Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Klinefelter Syndrome AR disease C0022735 AlteredExpression 0.1 disgenet
Klinefelter Syndrome NR0B1 disease C0022735 GeneticVariation 0.1 disgenet
Klinefelter Syndrome NR0B1 disease C0022735 Biomarker 0.1 disgenet
Klinefelter Syndrome BRD2 disease C0022735 GeneticVariation 0.1 disgenet
Klinefelter Syndrome BRD2 disease C0022735 AlteredExpression 0.1 disgenet
Klinefelter Syndrome KISS1R disease C0022735 GeneticVariation 0.1 orphanet , disgenet
Klinefelter Syndrome BRD2 disease C0022735 Biomarker 0.1 disgenet
Klinefelter Syndrome GNRHR disease C0022735 Biomarker 0.1 orphanet , disgenet
Klinefelter Syndrome FGFR1 disease C0022735 Biomarker 0.1 orphanet , disgenet
Klinefelter Syndrome KISS1R disease C0022735 Biomarker 0.1 orphanet , disgenet
Klinefelter Syndrome FGFR1 disease C0022735 GeneticVariation 0.1 orphanet , disgenet
Klinefelter Syndrome GNRHR disease C0022735 GeneticVariation 0.1 orphanet , disgenet
Klinefelter Syndrome AR disease C0022735 Biomarker 0.1 disgenet
Klinefelter Syndrome GNRHR disease C0022735 AlteredExpression 0.1 orphanet , disgenet
Klinefelter Syndrome AR disease C0022735 GeneticVariation 0.1 disgenet
Klinefelter Syndrome SOX2 disease C0022735 GeneticVariation 0.07 disgenet
Klinefelter Syndrome ANOS1 disease C0022735 GeneticVariation 0.07 disgenet
Klinefelter Syndrome ANOS1 disease C0022735 Biomarker 0.07 disgenet
Klinefelter Syndrome POLR3A disease C0022735 Biomarker 0.06 orphanet , disgenet
Klinefelter Syndrome POLR3A disease C0022735 GeneticVariation 0.06 orphanet , disgenet
Klinefelter Syndrome POLR3A disease C0022735 AlteredExpression 0.06 orphanet , disgenet
Klinefelter Syndrome PROP1 disease C0022735 GeneticVariation 0.06 disgenet
Klinefelter Syndrome LEP disease C0022735 GeneticVariation 0.05 disgenet
Klinefelter Syndrome LEP disease C0022735 AlteredExpression 0.05 disgenet
Klinefelter Syndrome CHD7 disease C0022735 GeneticVariation 0.05 orphanet , disgenet
Klinefelter Syndrome LEP disease C0022735 Biomarker 0.05 disgenet
Klinefelter Syndrome CHD7 disease C0022735 Biomarker 0.05 orphanet , disgenet
Klinefelter Syndrome FGF8 disease C0022735 Biomarker 0.05 orphanet , disgenet
Klinefelter Syndrome FGF8 disease C0022735 GeneticVariation 0.05 orphanet , disgenet
Klinefelter Syndrome CHD7 disease C0022735 AlteredExpression 0.05 orphanet , disgenet
Klinefelter Syndrome FGF8 disease C0022735 AlteredExpression 0.05 orphanet , disgenet
Klinefelter Syndrome POLR3B disease C0022735 GeneticVariation 0.04 orphanet , disgenet
Klinefelter Syndrome GNRH1 disease C0022735 Biomarker 0.04 orphanet , disgenet
Klinefelter Syndrome GNRH1 disease C0022735 GeneticVariation 0.04 orphanet , disgenet
Klinefelter Syndrome PROK2 disease C0022735 Biomarker 0.04 orphanet , disgenet
Klinefelter Syndrome PROKR2 disease C0022735 GeneticVariation 0.04 orphanet , disgenet
Klinefelter Syndrome PROK2 disease C0022735 GeneticVariation 0.04 orphanet , disgenet
Klinefelter Syndrome NR5A1 disease C0022735 AlteredExpression 0.03 disgenet
Klinefelter Syndrome GH1 disease C0022735 Biomarker 0.03 disgenet
Klinefelter Syndrome AMH disease C0022735 Biomarker 0.03 disgenet
Klinefelter Syndrome AZF1 disease C0022735 Biomarker 0.03 disgenet
Klinefelter Syndrome NR5A1 disease C0022735 Biomarker 0.03 disgenet
Klinefelter Syndrome TACR3 disease C0022735 Biomarker 0.03 orphanet , disgenet
Klinefelter Syndrome KISS1 disease C0022735 GeneticVariation 0.03 orphanet , disgenet
Klinefelter Syndrome TACR3 disease C0022735 GeneticVariation 0.03 orphanet , disgenet
Klinefelter Syndrome PRL disease C0022735 AlteredExpression 0.03 disgenet
Klinefelter Syndrome LEPR disease C0022735 GeneticVariation 0.03 disgenet
Klinefelter Syndrome NR5A1 disease C0022735 GeneticVariation 0.03 disgenet
Klinefelter Syndrome AMH disease C0022735 AlteredExpression 0.03 disgenet
Klinefelter Syndrome PRL disease C0022735 Biomarker 0.03 disgenet
Klinefelter Syndrome INSL3 disease C0022735 GeneticVariation 0.03 disgenet
Klinefelter Syndrome INSL3 disease C0022735 AlteredExpression 0.03 disgenet
Klinefelter Syndrome POMC disease C0022735 Biomarker 0.03 disgenet
Klinefelter Syndrome MECP2 disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome STAR disease C0022735 Biomarker 0.02 disgenet
Klinefelter Syndrome SRY disease C0022735 Biomarker 0.02 disgenet
Klinefelter Syndrome PNPLA6 disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome CYP19A1 disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome SHBG disease C0022735 Biomarker 0.02 disgenet
Klinefelter Syndrome CYP19A1 disease C0022735 AlteredExpression 0.02 disgenet
Klinefelter Syndrome HT disease C0022735 Biomarker 0.02 disgenet
Klinefelter Syndrome ESRRB disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome KLK3 disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome MPZ disease C0022735 Biomarker 0.02 disgenet
Klinefelter Syndrome MPZ disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome KLK3 disease C0022735 AlteredExpression 0.02 disgenet
Klinefelter Syndrome CFTR disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome DAZ1 disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome SERPINE1 disease C0022735 AlteredExpression 0.02 disgenet
Klinefelter Syndrome XIST disease C0022735 AlteredExpression 0.02 disgenet
Klinefelter Syndrome SHBG disease C0022735 AlteredExpression 0.02 disgenet
Klinefelter Syndrome ESRRB disease C0022735 Biomarker 0.02 disgenet
Klinefelter Syndrome SERPINE1 disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome SRY disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome PMP22 disease C0022735 Biomarker 0.02 disgenet
Klinefelter Syndrome PMP22 disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome SHOX disease C0022735 Biomarker 0.02 disgenet
Klinefelter Syndrome TAC3 disease C0022735 Biomarker 0.02 orphanet , disgenet
Klinefelter Syndrome SHOX disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome LHB disease C0022735 AlteredExpression 0.02 disgenet
Klinefelter Syndrome LHB disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome SERPINA4 disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome TLR7 disease C0022735 AlteredExpression 0.02 disgenet
Klinefelter Syndrome MTHFR disease C0022735 GeneticVariation 0.02 disgenet
