Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dorfman Chanarin syndrome ABHD5 disease C0268238 GermlineCausalMutation 1 orphanet , disgenet
Dorfman Chanarin syndrome ABHD5 disease C0268238 GeneticVariation 1 orphanet , disgenet
Dorfman Chanarin syndrome ABHD5 disease C0268238 CausalMutation 1 orphanet , disgenet
Dorfman Chanarin syndrome ABHD5 disease C0268238 AlteredExpression 1 orphanet , disgenet
Dorfman Chanarin syndrome ABHD5 disease C0268238 Biomarker 1 orphanet , disgenet
Dorfman Chanarin syndrome ANO10 disease C0268238 CausalMutation 0.1 disgenet
Dorfman Chanarin syndrome PNPLA2 disease C0268238 GeneticVariation 0.1 orphanet , disgenet
Dorfman Chanarin syndrome PNPLA2 disease C0268238 Biomarker 0.1 orphanet , disgenet
Dorfman Chanarin syndrome TTR disease C0268238 Biomarker 0.03 disgenet
Dorfman Chanarin syndrome CD40LG disease C0268238 GeneticVariation 0.02 disgenet
Dorfman Chanarin syndrome LEXM disease C0268238 GeneticVariation 0.02 disgenet
Dorfman Chanarin syndrome CD40LG disease C0268238 Biomarker 0.02 disgenet
Dorfman Chanarin syndrome LEXM disease C0268238 Biomarker 0.02 disgenet
Dorfman Chanarin syndrome DGAT1 disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome AGK disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome PDGFRB disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome ESR1 disease C0268238 GeneticVariation 0.01 disgenet
Dorfman Chanarin syndrome DCX disease C0268238 GeneticVariation 0.01 disgenet
Dorfman Chanarin syndrome NBL1 disease C0268238 GeneticVariation 0.01 disgenet
Dorfman Chanarin syndrome MICOS10-NBL1 disease C0268238 GeneticVariation 0.01 disgenet
Dorfman Chanarin syndrome APOA1 disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome ETFDH disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome ETFB disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome CPT2 disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome CCND1 disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome KDM4A disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome SERPINA1 disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome PLIN1 disease C0268238 GeneticVariation 0.01 disgenet
Dorfman Chanarin syndrome CDK4 disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome CD80 disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome ITGA2B disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome ETFA disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome PARN disease C0268238 GeneticVariation 0.01 disgenet
Dorfman Chanarin syndrome CD86 disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome MDM2 disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome LPIN2 disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome IFNG disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome CDKN2A disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome PNPLA1 disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome SLC22A5 disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome PEMT disease C0268238 GeneticVariation 0.01 disgenet
Dorfman Chanarin syndrome AADAC disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome H3P10 disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome SHOX disease C0268238 GeneticVariation 0.01 disgenet
Dorfman Chanarin syndrome AGT disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome S100A7 disease C0268238 AlteredExpression 0.01 disgenet
Dorfman Chanarin syndrome CIC disease C0268238 Biomarker 0.01 disgenet
Dorfman Chanarin syndrome PLIN2 disease C0268238 GeneticVariation 0.01 disgenet
click here to return to the previous page