ERLIN2, ER lipid raft associated 2, 11160

N. diseases: 85; N. variants: 4
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554517382
rs1554517382 		1.000 0.240 8 37749852 splice donor variant TGTGAGTATAC/CCTGGCTGTGACCTGGGCTGTGA delins
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123002
rs398123002 		1.000 0.240 8 37749793 splice acceptor variant G/T snv
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587776893
rs587776893 		1.000 0.240 8 37753521 frameshift variant -/AC delins
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0