams HTC2 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams CALCR disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams BCL7A disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams ELK3 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams ZNF24 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams TBL2 disease C0175702 Biomarker 0.01 orphanet , disgenet
Syndrome, Williams TRIM50 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams TRIM73 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams LTBP2 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams VDR disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams HNF1B disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams DNAJC30 disease C0175702 Biomarker 0.01 orphanet , disgenet
Syndrome, Williams RCC1L disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams PRKN disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams PCNA disease C0175702 AlteredExpression 0.01 disgenet
Syndrome, Williams PMS2 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams PLF disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams MBNL1 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams DDX11 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams PLS3 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams TRPC3 disease C0175702 AlteredExpression 0.01 disgenet
Syndrome, Williams POMC disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams SMAD1 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams CLIP1 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams ZNF763 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams NSD1 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams SERPING1 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams SYN1 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams HSPB3 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams TRIM74 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams FMR1 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams COX8A disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams GABRA1 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams TRPV6 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams SIRPA disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams FZD5 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams FRA7G disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams ZNF629 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams SPRR2A disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams PRDM9 disease C0175702 GeneticVariation 0.01 disgenet
Syndrome, Williams WBSCR23 disease C0175702 Biomarker 0.01 disgenet
Syndrome, Williams TMEM270 NA C0175702 NA NA orphanet
Syndrome, Williams METTL27 NA C0175702 NA NA orphanet
Syndrome, Williams VPS37D NA C0175702 NA NA orphanet
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