Gene: PYCR2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		0.130 GeneticVariation disease BEFREE Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360 2017
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		0.130 GeneticVariation disease BEFREE PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. 27130255 2016
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		0.130 GeneticVariation disease BEFREE Here, we report mutations in PYCR2, which encodes an enzyme in the proline biosynthesis pathway, as the cause of a unique syndrome characterized by postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume. 25865492 2015
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		0.130 Biomarker disease HPO