MSR1 (macrophage scavenger receptor 1)

Gene

• Entrez ID: 4481
• Gene name: Macrophage scavenger receptor 1
• Gene symbol: MSR1
• Synonyms (NCBI Gene): CD204, SCARA1, SR-A, SR-AI, SR-AII, SR-AIII, SRA, phSR1, phSR2
• Chromosome: 8
• Chromosome location: 8p22
• Summary: This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and ha

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41341748	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained, missense variant
rs387906645	G>C	Pathogenic	Coding sequence variant, missense variant
rs772978107	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1554466908	C>G	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT723021	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT723020	hsa-miR-1249-3p	HITS-CLIP	19536157
MIRT723019	hsa-miR-9-5p	HITS-CLIP	19536157
MIRT723018	hsa-miR-323b-5p	HITS-CLIP	19536157
MIRT723017	hsa-miR-410-5p	HITS-CLIP	19536157
MIRT723016	hsa-miR-494-5p	HITS-CLIP	19536157
MIRT723015	hsa-miR-659-3p	HITS-CLIP	19536157
MIRT723021	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT723020	hsa-miR-1249-3p	HITS-CLIP	19536157
MIRT723019	hsa-miR-9-5p	HITS-CLIP	19536157
MIRT723018	hsa-miR-323b-5p	HITS-CLIP	19536157
MIRT723017	hsa-miR-410-5p	HITS-CLIP	19536157
MIRT723016	hsa-miR-494-5p	HITS-CLIP	19536157
MIRT723015	hsa-miR-659-3p	HITS-CLIP	19536157
MIRT1161779	hsa-miR-1265	CLIP-seq
MIRT1161780	hsa-miR-1273f	CLIP-seq
MIRT1161781	hsa-miR-143	CLIP-seq
MIRT1161782	hsa-miR-185	CLIP-seq
MIRT1161783	hsa-miR-2467-3p	CLIP-seq
MIRT1161784	hsa-miR-2964a-5p	CLIP-seq
MIRT1161785	hsa-miR-3165	CLIP-seq
MIRT1161786	hsa-miR-3175	CLIP-seq
MIRT1161787	hsa-miR-3605-5p	CLIP-seq
MIRT1161788	hsa-miR-4258	CLIP-seq
MIRT1161789	hsa-miR-4306	CLIP-seq
MIRT1161790	hsa-miR-433	CLIP-seq
MIRT1161791	hsa-miR-4449	CLIP-seq
MIRT1161792	hsa-miR-4512	CLIP-seq
MIRT1161793	hsa-miR-4644	CLIP-seq
MIRT1161794	hsa-miR-4698	CLIP-seq
MIRT1161795	hsa-miR-4708-5p	CLIP-seq
MIRT1161796	hsa-miR-4770	CLIP-seq
MIRT1161797	hsa-miR-630	CLIP-seq
MIRT1161798	hsa-miR-1270	CLIP-seq
MIRT1161799	hsa-miR-147	CLIP-seq
MIRT1161800	hsa-miR-338-5p	CLIP-seq
MIRT1161801	hsa-miR-3691-5p	CLIP-seq
MIRT1161802	hsa-miR-3911	CLIP-seq
MIRT1161803	hsa-miR-4531	CLIP-seq
MIRT1161804	hsa-miR-4683	CLIP-seq
MIRT1161805	hsa-miR-4752	CLIP-seq
MIRT1161806	hsa-miR-620	CLIP-seq
MIRT1161807	hsa-miR-644	CLIP-seq
MIRT2046411	hsa-miR-3613-3p	CLIP-seq
MIRT2275492	hsa-miR-1206	CLIP-seq
MIRT1161779	hsa-miR-1265	CLIP-seq
MIRT2275493	hsa-miR-1273e	CLIP-seq
MIRT1161780	hsa-miR-1273f	CLIP-seq
MIRT1161781	hsa-miR-143	CLIP-seq
MIRT2275494	hsa-miR-2054	CLIP-seq
MIRT1161783	hsa-miR-2467-3p	CLIP-seq
MIRT1161784	hsa-miR-2964a-5p	CLIP-seq
MIRT2275495	hsa-miR-302f	CLIP-seq
MIRT1161787	hsa-miR-3605-5p	CLIP-seq
MIRT2275496	hsa-miR-3618	CLIP-seq
MIRT1161791	hsa-miR-4449	CLIP-seq
MIRT1161795	hsa-miR-4708-5p	CLIP-seq
MIRT1161796	hsa-miR-4770	CLIP-seq
MIRT2275497	hsa-miR-579	CLIP-seq
MIRT2275498	hsa-miR-934	CLIP-seq
MIRT1161779	hsa-miR-1265	CLIP-seq
MIRT1161780	hsa-miR-1273f	CLIP-seq
MIRT1161781	hsa-miR-143	CLIP-seq
MIRT1161783	hsa-miR-2467-3p	CLIP-seq
MIRT1161784	hsa-miR-2964a-5p	CLIP-seq
MIRT1161787	hsa-miR-3605-5p	CLIP-seq
MIRT1161791	hsa-miR-4449	CLIP-seq
MIRT1161795	hsa-miR-4708-5p	CLIP-seq
MIRT1161796	hsa-miR-4770	CLIP-seq
MIRT2438811	hsa-miR-3908	CLIP-seq
MIRT2438812	hsa-miR-545	CLIP-seq
MIRT2438811	hsa-miR-3908	CLIP-seq
MIRT2438812	hsa-miR-545	CLIP-seq
MIRT2574509	hsa-miR-4481	CLIP-seq
MIRT2574510	hsa-miR-4663	CLIP-seq
MIRT2574511	hsa-miR-4728-3p	CLIP-seq
MIRT2574512	hsa-miR-4745-5p	CLIP-seq
MIRT2574513	hsa-miR-548c-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	9743233
ETS2	Activation	8114743
JUN	Activation	8114743
JUN	Unknown	9743233
SPI1	Unknown	7777517

