PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: Premature aging syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.010 GeneticVariation disease BEFREE A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. 21567914 2011