Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Opitz GBBB Syndrome, X-Linked MID1 disease C2936904 GeneticVariation 0.9 disgenet
Opitz GBBB Syndrome, X-Linked MID1 disease C2936904 AlteredExpression 0.9 disgenet
Opitz GBBB Syndrome, X-Linked MID1 disease C2936904 Biomarker 0.9 disgenet
Opitz GBBB Syndrome, X-Linked MID1 disease C2936904 GermlineCausalMutation 0.9 disgenet
Opitz GBBB Syndrome, X-Linked MID2 disease C2936904 Biomarker 0.03 disgenet
Opitz GBBB Syndrome, X-Linked AKT1 disease C2936904 Biomarker 0.02 disgenet
Opitz GBBB Syndrome, X-Linked BMP2 disease C2936904 Biomarker 0.02 disgenet
Opitz GBBB Syndrome, X-Linked PTPA disease C2936904 GeneticVariation 0.02 disgenet
Opitz GBBB Syndrome, X-Linked AKT1 disease C2936904 AlteredExpression 0.02 disgenet
Opitz GBBB Syndrome, X-Linked PTPA disease C2936904 Biomarker 0.02 disgenet
Opitz GBBB Syndrome, X-Linked TP53 disease C2936904 Biomarker 0.02 disgenet
Opitz GBBB Syndrome, X-Linked KLK3 disease C2936904 AlteredExpression 0.02 disgenet
Opitz GBBB Syndrome, X-Linked KLK3 disease C2936904 Biomarker 0.02 disgenet
Opitz GBBB Syndrome, X-Linked F3 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MIR592 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked NR2C2 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked KEAP1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked CXCR4 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PRKAB1 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PSAT1 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked NFE2L2 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked SPECC1L disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked SOX18 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MIR367 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PIK3CB disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MEFV disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked TP63 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked SHC3 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked CD276 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked FRA16D disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked ITGA3 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MIR675 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked CCAT2 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked CTCF disease C2936904 PosttranslationalModification 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PIK3CA disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MIR106A disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked TMEM189-UBE2V1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked GABPA disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked TMEM189 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PROS1 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked IBSP disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked TRIM17 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PPP2CA disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked UBE2V1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked IGBP1 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PRKAA2 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked ASXL1 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked TMSB10 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked SERPINF1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MMP9 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked JAK2 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked HMOX1 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked EGFR disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked NPEPPS disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked HERC6 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked ERCC1 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked TOPBP1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked DLX3 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked RAG1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PRKAA1 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked IGF2 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PIF1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked CALN1 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PIK3CD disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MTHFR disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked HMGB1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked RUNX2 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked ERCC2 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked COIL disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MGMT disease C2936904 PosttranslationalModification 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MID1IP1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked SMUG1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked AFAP1-AS1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MIR211 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MAP3K7 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MTX1 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked GPC3 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MYC disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked EPHB2 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked MAPK1 disease C2936904 AlteredExpression 0.01 disgenet
Opitz GBBB Syndrome, X-Linked RFPL1 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PIK3CG disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked HK2 disease C2936904 Biomarker 0.01 disgenet
Opitz GBBB Syndrome, X-Linked JAG2 disease C2936904 GeneticVariation 0.01 disgenet
Opitz GBBB Syndrome, X-Linked PLAG1 disease C2936904 AlteredExpression 0.01 disgenet
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