ERLIN2, ER lipid raft associated 2, 11160

N. diseases: 85; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763958615
rs763958615
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 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: rs1554517382
rs1554517382
Entrez Id: 11160;728024
Gene Symbol: ERLIN2;LOC728024
ERLIN2;LOC728024
CUI: C2749936
Disease:
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		CCTGGCTGTGACCTGGGCTGTGA 0.700 GeneticVariation CLINVAR
dbSNP: rs398123002
rs398123002
Entrez Id: 11160;728024
Gene Symbol: ERLIN2;LOC728024
ERLIN2;LOC728024
CUI: C2749936
Disease:
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776893
rs587776893
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C2749936
Disease:
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		GCA 0.700 CausalMutation CLINVAR