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