Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 Biomarker disease HPO
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 Biomarker disease BEFREE Genes linked to rare cases of familial ALS and/or FTD, like FUS, TARDBP, OPTN, and UBQLN2 may converge onto a unifying pathogenic pathway and thereby provide novel therapeutic targets common to a spectrum of etiologically diverse forms of ALS and ALS-FTD. 21901496 2011
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 Biomarker disease BEFREE UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia. 22246868 2012
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE As part of an established exome sequencing program to identify disease genes in familial ALS, we identified a novel missense UBQLN2 mutation (c.1460C>T, p.T487I) in 2 apparently unrelated multigenerational ALS families with no evidence of frontotemporal dementia. 22717235 2012
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 Biomarker disease BEFREE UBQLN2 is able to cause any disease on the ALS-FTD continuum, including pure FTD. 22892309 2012
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE Clinical sequencing of UBQLN2 in a family with X-linked FTD/ALS with suspected incomplete penetrance, manifesting in both genders, revealed a P506S mutation in. 23944734 2013
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE We analysed the UBQLN2 gene in 819 SALS cases, 226 FALS cases, 53 ALS-FTD patients, and 63 patients with a clinical record of FTD. 23138764 2013
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 AlteredExpression disease BEFREE UBQLN2 was found to be a potent regulator of the levels of the FTD-linked secretory factor progranulin, possibly via the endosomal system, and ALS-linked mutations disturbed these functional consequences. 25398946 2015
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE To investigate this further, we have sequenced the ALS gene UBQLN2 in our FTD cohort and have found a single putative mutation. 25179229 2015
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 Biomarker disease BEFREE Mutations in the UBQLN2 gene, which encodes a member of the ubiquitin-like protein family (ubiquilin-2), have been identified in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS with frontotemporal dementia (FTD). 28125704 2017
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). 28716533 2017
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 Biomarker disease BEFREE In a search for UBQLN2-interacting proteins, we found an enrichment of stress granule (SG) components, including ALS/FTD-linked heterogeneous ribonucleoprotein fused in sarcoma (FUS). 30442662 2018
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE Mutations in a proline-rich-repeat region (PRR) of UBQLN2 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD); however, neither the normal functions of the PRR nor impacts of ALS-associated mutations within it are well understood. 29161404 2018
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. 30348461 2019
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 Biomarker disease BEFREE Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia. 31319884 2019
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE Mutations in the gene encoding ubiquilin-2 (UBQLN2) are linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 30377984 2019
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.200 GeneticVariation disease BEFREE Hence, this study highlights perturbations in secretory protein trafficking and ER homeostasis as pathogenic mechanisms associated with ALS/FTD-associated forms of UBQLN2. 31802140 2019