DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis
0.730 GeneticVariation 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
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis
G 0.730 GeneticVariation GWASCAT Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study. 29066090 2017
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis
0.730 GeneticVariation 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
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis
0.730 GeneticVariation BEFREE Sequence variants in DSP are associated with IPF, and rs2076295 genotype is associated with differential expression of DSP in the lung. 26669357 2016