GNB3 (G protein subunit beta 3)

Gene

• Entrez ID: 2784
• Gene name: G protein subunit beta 3
• Gene symbol: GNB3
• Synonyms (NCBI Gene): CSNB1H, HG2D
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene enc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140263599	C>T	Pathogenic	Missense variant, coding sequence variant
rs879253774	AGA>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029954	hsa-miR-26b-5p	Microarray	19088304
MIRT1023943	hsa-miR-204	CLIP-seq
MIRT1023944	hsa-miR-211	CLIP-seq
MIRT1023945	hsa-miR-2355-3p	CLIP-seq
MIRT1023946	hsa-miR-3150a-3p	CLIP-seq
MIRT1023947	hsa-miR-3175	CLIP-seq
MIRT1023948	hsa-miR-3184	CLIP-seq
MIRT1023949	hsa-miR-323b-5p	CLIP-seq
MIRT1023950	hsa-miR-3925-3p	CLIP-seq
MIRT1023951	hsa-miR-423-5p	CLIP-seq
MIRT1023952	hsa-miR-4436b-5p	CLIP-seq
MIRT1023953	hsa-miR-4446-3p	CLIP-seq
MIRT1023954	hsa-miR-4492	CLIP-seq
MIRT1023955	hsa-miR-4498	CLIP-seq
MIRT1023956	hsa-miR-4505	CLIP-seq
MIRT1023957	hsa-miR-4667-5p	CLIP-seq
MIRT1023958	hsa-miR-4688	CLIP-seq
MIRT1023959	hsa-miR-4700-5p	CLIP-seq
MIRT1023960	hsa-miR-4728-5p	CLIP-seq
MIRT1023961	hsa-miR-4731-5p	CLIP-seq
MIRT1023962	hsa-miR-4736	CLIP-seq
MIRT1023963	hsa-miR-4755-5p	CLIP-seq
MIRT1023964	hsa-miR-486-3p	CLIP-seq
MIRT1023965	hsa-miR-515-5p	CLIP-seq
MIRT1023966	hsa-miR-623	CLIP-seq
MIRT1023967	hsa-miR-657	CLIP-seq
MIRT1023968	hsa-miR-676	CLIP-seq
MIRT1023969	hsa-miR-762	CLIP-seq
MIRT1023970	hsa-miR-766	CLIP-seq
MIRT1023971	hsa-miR-939	CLIP-seq
MIRT2681714	hsa-miR-1273f	CLIP-seq
MIRT2681715	hsa-miR-143	CLIP-seq
MIRT2681716	hsa-miR-3140-5p	CLIP-seq
MIRT2681717	hsa-miR-3622a-3p	CLIP-seq
MIRT2681718	hsa-miR-3622b-3p	CLIP-seq
MIRT2681719	hsa-miR-3669	CLIP-seq
MIRT2681720	hsa-miR-3925-5p	CLIP-seq
MIRT2681721	hsa-miR-4708-5p	CLIP-seq
MIRT2681722	hsa-miR-4770	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	TAS	9425898
GO:0005515	Function	Protein binding	IPI	23773523, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006884	Process	Cell volume homeostasis	IGI	29206867
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	2107550
GO:0008217	Process	Regulation of blood pressure	TAS	9425898
GO:0010468	Process	Regulation of gene expression	IGI	29206867
GO:0010906	Process	Regulation of glucose metabolic process	IGI	29206867
GO:0030159	Function	Signaling receptor complex adaptor activity	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030507	Function	Spectrin binding	IEA
GO:0032350	Process	Regulation of hormone metabolic process	IGI	29206867
GO:0044297	Component	Cell body	IEA
GO:0045598	Process	Regulation of fat cell differentiation	IGI	29206867
GO:0051020	Function	GTPase binding	IPI	19255495
GO:0060259	Process	Regulation of feeding behavior	IGI	29206867
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090181	Process	Regulation of cholesterol metabolic process	IGI	29206867
GO:0090207	Process	Regulation of triglyceride metabolic process	IGI	29206867
GO:0090325	Process	Regulation of locomotion involved in locomotory behavior	IGI	29206867
GO:1903725	Process	Regulation of phospholipid metabolic process	IGI	29206867

Other IDs

• MIM: 139130
• HGNC: 4400
• e!Ensembl: ENSG00000111664

Protein

• UniProt ID: P16520
• Protein name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 (Transducin beta chain 3)
• Protein function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G prote
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	45 → 83	WD domain, G-beta repeat	Repeat
  PF00400	WD40	86 → 125	WD domain, G-beta repeat	Repeat
  PF00400	WD40	133 → 170	WD domain, G-beta repeat	Repeat
  PF00400	WD40	174 → 212	WD domain, G-beta repeat	Repeat
  PF00400	WD40	216 → 254	WD domain, G-beta repeat	Repeat
  PF00400	WD40	259 → 298	WD domain, G-beta repeat	Repeat
  PF00400	WD40	302 → 340	WD domain, G-beta repeat	Repeat

