Gene: ERLIN2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		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
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		0.430 Biomarker disease GENOMICS_ENGLAND A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 29528531 2018
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		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
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		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
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		0.430 Biomarker disease GENOMICS_ENGLAND The critical role of membralin in postnatal motor neuron survival and disease. 25977983 2015
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		0.430 GeneticVariation disease BEFREE A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. 23085305 2013
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		0.430 Biomarker disease GENOMICS_ENGLAND Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 23109145 2012
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		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