| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | Biomarker | disease | 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 | ||||
|
0.710 | Biomarker | disease | BEFREE | The present report expands the phenotypic spectrum of SPG45 and confirms NT5C2-SPG45 as a member of the rare TCC SPG-subtypes. | 28327087 | 2017 | ||||
|
0.710 | Biomarker | disease | 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 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. | 28884889 | 2017 | ||||
|
0.710 | GeneticVariation | disease | CLINVAR | Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. | 24482476 | 2014 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. | 24482476 | 2014 | ||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET | Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. | 24482476 | 2014 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. | 19415352 | 2009 | ||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.710 | CausalMutation | disease | CLINVAR | |||||||
|
0.010 | Biomarker | disease | BEFREE | The present report expands the phenotypic spectrum of SPG45 and confirms NT5C2-SPG45 as a member of the rare TCC SPG-subtypes. | 28327087 | 2017 | ||||
|
0.010 | Biomarker | disease | BEFREE | The present report expands the phenotypic spectrum of SPG45 and confirms NT5C2-SPG45 as a member of the rare TCC SPG-subtypes. | 28327087 | 2017 |