• Sequence:

  MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYA
  MHWATDSKLLVSASQDGKLIVWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNM
  CSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTSSGDTTCALWDIETGQQKTVF
  VGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
  ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSM
  KSERVGILSGHDNRVSCLGVTADGMAVATGSWDSFLKIWN

• Sequence length: 340

Pathways

KEGG:

Ras signaling pathway
Chemokine signaling pathway
Hormone signaling
PI3K-Akt signaling pathway
Apelin signaling pathway
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Taste transduction
Relaxin signaling pathway
Morphine addiction
Alcoholism
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

Reactome:

Activation of G protein gated Potassium channels
Glucagon signaling in metabolic regulation
G-protein activation
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
ADP signalling through P2Y purinoceptor 12
G beta:gamma signalling through PI3Kgamma
Prostacyclin signalling through prostacyclin receptor
Adrenaline,noradrenaline inhibits insulin secretion
Ca2+ pathway
G alpha (q) signalling events
G alpha (12/13) signalling events
G beta:gamma signalling through PLC beta
G alpha (s) signalling events
ADP signalling through P2Y purinoceptor 1
G alpha (i) signalling events
G alpha (z) signalling events
Glucagon-type ligand receptors
Thromboxane signalling through TP receptor
Vasopressin regulates renal water homeostasis via Aquaporins
Thrombin signalling through proteinase activated receptors (PARs)
Presynaptic function of Kainate receptors
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
G beta:gamma signalling through BTK
G beta:gamma signalling through CDC42
Extra-nuclear estrogen signaling
ADORA2B mediated anti-inflammatory cytokines production
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital stationary night blindness 1H	Pathogenic	rs879253773, rs879253774	RCV000234969 RCV000234964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STATIONARY NIGHT BLINDNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential hypertension, genetic	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GNB3 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GNB3-related condition	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, essential, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME	Ablepharon macrostomia syndrome	BEFREE	20570668		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	12818251		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16178055		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	9743540		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	20096003	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	29148080	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	12052841, 12424427, 17299380, 18551043, 25463071		★☆☆☆☆ Found in Text Mining only
Ataxia with vitamin E deficiency	Friedreich Ataxia	BEFREE	30101547		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12052841, 12424427, 17299380, 18551043, 25463071		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	15389246		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19968497		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20814328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar II disorder	Bipolar Disorder	BEFREE	26856249		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	17663734	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15019160, 17978878, 22034052		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	22034052		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27170308	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26915373		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33860048	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	37894940	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	12476328		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	15033462, 16908025, 20539277, 20577224, 23595158		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28067546, 36077181	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	LHGDN	12624279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	12624279		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17189961, 23595158, 23799054, 28067546		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	28067546	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16019105		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11684796, 12000471		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19056482		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	14692527		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	20833658		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	18855531		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25964245	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35373932	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	18855531		★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	9743540		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	9743540		★☆☆☆☆ Found in Text Mining only
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	19968497		★☆☆☆☆ Found in Text Mining only
Congenital stationary night blindness	Congenital stationary night blindness	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	20185488, 25306451		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10704626, 11116112, 12618278, 20096003, 25463071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	16141801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	10704626, 11116112, 12618278, 16908025, 20096003, 25463071, 28067546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	12618278, 17958314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	16141801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	17663734, 20096003, 28067546	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	10704626, 11116112, 12052841, 12618278, 20096003, 25463071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	31137020		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	12075862, 15057736, 16897596, 21709600, 29148080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	14604448, 29148080, 31185929	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	15057736, 16897596, 21709600, 24882179, 25037115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	LHGDN	17621167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	11121369, 17161225, 18656447, 25093805		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10978395, 11121369, 15033462, 17161225, 18656447, 25093805		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19597293	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19597293	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10200987	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19597293		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10200987, 10970984, 11121369, 12165748, 12511541, 17161225, 19594364, 21565989, 28035522, 28602143, 29206867, 30101547		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	12511541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	15855877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	10200987	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	19597293	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Polyneuropathies	Diabetic polyneuropathy	BEFREE	19597293		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	22985949		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	22985949	Associate	★☆☆☆☆ Found in Text Mining only
Dyspepsia	Dysphasia	Pubtator	18511740, 19174788	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	18855531		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	12576843, 18783529, 20629643, 26821322		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	LHGDN	12576843		★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	22985949, 24531084, 30101547	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10334807, 10526907, 10642300, 11008983, 11230366, 11748488, 12011775, 12113397, 12530935, 12624609, 12730030, 14557282, 15042113, 15200440, 15614196, 15996174, 16314202, 16497648, 16600156, 17066084, 17278960, 17785925, 19811352, 21473734, 22714918, 23691120, 24346074, 26335431, 26712426, 27028457, 28067546, 28540932, 9856980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	Pubtator	12109775, 15200440, 19811352, 21473734, 21532295, 23691120, 26712426, 28067546, 32555714, 35489051	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19968497		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	29148080	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	19174793, 29148080		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	22855291	Associate	★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	27616475	Associate	★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	BEFREE	29550988		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	18855531		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20145952		