Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Diastrophic dysplasia SLC26A2 disease C0220726 CausalMutation 0.9 orphanet , disgenet
Diastrophic dysplasia SLC26A2 disease C0220726 AlteredExpression 0.9 orphanet , disgenet
Diastrophic dysplasia SLC26A2 disease C0220726 Biomarker 0.9 orphanet , disgenet
Diastrophic dysplasia SLC26A2 disease C0220726 GeneticVariation 0.9 orphanet , disgenet
Diastrophic dysplasia TRAPPC3 disease C0220726 GeneticVariation 0.1 disgenet
Diastrophic dysplasia BBS5 disease C0220726 GeneticVariation 0.1 disgenet
Diastrophic dysplasia BBS9 disease C0220726 CausalMutation 0.1 disgenet
Diastrophic dysplasia DYNC2H1 disease C0220726 GeneticVariation 0.1 disgenet
Diastrophic dysplasia ARL13B disease C0220726 GeneticVariation 0.1 disgenet
Diastrophic dysplasia LRRCC1 disease C0220726 GeneticVariation 0.1 disgenet
Diastrophic dysplasia TMEM67 disease C0220726 GeneticVariation 0.1 disgenet
Diastrophic dysplasia KIAA0586 disease C0220726 CausalMutation 0.1 disgenet
Diastrophic dysplasia TMEM231 disease C0220726 CausalMutation 0.1 disgenet
Diastrophic dysplasia BBS2 disease C0220726 GeneticVariation 0.1 disgenet
Diastrophic dysplasia CEP290 disease C0220726 CausalMutation 0.1 disgenet
Diastrophic dysplasia WDR19 disease C0220726 GeneticVariation 0.1 disgenet
Diastrophic dysplasia ACE disease C0220726 GeneticVariation 0.08 disgenet
Diastrophic dysplasia ACE disease C0220726 Biomarker 0.08 disgenet
Diastrophic dysplasia DTD1 disease C0220726 GeneticVariation 0.03 disgenet
Diastrophic dysplasia NQO1 disease C0220726 GeneticVariation 0.03 disgenet
Diastrophic dysplasia NQO1 disease C0220726 Biomarker 0.03 disgenet
Diastrophic dysplasia COMP disease C0220726 Biomarker 0.03 disgenet
Diastrophic dysplasia DTD1 disease C0220726 Biomarker 0.03 disgenet
Diastrophic dysplasia COMP disease C0220726 GeneticVariation 0.03 disgenet
Diastrophic dysplasia SLC26A3 disease C0220726 AlteredExpression 0.02 disgenet
Diastrophic dysplasia COL2A1 disease C0220726 Biomarker 0.02 disgenet
Diastrophic dysplasia COL2A1 disease C0220726 GeneticVariation 0.02 disgenet
Diastrophic dysplasia SLC26A3 disease C0220726 GeneticVariation 0.02 disgenet
Diastrophic dysplasia IGFALS disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia CNR1 disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia FGFR3 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia PTEN disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia IL6 disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia PTH disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia SLC26A7 disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia SHBG disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia COL9A1 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia SAT1 disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia APOE disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia CRY1 disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia CCHCR1 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia SLC26A4 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia IL2 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia CLOCK disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia OTP disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia SLC26A5 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia PAPSS2 disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia THOC5 disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia GSTK1 disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia CHST3 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia SELENBP1 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia SPARC disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia SLC38A1 disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia CSF1R disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia SCN8A disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia HPGDS disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia SLCO6A1 disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia NR3C1 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia SOD1 disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia PER3 disease C0220726 AlteredExpression 0.01 disgenet
Diastrophic dysplasia SLC26A1 disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia SLC26A6 disease C0220726 GeneticVariation 0.01 disgenet
Diastrophic dysplasia COL9A2 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia COL9A3 disease C0220726 Biomarker 0.01 disgenet
Diastrophic dysplasia FN1 disease C0220726 Biomarker 0.01 disgenet
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