AGTR1 (angiotensin II receptor type 1)

Gene

• Entrez ID: 185
• Gene name: Angiotensin II receptor type 1
• Gene symbol: AGTR1
• Synonyms (NCBI Gene): AG2S, AGTR1B, AT1, AT1AR, AT1B, AT1BR, AT1R, AT2R1, ATR1, HAT1R
• Chromosome: 3
• Chromosome location: 3q24
• Summary: Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene enc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5186	A>C	Risk-factor, benign	3 prime UTR variant
rs104893677	C>T	Pathogenic	Missense variant, coding sequence variant
rs387906577	->T	Pathogenic	Coding sequence variant, frameshift variant
rs397514687	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay	17668390
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay	17668390
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay	17668390
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay	19177201
MIRT002006	hsa-miR-155-5p	Review	20026422
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Real time PCR	17588946
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Real time PCR	17588946
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Real time PCR	17588946
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Real time PCR	17588946
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Real time PCR	17588946
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Real time PCR	17588946
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	20735984
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR, Western blot	16675453
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR, Western blot	16675453
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21310411
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21310411
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21310411
MIRT002006	hsa-miR-155-5p	Western blot	21310411
MIRT002006	hsa-miR-155-5p	Reporter assay	17588946
MIRT002006	hsa-miR-155-5p	Reporter assay	17668390
MIRT002006	hsa-miR-155-5p	Reporter assay	16675453
MIRT023107	hsa-miR-124-3p	Microarray	18668037
MIRT030131	hsa-miR-26b-5p	Microarray	19088304
MIRT002006	hsa-miR-155-5p	Luciferase reporter assay	22664914
MIRT731253	hsa-miR-410-3p	and AsPC-1"	25646808
MIRT731253	hsa-miR-410-3p	and AsPC-1"	25646808
MIRT731253	hsa-miR-410-3p	and AsPC-1"	25646808
MIRT731253	hsa-miR-410-3p	and AsPC-1"	25646808
MIRT733624	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28073349
MIRT733624	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28073349
MIRT733063	hsa-miR-155-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32896760
MIRT733063	hsa-miR-155-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32896760
MIRT733624	hsa-miR-34a-5p	Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	33650673
MIRT773122	hsa-miR-1	CLIP-seq
MIRT773123	hsa-miR-1321	CLIP-seq
MIRT773124	hsa-miR-206	CLIP-seq
MIRT773125	hsa-miR-2117	CLIP-seq
MIRT773126	hsa-miR-2467-3p	CLIP-seq
MIRT773127	hsa-miR-3125	CLIP-seq
MIRT773128	hsa-miR-3158-5p	CLIP-seq
MIRT773129	hsa-miR-3162-5p	CLIP-seq
MIRT773130	hsa-miR-3678-3p	CLIP-seq
MIRT773131	hsa-miR-3916	CLIP-seq
MIRT773132	hsa-miR-4268	CLIP-seq
MIRT773133	hsa-miR-4273	CLIP-seq
MIRT773134	hsa-miR-4448	CLIP-seq
MIRT773135	hsa-miR-4690-5p	CLIP-seq
MIRT773136	hsa-miR-4739	CLIP-seq
MIRT773137	hsa-miR-4753-3p	CLIP-seq
MIRT773138	hsa-miR-4756-5p	CLIP-seq
MIRT773139	hsa-miR-613	CLIP-seq
MIRT773140	hsa-miR-302a	CLIP-seq
MIRT773141	hsa-miR-302b	CLIP-seq
MIRT773142	hsa-miR-302c	CLIP-seq
MIRT773143	hsa-miR-302d	CLIP-seq
MIRT773144	hsa-miR-302e	CLIP-seq
MIRT773145	hsa-miR-3606	CLIP-seq
MIRT773146	hsa-miR-3616-5p	CLIP-seq
MIRT773147	hsa-miR-3647-5p	CLIP-seq
MIRT773148	hsa-miR-372	CLIP-seq
MIRT773149	hsa-miR-373	CLIP-seq
MIRT773150	hsa-miR-4795-5p	CLIP-seq
MIRT773151	hsa-miR-512-3p	CLIP-seq
MIRT773152	hsa-miR-520a-3p	CLIP-seq
MIRT773153	hsa-miR-520b	CLIP-seq
MIRT773154	hsa-miR-520c-3p	CLIP-seq
MIRT773155	hsa-miR-520d-3p	CLIP-seq
MIRT773156	hsa-miR-520e	CLIP-seq
MIRT773157	hsa-miR-573	CLIP-seq
MIRT773158	hsa-miR-579	CLIP-seq
MIRT773123	hsa-miR-1321	CLIP-seq
MIRT773129	hsa-miR-3162-5p	CLIP-seq
MIRT773135	hsa-miR-4690-5p	CLIP-seq
MIRT773136	hsa-miR-4739	CLIP-seq
MIRT773138	hsa-miR-4756-5p	CLIP-seq
MIRT1928223	hsa-miR-3944-5p	CLIP-seq
MIRT1928224	hsa-miR-431	CLIP-seq
MIRT1928225	hsa-miR-4684-3p	CLIP-seq
MIRT1928226	hsa-miR-511	CLIP-seq
MIRT1928227	hsa-miR-518a-5p	CLIP-seq
MIRT1928228	hsa-miR-527	CLIP-seq
MIRT2471548	hsa-miR-1299	CLIP-seq
MIRT2471549	hsa-miR-1976	CLIP-seq
MIRT2471550	hsa-miR-2116	CLIP-seq
MIRT2471551	hsa-miR-3120-5p	CLIP-seq
MIRT2471552	hsa-miR-3654	CLIP-seq
MIRT1928223	hsa-miR-3944-5p	CLIP-seq
MIRT2471553	hsa-miR-3978	CLIP-seq
MIRT2471554	hsa-miR-4261	CLIP-seq
MIRT773132	hsa-miR-4268	CLIP-seq
MIRT773133	hsa-miR-4273	CLIP-seq
MIRT773134	hsa-miR-4448	CLIP-seq
MIRT2471555	hsa-miR-4520a-3p	CLIP-seq
MIRT2471556	hsa-miR-4638-3p	CLIP-seq
MIRT2471557	hsa-miR-4677-5p	CLIP-seq
MIRT2471558	hsa-miR-4680-5p	CLIP-seq
MIRT2471559	hsa-miR-4738-3p	CLIP-seq
MIRT2471560	hsa-miR-764	CLIP-seq
MIRT2471561	hsa-miR-875-3p	CLIP-seq
MIRT2471562	hsa-miR-938	CLIP-seq
MIRT2471548	hsa-miR-1299	CLIP-seq
MIRT2471549	hsa-miR-1976	CLIP-seq
MIRT2471550	hsa-miR-2116	CLIP-seq
MIRT2674753	hsa-miR-3119	CLIP-seq
MIRT2471551	hsa-miR-3120-5p	CLIP-seq
MIRT2674754	hsa-miR-3140-3p	CLIP-seq
MIRT2471552	hsa-miR-3654	CLIP-seq
MIRT2674755	hsa-miR-375	CLIP-seq
MIRT1928223	hsa-miR-3944-5p	CLIP-seq
MIRT2471553	hsa-miR-3978	CLIP-seq
MIRT2471554	hsa-miR-4261	CLIP-seq
MIRT773132	hsa-miR-4268	CLIP-seq
MIRT773133	hsa-miR-4273	CLIP-seq
MIRT1928224	hsa-miR-431	CLIP-seq
MIRT773134	hsa-miR-4448	CLIP-seq
MIRT2674756	hsa-miR-4474-3p	CLIP-seq
MIRT2471555	hsa-miR-4520a-3p	CLIP-seq
MIRT2471556	hsa-miR-4638-3p	CLIP-seq
MIRT2471557	hsa-miR-4677-5p	CLIP-seq
MIRT2471558	hsa-miR-4680-5p	CLIP-seq
MIRT1928225	hsa-miR-4684-3p	CLIP-seq
MIRT2674757	hsa-miR-4698	CLIP-seq
MIRT2471559	hsa-miR-4738-3p	CLIP-seq
MIRT1928226	hsa-miR-511	CLIP-seq
MIRT1928227	hsa-miR-518a-5p	CLIP-seq
MIRT1928228	hsa-miR-527	CLIP-seq
MIRT2471560	hsa-miR-764	CLIP-seq
MIRT2471561	hsa-miR-875-3p	CLIP-seq
MIRT2674758	hsa-miR-889	CLIP-seq
MIRT2471562	hsa-miR-938	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETV4	Activation	8206588
HIF1A	Activation	15718424
SND1	Activation	18603592
SP1	Activation	22282354
SP1	Repression	22282354
SP1	Unknown	11072083;15507319
SP3	Unknown	15507319

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	17159080
GO:0001596	Function	Angiotensin type I receptor activity	IBA
GO:0001596	Function	Angiotensin type I receptor activity	IDA	8987975, 10993080, 15611106, 25913193, 26420482, 30639100, 32079768
