Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dubowitz syndrome NSUN2 disease C0175691 GermlineCausalMutation 0.31 orphanet , disgenet
Dubowitz syndrome LIG4 disease C0175691 GermlineCausalMutation 0.31 orphanet , disgenet
Dubowitz syndrome NSUN2 disease C0175691 Biomarker 0.31 orphanet , disgenet
Dubowitz syndrome LIG4 disease C0175691 GeneticVariation 0.31 orphanet , disgenet
Dubowitz syndrome CENPJ disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome LZTR1 disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome RIT1 disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome KRAS disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome ATR disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome CEP63 disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome RAF1 disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome SOS1 disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome PTPN11 disease C0175691 Biomarker 0.2 disgenet
Dubowitz syndrome PLXNA1 disease C0175691 GeneticVariation 0.01 disgenet
click here to return to the previous page