Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Fragile X Syndrome FMR1 disease C0016667 AlteredExpression 1 orphanet , disgenet
Fragile X Syndrome FMR1 disease C0016667 CausalMutation 1 orphanet , disgenet
Fragile X Syndrome FMR1 disease C0016667 PosttranslationalModification 1 orphanet , disgenet
Fragile X Syndrome FMR1 disease C0016667 Biomarker 1 orphanet , disgenet
Fragile X Syndrome FMR1 disease C0016667 GeneticVariation 1 orphanet , disgenet
Fragile X Syndrome APP disease C0016667 Therapeutic 0.37 disgenet
Fragile X Syndrome APP disease C0016667 AlteredExpression 0.37 disgenet
Fragile X Syndrome APP disease C0016667 Biomarker 0.37 disgenet
Fragile X Syndrome AFF2 disease C0016667 Biomarker 0.34 disgenet
Fragile X Syndrome AFF2 disease C0016667 GeneticVariation 0.34 disgenet
Fragile X Syndrome NUFIP2 disease C0016667 PosttranslationalModification 0.1 disgenet
Fragile X Syndrome NUFIP2 disease C0016667 Biomarker 0.1 disgenet
Fragile X Syndrome NUFIP2 disease C0016667 AlteredExpression 0.1 disgenet
Fragile X Syndrome NUFIP2 disease C0016667 GeneticVariation 0.1 disgenet
Fragile X Syndrome FMR1-IT1 disease C0016667 GeneticVariation 0.1 disgenet
Fragile X Syndrome FMR1-IT1 disease C0016667 PosttranslationalModification 0.1 disgenet
Fragile X Syndrome FMR1-IT1 disease C0016667 Biomarker 0.1 disgenet
Fragile X Syndrome FMR1-IT1 disease C0016667 AlteredExpression 0.1 disgenet
Fragile X Syndrome FRAXA disease C0016667 AlteredExpression 0.1 disgenet
Fragile X Syndrome FRAXA disease C0016667 PosttranslationalModification 0.1 disgenet
Fragile X Syndrome GRM5 disease C0016667 GeneticVariation 0.1 disgenet
Fragile X Syndrome FRAXA disease C0016667 Biomarker 0.1 disgenet
Fragile X Syndrome GRM5 disease C0016667 Biomarker 0.1 disgenet
Fragile X Syndrome GRM5 disease C0016667 AlteredExpression 0.1 disgenet
Fragile X Syndrome FRAXA disease C0016667 GeneticVariation 0.1 disgenet
Fragile X Syndrome FRAXE disease C0016667 Biomarker 0.09 disgenet
Fragile X Syndrome FRAXE disease C0016667 GeneticVariation 0.09 disgenet
Fragile X Syndrome MMP9 disease C0016667 AlteredExpression 0.08 disgenet
Fragile X Syndrome ACTB disease C0016667 Biomarker 0.08 disgenet
Fragile X Syndrome ACTB disease C0016667 GeneticVariation 0.08 disgenet
Fragile X Syndrome MMP9 disease C0016667 Biomarker 0.08 disgenet
Fragile X Syndrome ARSD disease C0016667 Biomarker 0.06 disgenet
Fragile X Syndrome PVALB disease C0016667 Biomarker 0.05 disgenet
Fragile X Syndrome FXN disease C0016667 GeneticVariation 0.05 disgenet
Fragile X Syndrome BDNF disease C0016667 GeneticVariation 0.05 disgenet
Fragile X Syndrome FXN disease C0016667 Biomarker 0.05 disgenet
Fragile X Syndrome BDNF disease C0016667 Biomarker 0.05 disgenet
Fragile X Syndrome FXR1 disease C0016667 Biomarker 0.05 disgenet
Fragile X Syndrome FXR1 disease C0016667 GeneticVariation 0.05 disgenet
Fragile X Syndrome FXR2 disease C0016667 Biomarker 0.04 disgenet
Fragile X Syndrome FMR1-AS1 disease C0016667 GeneticVariation 0.04 disgenet
Fragile X Syndrome G6PD disease C0016667 Biomarker 0.04 disgenet
Fragile X Syndrome FMR1-AS1 disease C0016667 AlteredExpression 0.04 disgenet
Fragile X Syndrome G6PD disease C0016667 AlteredExpression 0.04 disgenet
Fragile X Syndrome G6PD disease C0016667 GeneticVariation 0.04 disgenet
Fragile X Syndrome MAK16 disease C0016667 GeneticVariation 0.03 disgenet
Fragile X Syndrome MAK16 disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome F9 disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome EIF4E disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome PIK3CA disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome RAC1 disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome PIK3CD disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome SRRM2 disease C0016667 GeneticVariation 0.03 disgenet
Fragile X Syndrome EIF4E disease C0016667 PosttranslationalModification 0.03 disgenet
Fragile X Syndrome CYFIP2 disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome PGD disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome CYFIP2 disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome APRT disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome PTBP1 disease C0016667 GeneticVariation 0.03 disgenet
Fragile X Syndrome PNO1 disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome PIK3CA disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome PIK3CD disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome RBMS3 disease C0016667 GeneticVariation 0.03 disgenet
Fragile X Syndrome EIF4E disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome PNO1 disease C0016667 GeneticVariation 0.03 disgenet
Fragile X Syndrome PTBP1 disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome PIK3CG disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome LINC01672 disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome RBMS3 disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome SRRM2 disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome PIK3CG disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome MFAP1 disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome PIK3CB disease C0016667 Biomarker 0.03 disgenet
Fragile X Syndrome PIK3CB disease C0016667 AlteredExpression 0.03 disgenet
Fragile X Syndrome GRM1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome MECP2 disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome MLH1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome GRM1 disease C0016667 AlteredExpression 0.02 disgenet
Fragile X Syndrome GRIK1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome CD44 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome VEGFA disease C0016667 AlteredExpression 0.02 disgenet
Fragile X Syndrome RIC8A disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome MLH1 disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome RABEP2 disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome IDS disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome RIC8A disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome VEGFA disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome NR1H4 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome MSH2 disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome SHANK1 disease C0016667 AlteredExpression 0.02 disgenet
Fragile X Syndrome MSH2 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome BMPR2 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome FOSL1 disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome HSPG2 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome KIAA1109 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome PCSK9 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome IL6 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome PDE4D disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome ST14 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome RPS6KB1 disease C0016667 PosttranslationalModification 0.02 disgenet
Fragile X Syndrome PCSK9 disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome LIMK1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome CYFIP1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome RPS6KB1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome CPEB1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome NCS1 disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome SOD1 disease C0016667 AlteredExpression 0.02 disgenet
Fragile X Syndrome NCS1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome DLG3 disease C0016667 GeneticVariation 0.02 disgenet
Fragile X Syndrome IGF2 disease C0016667 AlteredExpression 0.02 disgenet
Fragile X Syndrome DLG3 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome IGF2 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome SDC2 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome SOD1 disease C0016667 Biomarker 0.02 disgenet
