PRKG1, protein kinase cGMP-dependent 1, 5592

N. diseases: 114; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515330
rs397515330
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C3809513
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		A 0.800 CausalMutation CLINVAR PRKG1 and genetic diagnosis of early-onset thoracic aortic disease. 27442293 2016
dbSNP: rs397515330
rs397515330
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C3809513
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs397515330
rs397515330
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C3809513
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		A 0.800 CausalMutation CLINVAR Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 23910461 2013
dbSNP: rs397515330
rs397515330
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C3809513
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		0.800 GeneticVariation UNIPROT Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 23910461 2013
dbSNP: rs6479874
rs6479874
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0149931
Disease:
Migraine Disorders 		T 0.800 GeneticVariation GWASCAT Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025 2013
dbSNP: rs6479874
rs6479874
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0149931
Disease:
Migraine Disorders 		T 0.800 GeneticVariation GWASDB Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025 2013
dbSNP: rs7922491
rs7922491
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0004096
Disease:
Asthma 		A 0.800 GeneticVariation GWASDB Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. 21907864 2011
dbSNP: rs7922491
rs7922491
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0004096
Disease:
Asthma 		A 0.800 GeneticVariation GWASCAT Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. 21907864 2011
dbSNP: rs10823893
rs10823893
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs11000060
rs11000060
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4595495
rs4595495
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs61847307
rs61847307
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0036341
Disease:
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
dbSNP: rs61849823
rs61849823
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6479841
rs6479841
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs76442815
rs76442815
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs10823860
rs10823860
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs12268753
rs12268753
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C1285654
Disease:
Memory performance 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. 29274321 2018
dbSNP: rs1937680
rs1937680
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs61847307
rs61847307
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs61847307
rs61847307
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0008074
Disease:
Child Development Disorders, Pervasive 		0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs61847307
rs61847307
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0036341
Disease:
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
dbSNP: rs61847307
rs61847307
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0036341
Disease:
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
dbSNP: rs7897633
rs7897633
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. 25338677 2015
dbSNP: rs7897633
rs7897633
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C2825875
Disease:
Interferon Alpha Measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. 25338677 2015
dbSNP: rs10762524
rs10762524
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		0.700 GeneticVariation GWASDB Case-control genome-wide association study of attention-deficit/hyperactivity disorder. 20732627 2010