Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spondylocarpotarsal synostosis FLNB disease C1848934 Biomarker 0.87 orphanet , disgenet
Spondylocarpotarsal synostosis FLNB disease C1848934 CausalMutation 0.87 orphanet , disgenet
Spondylocarpotarsal synostosis FLNB disease C1848934 GeneticVariation 0.87 orphanet , disgenet
Spondylocarpotarsal synostosis MYH3 disease C1848934 GermlineCausalMutation 0.46 orphanet , disgenet
Spondylocarpotarsal synostosis MYH3 disease C1848934 GeneticVariation 0.46 orphanet , disgenet
Spondylocarpotarsal synostosis MYH3 disease C1848934 CausalMutation 0.46 orphanet , disgenet
Spondylocarpotarsal synostosis CTNNB1 disease C1848934 Biomarker 0.03 disgenet
Spondylocarpotarsal synostosis CTNNB1 disease C1848934 GeneticVariation 0.03 disgenet
Spondylocarpotarsal synostosis SCT disease C1848934 Biomarker 0.03 disgenet
Spondylocarpotarsal synostosis IL10 disease C1848934 GeneticVariation 0.02 disgenet
Spondylocarpotarsal synostosis IL10 disease C1848934 Biomarker 0.02 disgenet
Spondylocarpotarsal synostosis ACTB disease C1848934 Biomarker 0.02 disgenet
Spondylocarpotarsal synostosis INSRR disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis ADI1 disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis APP disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis G6PD disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis SERBP1 disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis TPM2 disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis ICAM1 disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis RFLNA disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis NTF3 disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis TMEM175 disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis SERPINE1 disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis VCAM1 disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis IL6 disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis CXCL8 disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis HBG2 disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis CCND1 disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis MAP2K1 disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis CAT disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis ZNF664-RFLNA disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis PRKAR1A disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis EXOC2 disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis CD59 disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis AFP disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis TNNI2 disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis AIF1 disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis HBB disease C1848934 GeneticVariation 0.01 disgenet
Spondylocarpotarsal synostosis SPINK1 disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis CS disease C1848934 AlteredExpression 0.01 disgenet
Spondylocarpotarsal synostosis TNF disease C1848934 Biomarker 0.01 disgenet
Spondylocarpotarsal synostosis NIPSNAP3B disease C1848934 Biomarker 0.01 disgenet
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