Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
X Linked Bulbo Spinal Atrophy AR disease C1839259 CausalMutation 0.7 orphanet , disgenet
X Linked Bulbo Spinal Atrophy AR disease C1839259 SusceptibilityMutation 0.7 orphanet , disgenet
X Linked Bulbo Spinal Atrophy AR disease C1839259 AlteredExpression 0.7 orphanet , disgenet
X Linked Bulbo Spinal Atrophy AR disease C1839259 GermlineCausalMutation 0.7 orphanet , disgenet
X Linked Bulbo Spinal Atrophy AR disease C1839259 Biomarker 0.7 orphanet , disgenet
X Linked Bulbo Spinal Atrophy AR disease C1839259 GeneticVariation 0.7 orphanet , disgenet
X Linked Bulbo Spinal Atrophy TNF disease C1839259 AlteredExpression 0.08 disgenet
X Linked Bulbo Spinal Atrophy TNF disease C1839259 GeneticVariation 0.08 disgenet
X Linked Bulbo Spinal Atrophy SOD1 disease C1839259 GeneticVariation 0.08 disgenet
X Linked Bulbo Spinal Atrophy TNF disease C1839259 Biomarker 0.08 disgenet
X Linked Bulbo Spinal Atrophy SOD1 disease C1839259 Biomarker 0.08 disgenet
X Linked Bulbo Spinal Atrophy ATXN1 disease C1839259 Biomarker 0.04 disgenet
X Linked Bulbo Spinal Atrophy IGFALS disease C1839259 GeneticVariation 0.04 disgenet
X Linked Bulbo Spinal Atrophy IGFALS disease C1839259 Biomarker 0.04 disgenet
X Linked Bulbo Spinal Atrophy IGF1 disease C1839259 Biomarker 0.03 disgenet
X Linked Bulbo Spinal Atrophy HTT disease C1839259 Biomarker 0.03 disgenet
X Linked Bulbo Spinal Atrophy HTT disease C1839259 GeneticVariation 0.03 disgenet
X Linked Bulbo Spinal Atrophy IGF1 disease C1839259 AlteredExpression 0.03 disgenet
X Linked Bulbo Spinal Atrophy HSP90AA1 disease C1839259 AlteredExpression 0.03 disgenet
X Linked Bulbo Spinal Atrophy HSP90AA1 disease C1839259 Biomarker 0.03 disgenet
X Linked Bulbo Spinal Atrophy PPARG disease C1839259 AlteredExpression 0.03 disgenet
X Linked Bulbo Spinal Atrophy PPARG disease C1839259 Biomarker 0.03 disgenet
X Linked Bulbo Spinal Atrophy FRAXE disease C1839259 GeneticVariation 0.02 disgenet
X Linked Bulbo Spinal Atrophy CASP3 disease C1839259 Biomarker 0.02 disgenet
X Linked Bulbo Spinal Atrophy HSPA4 disease C1839259 Biomarker 0.02 disgenet
X Linked Bulbo Spinal Atrophy HSPB8 disease C1839259 Biomarker 0.02 disgenet
X Linked Bulbo Spinal Atrophy HSPB8 disease C1839259 GeneticVariation 0.02 disgenet
X Linked Bulbo Spinal Atrophy MIR298 disease C1839259 AlteredExpression 0.02 disgenet
X Linked Bulbo Spinal Atrophy ATXN3 disease C1839259 Biomarker 0.02 disgenet
X Linked Bulbo Spinal Atrophy MIR298 disease C1839259 Biomarker 0.02 disgenet
X Linked Bulbo Spinal Atrophy CRP disease C1839259 AlteredExpression 0.02 disgenet
X Linked Bulbo Spinal Atrophy TNFRSF1A disease C1839259 Biomarker 0.02 disgenet
X Linked Bulbo Spinal Atrophy TNFRSF1A disease C1839259 GeneticVariation 0.02 disgenet
X Linked Bulbo Spinal Atrophy AKT1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy BAG3 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy MAPT disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy CELF2 disease C1839259 PosttranslationalModification 0.01 disgenet
X Linked Bulbo Spinal Atrophy PBK disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy PRNP disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy STOML1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy C9orf72 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy LINC01194 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy CD24 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy IRF1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy BECN1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy FAM135B disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy URI1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy CERS6 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy OTX2 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy KAT2A disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy FBN1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy GAPDH disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy DCTN4 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy SQSTM1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy CHCHD10 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy DNAJB2 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy NLRX1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy NFE2L2 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy RAN disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy STAT1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy LY6E disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy DNAJB1P1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy GRM2 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy SMAD1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy ABCA4 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy HAP1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy SEPTIN7 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy MZB1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy GH1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy GFRA1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy DNAJB1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy IL6 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy LDHA disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy HSF1 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy FXN disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy GPT disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy AD12 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy SPAG9 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy GABPA disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy LINC01672 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy GNA12 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy SEMA3B disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy DNAJA1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy KAT2B disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy SRY disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy SCN3A disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy DNMT1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy COX5B disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy HSPA5 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy GTF2H1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy TFEB disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy TBP disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy POT1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy MAPK1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy NEFH disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy RET disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy PSME3 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy ZKSCAN3 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy EPHB2 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy ATXN2 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy PRMT6 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy CREBBP disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy BPTF disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy MYO5B disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy NUP62 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy IL4 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy SEMA6A disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy TGFB1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy UCP2 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy ZEB1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy PMP22 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy MAP7 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy MYH8 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy MMP2 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy SOD2 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy HIF1A disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy JAG1 disease C1839259 PosttranslationalModification 0.01 disgenet
X Linked Bulbo Spinal Atrophy BCAR1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy HES5 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy ADCYAP1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy VDR disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy SERPINE1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy IGF1R disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy SMN1 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy GRIA2 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy WDR1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy ERBB2 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy DMPK disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy NRF1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy NEFL disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy TRIP10 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy SYTL1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy INSR disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy HSPH1 disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy GDNF disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy CEBPD disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy KHDRBS1 disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy FRAXA disease C1839259 Biomarker 0.01 disgenet
X Linked Bulbo Spinal Atrophy AQP1 disease C1839259 GeneticVariation 0.01 disgenet
X Linked Bulbo Spinal Atrophy VEGFA disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy SUCO disease C1839259 AlteredExpression 0.01 disgenet
X Linked Bulbo Spinal Atrophy SIX1 disease C1839259 Biomarker 0.01 disgenet
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