Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Further, previous studies involving various ethnic groups have revealed associations between COPD and genetic polymorphisms in families with sequence similarity 13, member A (FAM13A), micro-RNA 2054 (MIR2054), SET domain containing protein 7 (SETD7), ring finger protein 150 (RNF150), hedgehog interacting protein (HHIP), and vascular endothelial growth factor A (VEGFA). 26251585 2015
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease GWASCAT A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. 22080838 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 AlteredExpression disease BEFREE Cellular localization of FAM13A protein and mRNA levels of FAM13A in COPD lungs were assessed using immunofluorescence, Western blotting, and reverse transcriptase-polymerase chain reaction, respectively. 26862784 2016
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Cumulative genetic risk score analyses (CGRS), derived by adding risk alleles, revealed that the risk for COPD increased with the growing number of the FAM13A risk alleles. 26310313 2015
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 Biomarker disease BEFREE We performed lung gene expression profiling of two different wild-type murine strains (C57BL/6 and NZW/LacJ) and two genetic models with mutations in COPD genome-wide association study genes (HHIP and FAM13A) after 6 months of chronic CS exposure and compared the results to human COPD lung tissues. 28248572 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease GWASCAT Variants in FAM13A are associated with chronic obstructive pulmonary disease. 20173748 2010
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease GWASCAT IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease. 25101718 2015
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Analysis of 6633 individuals with moderate to severe COPD and 5704 control individuals confirmed association at three known loci: CHRNA3 (p=6·38 × 10(-14)), FAM13A (p=1·12 × 10(-14)), and HHIP (p=1·57 × 10(-12)). 24621683 2014
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE The aim of this study was to investigate whether FAM13A polymorphisms would be associated with COPD susceptibility and COPD-related phenotypes in a Chinese Han population. 23891779 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 Biomarker disease CTD_human We noted two loci shared with pulmonary fibrosis (FAM13A and DSP) but that had opposite risk alleles for COPD. 28166215 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 Biomarker disease BEFREE Family with sequence similarity 13 member A (FAM13A) has been previously associated with lung function in several lung diseases, including chronic obstructive pulmonary disease, asthma, lung cancer, and pulmonary fibrosis. 30604588 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Variants in FAM13A have been found in genome-wide association studies (GWAS) to associate with lung function in the general population as well as in several common chronic lung diseases (CLD) such as chronic obstructive pulmonary disease (COPD), asthma, as well as in idiopathic interstitial pneumonias (IIP). 25163686 2014
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE rs17014601 in FAM13A was significantly associated with COPD in the additive (odds ratio [OR]=1.36, 95% confidence interval [CI]: 1.11-1.67, <i>P</i>=0.003), heterozygote (OR=1.76, 95% CI: 1.33-2.32, <i>P</i>=0.0001), and dominant (OR=1.67, 95% CI: 1.28-2.18, <i>P</i>=0.0001) models. 29872291 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 GeneticVariation disease BEFREE Here, we provide a framework that integrates the existing human interactome information with experimental protein-protein interaction data for FAM13A, one of the most highly associated genetic loci to COPD, to find a more comprehensive disease network module. 30262855 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.500 Biomarker disease CTD_human Variants in FAM13A are associated with chronic obstructive pulmonary disease. 20173748 2010
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.440 Biomarker disease BEFREE Family with sequence similarity 13 member A (FAM13A) has been previously associated with lung function in several lung diseases, including chronic obstructive pulmonary disease, asthma, lung cancer, and pulmonary fibrosis. 30604588 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.440 Biomarker disease HPO
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.440 Biomarker disease CTD_human We noted two loci shared with pulmonary fibrosis (FAM13A and DSP) but that had opposite risk alleles for COPD. 28166215 2017
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.440 GeneticVariation disease BEFREE We noted two loci shared with pulmonary fibrosis (FAM13A and DSP) but that had opposite risk alleles for COPD. 28166215 2017
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.440 Biomarker disease BEFREE The expression of FAM13A and miR-328 was measured in PF rats, and gain- and loss-of-function assays were conducted to determine the regulatory effects of FAM13A and miR-328 on PF. 31164635 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.440 GeneticVariation disease BEFREE Two recent genome-wide association studies (GWASs) reported that the FAM13A gene at the 4q22 locus associated with pulmonary fibrosis (defined by rs2609255) overlapping with COPD (defined by rs6837671). 29621588 2018
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		0.300 SusceptibilityMutation disease ORPHANET Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction 		0.300 Biomarker disease CTD_human Variants in FAM13A are associated with chronic obstructive pulmonary disease. 20173748 2010
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction 		0.300 Biomarker disease CTD_human Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. 28166215 2017