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: C3495555
Disease: Carnosinemia
Carnosinemia
0.310 GeneticVariation disease BEFREE Reduced CN1 function should increase serum carnosine concentrations but the genetic basis of carnosinaemia has not been formally confirmed to be due to CNDP1 mutations. 29027595 2018
CUI: C3495555
Disease: Carnosinemia
Carnosinemia
0.310 Biomarker disease CTD_human Serum-carnosinase deficiency in carnosinaemia. 4172777 1968