Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Neurofibromatosis 2 NF2 disease C0027832 CausalMutation 1 orphanet , disgenet
Neurofibromatosis 2 NF2 disease C0027832 AlteredExpression 1 orphanet , disgenet
Neurofibromatosis 2 NF2 disease C0027832 GeneticVariation 1 orphanet , disgenet
Neurofibromatosis 2 NF2 disease C0027832 PosttranslationalModification 1 orphanet , disgenet
Neurofibromatosis 2 NF2 disease C0027832 Biomarker 1 orphanet , disgenet
Neurofibromatosis 2 NF1 disease C0027832 Biomarker 0.26 disgenet
Neurofibromatosis 2 LZTR1 disease C0027832 Biomarker 0.1 disgenet
Neurofibromatosis 2 LZTR1 disease C0027832 GeneticVariation 0.1 disgenet
Neurofibromatosis 2 SMARCB1 disease C0027832 AlteredExpression 0.1 disgenet
Neurofibromatosis 2 SMARCB1 disease C0027832 GeneticVariation 0.1 disgenet
Neurofibromatosis 2 SMARCB1 disease C0027832 Biomarker 0.1 disgenet
Neurofibromatosis 2 EZR disease C0027832 GeneticVariation 0.08 disgenet
Neurofibromatosis 2 EZR disease C0027832 Biomarker 0.08 disgenet
Neurofibromatosis 2 ACTB disease C0027832 Biomarker 0.07 disgenet
Neurofibromatosis 2 ACTB disease C0027832 GeneticVariation 0.07 disgenet
Neurofibromatosis 2 CDKN2A disease C0027832 Biomarker 0.06 disgenet
Neurofibromatosis 2 CDKN2A disease C0027832 GeneticVariation 0.06 disgenet
Neurofibromatosis 2 RAC1 disease C0027832 Biomarker 0.05 disgenet
Neurofibromatosis 2 VEGFA disease C0027832 AlteredExpression 0.05 disgenet
Neurofibromatosis 2 BAP1 disease C0027832 Biomarker 0.05 disgenet
Neurofibromatosis 2 VEGFA disease C0027832 Biomarker 0.05 disgenet
Neurofibromatosis 2 RAC1 disease C0027832 AlteredExpression 0.05 disgenet
Neurofibromatosis 2 BAP1 disease C0027832 AlteredExpression 0.05 disgenet
Neurofibromatosis 2 BAP1 disease C0027832 GeneticVariation 0.05 disgenet
Neurofibromatosis 2 YAP1 disease C0027832 PosttranslationalModification 0.03 disgenet
Neurofibromatosis 2 YAP1 disease C0027832 AlteredExpression 0.03 disgenet
Neurofibromatosis 2 TP53 disease C0027832 Biomarker 0.03 disgenet
Neurofibromatosis 2 NEFH disease C0027832 GeneticVariation 0.03 disgenet
Neurofibromatosis 2 PAK1 disease C0027832 Biomarker 0.03 disgenet
Neurofibromatosis 2 NEFH disease C0027832 Biomarker 0.03 disgenet
Neurofibromatosis 2 EPB41L3 disease C0027832 Biomarker 0.03 disgenet
Neurofibromatosis 2 PGR disease C0027832 GeneticVariation 0.02 disgenet
Neurofibromatosis 2 CTNNB1 disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 COX8A disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 DNMT1 disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 COX8A disease C0027832 GeneticVariation 0.02 disgenet
Neurofibromatosis 2 MIB1 disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 CTNNB1 disease C0027832 AlteredExpression 0.02 disgenet
Neurofibromatosis 2 MDM2 disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 ETV5 disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 CXCR4 disease C0027832 AlteredExpression 0.02 disgenet
Neurofibromatosis 2 MIR296 disease C0027832 AlteredExpression 0.02 disgenet
Neurofibromatosis 2 PGR disease C0027832 AlteredExpression 0.02 disgenet
Neurofibromatosis 2 CD44 disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 MSN disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 PIK3CA disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 MIR296 disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 TCHP disease C0027832 Biomarker 0.02 disgenet
Neurofibromatosis 2 MDM2 disease C0027832 GeneticVariation 0.02 disgenet
Neurofibromatosis 2 CD44 disease C0027832 AlteredExpression 0.02 disgenet
Neurofibromatosis 2 DNMT1 disease C0027832 AlteredExpression 0.02 disgenet
Neurofibromatosis 2 TCHP disease C0027832 AlteredExpression 0.02 disgenet
Neurofibromatosis 2 PTGS2 disease C0027832 AlteredExpression 0.02 disgenet
Neurofibromatosis 2 LRP6 disease C0027832 PosttranslationalModification 0.01 disgenet
Neurofibromatosis 2 NEDD8 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 EGF disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 LIMK1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 VHL disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SMARCE1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 BIN2 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 AGO2 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 ENG disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 LIMK2 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 MORC2 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 PIK3CB disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 IGLV@ disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 CRYBB3 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 MIR152 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SOCS2 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 FLT1 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 BMS1P20 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 SHANK3 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 IL10 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 SEMA3F disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 MKI67 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 TAZ disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 RASSF1 disease C0027832 PosttranslationalModification 0.01 disgenet
Neurofibromatosis 2 CAPN5 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 ATN1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SMS disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 NHS disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 MEN1 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 DCAF1 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 CADM1 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 VTN disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SERPINE1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 RSS disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 BCL2 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 SGK1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 DNMT3A disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 HARS1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 MTAP disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 SRSF5 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SYK disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 MTCO2P12 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 MAP2K2 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 TEAD2 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 POSTN disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 PLG disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 CRYBB2 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 ESR1 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 PXN disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SIRT2 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 KDR disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 IL1B disease C0027832 PosttranslationalModification 0.01 disgenet
Neurofibromatosis 2 PRKAR1A disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 RDX disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 CABIN1 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 MAP2K1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 BCR disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 IGLL5 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 WWC1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 EPHA1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 CYP19A1 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 SST disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 PDLIM5 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 PEBP1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 EIF3C disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SAV1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SLC17A6 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 PTGDS disease C0027832 PosttranslationalModification 0.01 disgenet
Neurofibromatosis 2 LIF disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 MN1 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 ELF4 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 SRC disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 ERBB2 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 HGS disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 MSC disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 PLAT disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 FASN disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 GOPC disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 MEFV disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 COX2 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 PTPRJ disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 IL17RA disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 AREG disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 STAT3 disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 HTC2 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 MTOR disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 CCN1 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 PIK3CD disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 AJUBA disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 EGFR disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 CCN2 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 TIMP3 disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 FBLIM1 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 BRCA1 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 EPO disease C0027832 AlteredExpression 0.01 disgenet
Neurofibromatosis 2 LATS2 disease C0027832 GeneticVariation 0.01 disgenet
Neurofibromatosis 2 AMOT disease C0027832 Biomarker 0.01 disgenet
Neurofibromatosis 2 PIK3CG disease C0027832 Biomarker 0.01 disgenet
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