Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.080 GeneticVariation disease BEFREE Pathogenic mutation of ubiquilin 2 (UBQLN2) causes neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. 27456931 2016
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.080 GeneticVariation disease BEFREE Mutations in ubiquilin 2 (Ubqln2) is linked to amyotrophic lateral sclerosis and frontotemporal lobar degeneration. 25388785 2015
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.080 GeneticVariation disease BEFREE UBQLN2 variant of unknown significance in frontotemporal lobar degeneration. 25179229 2015
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.080 GeneticVariation disease BEFREE We conclude that UBQLN-2 mutations related to ALS/FTLD are extremely rare in French FTLD and FTLD-ALS patients and should not be analyzed systematically. 23582661 2013
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.080 GeneticVariation disease BEFREE The frequency of UBQLN2 and PFN1 genetic variants in the FTLD patients was low at 0.30% and 0.91% respectively. 23312802 2013
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.080 Biomarker disease BEFREE Regardless, the recent finding that additional RNA-binding proteins may also cause ALS, and the observation that TDP-43 aggregation remains a core feature in all of the recently identified genetic forms of ALS (C9ORF72, VCP, UBQLN2, and PFN1), underscores the central role of TDP-43 and RNA metabolism in ALS and FTLD. 23041957 2012
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.080 Biomarker disease BEFREE Ubiquilin2 (UBQLN2) is responsible for X-linked FTLD/ALS. 22477152 2012
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.080 GeneticVariation disease BEFREE C9ORF72-hexanucleotide repeat expansions and ubiquilin-2 (UBQLN2) mutations are recently identified genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). 22426854 2012