Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker GENOMICS_ENGLAND We identified five individuals with biallelic PCYT2 variants clinically characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy. 31637422

2019

Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker GENOMICS_ENGLAND We identified five individuals with biallelic PCYT2 variants clinically characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy. 31637422

2019

Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker GENOMICS_ENGLAND Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice. 22764088

2012