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IBA
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0005044	Function	Scavenger receptor activity	IEA
GO:0005044	Function	Scavenger receptor activity	TAS	2251254, 11240025
GO:0005515	Function	Protein binding	IPI	17237231, 25416956, 25965346, 31515488, 32296183
GO:0005581	Component	Collagen trimer	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8093617
GO:0006897	Process	Endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006898	Process	Receptor-mediated endocytosis	NAS	2251254
GO:0006898	Process	Receptor-mediated endocytosis	TAS	2251254
GO:0006911	Process	Phagocytosis, engulfment	IEA
GO:0006911	Process	Phagocytosis, engulfment	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IEA
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	ISS	12376530
GO:0010886	Process	Positive regulation of cholesterol storage	IBA
GO:0010886	Process	Positive regulation of cholesterol storage	IEA
GO:0010886	Process	Positive regulation of cholesterol storage	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	2251254
GO:0030169	Function	Low-density lipoprotein particle binding	IBA
GO:0030169	Function	Low-density lipoprotein particle binding	IEA
GO:0030169	Function	Low-density lipoprotein particle binding	ISS	12376530
GO:0030301	Process	Cholesterol transport	IEA
GO:0030301	Process	Cholesterol transport	ISS	12376530
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0034362	Component	Low-density lipoprotein particle	IEA
GO:0034381	Process	Plasma lipoprotein particle clearance	IBA
GO:0034381	Process	Plasma lipoprotein particle clearance	IEA
GO:0034381	Process	Plasma lipoprotein particle clearance	ISS	12376530
GO:0038024	Function	Cargo receptor activity	IEA
GO:0038024	Function	Cargo receptor activity	ISS
GO:0042953	Process	Lipoprotein transport	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0097242	Process	Amyloid-beta clearance	IBA
GO:0097242	Process	Amyloid-beta clearance	IEA
GO:0097242	Process	Amyloid-beta clearance	ISS

Other IDs

• MIM: 153622
• HGNC: 7376
• e!Ensembl: ENSG00000038945

Protein

• UniProt ID: P21757
• Protein name: Macrophage scavenger receptor types I and II (Macrophage acetylated LDL receptor I and II) (Scavenger receptor class A member 1) (CD antigen CD204)
• Protein function: Membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including m
• PDB: 7DPX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03523	Macscav_rec	121 → 169	Macrophage scavenger receptor	Family
  PF01391	Collagen	271 → 335	Collagen triple helix repeat (20 copies)	Repeat
  PF00530	SRCR	353 → 450	Scavenger receptor cysteine-rich domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform I, isoform II and isoform III are expressed in monocyte-derived macrophages. Isoform I and isoform II are expressed in the liver, placenta and brain. {ECO:0000269|PubMed:2251254, ECO:0000269|PubMed:9548586}.
• Sequence:

  MEQWDHFHNQQEDTDSCSESVKFDARSMTALLPPNPKNSPSLQEKLKSFKAALIALYLLV
  FAVLIPLIGIVAAQLLKWETKNCSVSSTNANDITQSLTGKGNDSEEEMRFQEVFMEHMSN
  MEKRIQHILDMEANLMDTEHFQNFSMTTDQRFNDILLQLSTLFSSVQGHGNAIDEISKSL
  ISLNTTLLDLQLNIENLNGKIQENTFKQQEEISKLEERVYNVSAEIMAMKEEQVHLEQEI
  KGEVKVLNNITNDLRLKDWEHSQTLRNITLIQGPPGPPGEKGDRGPTGESGPRGFPGPIG
  PPGLKGDRGAIGFPGSRGLPGYAGRPGNSGPKGQKGEKGSGNTLTPFTKVRLVGGSGPHE
  GRVEILHSGQWGTICDDRWEVRVGQVVCRSLGYPGVQAVHKAAHFGQGTGPIWLNEVFCF
  GRESSIEECKIRQWGTRACSHSEDAGVTCTL

