Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, Wolfram WFS1 disease C0043207 Biomarker 0.9 orphanet , disgenet
Syndrome, Wolfram WFS1 disease C0043207 GeneticVariation 0.9 orphanet , disgenet
Syndrome, Wolfram WFS1 disease C0043207 GermlineCausalMutation 0.9 orphanet , disgenet
Syndrome, Wolfram WFS1 disease C0043207 AlteredExpression 0.9 orphanet , disgenet
Syndrome, Wolfram CISD2 disease C0043207 Biomarker 0.6 orphanet , disgenet
Syndrome, Wolfram CISD2 disease C0043207 GeneticVariation 0.6 orphanet , disgenet
Syndrome, Wolfram CISD2 disease C0043207 GermlineCausalMutation 0.6 orphanet , disgenet
Syndrome, Wolfram GLP1R disease C0043207 Biomarker 0.02 disgenet
Syndrome, Wolfram NSD2 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram TH disease C0043207 GeneticVariation 0.01 disgenet
Syndrome, Wolfram IL4R disease C0043207 GeneticVariation 0.01 disgenet
Syndrome, Wolfram NCS1 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram POU4F3 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram BPIFA2 disease C0043207 AlteredExpression 0.01 disgenet
Syndrome, Wolfram TXNIP disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram MSMB disease C0043207 AlteredExpression 0.01 disgenet
Syndrome, Wolfram RIDA disease C0043207 AlteredExpression 0.01 disgenet
Syndrome, Wolfram HTC2 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram COMT disease C0043207 GeneticVariation 0.01 disgenet
Syndrome, Wolfram EVC disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram PSPH disease C0043207 AlteredExpression 0.01 disgenet
Syndrome, Wolfram STXBP3 disease C0043207 AlteredExpression 0.01 disgenet
Syndrome, Wolfram SYVN1 disease C0043207 AlteredExpression 0.01 disgenet
Syndrome, Wolfram GCG disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram NHS disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram DIAPH1 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram CRMP1 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram ATP2A2 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram CAPN2 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram ERN1 disease C0043207 Biomarker 0.01 disgenet
Syndrome, Wolfram PSPN disease C0043207 AlteredExpression 0.01 disgenet
Syndrome, Wolfram PAX3 disease C0043207 GeneticVariation 0.01 disgenet
Syndrome, Wolfram REG1A disease C0043207 AlteredExpression 0.01 disgenet
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