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 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 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 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 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: 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 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 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 Biomarker disease GENOMICS_ENGLAND
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.340 Biomarker group BEFREE Thus, the NF-κB/miR-155-5p/PKG1 axis may be crucial in the pathogenesis of inflammatory vascular diseases, such as atherosclerotic intimal hyperplasia and preeclamptic hypertension. 30104414 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.340 GeneticVariation group BEFREE Multiple logistic regression adjusted for age and sex showed that subjects carrying rs7897633-A (PRKG1), rs434082-A (SLC8A1) and rs1042714-G (ADRB2) risk alleles had 1.83-, 2.84- and 2.40-fold increased risk for salt-sensitive hypertension, respectively. 28446801 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.340 Biomarker group BEFREE In this way, a drug that we termed G1 was identified, which targets C42 of PKG Iα to induce vasodilation of isolated resistance blood vessels and blood pressure lowering in a mouse model of angiotensin II-induced hypertension. 28716990 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.340 Biomarker group BEFREE In early hypertension, nNOS-derived NO is involved in increases of cGMP/PKG-dependent troponin I (TnI-Ser(23/24)) and cardiac myosin binding protein C (cMBP-C-Ser(273)). 24756636 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.340 Biomarker group RGD Alternative splicing of cGMP-dependent protein kinase I in angiotensin-hypertension: novel mechanism for nitrate tolerance in vascular smooth muscle. 14512447 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.340 Biomarker group HPO
CUI: C0027796
Disease: Neuralgia
Neuralgia 		0.310 Biomarker phenotype CTD_human Two isoforms of cyclic GMP-dependent kinase-I exhibit distinct expression patterns in the adult mouse dorsal root ganglion. 30152261 2018
CUI: C0027796
Disease: Neuralgia
Neuralgia 		0.310 Biomarker phenotype BEFREE PKG1-dependent repair functions will outweigh its signaling functions in spinal nociceptive LTP, so that inhibition of PKG1 is no option for neuropathic pain. 27978504 2017
CUI: C0038870
Disease: Neuralgia, Supraorbital
Neuralgia, Supraorbital 		0.300 Biomarker phenotype CTD_human Two isoforms of cyclic GMP-dependent kinase-I exhibit distinct expression patterns in the adult mouse dorsal root ganglion. 30152261 2018
CUI: C0042656
Disease: Neuralgia, Vidian
Neuralgia, Vidian 		0.300 Biomarker phenotype CTD_human Two isoforms of cyclic GMP-dependent kinase-I exhibit distinct expression patterns in the adult mouse dorsal root ganglion. 30152261 2018
CUI: C0234247
Disease: Neuralgia, Atypical
Neuralgia, Atypical 		0.300 Biomarker phenotype CTD_human Two isoforms of cyclic GMP-dependent kinase-I exhibit distinct expression patterns in the adult mouse dorsal root ganglion. 30152261 2018
CUI: C0234249
Disease: Neuralgia, Stump
Neuralgia, Stump 		0.300 Biomarker phenotype CTD_human Two isoforms of cyclic GMP-dependent kinase-I exhibit distinct expression patterns in the adult mouse dorsal root ganglion. 30152261 2018
CUI: C0423711
Disease: Neuralgia, Perineal
Neuralgia, Perineal 		0.300 Biomarker phenotype CTD_human Two isoforms of cyclic GMP-dependent kinase-I exhibit distinct expression patterns in the adult mouse dorsal root ganglion. 30152261 2018
CUI: C0423712
Disease: Neuralgia, Iliohypogastric Nerve
Neuralgia, Iliohypogastric Nerve 		0.300 Biomarker phenotype CTD_human Two isoforms of cyclic GMP-dependent kinase-I exhibit distinct expression patterns in the adult mouse dorsal root ganglion. 30152261 2018
CUI: C0751371
Disease: Neuralgia, Ilioinguinal
Neuralgia, Ilioinguinal 		0.300 Biomarker phenotype CTD_human Two isoforms of cyclic GMP-dependent kinase-I exhibit distinct expression patterns in the adult mouse dorsal root ganglion. 30152261 2018