AGTR2 (angiotensin II receptor type 2)

Gene

• Entrez ID: 186
• Gene name: Angiotensin II receptor type 2
• Gene symbol: AGTR2
• Synonyms (NCBI Gene): AT2, ATGR2, MRX88
• Chromosome: X
• Chromosome location: Xq23
• Summary: The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus and in neonates, but scantily in adult tissues, exce

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019253	hsa-miR-148b-3p	Microarray	17612493
MIRT021590	hsa-miR-142-3p	Microarray	17612493
MIRT022332	hsa-miR-124-3p	Microarray	18668037
MIRT528494	hsa-miR-548p	PAR-CLIP	22012620
MIRT528493	hsa-miR-378j	PAR-CLIP	22012620
MIRT528492	hsa-miR-6839-5p	PAR-CLIP	22012620
MIRT528491	hsa-miR-1468-3p	PAR-CLIP	22012620
MIRT528490	hsa-miR-1299	PAR-CLIP	22012620
MIRT528489	hsa-miR-516b-5p	PAR-CLIP	22012620
MIRT528488	hsa-miR-4782-5p	PAR-CLIP	22012620
MIRT528486	hsa-miR-5706	PAR-CLIP	22012620
MIRT528494	hsa-miR-548p	PAR-CLIP	22012620
MIRT528493	hsa-miR-378j	PAR-CLIP	22012620
MIRT528492	hsa-miR-6839-5p	PAR-CLIP	22012620
MIRT528491	hsa-miR-1468-3p	PAR-CLIP	22012620
MIRT528490	hsa-miR-1299	PAR-CLIP	22012620
MIRT528489	hsa-miR-516b-5p	PAR-CLIP	22012620
MIRT528488	hsa-miR-4782-5p	PAR-CLIP	22012620
MIRT528486	hsa-miR-5706	PAR-CLIP	22012620
MIRT773159	hsa-miR-1265	CLIP-seq
MIRT773160	hsa-miR-1912	CLIP-seq
MIRT773161	hsa-miR-3117-3p	CLIP-seq
MIRT773162	hsa-miR-3169	CLIP-seq
MIRT773163	hsa-miR-3180-5p	CLIP-seq
MIRT773164	hsa-miR-3609	CLIP-seq
MIRT773165	hsa-miR-4261	CLIP-seq
MIRT773166	hsa-miR-4446-3p	CLIP-seq
MIRT773167	hsa-miR-4492	CLIP-seq
MIRT773168	hsa-miR-4496	CLIP-seq
MIRT773169	hsa-miR-4498	CLIP-seq
MIRT773170	hsa-miR-4759	CLIP-seq
MIRT773171	hsa-miR-4764-5p	CLIP-seq
MIRT773172	hsa-miR-4789-5p	CLIP-seq
MIRT773173	hsa-miR-4795-3p	CLIP-seq
MIRT773174	hsa-miR-4796-3p	CLIP-seq
MIRT773175	hsa-miR-490-3p	CLIP-seq
MIRT773176	hsa-miR-520a-5p	CLIP-seq
MIRT773177	hsa-miR-525-5p	CLIP-seq
MIRT773178	hsa-miR-548ah	CLIP-seq
MIRT773179	hsa-miR-548t	CLIP-seq
MIRT773180	hsa-miR-649	CLIP-seq
MIRT773181	hsa-miR-651	CLIP-seq
MIRT773182	hsa-miR-762	CLIP-seq
MIRT773160	hsa-miR-1912	CLIP-seq
MIRT1928229	hsa-miR-3074-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001974	Process	Blood vessel remodeling	TAS	17159080
GO:0001991	Process	Regulation of systemic arterial blood pressure by circulatory renin-angiotensin	IEA
GO:0001991	Process	Regulation of systemic arterial blood pressure by circulatory renin-angiotensin	ISS
GO:0002033	Process	Angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure	IEA
GO:0002035	Process	Brain renin-angiotensin system	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004945	Function	Angiotensin type II receptor activity	IBA
GO:0004945	Function	Angiotensin type II receptor activity	IDA	28379944, 29967536, 31899086, 32669569
GO:0004945	Function	Angiotensin type II receptor activity	IEA
GO:0004945	Function	Angiotensin type II receptor activity	IPI	10406457
GO:0004945	Function	Angiotensin type II receptor activity	TAS	8502225
GO:0005515	Function	Protein binding	IPI	10406457, 18344519, 23597562
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IC	10406457
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7945336
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	10406457
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	7945336
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IC	10406457
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007199	Process	G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger	IEA
GO:0007199	Process	G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger	ISS	17000928
GO:0007420	Process	Brain development	NAS	12089445
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	TAS	7477266
GO:0010459	Process	Negative regulation of heart rate	IEA
GO:0010459	Process	Negative regulation of heart rate	ISS
GO:0016020	Component	Membrane	IEA
GO:0030308	Process	Negative regulation of cell growth	TAS	17159080
GO:0035566	Process	Regulation of metanephros size	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0038060	Process	Nitric oxide-cGMP-mediated signaling	IEA
GO:0038060	Process	Nitric oxide-cGMP-mediated signaling	ISS	17000928
GO:0038060	Process	Nitric oxide-cGMP-mediated signaling	TAS	17159080
GO:0038166	Process	Angiotensin-activated signaling pathway	IEA
GO:0042311	Process	Vasodilation	IDA	15117835, 17159079
GO:0042311	Process	Vasodilation	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	NAS	15710780
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048019	Function	Receptor antagonist activity	TAS	17159079
GO:0051387	Process	Negative regulation of neurotrophin TRK receptor signaling pathway	IMP	10406457
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0072300	Process	Positive regulation of metanephric glomerulus development	IEA
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IMP	10406457

