Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Simpson-Golabi-Behmel syndrome GPC3 disease C0796154 GeneticVariation 1 orphanet , disgenet
Simpson-Golabi-Behmel syndrome GPC3 disease C0796154 CausalMutation 1 orphanet , disgenet
Simpson-Golabi-Behmel syndrome GPC3 disease C0796154 AlteredExpression 1 orphanet , disgenet
Simpson-Golabi-Behmel syndrome GPC3 disease C0796154 Biomarker 1 orphanet , disgenet
Simpson-Golabi-Behmel syndrome GPC3 disease C0796154 GermlineCausalMutation 1 orphanet , disgenet
Simpson-Golabi-Behmel syndrome GPC4 disease C0796154 GeneticVariation 0.57 orphanet , disgenet
Simpson-Golabi-Behmel syndrome GPC4 disease C0796154 Biomarker 0.57 orphanet , disgenet
Simpson-Golabi-Behmel syndrome RETSAT disease C0796154 Biomarker 0.3 disgenet
Simpson-Golabi-Behmel syndrome TNF disease C0796154 GeneticVariation 0.03 disgenet
Simpson-Golabi-Behmel syndrome TNF disease C0796154 Biomarker 0.03 disgenet
Simpson-Golabi-Behmel syndrome HPRT1 disease C0796154 Biomarker 0.02 disgenet
Simpson-Golabi-Behmel syndrome ADIPOQ disease C0796154 Biomarker 0.02 disgenet
Simpson-Golabi-Behmel syndrome FTO disease C0796154 AlteredExpression 0.02 disgenet
Simpson-Golabi-Behmel syndrome LEP disease C0796154 Biomarker 0.02 disgenet
Simpson-Golabi-Behmel syndrome FTO disease C0796154 Biomarker 0.02 disgenet
Simpson-Golabi-Behmel syndrome CCL2 disease C0796154 AlteredExpression 0.02 disgenet
Simpson-Golabi-Behmel syndrome ADIPOQ disease C0796154 AlteredExpression 0.02 disgenet
Simpson-Golabi-Behmel syndrome HPRT1 disease C0796154 GeneticVariation 0.02 disgenet
Simpson-Golabi-Behmel syndrome LEP disease C0796154 AlteredExpression 0.02 disgenet
Simpson-Golabi-Behmel syndrome CXCL8 disease C0796154 AlteredExpression 0.02 disgenet
Simpson-Golabi-Behmel syndrome PPARG disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome CD44 disease C0796154 GeneticVariation 0.01 disgenet
Simpson-Golabi-Behmel syndrome HSPD1 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome IGF1 disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome LMLN disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome SLC2A4 disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome NAMPT disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome GPC1 disease C0796154 GeneticVariation 0.01 disgenet
Simpson-Golabi-Behmel syndrome TNFSF10 disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome POTEF disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome ACTB disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome CDKN1C disease C0796154 GeneticVariation 0.01 disgenet
Simpson-Golabi-Behmel syndrome CAND2 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome MIR146A disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome HSPA14 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome HCA1 disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome MAPK3 disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome MFAP5 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome MIR107 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome IFI16 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome GHR disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome TIMP3 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome HTC2 disease C0796154 GeneticVariation 0.01 disgenet
Simpson-Golabi-Behmel syndrome APLN disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome GPC5 disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome GPC6 disease C0796154 GeneticVariation 0.01 disgenet
Simpson-Golabi-Behmel syndrome PPARA disease C0796154 GeneticVariation 0.01 disgenet
Simpson-Golabi-Behmel syndrome IGF2 disease C0796154 GeneticVariation 0.01 disgenet
Simpson-Golabi-Behmel syndrome UCP1 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome AFP disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome FGF1 disease C0796154 Biomarker 0.01 disgenet
Simpson-Golabi-Behmel syndrome COLGALT1 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome ITGB3 disease C0796154 AlteredExpression 0.01 disgenet
Simpson-Golabi-Behmel syndrome CTNNB1 disease C0796154 GeneticVariation 0.01 disgenet
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