PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: De Barsy syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.010 GeneticVariation disease BEFREE The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with DBS. 22052856 2011