PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: Progeria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033300
Disease: Progeria
Progeria 		0.310 GeneticVariation disease BEFREE We additionally expand the clinical spectrum associated with PYCR1 mutations by showing that they can somewhat resemble HGPS in the first year of life. 30450527 2018
CUI: C0033300
Disease: Progeria
Progeria 		0.310 Biomarker disease CTD_human Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009