Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.310 Biomarker GENOMICS_ENGLAND Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice. 22764088

2012
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.310 Biomarker GENOMICS_ENGLAND Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. 15331424

2004