Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 GeneticVariation disease BEFREE However, in the candidate region analysis, rs2076295 in the DSP gene, previously associated with COPD, lung function and idiopathic pulmonary fibrosis, was associated with change in %LAA-950 (β (SE) = 0.09 (0.02), P = 3.79e-05) and in ALD (β (SE) = - 0.06 (0.02), P = 2.88e-03). 31324189 2019
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 GeneticVariation disease BEFREE Two genome-wide association studies and one sequencing study have coincidently reported significant associations of single nucleotide polymorphisms (SNPs) in the desmoplakin (DSP) gene with the risk of pulmonary fibrosis (mainly idiopathic pulmonary fibrosis). 30207747 2018
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 Biomarker disease BEFREE In burden tests, rare missense variants in three genes (CSF3R, DSP, and LAMA3) were identified that have a statistically significant relationship with IPF. 29920840 2018
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 AlteredExpression disease BEFREE Subjects with IPF express a significantly higher level of DSP than control subjects. 29924937 2018
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 GeneticVariation disease GWASCAT Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study. 29066090 2017
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 GeneticVariation disease BEFREE We identified a novel genome-wide significant signal of association with IPF susceptibility near A-kinase anchoring protein 13 (AKAP13; rs62025270, odds ratio [OR] 1·27 [95% CI 1·18-1·37], p=1·32 × 10<sup>-9</sup>) and confirmed previously reported signals, including in mucin 5B (MUC5B; rs35705950, OR 2·89 [2·56-3·26], p=1·12 × 10<sup>-66</sup>) and desmoplakin (DSP; rs2076295, OR 1·44 [1·35-1·54], p=7·81 × 10<sup>-28</sup>). 29066090 2017
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 AlteredExpression disease BEFREE DSP expression is 2.3-fold increased (95% CI = 1.91-2.71) in IPF lung tissue (P < 0.0001). 26669357 2016
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 Biomarker disease CTD_human Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.660 SusceptibilityMutation disease ORPHANET Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013