rs121912992
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs121912992
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121912992
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Lung Diseases, Interstitial
G
0.800
GeneticVariation
GWASCAT
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
23583980
2013
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Lung Diseases, Interstitial
G
0.800
GeneticVariation
GWASDB
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
23583980
2013
rs121912992
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
G
0.800
CausalMutation
CLINVAR
rs121912993
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Skin Fragility-Woolly Hair Syndrome
G
0.800
CausalMutation
CLINVAR
rs121912993
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Skin Fragility-Woolly Hair Syndrome
0.800
GeneticVariation
UNIPROT
rs606231294
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
0.800
GeneticVariation
UNIPROT
rs606231294
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
T
0.800
CausalMutation
CLINVAR
rs606231295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
T
0.800
CausalMutation
CLINVAR
rs606231295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
0.800
GeneticVariation
UNIPROT
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
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
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Chronic Obstructive Airway Disease
0.710
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
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Chronic Obstructive Airway Disease
T
0.710
GeneticVariation
GWASCAT
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
30804561
2019
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Chronic Obstructive Airway Disease
T
0.710
GeneticVariation
GWASCAT
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.
28166215
2017
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Vital capacity
T
0.700
GeneticVariation
GWASCAT
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
30804560
2019
rs2076295
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Vital capacity
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs746877365
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Long QT Syndrome 1
T
0.700
CausalMutation
CLINVAR
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
30382575
2019
rs141026028
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
T
0.700
GeneticVariation
CLINVAR
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
28442525
2017
rs141026028
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
T
0.700
GeneticVariation
CLINVAR
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
28527814
2017
rs141026028
×
Entrez Id:
1832
Gene Symbol:
DSP
DSP
Cardiomyopathy dilated with Woolly hair and keratoderma
T
0.700
GeneticVariation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017