GO:0001596	Function	Angiotensin type I receptor activity	IPI	1378723
GO:0001822	Process	Kidney development	IMP	16116425
GO:0002018	Process	Renin-angiotensin regulation of aldosterone production	NAS	17159080
GO:0002034	Process	Maintenance of blood vessel diameter homeostasis by renin-angiotensin	IC	10993080
GO:0002034	Process	Maintenance of blood vessel diameter homeostasis by renin-angiotensin	IDA	25913193, 26420482
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IC	1378723
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004945	Function	Angiotensin type II receptor activity	IDA	1567413
GO:0004945	Function	Angiotensin type II receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	1378723, 15611106, 19023134, 21412239, 22935142, 23597562, 26460884, 28298427
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IC	1378723
GO:0005886	Component	Plasma membrane	IDA	19023134, 33713620
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IBA
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	IDA	1378723
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	1567413
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	NAS	17159080
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	1378723
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IBA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	1567413
GO:0007266	Process	Rho protein signal transduction	IDA	15611106
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IMP	18971559
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8135787
GO:0019229	Process	Regulation of vasoconstriction	IC	1378723
GO:0019229	Process	Regulation of vasoconstriction	IDA	15117835
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0019229	Process	Regulation of vasoconstriction	NAS	17159080
GO:0019722	Process	Calcium-mediated signaling	IDA	1567413
GO:0031711	Function	Bradykinin receptor binding	IPI	10993080
GO:0034374	Process	Low-density lipoprotein particle remodeling	NAS	17069818
GO:0035813	Process	Regulation of renal sodium excretion	NAS	17159080
GO:0038166	Process	Angiotensin-activated signaling pathway	IDA	1567413
GO:0038166	Process	Angiotensin-activated signaling pathway	IMP	18971559
GO:0042127	Process	Regulation of cell population proliferation	NAS	17159080
GO:0046718	Process	Symbiont entry into host cell	IDA	33713620
GO:0046982	Function	Protein heterodimerization activity	IPI	10993080
GO:0050727	Process	Regulation of inflammatory response	IC	1378723
GO:0050729	Process	Positive regulation of inflammatory response	TAS	17159080
GO:0060326	Process	Cell chemotaxis	IDA	15635042
GO:0086097	Process	Phospholipase C-activating angiotensin-activated signaling pathway	IDA	1378723
GO:0090205	Process	Positive regulation of cholesterol metabolic process	IMP	18971559
GO:0097746	Process	Blood vessel diameter maintenance	IC	1378723
GO:1903589	Process	Positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IGI	25850724
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	TAS	17159080

Other IDs

• MIM: 106165
• HGNC: 336
• e!Ensembl: ENSG00000144891

Protein

• UniProt ID: P30556
• Protein name: Type-1 angiotensin II receptor (AT1AR) (AT1BR) (Angiotensin II type-1 receptor) (AT1 receptor)
• Protein function: Receptor for angiotensin II, a vasoconstricting peptide, which acts as a key regulator of blood pressure and sodium retention by the kidney (PubMed:15611106, PubMed:1567413, PubMed:25913193, PubMed:26420482, PubMed:30639100, PubMed:32079768, Pub
• PDB: 4YAY, 4ZUD, 6DO1, 6OS0, 6OS1, 6OS2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	45 → 302	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Liver, lung, adrenal and adrenocortical adenomas. {ECO:0000269|PubMed:1378723}.
• Sequence:

  MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVIVIYFYMKLK
  TVASVFLLNLALADLCFLLTLPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLT
  CLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLASLPAIIHRNVFFIENTNITVC
  AFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFK
  IIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPL
  FYGFLGKKFKRYFLQLLKYIPPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE

• Sequence length: 359

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
Essential hypertension	Likely pathogenic	rs1559934279	RCV001535835	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential hypertension, genetic	Likely pathogenic; Pathogenic	rs2107975487, rs398122935, rs397514687	RCV005038256 RCV005025096 RCV005025097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular dysgenesis	Likely pathogenic; Pathogenic	rs1559934279, rs2107975850, rs387906577, rs104893677, rs398122935, rs397514687	RCV001535835 RCV001807654 RCV000019689 RCV000019690 RCV000043468 RCV000043469	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal tubular dysgenesis of genetic origin	Likely pathogenic; Pathogenic	rs2107975487, rs1380295297, rs1417391173, rs398122935, rs397514687	RCV005038256 RCV005869744 RCV003128377 RCV005025096 RCV005025097	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AGTR1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhydramnios	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AORTIC ANEURYSM, ABDOMINAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCTUS ARTERIOSUS, PATENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension, essential, susceptibility to	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATENT DUCTUS ARTERIOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal dysplasia, cystic, susceptibility to	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa 40	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	20361261		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	23480670		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25762441, 31195108		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15814650, 16369744		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	28052030		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29085512		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	8582102, 9330590		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	7490136		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	LHGDN	18296263		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	21143284, 7868875, 9330590		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	8194473		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	18974301		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	CTD_human_DG	16116425		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	ORPHANET_DG	