ERLIN2, ER lipid raft associated 2, 11160

N. diseases: 85; N. variants: 4
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 29528531 2018
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND The critical role of membralin in postnatal motor neuron survival and disease. 25977983 2015
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 23109145 2012
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 21330303 2011
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 GermlineCausalMutation disease ORPHANET A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 21330303 2011
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 GeneticVariation disease CLINVAR
CUI: C2749936
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 		0.700 Biomarker disease CTD_human