Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.160 Biomarker phenotype BEFREE Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>. 31068484 2019
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.160 GeneticVariation phenotype BEFREE Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. 30098094 2019
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.160 GeneticVariation phenotype BEFREE Our findings widen the spectrum of SPG7 mutations of ARHSP and indicate that the SPG7 mutation is an important cause of adult-onset undiagnosed ataxia. 30497413 2018
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.160 GeneticVariation phenotype BEFREE Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function. 27476418 2017
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.160 CausalMutation phenotype CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.160 Biomarker phenotype BEFREE Additional clinical features were noted, including optic atrophy and ataxia for patients with SPG5 and ataxia and a chronic progressive external ophthalmoplegia-like phenotype for SPG7. 23812641 2013
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.160 Biomarker phenotype BEFREE Here we report an early-onset severe neurological phenotype in Spg7(-/-) Afg3l2(Emv66/+) mice, characterized by loss of balance, tremor and ataxia. 19289403 2009