Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.310 strong 1.000 2 0 2012 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.310 strong 1.000 2 0 2012 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 strong 1.000 2 0 2012 2019