Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hereditary Neoplastic Syndrome RET group C0027672 Biomarker 0.2 disgenet
Hereditary Neoplastic Syndrome RET group C0027672 CausalMutation 0.2 disgenet
Hereditary Neoplastic Syndrome RET group C0027672 GeneticVariation 0.2 disgenet
Hereditary Neoplastic Syndrome RET group C0027672 AlteredExpression 0.2 disgenet
Hereditary Neoplastic Syndrome BAP1 group C0027672 CausalMutation 0.18 disgenet
Hereditary Neoplastic Syndrome BAP1 group C0027672 Biomarker 0.18 disgenet
Hereditary Neoplastic Syndrome BAP1 group C0027672 GeneticVariation 0.18 disgenet
Hereditary Neoplastic Syndrome VHL group C0027672 CausalMutation 0.18 disgenet
Hereditary Neoplastic Syndrome VHL group C0027672 GeneticVariation 0.18 disgenet
Hereditary Neoplastic Syndrome VHL group C0027672 Biomarker 0.18 disgenet
Hereditary Neoplastic Syndrome BAP1 group C0027672 AlteredExpression 0.18 disgenet
Hereditary Neoplastic Syndrome TP53 group C0027672 GeneticVariation 0.17 disgenet
Hereditary Neoplastic Syndrome TP53 group C0027672 CausalMutation 0.17 disgenet
Hereditary Neoplastic Syndrome TP53 group C0027672 Biomarker 0.17 disgenet
Hereditary Neoplastic Syndrome PTEN group C0027672 CausalMutation 0.16 disgenet
Hereditary Neoplastic Syndrome PTEN group C0027672 GeneticVariation 0.16 disgenet
Hereditary Neoplastic Syndrome PTEN group C0027672 Biomarker 0.16 disgenet
Hereditary Neoplastic Syndrome BRCA1 group C0027672 Biomarker 0.15 orphanet , disgenet
Hereditary Neoplastic Syndrome MLH1 group C0027672 GeneticVariation 0.15 disgenet
Hereditary Neoplastic Syndrome MLH1 group C0027672 CausalMutation 0.15 disgenet
Hereditary Neoplastic Syndrome MLH1 group C0027672 Biomarker 0.15 disgenet
Hereditary Neoplastic Syndrome FH group C0027672 GeneticVariation 0.15 disgenet
Hereditary Neoplastic Syndrome FH group C0027672 CausalMutation 0.15 disgenet
Hereditary Neoplastic Syndrome BRCA1 group C0027672 CausalMutation 0.15 orphanet , disgenet
Hereditary Neoplastic Syndrome FH group C0027672 AlteredExpression 0.15 disgenet
Hereditary Neoplastic Syndrome BRCA1 group C0027672 GeneticVariation 0.15 orphanet , disgenet
Hereditary Neoplastic Syndrome CDH1 group C0027672 GeneticVariation 0.13 disgenet
Hereditary Neoplastic Syndrome MSH2 group C0027672 Biomarker 0.13 disgenet
Hereditary Neoplastic Syndrome MSH2 group C0027672 GeneticVariation 0.13 disgenet
Hereditary Neoplastic Syndrome MSH2 group C0027672 CausalMutation 0.13 disgenet
Hereditary Neoplastic Syndrome BRCA2 group C0027672 Biomarker 0.13 orphanet , disgenet
Hereditary Neoplastic Syndrome CDH1 group C0027672 CausalMutation 0.13 disgenet
Hereditary Neoplastic Syndrome BRCA2 group C0027672 GeneticVariation 0.13 orphanet , disgenet
Hereditary Neoplastic Syndrome BRCA2 group C0027672 CausalMutation 0.13 orphanet , disgenet
Hereditary Neoplastic Syndrome STK11 group C0027672 GeneticVariation 0.12 disgenet
Hereditary Neoplastic Syndrome STK11 group C0027672 CausalMutation 0.12 disgenet
Hereditary Neoplastic Syndrome DICER1 group C0027672 GeneticVariation 0.12 orphanet , disgenet
Hereditary Neoplastic Syndrome DICER1 group C0027672 CausalMutation 0.12 orphanet , disgenet
Hereditary Neoplastic Syndrome SDHB group C0027672 GeneticVariation 0.11 disgenet
Hereditary Neoplastic Syndrome MSH6 group C0027672 CausalMutation 0.11 disgenet
Hereditary Neoplastic Syndrome CDKN2A group C0027672 GeneticVariation 0.11 disgenet
Hereditary Neoplastic Syndrome CDKN2A group C0027672 Biomarker 0.11 disgenet
Hereditary Neoplastic Syndrome PMS2 group C0027672 CausalMutation 0.11 disgenet
Hereditary Neoplastic Syndrome APC group C0027672 GeneticVariation 0.11 disgenet
Hereditary Neoplastic Syndrome APC group C0027672 CausalMutation 0.11 disgenet
Hereditary Neoplastic Syndrome SDHB group C0027672 CausalMutation 0.11 disgenet
Hereditary Neoplastic Syndrome APC group C0027672 SusceptibilityMutation 0.11 disgenet
Hereditary Neoplastic Syndrome MSH6 group C0027672 GeneticVariation 0.11 disgenet
Hereditary Neoplastic Syndrome CDKN2A group C0027672 CausalMutation 0.11 disgenet
Hereditary Neoplastic Syndrome TSC2 group C0027672 CausalMutation 0.11 disgenet
Hereditary Neoplastic Syndrome PMS2 group C0027672 GeneticVariation 0.11 disgenet
Hereditary Neoplastic Syndrome TSC2 group C0027672 GeneticVariation 0.11 disgenet
Hereditary Neoplastic Syndrome SDHAF2 group C0027672 GeneticVariation 0.11 disgenet
Hereditary Neoplastic Syndrome BMPR1A group C0027672 GeneticVariation 0.11 disgenet
Hereditary Neoplastic Syndrome BMPR1A group C0027672 CausalMutation 0.11 disgenet
Hereditary Neoplastic Syndrome SDHAF2 group C0027672 CausalMutation 0.11 disgenet
Hereditary Neoplastic Syndrome SMAD4 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome RAD50 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome MITF group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome RB1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome NTHL1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome TOE1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome TH2LCRR group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome C11orf65 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome RB1 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome NBN group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome SDHC group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome FANCC group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome SMAD4 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome RAD50 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome POLE group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome NBN group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome SDHC group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome SMARCE1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome SMARCA4 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome FANCC group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome RECQL group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome RECQL group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome SDHA group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome CDKN2B-AS1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome MRE11 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome CHEK2 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome C11orf65 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome SDHD group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome TH2LCRR group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome RAD51D group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome RAD51D group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome SMARCB1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome BLM group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome ABRAXAS1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome MRE11 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome ATM group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome RAD51B group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome MPRIP group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome SDHA group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome FLCN group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome ATM group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome NF1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome MAX group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome MPRIP group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome BARD1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome HFE group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome CHEK2 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome PTCH1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome BLM group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome SDHD group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome MAX group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome RAD51C group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome CTNNA1 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome MUTYH group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome FLCN group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome MITF group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome NF1 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome POLD1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome TMEM127 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome PALB2 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome XRCC2 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome FBXO11 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome CDK4 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome EXT2 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome BRIP1 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome BARD1 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome RAD51C group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome HOXB13 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome FBXO11 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome BRIP1 group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome MRPS18C group C0027672 CausalMutation 0.1 disgenet
Hereditary Neoplastic Syndrome PALB2 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome TMEM127 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome PTCH1 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome TOE1 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome MUTYH group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome XRCC2 group C0027672 GeneticVariation 0.1 disgenet
Hereditary Neoplastic Syndrome MRC1 group C0027672 Biomarker 0.08 disgenet
Hereditary Neoplastic Syndrome MRC1 group C0027672 GeneticVariation 0.08 disgenet
Hereditary Neoplastic Syndrome MEN1 group C0027672 Biomarker 0.05 disgenet
Hereditary Neoplastic Syndrome MEN1 group C0027672 GeneticVariation 0.05 disgenet
Hereditary Neoplastic Syndrome CDC73 group C0027672 GeneticVariation 0.02 disgenet
Hereditary Neoplastic Syndrome ST8 group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome CTNNB1 group C0027672 Biomarker 0.01 disgenet
Hereditary Neoplastic Syndrome PART1 group C0027672 Biomarker 0.01 disgenet
Hereditary Neoplastic Syndrome CYP19A1 group C0027672 AlteredExpression 0.01 disgenet
Hereditary Neoplastic Syndrome SARDH group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome RUNX1 group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome PLAU group C0027672 Biomarker 0.01 disgenet
Hereditary Neoplastic Syndrome PIK3CA group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome PIK3CD group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome BRAF group C0027672 Biomarker 0.01 disgenet
Hereditary Neoplastic Syndrome SORD group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome PKM group C0027672 Biomarker 0.01 disgenet
Hereditary Neoplastic Syndrome PIK3CG group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome PIK3CB group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome MSH3 group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome KRAS group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome SERPINE1 group C0027672 Biomarker 0.01 disgenet
Hereditary Neoplastic Syndrome SDS group C0027672 GeneticVariation 0.01 disgenet
Hereditary Neoplastic Syndrome ATP4A NA C0027672 NA NA orphanet
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