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: 55275
Gene Symbol: VPS53
VPS53 		VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C4014488
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 		disease 0.700 None 1.000 3 0 1989 2018
Entrez Id: 55275
Gene Symbol: VPS53
VPS53 		VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 1 0 1989 1989
Entrez Id: 55275
Gene Symbol: VPS53
VPS53 		VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		disease 0.300 moderate 1.000 1 0 2014 2014
Entrez Id: 55275
Gene Symbol: VPS53
VPS53 		VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 1989 1989
Entrez Id: 55275
Gene Symbol: VPS53
VPS53 		VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 strong 1.000 1 0 1989 1989