Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5592
Gene name	Protein kinase cGMP-dependent 1
Gene symbol	PRKG1
Synonyms (NCBI Gene)	AAT8PKGPKG1PRKG1BPRKGR1BcGKcGK 1cGK1cGKIcGKI-BETAcGKI-alpha
Chromosome	10
Chromosome location	10q11.23-q21.1
Summary	Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149710600	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs397515330	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437765	hsa-miR-20a-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	25447536
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT439895	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439895	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT1263645	hsa-miR-1257	CLIP-seq
MIRT1263646	hsa-miR-219-2-3p	CLIP-seq
MIRT1263647	hsa-miR-2355-5p	CLIP-seq
MIRT1263648	hsa-miR-2964a-3p	CLIP-seq
MIRT1263649	hsa-miR-302f	CLIP-seq
MIRT1263650	hsa-miR-3140-3p	CLIP-seq
MIRT1263651	hsa-miR-3664-5p	CLIP-seq
MIRT1263652	hsa-miR-3679-3p	CLIP-seq
MIRT1263653	hsa-miR-4286	CLIP-seq
MIRT1263654	hsa-miR-4446-5p	CLIP-seq
MIRT1263646	hsa-miR-219-2-3p	CLIP-seq
MIRT1263655	hsa-miR-298	CLIP-seq
MIRT1263656	hsa-miR-29a	CLIP-seq
MIRT1263657	hsa-miR-29b	CLIP-seq
MIRT1263658	hsa-miR-29c	CLIP-seq
MIRT1263659	hsa-miR-3182	CLIP-seq
MIRT1263660	hsa-miR-3678-3p	CLIP-seq
MIRT1263661	hsa-miR-376c	CLIP-seq
MIRT1263662	hsa-miR-4677-3p	CLIP-seq
MIRT1263663	hsa-miR-4679	CLIP-seq
MIRT1263664	hsa-miR-586	CLIP-seq
MIRT1263665	hsa-miR-622	CLIP-seq
MIRT2077591	hsa-miR-181a	CLIP-seq
MIRT2077592	hsa-miR-181b	CLIP-seq
MIRT2077593	hsa-miR-181c	CLIP-seq
MIRT2077594	hsa-miR-181d	CLIP-seq
MIRT2077595	hsa-miR-3143	CLIP-seq
MIRT2077596	hsa-miR-3671	CLIP-seq
MIRT2077597	hsa-miR-4262	CLIP-seq
MIRT2077598	hsa-miR-543	CLIP-seq
MIRT2077599	hsa-miR-607	CLIP-seq
MIRT2304122	hsa-miR-103a	CLIP-seq
MIRT2304123	hsa-miR-107	CLIP-seq
MIRT2304124	hsa-miR-1183	CLIP-seq
MIRT2304125	hsa-miR-1243	CLIP-seq
MIRT2304126	hsa-miR-1245b-3p	CLIP-seq
MIRT2304127	hsa-miR-139-5p	CLIP-seq
MIRT2304128	hsa-miR-15a	CLIP-seq
MIRT2304129	hsa-miR-15b	CLIP-seq
MIRT2304130	hsa-miR-16	CLIP-seq
MIRT2304131	hsa-miR-195	CLIP-seq
MIRT2304132	hsa-miR-2117	CLIP-seq
MIRT2304133	hsa-miR-2681	CLIP-seq
MIRT2304134	hsa-miR-365	CLIP-seq
MIRT2304135	hsa-miR-3654	CLIP-seq
MIRT2077596	hsa-miR-3671	CLIP-seq
MIRT2304136	hsa-miR-3685	CLIP-seq
MIRT2304137	hsa-miR-384	CLIP-seq
MIRT2304138	hsa-miR-3910	CLIP-seq
MIRT2304139	hsa-miR-3921	CLIP-seq
MIRT2304140	hsa-miR-424	CLIP-seq
MIRT2304141	hsa-miR-4252	CLIP-seq
MIRT2304142	hsa-miR-4256	CLIP-seq
MIRT2304143	hsa-miR-4273	CLIP-seq
MIRT2304144	hsa-miR-4653-5p	CLIP-seq
MIRT2304145	hsa-miR-4677-5p	CLIP-seq
MIRT2304146	hsa-miR-4703-3p	CLIP-seq
MIRT2304147	hsa-miR-497	CLIP-seq
MIRT2304148	hsa-miR-548an	CLIP-seq
MIRT2077599	hsa-miR-607	CLIP-seq
MIRT2601106	hsa-miR-299-5p	CLIP-seq
MIRT2601107	hsa-miR-3613-3p	CLIP-seq
MIRT2601108	hsa-miR-3613-5p	CLIP-seq
MIRT2601109	hsa-miR-4433	CLIP-seq
MIRT2601110	hsa-miR-4520a-3p	CLIP-seq
MIRT2601111	hsa-miR-4520b-3p	CLIP-seq
MIRT2601112	hsa-miR-4781-3p	CLIP-seq
MIRT2601113	hsa-miR-568	CLIP-seq
MIRT2601114	hsa-miR-659	CLIP-seq

