Gene: REEP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.130 GeneticVariation disease BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077 2018
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.130 GeneticVariation disease BEFREE Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability. 29107646 2018
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.130 Biomarker disease BEFREE A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. 24051375 2013
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.130 CausalMutation disease CLINVAR
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.130 Biomarker disease HPO