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: C0036572
Disease: Seizures
Seizures
0.300 Biomarker GENOMICS_ENGLAND Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. 31637422

2019

Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0036572
Disease: Seizures
Seizures
0.300 Biomarker GENOMICS_ENGLAND Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. 31637422

2019

Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0036572
Disease: Seizures
Seizures
0.300 Biomarker GENOMICS_ENGLAND Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice. 22764088

2012