Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 Biomarker GENOMICS_ENGLAND Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia. 29123918

2017
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 Biomarker GENOMICS_ENGLAND The present report expands the phenotypic spectrum of SPG45 and confirms NT5C2-SPG45 as a member of the rare TCC SPG-subtypes. 28327087

2017
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 Biomarker GENOMICS_ENGLAND Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. 19415352

2009
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. 19415352

2009