16116425, 22095942		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	UNIPROT_DG	16116425		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	GENOMICS_ENGLAND_DG	25603901		★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27884212, 35969296	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26923013		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30134927		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	28281389	Stimulate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	29982608	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	29982608		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25756513		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23892268, 28754072		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23892268, 28754072		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	18239157, 25614286, 29300219		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	18239157, 26027897	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26027897	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	25767191	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	15694792, 17182923, 18239157, 18550062, 25168322, 26027897, 27533781, 29359665, 30197158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Abdominal	Aortic Aneurysm	LHGDN	18239157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Abdominal	Aortic Aneurysm	CTD_human_DG	22539767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic coarctation	Aortic Coarctation	BEFREE	30863432		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	35341274	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	22939041, 37210443	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11486244, 11897210, 12627873, 15507206, 17298481, 17487826, 17761193, 19696781, 20505677, 23075332, 23176214, 26771341, 27016615, 27168137, 28648738, 31307370, 31595199		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	33530239	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11457745		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	30715101		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11486244, 11897210, 12627873, 15507206, 17298481, 17487826, 17761193, 19696781, 20505677, 23075332, 23176214, 26771341, 27016615, 27168137, 27246357, 28648738, 31307370, 31595199		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17220293, 17336987		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17298481, 19246543, 22362742, 23259529, 24452940, 34292876	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	10851203, 20080265, 23210602, 28381466, 29441892, 30571551		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	20080265	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	23210602	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29618472		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	31607943		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30068867		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	7699991		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	27882567		★☆☆☆☆ Found in Text Mining only
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	BEFREE	29180262, 29359665		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	38482990	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	20978160, 28599664		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	31042345	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24981111, 35091110	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	15984009, 17220293		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	17220293	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	LHGDN	16636899		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	23343134	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	24414230		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11685554, 15498791, 16823505, 18310294, 18395779, 19286759, 19487683, 20458733, 20945417, 21109584, 21638051, 22426690, 23092556, 23700157, 24055489, 25981295, 26041128, 26634463, 26975580, 27213551, 28416734, 29259013, 29413755, 31219799, 31525726, 31642813		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19286759, 21109584, 22581182, 25077884, 27213551, 31642813	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	19571582		★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	BEFREE	25099136		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31538912, 38320622	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	20978160, 28599664		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18827978, 28595131		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21102591, 33916968, 34671200	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11337361	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	31570446		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15814650, 16434990, 30845964		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	17481528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	15814650		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	20594303, 9822439	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	8869132		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies, Primary	Cardiomyopathy	BEFREE	28120210		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	9815151	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	20975235	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	19074594, 20594303, 20975235, 21163866, 9822439	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28120210, 9547445		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28120210		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10351920, 10738546, 10937949, 11134677, 11707686, 12676161, 12925562, 16121033, 16274774, 16492203, 16519598, 19138313, 19330904, 20537563, 20851291, 20945417, 21657802, 23176214, 24603556, 25168322, 28096461, 28338370, 28648738, 28792482, 29136335, 29157100, 30205174, 30920415, 31319155, 31537750, 31538912, 9717050, 9740630		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	10937949, 18985387, 20864943, 27342049, 28096461, 29982608, 30920415, 31538912, 34292876, 37270600	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	17375465, 17588946		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	16519598, 17220293, 27016615		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	15196067	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	16691016, 16775386, 24167376, 24981111, 32633380, 38025202	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	20731660, 21986569		★☆☆☆☆ Found in Text Mining only