Other IDs

• MIM: 300034
• HGNC: 338
• e!Ensembl: ENSG00000180772

Protein

• UniProt ID: P50052
• Protein name: Type-2 angiotensin II receptor (Angiotensin II type-2 receptor) (AT2 receptor)
• Protein function: Receptor for angiotensin II, a vasoconstricting peptide (PubMed:28379944, PubMed:29967536, PubMed:31899086, PubMed:8185599). Signals primarily via a non-canonical G-protein- and beta-arrestin independent pathways (PubMed:28379944). Cooperates wi
• PDB: 5UNF, 5UNG, 5UNH, 5XJM, 6JOD, 7C6A, 7JNI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	61 → 318	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. {ECO:0000269|PubMed:12089445}.
• Sequence:

  MKGNSTLATTSKNITSGLHFGLVNISGNNESTLNCSQKPSDKHLDAIPILYYIIFVIGFL
  VNIVVVTLFCCQKGPKKVSSIYIFNLAVADLLLLATLPLWATYYSYRYDWLFGPVMCKVF
  GSFLTLNMFASIFFITCMSVDRYQSVIYPFLSQRRNPWQASYIVPLVWCMACLSSLPTFY
  FRDVRTIEYLGVNACIMAFPPEKYAQWSAGIALMKNILGFIIPLIFIATCYFGIRKHLLK
  TNSYGKNRITRDQVLKMAAAVVLAFIICWLPFHVLTFLDALAWMGVINSCEVIAVIDLAL
  PFAILLGFTNSCVNPFLYCFVGNRFQQKLRSVFRVPITWLQGKRESMSCRKSSSLREMET
  FVS