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20145952		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	15200440	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20185488, 25306451		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	25306451, 30978507	Associate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	15369653		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	LHGDN	15369653		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	20096003	Associate	★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	28212552		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	16713434, 17972053		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	24722130	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	10200987, 11688759, 12109775, 15090636, 16707857, 18248681, 18413224, 19148102, 20944660, 21198262, 21473734, 21532295, 23691120, 24722130, 28067546, 29848945, 29853161, 38126445, 38573093	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	24531084	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10334807, 10477144, 10701813, 10856280, 10970984, 11121369, 11230982, 11244012, 11684796, 11688759, 11927836, 12075862, 12109775, 12384823, 12566975, 12624279, 12730030, 12924618, 13679998, 14557282, 14647404, 15033462, 15037876, 15076154, 15226674, 15531240, 15660499, 15996174, 16314202, 16487269, 16600156, 16600389, 17161225, 17299380, 18192837, 18248681, 19597293, 20539277, 20577224, 21198262, 21364877, 21709600, 22534794, 23324949, 23339167, 23595158, 23691120, 23799054, 24477587, 25093805, 25463071, 26821322, 29853161, 9774364, 9856980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	12460053, 12891286, 15226674, 15678704, 15831363, 16424860, 17044851, 17341998, 18849222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	15961981, 16141801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	11768721	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	16707857		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	16707857	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	15200440		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	12109775, 15090636, 18413224, 24722130	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	18511740, 19309415, 22855291, 25037115	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	19174793, 20337945, 21559741, 24876757, 25037115		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	15920455		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	18855531		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10978395		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	15287194	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	11684796, 12000471		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	10642300, 12011775, 12566975, 15614196		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	11768721, 12891286, 15678704, 16424860		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	20833658		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28212552		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28212552	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27170308	Inhibit	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	9743540		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	14647404, 17066254, 17943025, 18325652, 22222462, 24882179, 25451402, 28225778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	17943025, 18325652, 20826553, 22222462, 24882179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	15019160, 17978878, 22034052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22608746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21198262		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25536621		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15019160, 17978878		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15057736, 16897596, 21709600, 29148080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	15057736, 16897596, 21709600, 24882179, 25037115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15033462, 15869758, 15978856, 16284746, 16600389, 16908025, 20170352, 21979884, 29206867		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	20488209		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	11586049, 11992559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	11586049, 11992559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	LHGDN	14512207		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12270649		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10334807, 10704626, 11116112, 11230982, 11927836, 16139102, 16908025, 17189961, 18551043, 25463071		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18551043		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	20096003, 22408428, 36077181	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16133558		★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	26368928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	ORPHANET_DG	27063057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary, type 1	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Night Blindness, Congenital Stationary, Type 1A	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H	Night Blindness, Congenital Stationary	UNIPROT_DG	27063057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H	Night Blindness, Congenital Stationary	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10523525, 11121369, 11927836, 12109775, 12566975, 12624279, 12668921, 12730030, 13679998, 14557282, 15033462, 15226674, 15531240, 16487269, 16493638, 16707857, 17161225, 17299380, 18192837, 18793692, 19420911, 19687782, 20577224, 23980137, 24477587, 24827746, 25093805, 25280441, 25463071, 29206867, 29469022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	10523525, 12109775, 15090636, 16707857, 22408428, 24827746, 27515755, 29469022, 29937877, 35373932	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	15961981, 16141801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33386701	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	23980137, 29206867		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	12052841		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	15287194	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	20170352		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	19597293	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	19597293		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22608746		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34796008, 38126445	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	28212552	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	27281386, 9743540		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	34187205	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19811352		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16139171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16139171, 17521439		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16139171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	14744475		★☆☆☆☆ Found in Text Mining only
Separation Anxiety Disorder	Separation Anxiety Disorder	BEFREE	28499211		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	18855531		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18990763		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	27170308		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21198262		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21198262	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	16133558		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	29901159	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16178055, 19772422, 25536621		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	19772422		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	17136758		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16178055, 17136758		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	19772422		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	18855531		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	16133558		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	17066254, 17943025, 18325652, 22222462, 24882179, 25451402, 28225778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	17943025, 18325652, 20826553, 22222462, 24882179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	19811352	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	16783490		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	21532295	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	LHGDN	15337465		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	27988909		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	15337465, 22558067		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	18855531		★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	23691120		★☆☆☆☆ Found in Text Mining only
X-Linked Csnb	Congenital stationary night blindness, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only