Cerebral Vasospasm	Cerebral Vasospasm	BEFREE	29214400, 29273947		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16691016, 17220293, 17522061, 17586411, 18347611, 19706421, 21986569, 24020479, 30103772, 31849284		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17586411, 17726226, 18551012		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	17220293, 23176214		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	17220293, 22723444, 34745325	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31538912	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	22939041, 27075034, 29286056		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11053482, 12187084, 12728975, 12832734, 12950120, 15045574, 15946912, 16105049, 16525944, 19288324, 19954723, 21163122, 23176211, 23902432, 29982608		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	10073605, 12832734, 16396964, 16672053, 19056482, 19274077, 19406964, 19954723, 21640098, 22147663, 23717629, 24907556, 28081856, 28449154, 28542215, 29296205, 29425281, 29581855, 31770762		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	12832734, 16672053		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	19236533		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15743363, 19040540, 20833658		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	31828731		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	24807206, 27389178		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	38482990	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	19274077, 25124854	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29155324, 30611671		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30636592, 31478086		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31781593	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	28742157		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	15017542		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital posterior urethral valves	Congenital Posterior Urethral Valves	BEFREE	10353402		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10715259, 10937949, 15569271, 16651460, 18594050, 18612202, 19300450, 19717736, 22025374, 22939041, 24465706, 24992619, 26345849, 26699387, 27075034, 27321284, 28381466, 28848201, 29286056, 29343862, 29495326, 29593122, 29701105, 29982608, 30050591, 30687708, 31447777, 31629013, 9281460, 9302352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	17208988, 18214293, 18586661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conn Adenoma	Conn Adenoma	BEFREE	16715648, 29436482, 30058103, 31476908, 31476909, 7588380, 7792812, 9024263		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	25172908, 27219889, 30007283, 30058103, 30518805, 31476908, 31476909, 7868875		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	7490136		★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	BEFREE	26322922		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10435047, 10731400, 11134677, 11250978, 11904535, 12747597, 12975417, 14627489, 15543360, 16820589, 18787943, 20732682, 21570644, 21825227, 22307319, 22645060, 22782431, 23176211, 23572029, 26045830, 27050965, 27342049, 31538912, 8842348, 9351388, 9857918, 9893731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	10488959, 10615414, 10731400, 11134677, 11393670, 12747597, 12975417, 14627489, 15295089, 15320825, 15543360, 15563875, 15863668, 16820589, 17069818, 18787943, 20223792, 20732682, 20854100, 21570644, 21825227, 22645060, 22782431, 23176211, 26045830, 26670794, 27050965, 27342049, 31538912, 8842348, 8925576, 9351388, 9857918, 9893731		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	12975417, 24722536, 27021566, 27342049, 37270600	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17336987		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	14627489, 15863668, 19327134, 26045830, 31538912	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	16088850	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10731400, 11082147, 11134677, 12747597, 12975417, 14502296, 14627489, 15295089, 15543360, 15863668, 16088850, 16820589, 18787943, 20732682, 21570644, 21722816, 21825227, 22645060, 22782431, 23176211, 25762441, 26045830, 27050965, 27342049, 31538912, 8842348, 9351388, 9857918, 9893731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	LHGDN	12925562, 16088850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Restenosis	Coronary restenosis	Pubtator	26261635, 32093874, 34065198	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	34065198	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	15295089, 8842348		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	LHGDN	15295089		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30068867		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	7490136		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	30880689		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29928576, 31408841		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27639288, 28507470		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35969296	Inhibit	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	16603315		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15949885, 17586781, 22021115, 22703619, 27639288		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	22021115, 22703619	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	31480330		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11938025, 15364165, 17761193, 18413189, 18563171, 19247266, 19502258, 20580725, 20854388, 27168137, 27612496, 28361992, 28842434, 29136335, 29702126, 30406819, 9389421		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10073605, 11938025, 15364165, 17761193, 18413189, 18563171, 19247266, 19273745, 19502258, 20580725, 20854388, 21570644, 21657802, 22392878, 26455386, 27168137, 27358275, 27612496, 28361992, 28730079, 28842434, 29136335, 29702126, 30406819, 9389421		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19502258, 32306916, 33820928, 34292876, 36577936, 37996337	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23259529	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30630996, 32306916, 37996337	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10328465, 10969844, 14569094, 15364165, 18413222, 20854388, 21316998, 8671962, 9351388, 9371475, 9389421		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10364706, 12728975, 16492203, 20580725, 21670585, 23081748, 23259529, 23745680, 24549414, 27864612, 29277343, 30406819, 30903169, 30972549, 31539597, 9218178		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12716844		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	24225429, 30630996, 32370637, 37210443, 37996337	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10073605, 10328465, 10364706, 10907125, 10969844, 11776100, 11863362, 12716812, 12728975, 14569094, 15364165, 17143591, 17487826, 17653210, 18413189, 20854388, 21316998, 21607620, 22647632, 23081748, 26619914, 30313019, 30699330, 30909895, 8671962, 9371475, 9389421, 9648845		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	15946912, 18413189		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	11938025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	12716844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	CTD_human_DG	16601577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	17668390		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	17668390	Associate	★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	27465141	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	31607943		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	20816596, 21670585		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	21436209, 9431843, 9719367		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	22170435		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22525818, 23273598, 27956412, 30105775		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22170435	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19524223, 22084859, 24571615		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	22084859, 36524127	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29223539		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32633380	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30845964		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	24468662	Inhibit	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10082497, 10526907, 10720584, 11165203, 11246471, 11336183, 11593574, 11687736, 11793845, 11966404, 12358135, 12482634, 12627871, 13678427, 14627489, 15042429, 15386947, 15492474, 15640279, 16109907, 16519598, 17190732, 17227479, 18575418, 19833117, 20027122, 20223791, 21234654, 21557256, 21779803, 22407378, 24047102, 24131669, 24145933, 24992666, 25628312, 26335431, 26658476, 28157766, 28376480, 29627490, 30311805, 30362602, 8021009, 8790439, 9084931, 9482944, 9498106, 9544872, 9717050		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential Hypertension	Hypertension	Pubtator	12358135, 12627871, 14627489, 15492474, 17190732, 17546276, 24992666, 25628312, 26283679, 28157766, 32555714, 35091110, 35126748, 35866766, 36577936	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential Hypertension	Hypertension	GENOMICS_ENGLAND_DG	25603901		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential Hypertension	Hypertension	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	19332265, 25603901	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	19395110		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	19040540, 19628656, 23762250, 26385087, 28822808		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	14610337, 9853248		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	9853248		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	21771600		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	21771600		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	21896050		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30092004		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	10073605, 15458433		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	15458433	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	38154557	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	15153558		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	14597852		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	16651460		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20975235, 21449976	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	9815151	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10715259, 15569271, 16651460, 18594050, 18612202, 19300450, 24465706, 26345849, 27321284, 28381466, 29343862, 29495326, 29593122, 29701105, 29982608, 30050591, 30687708, 31447777, 31629013, 9281460, 9302352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	10937949, 18279468, 19246543, 22362742, 22939041, 24992619, 26138177, 28096461, 29982608, 35886041	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	LHGDN	12133421, 18767410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	15569271, 35886041	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	17208988, 18214293, 18586661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Diastolic	Heart Failure	BEFREE	19021695, 19185300, 19330904		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	17208988, 18214293, 18586661		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	29593122		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	21332426		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	16521052		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	27028410		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	15364762, 27732943		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	19177201	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	LHGDN	11903322		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	29436482		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	33796077	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	11082147, 11165203, 18787943, 23321401		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	12117739, 18787943		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10969844, 22647632, 28754590, 30177375, 9389421		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29296021		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	17893258, 30084918		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	22362742	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperkalemia	Hyperkalemia	Pubtator	33768328	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	23259529	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	BEFREE	31271743		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11153734, 12358135, 12627871, 12631360, 12950120, 14597852, 14627489, 15492474, 15863668, 16691016, 16876684, 17334527, 17668390, 18550936, 18698212, 19246543, 19274051, 19593696, 19730394, 20811292, 20886000, 21298017, 21628354, 21846682, 22362742, 24015270, 24047102, 24981111, 25591555, 25961019, 26240115, 28096461, 30920415, 32306916, 33541272, 35091110, 35126748, 35866766, 37270600, 37525908, 38573093	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	28381821	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Malignant	Malignant hypertension	Pubtator	17984617	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	35726726	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	15326089, 21143284, 28210225, 29399101, 7868875		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10082497, 10328465, 10405780, 10726712, 10738546, 10779083, 10904004, 10969844, 11018802, 11134677, 11165203, 11246471, 11457745, 11566928, 11593098, 11687736, 11692158, 11727501, 11926202, 12030600, 12215254, 12460700, 12513040, 12627871, 12627873, 12950120, 14586391, 14597852, 14620933, 14688210, 15017542, 15117826, 15364762, 15480098, 15492474, 15545843, 15863668, 15923814, 16396964, 16636198, 16685579, 16790149, 16876684, 16998258, 17211857, 17229913, 17261659, 18049108, 18497458, 18550936, 18641512, 19023273, 19341158, 19680137, 19681973, 19696781, 19706421, 20223791, 20361261, 20525211, 20703234, 20851291, 20864943, 20966899, 21030904, 21298017, 21628354, 21640098, 21657802, 21846682, 22392878, 22739771, 23139134, 23176211, 23321401, 23339167, 23712358, 23823602, 24015270, 24047102, 24131669, 24202179, 24356540, 24414230, 24622918, 24790136, 25031294, 25168322, 25494405, 25652270, 25961019, 25981295, 25990648, 26667412, 26787451, 27298316, 27480094, 27664954, 27756246, 28034895, 28070059, 28081856, 28338001, 28338370, 28338973, 28381821, 28445961, 28483563, 28514967, 28527699, 28648738, 28648830, 28745785, 28750406, 28754555, 28831241, 28832363, 28842434, 28927645, 28957753, 29036458, 29042424, 29061726, 29156380, 29172730, 29223539, 29266977, 29280941, 29405962, 29593124, 29643817, 29935157, 29990562, 30061705, 30084918, 30158382, 30255752, 30311805, 30326265, 30380548, 30385711, 30498455, 30715101, 30842613, 30920415, 30951517, 30991833, 31037647, 31241170, 31321561, 31330445, 31378101, 31476909, 31537750, 31606379, 31607943, 31677381, 31721604, 31755934, 31787052, 31805646, 7600049, 7743157, 8254174, 8671962, 8790439, 8946073, 9218178, 9227291, 9330590, 9371475, 9431842, 9482944, 9544872, 9815152		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	11799082, 12048678, 12358135, 12390711, 12482634, 12597535, 12925562, 15042429, 15480097, 15545843, 16012192, 16109907, 17190732, 18550936, 18622242, 18633425, 18641512, 18767410, 19023273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	19047579, 23603059, 27292124, 8952600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive Nephropathy	Hypertensive nephropathy	Pubtator	27756246	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28063219, 29178049		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15640279, 19074594, 20594303, 20975235, 21163866, 28120210, 9822439		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	17165166		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15640279, 19074594, 20594303, 9822439		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	15049387, 19074594, 9822439	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	15049387, 36577936, 9822439	Associate	★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	31079923		★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	27940662	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	32293282	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	19332265, 25603901, 31607942		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17630322		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24473559	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32777324	Stimulate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	11053482, 11354780, 15031629, 15153745, 15458433, 15504143, 21163122, 25585948, 26588355, 26782590, 30159797, 9259580		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	15458433		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24807206, 27389178, 27572961, 30103772, 31425697		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	28376078		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	39255543	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30920415, 32382544	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38482990	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	18026817		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29990562		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	15480097, 16691016, 16775386, 16787209, 17702963, 17726226, 18551012, 21986569, 24981111, 28566152, 28669009, 31721599		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10073605, 10328465, 12950120, 15756705, 16384824, 17143591, 19108684, 20478903, 20854388, 23081748, 23762470, 25148511, 28482281, 28541811, 30084918, 9371475, 9389421, 9853248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	11339691, 12950120, 15196067, 19327134, 20478903, 24225429, 24241364, 33768328, 34448643, 37525908, 37996337	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	CTD_human_DG	15213268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	26084932	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	10364706, 12832734, 12950120, 15662219		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	12950120, 16105049, 24977181, 29982608	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	11793101, 22639821, 29520166, 30204779, 31425697		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10073605, 11053482, 12187084, 12728975, 12832734, 12950120, 15045574, 15946912, 16105049, 16525944, 19288324, 19954723, 21163122, 23176211, 23902432, 29982608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	LHGDN	12832734, 16105049, 16384824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	33768328, 37627246	Associate	★☆☆☆☆ Found in Text Mining only
