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: rs121912992
rs121912992
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
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
dbSNP: rs121912992
rs121912992
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
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
dbSNP: rs121912992
rs121912992
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
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
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0206062
Disease:
Lung Diseases, Interstitial
G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0206062
Disease:
Lung Diseases, Interstitial
G 0.800 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs121912992
rs121912992
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
G 0.800 CausalMutation CLINVAR
dbSNP: rs121912993
rs121912993
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs121912993
rs121912993
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs606231294
rs606231294
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
0.800 GeneticVariation UNIPROT
dbSNP: rs606231294
rs606231294
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
T 0.800 CausalMutation CLINVAR
dbSNP: rs606231295
rs606231295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
T 0.800 CausalMutation CLINVAR
dbSNP: rs606231295
rs606231295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4014393
Disease:
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
0.800 GeneticVariation UNIPROT
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
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0024117
Disease:
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
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0024117
Disease:
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
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0024117
Disease:
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
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0042834
Disease:
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
dbSNP: rs2076295
rs2076295
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0042834
Disease:
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs746877365
rs746877365
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C4551647
Disease:
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
dbSNP: rs141026028
rs141026028
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
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
dbSNP: rs141026028
rs141026028
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843896
Disease:
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
dbSNP: rs141026028
rs141026028
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1854063
Disease:
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