REEP1, receptor accessory protein 1, 65055

N. diseases: 79; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. 26201691 2015
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. 24478229 2014
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. 24478229 2014
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882 2012
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882 2012
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. 21618648 2011
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). 18644145 2008
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. 16826527 2006
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. 16826527 2006
dbSNP: rs1060503496
rs1060503496
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT
dbSNP: rs1060503496
rs1060503496
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs121918263
rs121918263
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia. 29629531 2018
dbSNP: rs1266102026
rs1266102026
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		G 0.700 GeneticVariation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
dbSNP: rs121918263
rs121918263
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). 19034539 2009
dbSNP: rs1558875298
rs1558875298
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		C 0.700 GeneticVariation CLINVAR REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. 18321925 2008
dbSNP: rs1558875298
rs1558875298
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		C 0.700 GeneticVariation CLINVAR Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. 16826527 2006
dbSNP: rs1060503493
rs1060503493
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT
dbSNP: rs1060503494
rs1060503494
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1064792986
rs1064792986
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121918262
rs121918262
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C0037772
Disease:
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs377637314
rs377637314
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906263
rs387906263
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs387906263
rs387906263
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C1853247
Disease:
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR