Source: UNIPROT

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 GeneticVariation UNIPROT Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation UNIPROT Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476

2014