PRKG1, protein kinase cGMP-dependent 1, 5592

N. diseases: 114; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809513
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 8
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		0.700 GeneticVariation disease UNIPROT Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 23910461 2013
CUI: C3809513
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 8
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		0.700 Biomarker disease GENOMICS_ENGLAND PRKG1 and genetic diagnosis of early-onset thoracic aortic disease. 27442293 2016
CUI: C3809513
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 8
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		0.700 CausalMutation disease CLINVAR Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 23910461 2013
CUI: C3809513
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 8
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		0.700 Biomarker disease CTD_human
CUI: C3809513
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 8
AORTIC ANEURYSM, FAMILIAL THORACIC 8 		0.700 CausalMutation disease CLINVAR PRKG1 and genetic diagnosis of early-onset thoracic aortic disease. 27442293 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN PRKG1 and genetic diagnosis of early-onset thoracic aortic disease. 27442293 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 23910461 2013
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN Defective smooth muscle regulation in cGMP kinase I-deficient mice. 9606187 1998
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 GermlineCausalMutation disease ORPHANET Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 23910461 2013
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		0.300 Biomarker disease CTD_human The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome. 26551667 2015
CUI: C0236804
Disease: Amphetamine Addiction
Amphetamine Addiction 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0236807
Disease: Amphetamine Abuse
Amphetamine Abuse 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		0.300 Biomarker disease CTD_human Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS. 21472284 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.220 GeneticVariation disease BEFREE The association between C2276T polymorphism in PRKG1 gene and obesity was tested using linear regression analysis. 15917860 2005
CUI: C0028754
Disease: Obesity
Obesity 		0.220 Biomarker disease RGD Insulin increases glomerular filtration barrier permeability through dimerization of protein kinase G type Iα subunits. 23454089 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.220 AlteredExpression disease BEFREE The transcriptional regulation of adipogenesis in obesity is influenced by AGC (protein kinase A (PKA), PKG, PKC) family signaling kinases. 28585197 2017
CUI: C0002103
Disease: Atopic rhinitis
Atopic rhinitis 		0.200 Biomarker disease RGD Elevated guanylate cyclase and cyclic-guanosine monophosphate-dependent protein kinase levels in nasal mucosae of antigen-challenged rats. 24012634 2013
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Advanced glycation end-products induce vascular dysfunction via resistance to nitric oxide and suppression of endothelial nitric oxide synthase. 20186099 2010
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Therapeutic disease RGD Dysregulation of the endothelial nitric oxide synthase-soluble guanylate cyclase pathway is normalized by insulin in the aorta of diabetic rat. 15939056 2005
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.200 Biomarker disease RGD In contrast, hypogonadism and testosterone replacement reduced PRKG1 protein in Leydig cells. 20463352 2010
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.200 Biomarker disease RGD Dysregulation of cGMP-dependent protein kinase 1 (PKG-1) impairs erectile function in diabetic rats: influence of in vivo gene therapy of PKG1alpha. 17355372 2007
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		0.110 Biomarker disease HPO
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		0.110 GeneticVariation disease BEFREE Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 23910461 2013
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		0.110 GeneticVariation disease BEFREE Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection. 30577811 2018