Fragile X Syndrome MED12 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome MBS1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NUP98 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome ELAVL2 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome RANGAP1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PKP4 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PTEN disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome YTHDF2 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome WASF1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome CHD7 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome HTT disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome AVP disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome INPP5K disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome CAPRIN1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SMS disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome ABCB6 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome ANG disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PDE2A disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome C20orf181 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome HTR2A disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome GSN disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SLC6A4 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome SHBG disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome IAPP disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SLC6A8 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome NHS disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SLC36A1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome GSK3B disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome KCNQ2 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome REST disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome RCAN1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SCN2A disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome ATXN3 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome MIR510 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome MAPK3 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome RGS4 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome APOA1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome WNT7A disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome SNRPN disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome SIRT1 disease C0016667 PosttranslationalModification 0.01 disgenet
Fragile X Syndrome DSTN disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome BCR disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome AKT1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NTRK2 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome ADARB1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome STATH disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome TWNK disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome ADCY1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome UBE3A disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome ADCYAP1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome IGFALS disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NRF1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome CLSTN1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome GABPA disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome HDAC6 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome TWIST1 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome DSCAM disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NOS1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome NF1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NFE2L2 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PTPN5 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SKI disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PLCG1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome TARDBP disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome ALPP disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome MAOA disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome ANXA1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome IGF1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome ADAM10 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome VIP disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PAK1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome GRIN2A disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome MDM2 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome KCNT1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome MAS1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome ICAM5 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NRG1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome CFP disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome HTC2 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome CHMP4A disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome ALPI disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SLC1A2 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome BRCA2 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome SRY disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome CAT disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome CRHR1 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome BRD4 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SYN1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome PPP1R12A disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome RSS disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome TOP3B disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PPP2R5E disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NNAT disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome FBN1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PAX3 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome SHC2 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome DLG4 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome STXBP1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NRXN1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome NBEA disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome MAGT1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome CTCF disease C0016667 PosttranslationalModification 0.01 disgenet
Fragile X Syndrome ATXN8OS disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome SLC12A2 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome LMNA disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome GRN disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome MED18 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome MIR219A1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome DICER1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome GABRD disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome PCA3 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome SPARC disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome USF1 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome NFE2L1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome DLD disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome RAI1 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome KCNH1 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome PDLIM5 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome TDRD3 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome MBD5 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome ST8SIA4 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome USF2 disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome IRF6 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome MEF2A disease C0016667 AlteredExpression 0.01 disgenet
Fragile X Syndrome GRIA2 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome C9orf72 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome CD47 disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome DGKK disease C0016667 Biomarker 0.01 disgenet
Fragile X Syndrome ARHGEF9 disease C0016667 GeneticVariation 0.01 disgenet
Fragile X Syndrome LGALS4 disease C0016667 GeneticVariation 0.01 disgenet
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