Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3178
Gene Symbol: HNRNPA1
HNRNPA1
0.150 Biomarker disease HPO
Entrez Id: 3178
Gene Symbol: HNRNPA1
HNRNPA1
0.150 Biomarker disease BEFREE These mutations were shown to increase the propensity of hnRNPA1 and A2/B1 proteins, which are TDP-43-binding partners, to self-aggregate. hnRNPA3 protein contains a similar PrLD and was recently described in the p62-positive/TDP-43-negative inclusions in affected tissues of C9orf72-mutated ALS/FTD patients. 23827524 2013
Entrez Id: 3178
Gene Symbol: HNRNPA1
HNRNPA1
0.150 AlteredExpression disease BEFREE Most importantly, the expression of hnRNP A1/A2 and PTB/nPTB is significantly altered in patients with frontotemporal dementia with TDP-43-positive inclusions (FTLD-TDP), indicating that perturbations in RNA metabolism and processing in FTLD-TDP are not exclusively driven by a loss of TDP-43 function. 26614389 2016
Entrez Id: 3178
Gene Symbol: HNRNPA1
HNRNPA1
0.150 Biomarker disease BEFREE Immunostaining for hnRNP A1, A2/B1 and A3 was performed on sections of temporal cortex with hippocampus from 61 patients with FTLD, stratified by pathological hallmarks into FTLD-tau and FTLD-TDP type A, B and C subtypes, and by genetics into patients with C9orf72 expansions, MAPT or GRN mutations, or those without known mutation. 28431575 2017
Entrez Id: 3178
Gene Symbol: HNRNPA1
HNRNPA1
0.150 Biomarker disease BEFREE Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. 29131108 2017
Entrez Id: 3178
Gene Symbol: HNRNPA1
HNRNPA1
0.150 Biomarker disease BEFREE Mutations in RNA-binding proteins (RBPs) localized in ribonucleoprotein (RNP) granules, such as hnRNP A1 and TDP-43, promote aberrant protein aggregation, which is a pathological hallmark of various neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 30728452 2019