KNG1 (kininogen 1)

Gene

• Entrez ID: 3827
• Gene name: Kininogen 1
• Gene symbol: KNG1
• Synonyms (NCBI Gene): BDK, BK, HAE6, HK, HMWK, KNG
• Chromosome: 3
• Chromosome location: 3q27.3
• Summary: This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918131	C>G,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs797044429	A>-	Affects	Frameshift variant, intron variant, coding sequence variant
rs797044430	->C	Affects	Frameshift variant, intron variant, coding sequence variant
rs869320718	TTGTTGTTGTTGTTGTTTGTTTTTTGT>GGTGGTGGTGGTGGTGGTTTGTTTTTGG	Affects	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021957	hsa-miR-128-3p	Microarray	17612493
MIRT755321	hsa-miR-942-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	36550594
MIRT1099502	hsa-miR-3689d	CLIP-seq
MIRT1099503	hsa-miR-4443	CLIP-seq
MIRT1099504	hsa-miR-496	CLIP-seq
MIRT2027022	hsa-miR-1253	CLIP-seq
MIRT2027023	hsa-miR-3174	CLIP-seq
MIRT2027024	hsa-miR-4499	CLIP-seq
MIRT2027025	hsa-miR-4762-3p	CLIP-seq
MIRT1099504	hsa-miR-496	CLIP-seq
MIRT2027026	hsa-miR-5096	CLIP-seq
MIRT2027027	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IDA	3488317
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0005102	Function	Signaling receptor binding	IPI	11290596
GO:0005179	Function	Hormone activity	IDA	1314587, 1329734
GO:0005515	Function	Protein binding	IPI	8710908, 10969042, 11815627, 12011093, 17645545, 23082758, 23597562
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IDA	3488317
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0007162	Process	Negative regulation of cell adhesion	IBA
GO:0007162	Process	Negative regulation of cell adhesion	IDA	11970955
GO:0007162	Process	Negative regulation of cell adhesion	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	16014619
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0008201	Function	Heparin binding	NAS	12911595
GO:0008270	Function	Zinc ion binding	NAS	12911595
GO:0030195	Process	Negative regulation of blood coagulation	IBA
GO:0030195	Process	Negative regulation of blood coagulation	IDA	11970955
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28675934
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031640	Process	Killing of cells of another organism	IDA	12074933
GO:0042311	Process	Vasodilation	IDA	4322742, 6055465
GO:0042311	Process	Vasodilation	IDA	4322742, 6055465
GO:0042311	Process	Vasodilation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	NAS	12715893
GO:0045861	Process	Negative regulation of proteolysis	IDA	3488317
GO:0045861	Process	Negative regulation of proteolysis	IEA
GO:0051241	Process	Negative regulation of multicellular organismal process	IEA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	12074933
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0097746	Process	Blood vessel diameter maintenance	IEA

Other IDs

• MIM: 612358
• HGNC: 6383
• e!Ensembl: ENSG00000113889

Protein

• UniProt ID: P01042
• Protein name: Kininogen-1 (Alpha-2-thiol proteinase inhibitor) (Fitzgerald factor) (High molecular weight kininogen) (HMWK) (Williams-Fitzgerald-Flaujeac factor) [Cleaved into: Kininogen-1 heavy chain; T-kinin (Ile-Ser-Bradykinin); Bradykinin (Kallidin I); Lysyl-bradyk
• Protein function: Kininogens are inhibitors of thiol proteases. HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; HMW-kininogen inhibits the thrombin- and plasmin-induced ag
• PDB: 1NY2, 2WOK, 4ASQ, 4ASR, 4ECB, 4ECC, 5I25, 6F27, 6F3V, 6F3W, 6F3X, 6F3Y, 7EIB, 7F2O, 7F6H, 7F6I, 7QOT, 7QOX, 8VJX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00031	Cystatin	21 → 116	Cystatin domain	Domain
  PF00031	Cystatin	144 → 238	Cystatin domain	Domain
  PF00031	Cystatin	266 → 360	Cystatin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Secreted in plasma. T-kinin is detected in malignant ovarian, colon and breast carcinomas, but not in benign tumors. {ECO:0000269|PubMed:2076202}.
• Sequence:

  MKLITILFLCSRLLLSLTQESQSEEIDCNDKDLFKAVDAALKKYNSQNQSNNQFVLYRIT
  EATKTVGSDTFYSFKYEIKEGDCPVQSGKTWQDCEYKDAAKAATGECTATVGKRSSTKFS
  VATQTCQITPAEGPVVTAQYDCLGCVHPISTQSPDLEPILRHGIQYFNNNTQHSSLFMLN
  EVKRAQRQVVAGLNFRITYSIVQTNCSKENFLFLTPDCKSLWNGDTGECTDNAYIDIQLR
  IASFSQNCDIYPGKDFVQPPTKICVGCPRDIPTNSPELEETLTHTITKLNAENNATFYFK
  IDNVKKARVQVVAGKKYFIDFVARETTCSKESNEELTESCETKKLGQSLDCNAEVYVVPW
  EKKIYPTVNCQPLGMISLMKRPPGFSPFRSSRIGEIKEETTVSPPHTSMAPAQDEERDSG
  KEQGHTRRHDWGHEKQRKHNLGHGHKHERDQGHGHQRGHGLGHGHEQQHGLGHGHKFKLD
  DDLEHQGGHVLDHGHKHKHGHGHGKHKNKGKKNGKHNGWKTEHLASSSEDSTTPSAQTQE
  KTEGPTPIPSLAKPGVTVTFSDFQDSDLIATMMPPISPAPIQSDDDWIPDIQIDPNGLSF
  NPISDFPDTTSPKCPGRPWKSVSEINPTTQMKESYYFDLTDGLS

• Sequence length: 644

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
Angioedema, hereditary, 6	Pathogenic	rs765933558, rs1369253342	RCV001507296 RCV001507297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
High molecular weight kininogen deficiency	Pathogenic	rs121918131, rs752411996, rs2473875619, rs377594184, rs761496908	RCV003325447 RCV002467396 RCV003325634 RCV003325635 RCV003325636	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KININOGEN DEFICIENCY, TOTAL	Pathogenic	rs121918131	RCV000000602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANAPHYLAXIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMAS, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRADYCARDIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HIGH-MOLECULAR-WEIGHT KININOGEN DEFICIENCY	—	ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COUGH	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, OCCUPATIONAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXTRAVASATION OF DIAGNOSTIC AND THERAPEUTIC MATERIALS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioedema with normal C1Inh	not provided; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA WITH NORMAL C1INH NOT RELATED TO F12 OR PLG VARIANT	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEREMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERESTHESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★☆☆☆ 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
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KNG1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME	Ablepharon macrostomia syndrome	BEFREE	20511677		★☆☆☆☆ Found in Text Mining only
Acquired angioedema	Angioedema	BEFREE	21905496, 23406939, 31397881, 9129025		★☆☆☆☆ Found in Text Mining only
Acquired angioedema	Angioedema	CTD_human_DG	9734886		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	3015452, 513486		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29424931		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26879013		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	21078129		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	29535795		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	12532104		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19233276, 26884824, 35612774	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	26884824		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30890928		★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	23940538, 25401373, 31397881, 31488451, 33799813, 33864899, 37524594	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	23940538, 24722707, 29729940, 31236065, 31397881, 31933486, 33034563, 33593719, 33639628, 34838707, 36142237, 36787826, 37524594, 37992228, 39362190	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	31488451, 34684170, 36251573, 38142864	Stimulate	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	10604520, 12039525, 1688910, 17039649, 17418383, 17559913, 18220146, 19203657, 19796797, 19843402, 20143645, 20695852, 21905496, 22149337, 22456031, 22801442, 23406930, 23634741, 23940538, 24484972, 24552232, 26751894, 27018196, 27116602, 27130860, 27273087, 27826093, 28370444, 28687106, 28687107, 29130992, 29214395, 29226721, 29569504, 29599966, 29623491, 29729940, 29909591, 29920929, 30127805, 30176179, 30333824, 30398465, 30463937, 30479631, 30817230, 30876891, 31236065, 31279849, 31347612, 31507620, 31574187, 31655295, 31695331, 31815297, 6222104, 6601240, 8287604, 9129025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary	Angioedema	CTD_human_DG	9734886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	30664203	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11079644, 11298374, 15234555, 30312677, 31473403		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	19966052	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28808141, 30887278		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10197222, 11030378, 11517947, 12532104, 12754192, 26588817, 28444548, 29548973, 30279412, 9003211		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	10197222	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11079644, 11298374, 15234555, 30312677, 31473403		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	11444929, 16623947		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	29207079		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26052927		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30621761		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21643624		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	34232570, 34248840, 36224755, 6561202	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	20479236		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29912902		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10078959, 17359538, 29292579, 8664379		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20557135, 25503118		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19400944	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27150055	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18630525	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30680535, 34206871, 35935258, 39207047	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21643624		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17359538		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15086463, 26831905, 32090070	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31664738		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32633718, 35612774	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12103265		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	10553917	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10560792, 11694220, 15894833, 18927465, 20856803, 30466897, 31338581, 31473403, 7713109, 9880221		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	30288888	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	26159646		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31059006, 31638249		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31059006, 31638249		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	11517947		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35113866, 36224755	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10505688, 12481150, 15771553		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	15771553		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	16600946, 18258629		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28223431		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30028742		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	10988242	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29535795		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23894665, 28628609, 30807603	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	31349925		★☆☆☆☆ Found in Text Mining only
Congenital high-molecular-weight kininogen deficiency	Congenital High-Molecular-Weight Kininogen Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	11804980, 12103265, 12356632, 15840906, 19565561, 28096047, 28116751, 28689178, 30283782, 31473403		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	12107246		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24117346, 29334504, 31473403		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21157371, 23275384, 24117346, 29334504, 31473403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	29207079	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	12103265, 23275384, 24117346, 29334504, 31473403, 8869131		★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	30883022, 32337769, 32938990	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	15805101		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15746099, 341410, 8584404		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	26517864, 30478260		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26764266, 26982743, 27726041		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30310850		★☆☆☆☆ Found in Text Mining only
Dermatitis, Occupational	Dermatitis	CTD_human_DG	30685357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	BEFREE	26576537		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22552531, 28130181, 31426112		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20826789, 22552531, 28130181, 28985857, 29665152, 31426112		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28985857	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	20567501, 32270254	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34248840	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28700653		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11699055, 12574142, 16567544, 22868909, 28597074, 28902927		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	15117887		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32270254, 32778679, 34087849, 34557161	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17065357, 20479236, 22318421, 28390948, 28700653		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30983997, 31298304, 31426112		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	31298304	Inhibit	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	14563691		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	18025295, 29729940, 33640192, 39362190	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalitis	Encephalitis	BEFREE	28242605, 28469598, 29796990, 30804871		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29034546		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30476810, 30804871		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31206169		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	10553917, 29201909	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10560792, 11409654, 15643125, 15894833, 19330902, 22900090, 24401952, 30283089, 30283782		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	30842085		★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	BEFREE	341410		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	9461055		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	28724979		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	24920677	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	33746571	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26671187	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30366000		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30366000		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20411591, 25056222, 28352319, 30068373		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34493981	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29884837		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	29884837	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11804980, 12103265, 15840906, 19565561, 28096047, 28689178, 30283782, 31473403		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30099724		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	39207047	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Angioedema	BEFREE	26193639		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Types I and II	Hereditary angioedema	Pubtator	23940538	Associate	★☆☆☆☆ Found in Text Mining only
High molecular weight kininogen deficiency	High molecular weight kininogen deficiency	BEFREE	1245795, 12576314, 30358441, 3574180, 6710438, 7901207, 893663		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High molecular weight kininogen deficiency	High molecular weight kininogen deficiency	ORPHANET_DG	17522339		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High molecular weight kininogen deficiency	High molecular weight kininogen deficiency	GENOMICS_ENGLAND_DG	28053049, 7901207		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High molecular weight kininogen deficiency	High molecular weight kininogen deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
High molecular weight kininogen deficiency	High molecular weight kininogen deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperemia	Hyperemia	CTD_human_DG	11837250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	30816429		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	10553917	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	14499231, 15643125, 15894833, 20036225, 20944660, 21157371, 22468762, 24378775, 26362411, 27007662, 28587989, 28724548, 30334256, 31319000, 6925142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	17050061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	7027322		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	28137735		★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	18433037, 23276181	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotension	Hypotension	Pubtator	32633718	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	25290246, 31781243		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	28122020	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29909421		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	29909421	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	24920677		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27566183		★☆☆☆☆ Found in Text Mining only
Industrial Dermatosis	Industrial Dermatosis	CTD_human_DG	30685357		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15805101		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19966052	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34836106	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26159646, 28726167, 30018956, 31319000		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17065357, 20479236		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	10809796		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	3015452, 513486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	10505688, 12481150, 15771553		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	29520099	Associate	★☆☆☆☆ Found in Text Mining only
Kininogen Deficiency, Total	Total Kininogen Deficiency	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kininogen Deficiency, Total	Total Kininogen Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	12623134, 12640257, 15894833		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27693494, 28223431, 30144410, 8302012		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28223431		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	39207047	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	30024701	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	8302012		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	38167532	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11377823		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30621761		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29884837		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20557135, 25503118		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17359538		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23803661, 9228549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28464378		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21643624		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23000411, 2351646, 25056222, 25109623, 28464378, 31059006		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31059006, 31638249		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28051178		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15114524		★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	19255735	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	30074774		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	33402507	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30074774		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30288888, 8869131		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30288888	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	17022964		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20557135, 23803661, 28464378, 28939029, 29867502, 30068373, 8664379		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18036509, 21448919, 29867502		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17359538		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15114524, 22868909, 22880127, 29027317		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31623319, 33983957	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37318459	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37874452	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32463805	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28683725	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27721576		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28724548, 30403290		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	28724548		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	30403290		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27840997		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	29734187	Associate	★☆☆☆☆ Found in Text Mining only
Prekallikrein deficiency	Prekallikrein Deficiency	BEFREE	341410, 893663		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30310850		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	29436636		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23803661		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	9228549		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21078129		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23803661	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	30244532, 31338581		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	30244532	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29360776		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	31298304	Inhibit	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	26360782		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28288820, 29034546		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	10638960	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31346501		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	8002664		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	30310850		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29122754, 30397964		★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	30244532	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19074839, 29240723, 33361747	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17178880, 19074839, 25013379		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30804871		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28464378		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34979665	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	8002664		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	28445521	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	30288888, 34668383	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	9275066		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29515778		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	15805101		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	30462774, 30679975		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31638249	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	14517215	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34935423	Stimulate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	25472531, 37537391	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	21270443, 30478260	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	29408903		★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	29436636	Associate	★☆☆☆☆ Found in Text Mining only