LAURIN-SANDROW SYNDROME	Laurin-Sandrow syndrome	BEFREE	28518223		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	11910301, 12022239, 12425365, 12640257, 13678427, 14620933, 14700505, 15049387, 15188945, 15237695, 15301563, 15614026, 17903694, 18464745, 19074594, 19997001, 20966596, 8800593, 9227291, 9482944, 9822439		★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	25036270		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	17208988, 18214293, 18586661		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	28253719		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31117912		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24391821, 26225830, 28315953, 31171895, 31538912, 7774681		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15743363, 19040540, 20833658		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30920415	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	26225830, 31538912, 7774681		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	16105049	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28530466, 30094750		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	16047641		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	BEFREE	17984617, 21557256, 28004166		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11685554, 15498791, 16823505, 18310294, 18395779, 19286759, 19487683, 20458733, 20945417, 21109584, 21638051, 22426690, 23092556, 23700157, 24055489, 25981295, 26041128, 26634463, 26975580, 27213551, 28416734, 29259013, 29413755, 31219799, 31525726, 31642813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22525818, 23273598, 27956412, 30105775		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	29552215		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18827978, 28595131		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15814650, 16434990, 30845964		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11334891, 23477656, 25646808		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14617787, 16369744, 17440964, 18184167, 22430461, 29260398		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17486447, 17548686		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	20978160, 28599664		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15814650, 17548686, 18059164, 19212105, 19333191, 20458733, 22188725, 22426690, 25981295, 27213551, 29048654, 29259013, 29413755, 29482191, 30105775, 30798689, 30845964, 31642813, 9893668		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16805920		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	18242274, 21858106, 25614286, 27181042, 28768908, 29300219, 29371244, 30651002		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	24398790	Associate	★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	BEFREE	15042429, 29845261		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19771429, 30478450, 31516746		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29558744	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15949885, 17586781, 22021115, 22703619, 27639288		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28641333		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24834011, 24991574, 28539232, 29257219, 30101377, 30177375		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	15863668, 19619703, 26910623, 30920415	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	11213892, 15863668, 18205097, 19023273, 19619703, 20816596, 20851291, 21570644, 24200052, 24385301, 29036458, 29434287, 30205174, 30920415, 30951517, 31420755		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30478450		★☆☆☆☆ Found in Text Mining only
Microangiopathy, Diabetic	Diabetic cardiomyopathy	BEFREE	8671962		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	19178574		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19178574		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	11999641	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	10618569, 11999641, 17379330, 18242274		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	18363708		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26342026	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	15295089		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	LHGDN	15295089		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31042345	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19706421, 27000216, 31828731		★☆☆☆☆ Found in Text Mining only
Muscular dystrophy congenital, merosin negative	Congenital Muscular Dystrophy	BEFREE	25766329		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	17208988, 18214293, 18586661		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10435047, 10488956, 10731400, 10739375, 11122322, 11137090, 11330506, 11393670, 11904535, 12460700, 15454732, 16911325, 16998258, 17211857, 17293603, 17522061, 18347611, 19713412, 20537563, 21163865, 23178513, 24167376, 24414230, 30050591, 30233413, 30531435, 7934345, 8842348, 9298740, 9796075, 9814614, 9857918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	11324803, 21163865, 21330421, 22392878, 24167376, 29982608	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	16923768, 17293603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	10435047, 11904535, 15295089, 15496309, 20537563, 23572029, 9857918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19687742, 30071515		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10450835, 11380493, 16434990, 17548686, 18026817, 19487683, 20945417, 22188725, 23273598, 25138435, 26975580, 27956412, 28052030, 28416734, 29413755, 30071515, 30151510, 30478450, 30914029, 31117912, 31219799, 31642813, 8582102, 9330590		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	20478903	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	16525944, 31566427		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29752427		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28828974, 31054884		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Essential hypertension	Essential Hypertension	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	19302184, 23484035, 27342049, 29636553, 30793973, 30920415, 30951517		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30951517		★☆☆☆☆ Found in Text Mining only
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	BEFREE	10964835		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	11685554		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12030600, 20816596, 21657802, 21779803, 22880127, 23745680, 28646121		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22880127	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34292876, 39464190	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	30043596		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31473996		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28073349, 29482191		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	18491423		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	15814650		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19524223	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	23615648		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16434990, 30845964		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16434990		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16434990	