Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.010 Biomarker disease BEFREE Among the differentially regulated proteins of DES-RA that were identified, lactotransferrin isoform 1 precursor was found to be d own-regulated in 100% cases and SHC transforming 1 isoform in 63% of the cases, while proteins such as ribonuclease p protein subunit 20, protocadherin, and heterogeneous nuclear ribonucleoprotein Q isoform 6 were down-regulated in over 80% of the cases. 27789276 2017