Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dysautonomia, Familial ELP1 disease C0013364 Biomarker 1 orphanet , disgenet
Dysautonomia, Familial ELP1 disease C0013364 AlteredExpression 1 orphanet , disgenet
Dysautonomia, Familial ELP1 disease C0013364 GeneticVariation 1 orphanet , disgenet
Dysautonomia, Familial ELP1 disease C0013364 CausalMutation 1 orphanet , disgenet
Dysautonomia, Familial SPTLC1 disease C0013364 Biomarker 0.3 disgenet
Dysautonomia, Familial SPTLC2 disease C0013364 Biomarker 0.3 disgenet
Dysautonomia, Familial GLA disease C0013364 AlteredExpression 0.02 disgenet
Dysautonomia, Familial TNFSF11 disease C0013364 Biomarker 0.02 disgenet
Dysautonomia, Familial NGF disease C0013364 Biomarker 0.02 disgenet
Dysautonomia, Familial TNFSF11 disease C0013364 AlteredExpression 0.02 disgenet
Dysautonomia, Familial TUBA1B disease C0013364 Biomarker 0.02 disgenet
Dysautonomia, Familial TUBA1B disease C0013364 AlteredExpression 0.02 disgenet
Dysautonomia, Familial MAOA disease C0013364 AlteredExpression 0.02 disgenet
Dysautonomia, Familial MAOA disease C0013364 Biomarker 0.02 disgenet
Dysautonomia, Familial SLC6A4 disease C0013364 AlteredExpression 0.02 disgenet
Dysautonomia, Familial SLC6A4 disease C0013364 GeneticVariation 0.02 disgenet
Dysautonomia, Familial GER disease C0013364 GeneticVariation 0.01 disgenet
Dysautonomia, Familial MSC disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial NTRK2 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial NOVA1 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial BCHE disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial ACTL7B disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial CEACAM1 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial TAL1 disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial RBM24 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial KRT7 disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial FKBP4 disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial HNRNPA1P10 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial VDR disease C0013364 GeneticVariation 0.01 disgenet
Dysautonomia, Familial DLK1 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial BGLAP disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial HMGCS2 disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial HCRT disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial ESR1 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial SOD3 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial ACTL7A disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial STMN2 disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial GCG disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial DBIL5P2 disease C0013364 GeneticVariation 0.01 disgenet
Dysautonomia, Familial CXCL12 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial ELP3 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial ICAM1 disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial NOS1 disease C0013364 GeneticVariation 0.01 disgenet
Dysautonomia, Familial TNF disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial HNRNPA1 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial PRRX1 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial ELP2 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial DST disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial LSM2 disease C0013364 GeneticVariation 0.01 disgenet
Dysautonomia, Familial TECPR2 disease C0013364 GeneticVariation 0.01 disgenet
Dysautonomia, Familial SERPINA1 disease C0013364 GeneticVariation 0.01 disgenet
Dysautonomia, Familial SCLY disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial APOE disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial CD36 disease C0013364 AlteredExpression 0.01 disgenet
Dysautonomia, Familial KDELR2 disease C0013364 GeneticVariation 0.01 disgenet
Dysautonomia, Familial ELP4 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial PROM1 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial CTNNAL1 disease C0013364 Biomarker 0.01 disgenet
Dysautonomia, Familial S100A12 disease C0013364 Biomarker 0.01 disgenet
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