Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Atrophies IL1RN phenotype C0333641 Therapeutic 0.3 disgenet
Atrophies SLC1A1 phenotype C0333641 Biomarker 0.3 disgenet
Atrophies AHR phenotype C0333641 Biomarker 0.3 disgenet
Atrophies TRIM63 phenotype C0333641 Biomarker 0.3 disgenet
Atrophies CYP1A2 phenotype C0333641 Biomarker 0.3 disgenet
Atrophies CLU phenotype C0333641 Biomarker 0.3 disgenet
Atrophies CLN6 phenotype C0333641 Biomarker 0.3 disgenet
Atrophies STAT3 phenotype C0333641 Biomarker 0.3 disgenet
Atrophies MAPK3 phenotype C0333641 Biomarker 0.3 disgenet
Atrophies RPS6KB1 phenotype C0333641 Biomarker 0.3 disgenet
Atrophies SMN2 phenotype C0333641 CausalMutation 0.1 disgenet
Atrophies SMN1 phenotype C0333641 CausalMutation 0.1 disgenet
Atrophies FAS phenotype C0333641 Biomarker 0.02 disgenet
Atrophies CFH phenotype C0333641 GeneticVariation 0.02 disgenet
Atrophies FASLG phenotype C0333641 Biomarker 0.02 disgenet
Atrophies FAS phenotype C0333641 GeneticVariation 0.02 disgenet
Atrophies CFH phenotype C0333641 Biomarker 0.02 disgenet
Atrophies SETX phenotype C0333641 GeneticVariation 0.02 disgenet
Atrophies MIF phenotype C0333641 GeneticVariation 0.02 disgenet
Atrophies FASLG phenotype C0333641 GeneticVariation 0.02 disgenet
Atrophies GRN phenotype C0333641 GeneticVariation 0.02 disgenet
Atrophies HTRA1 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies AKT1 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies SHH phenotype C0333641 AlteredExpression 0.01 disgenet
Atrophies S100B phenotype C0333641 Biomarker 0.01 disgenet
Atrophies AQP4 phenotype C0333641 AlteredExpression 0.01 disgenet
Atrophies VIM phenotype C0333641 Biomarker 0.01 disgenet
Atrophies MTOR phenotype C0333641 Biomarker 0.01 disgenet
Atrophies MAPT phenotype C0333641 Biomarker 0.01 disgenet
Atrophies MFN2 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies MTHFR phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies PLA2G6 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies CACNA1A phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies TGFB1 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies BCL2 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies GSTP1 phenotype C0333641 PosttranslationalModification 0.01 disgenet
Atrophies SOD1 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies SYT14 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies ATXN3 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies MPO phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies DAPK1 phenotype C0333641 PosttranslationalModification 0.01 disgenet
Atrophies IL2 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies TLR4 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies ARMS2 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies TEAD1 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies TGM2 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies MME phenotype C0333641 AlteredExpression 0.01 disgenet
Atrophies LMNA phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies FOXO1 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies APOE phenotype C0333641 Biomarker 0.01 disgenet
Atrophies ATXN1 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies ATN1 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies PTPN11 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies IFNG phenotype C0333641 AlteredExpression 0.01 disgenet
Atrophies GSK3B phenotype C0333641 Biomarker 0.01 disgenet
Atrophies PTGS2 phenotype C0333641 AlteredExpression 0.01 disgenet
Atrophies COL2A1 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies LRRK2 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies MIR27A phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies SLC9A1 phenotype C0333641 Biomarker 0.01 disgenet
Atrophies TLR3 phenotype C0333641 GeneticVariation 0.01 disgenet
Atrophies CRB1 NA C0333641 NA NA orphanet
Atrophies ADAMTS18 NA C0333641 NA NA orphanet
Atrophies UFM1 NA C0333641 NA NA orphanet
Atrophies VPS53 NA C0333641 NA NA orphanet
Atrophies TMPRSS4 NA C0333641 NA NA orphanet
Atrophies TBCD NA C0333641 NA NA orphanet
Atrophies QARS1 NA C0333641 NA NA orphanet
Atrophies TUBB4A NA C0333641 NA NA orphanet
Atrophies TRAPPC12 NA C0333641 NA NA orphanet
Atrophies SLC19A3 NA C0333641 NA NA orphanet
Atrophies KY NA C0333641 NA NA orphanet
Atrophies POLR3A NA C0333641 NA NA orphanet
Atrophies SEPSECS NA C0333641 NA NA orphanet
Atrophies GPAA1 NA C0333641 NA NA orphanet
Atrophies ASNS NA C0333641 NA NA orphanet
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