Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 Biomarker disease BEFREE SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene. 30637453 2019
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review. 28099355 2017
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 Biomarker disease MGD Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins. 27638887 2016
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins. 27638887 2016
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease BEFREE Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083 2015
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 Biomarker disease BEFREE Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. 26201691 2015
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease BEFREE REEP1 is an ER protein mutated in hereditary spastic paraplegia (HSP) and hereditary motor neuropathy (HMN). 24478229 2014
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 Biomarker disease BEFREE The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles due to axonal degeneration of corticospinal neurons.Beetz et al. report that the core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associated gene Reep1. 24051371 2013
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease BEFREE Loss-of-function REEP1 mutations have previously been identified in dominant hereditary spastic paraplegia (HSP), a disease associated with upper-motoneuron pathology. 22703882 2012
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 Biomarker disease BEFREE Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease BEFREE New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). 19034539 2009
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease LHGDN REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. 18321925 2008
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease BEFREE REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. 18321925 2008
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.400 GeneticVariation disease BEFREE Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. 16826527 2006