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	25447536
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004692	Function	CGMP-dependent protein kinase activity	IDA	21402151
GO:0004692	Function	CGMP-dependent protein kinase activity	IEA
GO:0004692	Function	CGMP-dependent protein kinase activity	TAS
GO:0005246	Function	Calcium channel regulator activity	IDA	21402151
GO:0005515	Function	Protein binding	IPI	14608379, 16990611, 18757735, 19424179, 21402151, 25416956, 31515488, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IDA	21402151
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	16990611, 21402151
GO:0005886	Component	Plasma membrane	IEA
GO:0006468	Process	Protein phosphorylation	IDA	15905169
GO:0006468	Process	Protein phosphorylation	TAS	10851246
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	2792381
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007507	Process	Heart development	IEA
GO:0010920	Process	Negative regulation of inositol phosphate biosynthetic process	IEA
GO:0014050	Process	Negative regulation of glutamate secretion	IEA
GO:0014912	Process	Negative regulation of smooth muscle cell migration	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	10851246
GO:0030553	Function	CGMP binding	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	20826808, 27066748
GO:0043087	Process	Regulation of GTPase activity	IMP	14608379
GO:0043114	Process	Regulation of vascular permeability	IDA	36016499
GO:0043114	Process	Regulation of vascular permeability	IDA	36016499
GO:0045986	Process	Negative regulation of smooth muscle contraction	IEA
GO:0048273	Function	Mitogen-activated protein kinase p38 binding	IEA
GO:0048668	Process	Collateral sprouting	IEA
GO:0060087	Process	Relaxation of vascular associated smooth muscle	IEA
GO:0061049	Process	Cell growth involved in cardiac muscle cell development	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	IMP	16990611
GO:0098868	Process	Bone growth	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IDA	25447536
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IDA	25447536
GO:2000224	Process	Regulation of testosterone biosynthetic process	IEA

MIM	HGNC	e!Ensembl
176894	9414	ENSG00000185532

Q13976

Protein name

cGMP-dependent protein kinase 1 (cGK 1) (cGK1) (EC 2.7.11.12) (cGMP-dependent protein kinase I) (cGKI)

Protein function

Serine/threonine protein kinase that acts as a key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 p

PDB

1ZXA , 3NMD , 3OCP , 3OD0 , 3OGJ , 4KU7 , 4KU8 , 4QX5 , 4QXK , 4R4L , 4R4M , 4Z07 , 5J48 , 5JAX , 5JD7 , 5L0N , 6BDL , 6BG2 , 6C0T , 7LV3 , 7MBJ , 7SSB , 7T4T , 7T4U , 7T4V , 7T4W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16808	PKcGMP_CC	10 → 44	Coiled-coil N-terminus of cGMP-dependent protein kinase	Coiled-coil
PF00027	cNMP_binding	121 → 204	Cyclic nucleotide-binding domain	Domain
PF00027	cNMP_binding	239 → 327	Cyclic nucleotide-binding domain	Domain
PF00069	Pkinase	360 → 619	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Primarily expressed in lung and placenta. {ECO:0000269|PubMed:9192852}.

Sequence

MSELEEDFAKILMLKEERIKELEKRLSEKEEEIQELKRKLHKCQSVLPVPSTHIGPRTTR
AQGISAEPQTYRSFHDLRQAFRKFTKSERSKDLIKEAILDNDFMKNLELSQIQEIVDCMY
PVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTAT
VKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSLPEEILSKLADVLEET
HYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDV
RTANVIAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDF
NIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDF
IVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGI
IYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISAD
YWSLGILMYELLTGSPPFSGPDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPS
ERLGNLKNGVKDIQKHKWFEGFNWEGLRKGTLTPPIIPSVASPTDTSNFDSFPEDNDEPP
PDDNSGWDIDF

Sequence length

671

Interactions

View interactions

	KEGG		Reactome
	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction Gap junction Platelet activation Circadian entrainment Thermogenesis Long-term depression Olfactory transduction Regulation of lipolysis in adipocytes Salivary secretion		Rap1 signalling cGMP effects

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aortic aneurysm, familial thoracic 8	Pathogenic	rs397515330	RCV000055667	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Pathogenic	rs397515330	RCV002311000	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (51)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROPARESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARYNGEAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT LARYNGEAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRKG1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (96)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	20182759	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	28363452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	23910461, 30087447, 32506052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
AORTIC ANEURYSM, FAMILIAL THORACIC 8	Aortic Aneurysm	UNIPROT_DG	23910461		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 8	Aortic Aneurysm	CLINVAR_DG	23910461, 27442293		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 8	Aortic Aneurysm	GENOMICS_ENGLAND_DG	27442293		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AORTIC ANEURYSM, FAMILIAL THORACIC 8	Aortic Aneurysm	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	23910461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	23910461, 30577811, 32506052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	27442293, 27879251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	23910461, 30577811, 30871887, 32506052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	36007983	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	24832006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	34101054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21907864		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	21907864		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	33628342	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	12622406		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	20732627		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29707780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28099939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	12571245, 21777390, 22791569, 23418348, 35564499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	40304310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35720901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35782114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31337673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29546540, 31337673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21600289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15355913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	26713600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	26713600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20348951, 26713600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	35092149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37935955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28663157, 30773997, 31337673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	30577811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34337010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enzymopathy	Enzymopathy	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	BEFREE	29503620, 29604206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	36614110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32756534	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	36007983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	23910461, 27442293, 9606187		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	ORPHANET_DG	23910461		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GATA2 Deficiency	Gata2 deficiency	Pubtator	33741394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	24060898, 30700906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	39286286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30871887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24756636, 28446801, 28716990, 30104414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12107174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	38492610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31423931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	33196098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	25338677, 35114420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	25338677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26713600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15355913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	28663157		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26971999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASDB_DG	23793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	23793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32546235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	15231849	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	15917860, 28585197		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20371672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	37935955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	33503999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 28991256, 30285260		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary syndrome	Pubtator	26551667	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33660438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29311148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	23910461, 30871887, 36007983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	35891400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35782114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRKG1 (protein kinase cGMP-dependent 1)