Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 CausalMutation disease CLINVAR Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia. 29629531 2018
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 Biomarker disease MGD Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. 27638887 2016
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 Biomarker disease BEFREE Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). 26671083 2015
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 CausalMutation disease CLINVAR Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. 26201691 2015
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 CausalMutation disease CLINVAR Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. 24478229 2014
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease UNIPROT Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. 24478229 2014
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease UNIPROT Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882 2012
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882 2012
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 CausalMutation disease CLINVAR Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882 2012
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GermlineCausalMutation disease ORPHANET Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882 2012
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease UNIPROT Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease UNIPROT REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. 21618648 2011
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 CausalMutation disease CLINVAR Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease BEFREE Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). 19034539 2009
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 CausalMutation disease CLINVAR New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). 19034539 2009
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 Biomarker disease GENOMICS_ENGLAND REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. 18321925 2008
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease UNIPROT Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). 18644145 2008
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease CLINVAR REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. 18321925 2008
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease UNIPROT Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. 16826527 2006
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 GeneticVariation disease CLINVAR Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. 16826527 2006
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 CausalMutation disease CLINVAR Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. 16826527 2006
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.920 Biomarker disease CTD_human
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.010 GeneticVariation disease BEFREE Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). 26671083 2015