CNDP1, carnosine dipeptidase 1, 84735

N. diseases: 49; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits
0.300 Biomarker phenotype CTD_human Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. 4673339 1972