• Sequence length: 363

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AGTR2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, LOBULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, X-linked 88	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASE ASSOCIATED WITH CYSTIC FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR SYSTEM INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20731660		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	9761377		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	LHGDN	18296263		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	9863625		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	9761377		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37813091	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25756513		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23892268		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23892268		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29987108		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	LHGDN	17944121		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17336987, 27168137		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29038523	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31062639		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	25037873		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17336987, 27168137		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	16043935, 32383373	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30109601		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28599664		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11819093, 25682288		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	11819093		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	LHGDN	11819093		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	10024874, 16133060, 17515833, 19781541, 24995698		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	8605119		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28599664		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16140932, 27769520		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	31570446		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	12453540	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	35618744	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21163866	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12453540, 19861351, 27062416, 28108279, 28792482, 8773261		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	12453540, 28792482	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	27062416		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27285537		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18347611, 28671997, 29068929, 30076526, 30822121		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30076526		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31321575		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30031758		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11056094, 15569271, 28943106		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	25172908		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18049304		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12574792, 15618059, 17336987, 18049304		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	12925562		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18049304		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	34065198	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	34065198	Stimulate	★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	9761377		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26417704, 29937318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	29038523		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27639288		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37813091	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27639288		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27168137, 30190172		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27168137, 29074590, 30190172, 31470003		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20592051	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20592051, 36360309	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16598200, 28361992		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23259529, 29358691, 30130595		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	CTD_human_DG	15587404, 16025228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32370637	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20631980, 26619914, 27798458, 30190172		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19524223, 31759042		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22269148		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	18363708		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	14627490, 16550310, 17707359, 25099490, 9544872		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	14627490, 31337952	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial vesicoureteral reflux	Vesicoureteral Reflux	BEFREE	12187255		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	8954043		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	12677092		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	19194560	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	12495295		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29218410		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	40428340	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	LHGDN	12133421		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15569271, 28943106		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	18059164		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	24971613		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31520674		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	22162314, 31470003		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11153734, 12453540, 12924622, 14627490, 19274051, 22869520, 25143330, 38573093	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	10981059, 11153734, 12924622, 14627490, 15123577, 15640279, 16550310, 17261659, 18307726, 19023273, 19274051, 22869520, 23406015, 25143330, 30187136, 30863432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	12911547, 12925562, 17707359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	15710752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	29218410		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21163866		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21163866		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	21163866	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	12453540, 21163866, 38573093, 40428340	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31607942		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17630322		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	15458433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	19194560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	31792796		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12089445, 14598163, 22269148		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	12746399, 14598163		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23871722	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28671997, 30822121		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15756705, 27798458, 28694144		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	12453540, 15123577, 17944121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	20467270, 21163866, 23176211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	20467270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leiomyosarcoma	Leiomyosarcoma	BEFREE	28253719		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24391821		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	15914614		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16140932		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30621494		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11819093, 25682288		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16140932, 27769520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25756513		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24658029, 29568400		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	18059164		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28599664		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11819093, 30564297		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11819093		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	27903988		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27639288		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12089445, 14598163, 22269148		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked	Mental retardation	BEFREE	12089445		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	12089445, 16283672		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	12089445		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	14598163		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 88 (disorder)	Mental retardation	GENOMICS_ENGLAND_DG	23871722		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINGEN_DG	12089445, 18335189, 19501643, 22269148, 23871722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19023273		★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	18363708		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	BEFREE	16133060, 24995698		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12453540, 17336987, 18347611, 21163865, 22038231, 29068929, 30187136		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	12453540	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10450835, 16140932, 21067843, 24391821, 25682288, 25756513		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31287367		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30086116, 31094778		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	BEFREE	8586443, 9099917		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25756513		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25756513		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	LHGDN	18296263		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	9761377		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19524223, 24971613, 29971102		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	16598200		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	8586443, 9099917		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27639288		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	14598163		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24658029, 29568400		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24658029	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	11153734, 34796008	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	BEFREE	29937318		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34051791	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30845246		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29038523		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	9713444		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	37511534	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	24473559	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	16001071		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	22269148		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome 1 Autosomal Recessive	Sick sinus syndrome	Pubtator	16043935	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30564297		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	18059164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	18059164	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synovitis	Synovitis	BEFREE	29038523		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	29038523	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	16133060		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34898568	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	8954043		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	12453540	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	40428340	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	10233502, 12187255, 24995698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	10233502		★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations