ERLIN2, ER lipid raft associated 2, 11160

N. diseases: 85; N. variants: 4
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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 GeneticVariation group BEFREE A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 21330303 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group GENOMICS_ENGLAND A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 21330303 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group HPO
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 GeneticVariation disease BEFREE Mutations in genes encoding the neuronal isoform of the inositol 1,4,5-trisphosphate receptor (ITPR1) and genes involved in inositol 1,4,5-trisphosphate receptor degradation (ERLIN1, ERLIN2) are known to cause hereditary spastic paraplegia (HSP) and cerebellar ataxia. 31636353 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 Biomarker disease GENOMICS_ENGLAND A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 29528531 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 GeneticVariation disease CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 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: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 Biomarker disease GENOMICS_ENGLAND The critical role of membralin in postnatal motor neuron survival and disease. 25977983 2015
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 GeneticVariation disease BEFREE A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. 23085305 2013
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 Biomarker disease GENOMICS_ENGLAND Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 23109145 2012
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 GeneticVariation disease BEFREE Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)). 22554690 2012
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		0.310 GermlineCausalMutation disease ORPHANET Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 23109145 2012
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		0.310 Biomarker disease BEFREE Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 23109145 2012
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.300 Biomarker phenotype 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: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.300 Biomarker phenotype GENOMICS_ENGLAND The critical role of membralin in postnatal motor neuron survival and disease. 25977983 2015