Klinefelter Syndrome SLC52A2 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome WDHD1 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome MUL1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome CD40 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome IGF1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome OTC disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome JAK2 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome BBS1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome FSHB disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome LDOC1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome F2 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome H3P40 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome IGSF10 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome KCNJ11 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome INHBA disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome AURKC disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome NDN disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome EBP disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome ESR2 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome AFP disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome BECN1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome USH2A disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome TYRO3 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome MAOA disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome GPER1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome SOST disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome IL1RAPL1 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome S100A4 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome AZGP1 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome CD274 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome LINC01569 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome ND6 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome INHA disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome RBMY1HP disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome G3BP1 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome CTLA4 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome F2R disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome JTB disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome GJA1 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome VAMP7 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome AXL disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome FGF2 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome SEMA3A disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome SST disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome TRH disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome LHCGR disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome CP disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome FGF17 disease C0022735 GeneticVariation 0.01 orphanet , disgenet
Klinefelter Syndrome HENMT1 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome F5 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome KDM5C disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome BRCA2 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome WDR11 disease C0022735 Biomarker 0.01 orphanet , disgenet
Klinefelter Syndrome SERPINA1 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome NSMF disease C0022735 GeneticVariation 0.01 orphanet , disgenet
Klinefelter Syndrome STS disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome EPO disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome MC4R disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome VTN disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome ASCC1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome GGN disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome IL4 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome NRP1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome FGF3 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome RABGAP1L disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome DLK1 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome CCDC141 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome PSAT1 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome FGF9 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome PROS1 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome NPEPPS disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome MSTN disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome FMR1 disease C0022735 PosttranslationalModification 0.01 disgenet
Klinefelter Syndrome SOX9 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome IQCB1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome PLAG1 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome TUBB3 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome SOAT1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome PRKN disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome GAS5 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome PDE5A disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome QPCT disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome SLC6A8 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome CBLL2 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome TNFSF11 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome RAD9A disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome NR1I2 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome UCHL1 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome NEUROG3 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome ARHGEF7 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome NRP2 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome KRT18 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome PCDH19 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome GK disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome IKBKG disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome RNF216 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome KDM6A disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome NFKB1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome PWAR1 disease C0022735 GeneticVariation 0.01 disgenet
Klinefelter Syndrome FGF10 disease C0022735 AlteredExpression 0.01 disgenet
Klinefelter Syndrome AOC1 disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome PTHLH disease C0022735 Biomarker 0.01 disgenet
Klinefelter Syndrome DUSP6 NA C0022735 NA NA orphanet
Klinefelter Syndrome SPRY4 NA C0022735 NA NA orphanet
Klinefelter Syndrome HS6ST1 NA C0022735 NA NA orphanet
Klinefelter Syndrome SMCHD1 NA C0022735 NA NA orphanet
Klinefelter Syndrome POLR1C NA C0022735 NA NA orphanet
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