PFN1, profilin 1, 5216

N. diseases: 119; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 Biomarker disease BEFREE In silico analysis of PFN1 related to amyotrophic lateral sclerosis. 31216283 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE Mutations of Profilin-1 Associated with Amyotrophic Lateral Sclerosis Promote Aggregation Due to Structural Changes of Its Native State. 26226631 2015
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE In summary, we conclude that genetic variations in UBQLN2 and PFN1 in a predominantly Flanders-Belgian cohort of FTLD and ALS patients are extremely rare. 23312802 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE A set of missense mutations in the gene encoding profilin-1 has been linked to the onset of familial forms of ALS (fALS), also known as Lou Gehrig's disease. 29760185 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE Although profilin 1 C71G was only expressed during development, adult mice presented with some ALS-associated pathology and motor symptoms. 31611772 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE In a German ALS family we identified the novel heterozygous PFN1 mutation p.Thr109Met, which was absent in controls. 23141414 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE In this study, we investigated the mutation spectrum of PFN1 in Chinese patients with ALS. 23428184 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 Biomarker disease BEFREE Given this genetic interaction and recent evidence linking stress granule dynamics to ALS pathogenesis, we hypothesized that profilin 1 might also associate with stress granules. 24920614 2014
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE Impaired actin binding is a common denominator of several PFN1 mutations associated with amyotrophic lateral sclerosis, although further mechanisms may also contribute to the death of motor neurons. 26572741 2015
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation disease ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE PFN1 is a small actin-binding protein that promotes formin-based actin polymerization and regulates numerous cellular functions, but how the mutations in PFN1 cause ALS is unclear. 27681617 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation disease ORPHANET Cells expressing PFN1 mutants contain ubiquitinated, insoluble aggregates that in many cases contain the ALS-associated protein TDP-43. 22801503 2012
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE Here, we combine a screen of a new cohort of 383 ALS patients with multiple-sequence datasets to refine estimates of the ALS and FTD risk associated with PFN1 E117G. 24309268 2014
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE We conclude that mutations in PFN1 are not a common cause for ALS/FTLD in France. 23182804 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE No mutations were identified in our cohort suggesting that PFN1 gene mutations are a very rare cause of familial ALS among patients with predominantly European ancestry. 23062600 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE Here, we investigated direct effects of profilin on microtubule dynamics and whether ALS-linked mutations in PFN1 disrupt such functions. 29129529 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation disease BEFREE Our data suggest that PFN1 mutations and pathology are not common in an Australian ALS cohort of predominantly European ancestry. 23635659 2013
CUI: C0022548
Disease: Keloid
Keloid 		0.300 Biomarker disease CTD_human Comparative proteomic analysis between normal skin and keloid scar. 20128793 2010
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.300 Biomarker disease CTD_human Using proteomic approach to identify tumor-associated proteins as biomarkers in human esophageal squamous cell carcinoma. 21517111 2011
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		0.200 Biomarker disease RGD Enhanced glomerular profilin gene and protein expression in experimental mesangial proliferative glomerulonephritis. 8651905 1996
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.110 Biomarker disease BEFREE The ALS-18 was significantly associated with concurrent measures of depression and difficulties in emotion regulation. 29651267 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.110 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO