C5AR1 (complement C5a receptor 1)

Gene

• Entrez ID: 728
• Gene name: Complement C5a receptor 1
• Gene symbol: C5AR1
• Synonyms (NCBI Gene): C5A, C5AR, C5R1, CD88
• Chromosome: 19
• Chromosome location: 19q13.32

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019124	hsa-miR-335-5p	Microarray	18185580
MIRT030190	hsa-miR-26b-5p	Microarray	19088304
MIRT848590	hsa-miR-1262	CLIP-seq
MIRT848591	hsa-miR-1343	CLIP-seq
MIRT848592	hsa-miR-3179	CLIP-seq
MIRT848593	hsa-miR-339-5p	CLIP-seq
MIRT848594	hsa-miR-3689a-3p	CLIP-seq
MIRT848595	hsa-miR-3689c	CLIP-seq
MIRT848596	hsa-miR-3907	CLIP-seq
MIRT848597	hsa-miR-3945	CLIP-seq
MIRT848598	hsa-miR-4253	CLIP-seq
MIRT848599	hsa-miR-4447	CLIP-seq
MIRT848600	hsa-miR-4450	CLIP-seq
MIRT848601	hsa-miR-4472	CLIP-seq
MIRT848602	hsa-miR-4503	CLIP-seq
MIRT848603	hsa-miR-4505	CLIP-seq
MIRT848604	hsa-miR-4651	CLIP-seq
MIRT848605	hsa-miR-4667-5p	CLIP-seq
MIRT848606	hsa-miR-4700-5p	CLIP-seq
MIRT848607	hsa-miR-4701-3p	CLIP-seq
MIRT848608	hsa-miR-4713-3p	CLIP-seq
MIRT848609	hsa-miR-4728-5p	CLIP-seq
MIRT848610	hsa-miR-4731-3p	CLIP-seq
MIRT848611	hsa-miR-4793-5p	CLIP-seq
MIRT848612	hsa-miR-4801	CLIP-seq
MIRT848613	hsa-miR-485-5p	CLIP-seq
MIRT848614	hsa-miR-608	CLIP-seq
MIRT848590	hsa-miR-1262	CLIP-seq
MIRT1951754	hsa-miR-150	CLIP-seq
MIRT848592	hsa-miR-3179	CLIP-seq
MIRT848597	hsa-miR-3945	CLIP-seq
MIRT848598	hsa-miR-4253	CLIP-seq
MIRT1951755	hsa-miR-4438	CLIP-seq
MIRT848603	hsa-miR-4505	CLIP-seq
MIRT848607	hsa-miR-4701-3p	CLIP-seq
MIRT848610	hsa-miR-4731-3p	CLIP-seq
MIRT848612	hsa-miR-4801	CLIP-seq
MIRT848613	hsa-miR-485-5p	CLIP-seq
MIRT1951756	hsa-miR-5095	CLIP-seq
MIRT1951757	hsa-miR-579	CLIP-seq
MIRT1951758	hsa-miR-664	CLIP-seq
MIRT2189639	hsa-miR-1208	CLIP-seq
MIRT2189640	hsa-miR-1224-3p	CLIP-seq
MIRT848590	hsa-miR-1262	CLIP-seq
MIRT2189641	hsa-miR-145	CLIP-seq
MIRT2189642	hsa-miR-197	CLIP-seq
MIRT2189643	hsa-miR-24	CLIP-seq
MIRT2189644	hsa-miR-2681	CLIP-seq
MIRT848592	hsa-miR-3179	CLIP-seq
MIRT2189645	hsa-miR-4269	CLIP-seq
MIRT2189646	hsa-miR-4284	CLIP-seq
MIRT2189647	hsa-miR-4420	CLIP-seq
MIRT1951755	hsa-miR-4438	CLIP-seq
MIRT2189648	hsa-miR-4466	CLIP-seq
MIRT848603	hsa-miR-4505	CLIP-seq
MIRT848607	hsa-miR-4701-3p	CLIP-seq
MIRT848610	hsa-miR-4731-3p	CLIP-seq
MIRT848612	hsa-miR-4801	CLIP-seq
MIRT2189649	hsa-miR-483-5p	CLIP-seq
MIRT848613	hsa-miR-485-5p	CLIP-seq
MIRT1951756	hsa-miR-5095	CLIP-seq
MIRT2189650	hsa-miR-640	CLIP-seq
MIRT2189651	hsa-miR-675	CLIP-seq
MIRT2189652	hsa-miR-935	CLIP-seq
MIRT848590	hsa-miR-1262	CLIP-seq
MIRT848592	hsa-miR-3179	CLIP-seq
MIRT848603	hsa-miR-4505	CLIP-seq
MIRT848607	hsa-miR-4701-3p	CLIP-seq
MIRT848610	hsa-miR-4731-3p	CLIP-seq
MIRT848612	hsa-miR-4801	CLIP-seq
MIRT848613	hsa-miR-485-5p	CLIP-seq
MIRT2189648	hsa-miR-4466	CLIP-seq
MIRT2189651	hsa-miR-675	CLIP-seq
MIRT2189644	hsa-miR-2681	CLIP-seq
MIRT2493288	hsa-miR-4301	CLIP-seq
MIRT2189648	hsa-miR-4466	CLIP-seq
MIRT2493289	hsa-miR-4775	CLIP-seq
MIRT2493290	hsa-miR-590-3p	CLIP-seq
MIRT2189651	hsa-miR-675	CLIP-seq
MIRT2676954	hsa-miR-129-5p	CLIP-seq
MIRT2189648	hsa-miR-4466	CLIP-seq
MIRT2493289	hsa-miR-4775	CLIP-seq
MIRT2493290	hsa-miR-590-3p	CLIP-seq
MIRT2189651	hsa-miR-675	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001774	Process	Microglial cell activation	IEA
GO:0001774	Process	Microglial cell activation	ISS
GO:0002430	Process	Complement receptor mediated signaling pathway	IBA
GO:0002430	Process	Complement receptor mediated signaling pathway	IDA	37169960
GO:0002682	Process	Regulation of immune system process	IEA
GO:0004875	Function	Complement receptor activity	IEA
GO:0004878	Function	Complement component C5a receptor activity	IBA
GO:0004878	Function	Complement component C5a receptor activity	IDA	10571060, 22496247, 36806352, 37169960, 37852260
GO:0004878	Function	Complement component C5a receptor activity	IEA
GO:0004878	Function	Complement component C5a receptor activity	TAS	10352266
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IPI	10571060
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2007135
GO:0006935	Process	Chemotaxis	IEA
GO:0006935	Process	Chemotaxis	TAS	10352266
GO:0006954	Process	Inflammatory response	IBA
GO:0006955	Process	Immune response	TAS	9590258
GO:0006968	Process	Cellular defense response	TAS	8779720
GO:0007154	Process	Cell communication	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	2007135, 8702752
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	36806352, 37169960, 37852260
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IBA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IBA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	TAS	8702752
GO:0007606	Process	Sensory perception of chemical stimulus	TAS	9590258
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IEA
GO:0010759	Process	Positive regulation of macrophage chemotaxis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	22960554
GO:0023052	Process	Signaling	IEA
GO:0030593	Process	Neutrophil chemotaxis	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032494	Process	Response to peptidoglycan	IEA
GO:0038178	Process	Complement component C5a signaling pathway	IDA	10571060
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	22496247
GO:0045177	Component	Apical part of cell	IDA	22496247
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0048143	Process	Astrocyte activation	IEA
GO:0048143	Process	Astrocyte activation	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	22496247
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0050890	Process	Cognition	IEA
GO:0050890	Process	Cognition	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	22496247
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IEA
GO:0097242	Process	Amyloid-beta clearance	IEA
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0099172	Process	Presynapse organization	IEA
GO:0099172	Process	Presynapse organization	ISS

Other IDs

• MIM: 113995
• HGNC: 1338
• e!Ensembl: ENSG00000197405

Protein

• UniProt ID: P21730
• Protein name: C5a anaphylatoxin chemotactic receptor 1 (C5a anaphylatoxin chemotactic receptor) (C5a-R) (C5aR) (CD antigen CD88)
• Protein function: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a (PubMed:10636859, PubMed:15153520, PubMed:1847994, PubMed:29300009, PubMed:7622471, PubMed:8182049, PubMed:9553099). The ligand interacts with at least two sites on the rece
• PDB: 2K3U, 5O9H, 6C1Q, 6C1R, 7Y64, 7Y65, 7Y66, 7Y67, 8GO8, 8GOO, 8HK5, 8I0N, 8I0Z, 8IA2, 8JZP, 8JZZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	54 → 300	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MDSFNYTTPDYGHYDDKDTLDLNTPVDKTSNTLRVPDILALVIFAVVFLVGVLGNALVVW
  VTAFEAKRTINAIWFLNLAVADFLSCLALPILFTSIVQHHHWPFGGAACSILPSLILLNM
  YASILLLATISADRFLLVFKPIWCQNFRGAGLAWIACAVAWGLALLLTIPSFLYRVVREE
  YFPPKVLCGVDYSHDKRRERAVAIVRLVLGFLWPLLTLTICYTFILLRTWSRRATRSTKT
  LKVVVAVVASFFIFWLPYQVTGIMMSFLEPSSPTFLLLKKLDSLCVSFAYINCCINPIIY
  VVAGQGFQGRLRKSLPSLLRNVLTEESVVRESKSFTRSTVDTMAQKTQAV

• Sequence length: 350

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
C5AR1-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC SHOCK SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30294325		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	16889830		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23394121, 30403186	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37679689	Stimulate	★☆☆☆☆ Found in Text Mining only
AMR Syndrome	Amr syndrome	Pubtator	38128610	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24067070, 28128456, 28571586, 29859100		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33216044	Associate	★☆☆☆☆ Found in Text Mining only
Anaphylaxis	Anaphylaxis	Pubtator	16301808	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	16982920	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	33332020	Associate	★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	10027407	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12070675, 12461081, 19843088, 25324545, 29602515, 31076525		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	25725109	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	29220376	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25725109, 29220376	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	28167912		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29220376		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10973279, 11160252, 15144465, 15278436, 29123203		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	15039137, 16301808		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	16301808	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10349852	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32787365, 40053030	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013, 35919038	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	11422745	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	30910380, 31229026		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	34852172	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24327134, 29138505, 29241626, 29602515, 30655847		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29138505	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	29874282	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	29277896		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	36333281	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	16982920	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	32759504, 34852172, 35309299	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	28504607	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	37308987	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	37308987	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25230890, 26494574, 28228558		★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	30568034		★☆☆☆☆ Found in Text Mining only
Bronchopneumonia	Bronchopneumonia	Pubtator	10027407	Associate	★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	28139294		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	38242312	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35649359	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30300579		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33176600	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23706417, 29327939		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32345771, 34221297, 36883235, 36902242	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29914696		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32927275, 36823662	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	38242312	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	15039137		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	29116124	Stimulate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	19763906		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28923083		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	21102504		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29551360		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35649359, 36192575, 36571232, 38307957	Associate	★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	29874282	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	28707765		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29213128		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25682807		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25924896, 30258440		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25924896, 27025272, 30258440	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	19324972	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10027407	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12070675, 30247799		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	23394121	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	LHGDN	12759460		★☆☆☆☆ Found in Text Mining only
Dermatitis Allergic Contact	Allergic contact dermatitis	Pubtator	16778800	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	11251879	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	9864003	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Contact	Contact dermatitis	Pubtator	16778800	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31624141		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31624141		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	35309299	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29294056, 31624141		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	24265019		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	24265019	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33606748	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	38304433	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	31809505		★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	23420882		★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	24604562, 25200905, 29154963		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	33606748	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	28225753, 29478824		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34576075	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32179921, 36230961	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33059718	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	11422745	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29241626		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	37713183	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	11422745	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	25214719	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	22691190	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	24033923, 30568037		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	30613065		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	28707765	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29213128		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	40053030	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	19657723		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	23113588, 30602374	Stimulate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10506508		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	24265019		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	24265019	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29213128, 29437833, 30134121		★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	28002390		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24958208	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26956419		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	24327134, 28295247, 31134161		★☆☆☆☆ Found in Text Mining only
Immune Complex Diseases	Immune Complex Diseases	BEFREE	10395696		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	36508191	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28923083, 31102496		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	30136682		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37890688	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	11422745, 37862725	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28295247		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29031143, 29594894		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29017823		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30955242	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30955242		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26475622, 7541417		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	23113588	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16301808, 29327939	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29327939		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	16778800	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16778800, 25339666, 26059553	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24902963	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31102496		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	11422745		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	11422745, 36521939	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	19661236, 20484595, 26565031, 26746578	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21762495	Stimulate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28670268		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25230890, 26494574, 28228558		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23706417, 29327939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27756879, 29031586		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23287562, 25682807, 30655847, 31759250		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29551360		★☆☆☆☆ Found in Text Mining only
Mannose-Binding Protein Deficiency	Mannose-Binding Protein Deficiency	BEFREE	10452765		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	12542483	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31298935		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	11422745		★☆☆☆☆ Found in Text Mining only
Mesangial sclerosis diffuse	Diffuse mesangial sclerosis	Pubtator	11422745	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28707765	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	38218802	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	20875134, 29990379		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	34799616	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29685955		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29685955	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23028051, 23226093, 26494574, 27756879, 28228558, 28932632, 29031586, 29118090, 29551360, 31298935		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	11422745	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	11422745		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	23420882		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10549816		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26059553	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29990379, 30953275		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	9507227	Stimulate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23706417, 29773900		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	22651932		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37890688	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35406699, 38242312	Associate	★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	29327939	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23226093		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32316695, 36722270, 37791232, 40225866	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33216044	Inhibit	★☆☆☆☆ Found in Text Mining only
Pemphigoid, Benign Mucous Membrane	Mucous membrane pemphigoid	BEFREE	28456612		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	23505434	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	31211854	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	38218802	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36293087	Associate	★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	29116124		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29300009, 31447855		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26956419		★☆☆☆☆ Found in Text Mining only
Pyogenic granuloma	Pyogenic granuloma	BEFREE	10027407		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25682807		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	17389734, 28903945, 29935951		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	26565031	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24265019		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	24265019	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16962629		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12070675, 29220376, 29300009		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17804836		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	19077082	Associate	★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	31795786		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	11160252, 15784721, 25726869, 27931779, 28952876, 29232196, 29362231, 29914696, 31274379		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	10027407	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31447855		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33606748	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30300576		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	30258440		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28225153		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27756879, 29031586		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27756879, 36508191, 38425243	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31811640		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	16879222, 20424189	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	30910380		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	33606748	Stimulate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	31795786		★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	CTD_human_DG	18063050		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	34852172	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	22691190	Inhibit	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	28400446		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	30136682		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	33059718	Associate	★☆☆☆☆ Found in Text Mining only