PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE Mutations in the PYCR1 gene cause cutis laxa with progeroid features and mental retardation. 27796797 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group GENOMICS_ENGLAND Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 26516448 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE We describe here the clinical findings in four affected individuals in a family with geroderma osteodysplasticum with mental retardation and a homozygous mutation in PYCR1. 21204221 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO