APOH (apolipoprotein H)

Gene

• Entrez ID: 350
• Gene name: Apolipoprotein H
• Gene symbol: APOH
• Synonyms (NCBI Gene): B2G1, B2GP1, BG
• Chromosome: 17
• Chromosome location: 17q24.2
• Summary: Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphos

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs398124629	T>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017373	hsa-miR-335-5p	Microarray	18185580
MIRT621471	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621470	hsa-miR-764	HITS-CLIP	23824327
MIRT621469	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT650871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT650870	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT621471	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621470	hsa-miR-764	HITS-CLIP	23824327
MIRT621469	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT650871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT650870	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT634105	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT634104	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT634103	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT634102	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT634101	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT634100	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT634099	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT634098	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT634097	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT634096	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT634095	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT634094	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT634093	hsa-miR-302e	HITS-CLIP	23824327
MIRT634092	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT634091	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT634090	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT634089	hsa-miR-520b	HITS-CLIP	23824327
MIRT634088	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT634087	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT634086	hsa-miR-520e	HITS-CLIP	23824327
MIRT634085	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT634084	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT634083	hsa-miR-520h	HITS-CLIP	23824327
MIRT634082	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT634081	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT634080	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT634079	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT634078	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT634077	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT621471	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621470	hsa-miR-764	HITS-CLIP	23824327
MIRT621469	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT621471	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621470	hsa-miR-764	HITS-CLIP	23824327
MIRT621469	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT650871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT650870	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT621471	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621470	hsa-miR-764	HITS-CLIP	23824327
MIRT621469	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT650871	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT650870	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT634105	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT634104	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT634103	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT634102	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT634101	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT634100	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT634099	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT634098	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT634097	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT634096	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT634095	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT634094	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT634093	hsa-miR-302e	HITS-CLIP	23824327
MIRT634092	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT634091	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT634090	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT634089	hsa-miR-520b	HITS-CLIP	23824327
MIRT634088	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT634087	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT634086	hsa-miR-520e	HITS-CLIP	23824327
MIRT634085	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT634084	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT634083	hsa-miR-520h	HITS-CLIP	23824327
MIRT634082	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT634081	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT634080	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT634079	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT634078	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT634077	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT621471	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621470	hsa-miR-764	HITS-CLIP	23824327
MIRT621469	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621468	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT621467	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT621466	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT621465	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT621464	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT621463	hsa-miR-640	HITS-CLIP	23824327
MIRT621462	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT790067	hsa-miR-4504	CLIP-seq
MIRT790068	hsa-miR-542-3p	CLIP-seq
MIRT790069	hsa-miR-595	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	17872974
GO:0005515	Function	Protein binding	IPI	9269765, 16480936, 19805618, 20223219, 32759297, 32814053
GO:0005543	Function	Phospholipid binding	IDA	15486070
GO:0005576	Component	Extracellular region	HDA	20551380
GO:0005576	Component	Extracellular region	HDA	27068509, 27559042
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Component	Extracellular space	IDA	15486070
GO:0005615	Component	Extracellular space	IEA
GO:0007597	Process	Blood coagulation, intrinsic pathway	IDA	4052628
GO:0008201	Function	Heparin binding	IEA
GO:0008289	Function	Lipid binding	IDA	222615
GO:0009986	Component	Cell surface	IDA	16480936
GO:0010596	Process	Negative regulation of endothelial cell migration	IDA	17872974
GO:0016525	Process	Negative regulation of angiogenesis	IDA	17872974
GO:0030193	Process	Regulation of blood coagulation	IEA
GO:0030194	Process	Positive regulation of blood coagulation	TAS	16480936
GO:0030195	Process	Negative regulation of blood coagulation	IDA	4052628
GO:0031089	Component	Platelet dense granule lumen	TAS
GO:0031639	Process	Plasminogen activation	IDA	16480936
GO:0033033	Process	Negative regulation of myeloid cell apoptotic process	IDA	15534879
GO:0034197	Process	Triglyceride transport	ISS	7078428
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	222615
GO:0034364	Component	High-density lipoprotein particle	IDA	222615
GO:0034371	Process	Chylomicron remodeling	IDA	7417307
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IDA	7417307
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	IDA	15534879
GO:0035473	Function	Lipase binding	IPI	7417307
GO:0042627	Component	Chylomicron	IDA	222615
GO:0042802	Function	Identical protein binding	IPI	18822289, 19805618
GO:0051917	Process	Regulation of fibrinolysis	IDA	16480936
GO:0051918	Process	Negative regulation of fibrinolysis	IDA	14726399
GO:0060230	Function	Lipoprotein lipase activator activity	IDA	7417307
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090208	Process	Positive regulation of triglyceride metabolic process	IDA	7417307

Other IDs

• MIM: 138700
• HGNC: 616
• e!Ensembl: ENSG00000091583

Protein

• UniProt ID: P02749
• Protein name: Beta-2-glycoprotein 1 (APC inhibitor) (Activated protein C-binding protein) (Anticardiolipin cofactor) (Apolipoprotein H) (Apo-H) (Beta-2-glycoprotein I) (B2GPI) (Beta(2)GPI)
• Protein function: Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells.
• PDB: 1C1Z, 1G4F, 1G4G, 1QUB, 2KRI, 3OP8, 4JHS, 6V06, 6V08, 6V09, 6XSD, 6XST, 7JIK, 7KG4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	23 → 79	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	81 → 137	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	142 → 200	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	205 → 260	Sushi repeat (SCR repeat)	Domain
  PF09014	Sushi_2	261 → 345	Beta-2-glycoprotein-1 fifth domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
• Sequence:

  MISPVLILFSSFLCHVAIAGRTCPKPDDLPFSTVVPLKTFYEPGEEITYSCKPGYVSRGG
  MRKFICPLTGLWPINTLKCTPRVCPFAGILENGAVRYTTFEYPNTISFSCNTGFYLNGAD
  SAKCTEEGKWSPELPVCAPIICPPPSIPTFATLRVYKPSAGNNSLYRDTAVFECLPQHAM
  FGNDTITCTTHGNWTKLPECREVKCPFPSRPDNGFVNYPAKPTLYYKDKATFGCHDGYSL
  DGPEEIECTKLGNWSAMPSCKASCKVPVKKATVVYQGERVKIQEKFKNGMLHGDKVSFFC
  KNKEKKCSYTEDAQCIDGTIEVPKCFKEHSSLAFWKTDASDVKPC

• Sequence length: 345

Pathways

KEGG:

Cholesterol metabolism

Reactome:

Platelet degranulation

Associated diseases

Evidence Score:

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANTIPHOSPHOLIPID SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APOH POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIAL OCCLUSIVE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Activated Protein C Resistance	Activated Protein C Resistance	LHGDN	19002041		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	28063132		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	29243487		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35011591	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	26670100		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	10025920, 10366111, 10446865, 10643701, 11535526, 11711550, 11895785, 12235181, 12437660, 12571857, 12648080, 12871461, 15641049, 16472380, 17195232, 17223652, 20377996, 21255251, 21899894, 22106343, 22932793, 23811002, 24656088, 25027437, 25948765, 26576675, 28193831, 28667788, 29620217, 30923525, 31812994, 34107171, 35493489, 36012233, 36550078, 37243946, 9605162, 9933445	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid Syndrome	GENOMICS_ENGLAND_DG	10446865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	10928466, 10996835, 11711550, 11895785, 11961169, 12471146, 12571857, 12780700, 15240156, 15641049, 17265495, 18485085, 18827054, 19758232, 20462962, 20655705, 21029246, 21123944, 21781264, 22246055, 22399073, 22964479, 22966172, 24642748, 24970589, 25546421, 26786324, 27449504, 28153662, 28193831, 28347805, 28363116, 28550190, 28711993, 28719914, 28804831, 29049363, 29274563, 29321641, 29500169, 29867951, 29894515, 30005228, 30007134, 30192824, 30316989, 30355196, 30399161, 30405613, 30703819, 30872365, 30904681, 31042125, 31126213, 31173887, 31287415, 31471128, 31654747, 31704719, 31812994, 9712077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid Syndrome	LHGDN	11953211, 12471146, 12571857, 14601646, 14768953, 15507263, 15507264, 15641049, 16603439, 17469158, 18328538, 19002041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	12531807, 12780700, 26264622	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31782769		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24436371, 24970589, 26045739, 26820623, 30619248, 30872365, 31654747		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	14768953, 15025925, 16603439		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	20377996	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24436371, 24970589, 26045739, 26820623, 30619248, 30872365, 31654747		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	35755170	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24174712	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	10792380, 12437660, 19132787, 23279374, 9861005	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11593645, 23279374, 23713583, 24436371, 29121809, 30192824, 30619248, 31808834		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	LHGDN	12918732		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	34040049	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	34232570	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	18654666, 23578283	Inhibit	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	34107171	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39291803	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	14984368, 17659677	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19132787		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19132787	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	20377996	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	12571857	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	19132787	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	9933445	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	17005112, 18777117, 29489742		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	LHGDN	19069167		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	35293591	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	15370721		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	40428345	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21377902, 29669399	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22701550	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30542696, 36101808	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28004973		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23279374, 37686357	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	34040049	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	28063132		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	28667788	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19878946		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19878946		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28425473, 9377806	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37686357	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28979671, 29489742, 30259578		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	26045739		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	LHGDN	15916797		★☆☆☆☆ Found in Text Mining only
Evans syndrome	Evans Syndrome	BEFREE	30543928		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	17005112		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	3923375		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	28632502		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	28632502		★☆☆☆☆ Found in Text Mining only
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	34360799	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	12740481		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	31782769		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	12740481	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	12740481		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	Pubtator	12740481	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	14707422		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	26667175	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29350259, 30355275		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31104025		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21377902	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19783216, 31722435		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	38027143	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	19535796		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	15094940		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	22932793	Associate	★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	15583739, 18955411, 22893315, 25586317, 28153662, 28262231, 28711993, 29385876, 30074200, 30355275, 30921233, 31042125, 31679995		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	19132787, 30703819, 30872365		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10366111, 12605674, 19132787, 22932793, 23214196, 28667788, 38609158	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	12780700, 29669399	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	19132787, 30703819, 30872365		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10602447, 11961169, 12780700, 15370721, 19132787, 24436371, 24661363, 25555913, 29572548, 30543928, 30619248, 30703819, 30872365, 31667763, 8324900, 9672992, 9706422		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	19132787	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	19132787, 30703819, 30872365		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	12038453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28004973		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20655705		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31454804		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19878946		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28193831, 30904681		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	31837042		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28193831	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	33299887	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19783216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	10435722	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20655705		★☆☆☆☆ Found in Text Mining only
Neuropsychiatric Systemic Lupus Erythematosus	Neuropsychiatric Systemic Lupus Erythematosus	BEFREE	31315530		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26711810, 28425473	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	LHGDN	17057945		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30192824		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	24472415		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	17223652	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	11534260, 11895785, 12471146, 12571857, 12780700, 12967526, 15641049, 16472380, 17265495, 18827054, 19659549, 19758232, 21029246, 21123944, 21781264, 22246055, 22399073, 22964479, 24180619, 24436371, 24642748, 24970589, 25546421, 26318678, 26576675, 26786324, 27449504, 28193831, 28347805, 28727732, 28769114, 28804831, 29049363, 29184033, 29274563, 29385876, 29500169, 29601942, 29604397, 29620217, 29867951, 29894515, 29936552, 30255283, 30355196, 30405613, 30543928, 30619248, 30703819, 30904681, 31018220, 31126213, 31134087, 31173887, 31448653, 31471128, 31654747, 31704719, 31812994		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	28252112	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31920121	Associate	★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	31791152		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	28004973		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	24482440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	31837042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	21377902, 33532504	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28811580		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28117613		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	30179217		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36430456	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	27838012		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	18654666	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	18654666	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	24180619, 25081279, 28002027, 30074200		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	25081279	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	10366111, 12807892, 17223652, 22106343, 22932793, 23811002, 25081279, 30549270, 31812994, 34107171, 35293591, 8222331	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	18205270		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19878946		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	8222331	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	25081279	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	28004973		★☆☆☆☆ Found in Text Mining only