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11334891, 23477656, 25646808		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11334891	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	22353325		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28445961, 28836869, 30006683		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35513515, 38272954	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28445961, 30006683		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	10851203		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	27759448	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	12904590, 18026817, 19336370, 20118823, 27465141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	CTD_human_DG	12904590, 19336370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent Ductus Arteriosus Familial	Patent ductus arteriosus	CTD_human_DG	12904590, 19336370		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	20824505, 22088425		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31333451		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31473996		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	19782519	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19755917, 19782519		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	19782519		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	15698454		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	LHGDN	18296263		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	CTD_human_DG	16977796		★☆☆☆☆ Found in Text Mining only
Pituitary carcinoma	Pituitary carcinoma	CTD_human_DG	16977796		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	CTD_human_DG	16977796		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pleurisy	Pleuritis	BEFREE	24068433		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	12950120	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	12950120		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19524223, 23564192		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	17873518	Stimulate	★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	15743363		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27639288, 28507470		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14617787, 16369744, 17440964, 18184167, 22430461, 29260398		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	20026870	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20026870, 29260398	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	19628656		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30304544		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	19332265, 25603901		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	19332265, 25603901	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34051791	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	27732943	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31278346		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	35726726	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	29552215		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24978482, 7490136		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	25148511, 28274926, 31385893		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	12832734, 15662219, 16396964, 16525944, 17903694, 30084918, 30531435		★☆☆☆☆ Found in Text Mining only
Renal tubular dysgenesis of genetic origin	Renal Tubular Dysgenesis Of Genetic Origin	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal Tubular Dysgenesis With Choanal Atresia And Athelia	Renal Tubular Dysgenesis With Choanal Atresia And Athelia	ORPHANET_DG	16116425, 22095942		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	20134095, 24127120, 30537127, 31376462		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	26172140		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30566576, 31636038		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	18787502, 26172140		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	18787502	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29122658		★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	BEFREE	29593122		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	10351920		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	20560294, 9713444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	9713444	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30993607		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	24473559	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	29760662		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31433522		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	16085213		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25186767, 26342026, 33513805	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29085512		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	21657802, 22475523, 30632033, 31195108		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	19395110, 27421062		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17486447, 17548686		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17486447		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18059164	Associate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	28376078		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34745325	Stimulate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	25168322, 29214400, 29273947		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	14730619, 26970493, 27488275		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	14730619		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	38025202	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30661062, 32047817	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	7699991		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34898568	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	31554351		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	17586781, 27488275, 29259013		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22021115, 26261635, 30920415	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	38125704	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	10615414, 18245065, 22939041		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	22237156, 22297600, 26138177	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	10639182		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	15045574, 27988909		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	10233502, 12478352, 15045574, 19288324, 25939993		★☆☆☆☆ Found in Text Mining only