Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838180
Disease: CODAS syndrome
CODAS syndrome
0.010 Biomarker disease BEFREE Overall, LonP1, as opposed to ClpP, appears to have no effect on translational machinery, instead it shows enhanced respiratory dysfunction; this agrees with reports on the human CODAS syndrome (syndrome with cerebral, ocular, dental, auricular, and skeletal anomalies) caused by LonP1 mutations. 31547314 2019