PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 24035636 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 22052856 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 19576563 2009