• Sequence length: 451

Pathways

KEGG:

Phagosome

Reactome:

Scavenging by Class A Receptors

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
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA	Pathogenic	rs387906645	RCV000022646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs753739746, rs35175081, rs766853465, rs1205685022	RCV003154764 RCV003154775 RCV003154784 RCV003154787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett esophagus	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PROSTATE CANCER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MSR1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Alport syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	17945237		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	22763563		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24604828		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28321517, 30089583, 30257286		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29290263, 29850577, 30089583, 30605235		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	31177112		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24604828		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	25454106	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	38181310	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	12238639, 19715475, 23744990, 29032172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	29176061		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12238639, 19715475, 23744990, 29032172		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27377074, 29205690		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	21791690		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Barrett Esophagus	Barrett esophagus	Pubtator	21791690	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Barrett Esophagus	Barrett esophagus	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Barrett Esophagus	Barrett esophagus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	17768178, 18566991		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26001293		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	29509840		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12565891, 17903305, 28574667, 31799941		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17903305, 28574667, 28639912, 29509840	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31799941	Stimulate	★☆☆☆☆ Found in Text Mining only
Brody myopathy	Brody Myopathy	BEFREE	15469975		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26001293		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22878280, 29731913		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24839953	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17911344	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23154550, 31773684	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	35205232	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30988713		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28394332, 29205690		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	24604828		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24498098, 29731913		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15493872, 16144911		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	28332881		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	28332881		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23739627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	BEFREE	28272106		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	37632192	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26556343		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	23648122	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23648122, 25620088	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	21791690		★☆☆☆☆ Found in Text Mining only
Familial prostate cancer	Prostate Cancer	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30506802		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31140757	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34713474	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30506802		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31140757		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31140757, 33059718, 34713474	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	12244320, 12471593, 14614006, 15042613		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	31714922	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	28332881		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35205232	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26991533		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34713474	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24278429		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24278429	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33604393	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19667111	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	28590017		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28394332		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	19878707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	21596859		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	29562615	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21280004	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	39224582	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23648122, 28639912	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12565891, 17903305, 28574667, 31799941		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22878280, 29731913		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12244320, 12471593, 12594535, 12839931, 12958598, 14614006, 14695991, 15042613, 15734964, 15824169, 16114055, 16287155, 16425212, 16598737, 16607388, 16648113, 17627168, 17768178, 17903305, 18398045, 18436282, 20086112, 22330138, 22878280, 22896667, 23141781, 26225686, 26251261, 27318894, 28317149, 29137340, 29509840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16998812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26001293		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14614006, 22878280, 23880163, 26711928, 27425378, 29509840, 30527194, 31140757, 31238111		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11103781		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	16114055		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21596859		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11103781, 18566991, 20086112, 21496237, 21596859, 22896667, 22911764, 23154550, 23447685, 23648122, 26001293, 26711928, 27425378, 27694140, 28321517, 28767130, 29110840, 29137340, 29850577, 30089583, 30257286, 31081057, 31140757, 31177112, 31445355, 31799941		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27425378		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30175511		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Barrett esophagus	Barrett esophagus	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30089583		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37876933	Associate	★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	12471593, 35286517	Associate	★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	ORPHANET_DG	12244320, 23141781		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	12471593, 12958598, 14614006, 15042613, 15535435, 16267836, 16287155, 23141781		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	GENOMICS_ENGLAND_DG	28031937		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12244320, 12471593, 12594535, 12839931, 12958598, 14614006, 14695991, 15042613, 15045584, 15734964, 15824169, 16114055, 16287155, 16425212, 16598737, 16607388, 16648113, 17627168, 17768178, 17903305, 18398045, 18436282, 20086112, 22330138, 22878280, 22896667, 23141781, 26225686, 26251261, 27318894, 28317149, 29137340, 29509840		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12244320, 12471593, 12839931, 14695991, 15042613, 16114055, 17768178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12471593, 17903305, 18436282, 26251261, 28317149, 29509840, 33509203, 35286517	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16998812		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20086112	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	33604393	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	17361499, 20081102	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24278429		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	24278429	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	30744943		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26781568		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26781568, 36338669	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa 11	Retinitis pigmentosa	Pubtator	34680937	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34857772	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31773684		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23648122, 25620088		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28496107, 34502382	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	23154550		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26182300, 36095948, 36484990, 38175202	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	38181310	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31397878		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29562615		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	31597477		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39776914	Associate	★☆☆☆☆ Found in Text Mining only
Ulcer of esophagus	Ulcer Of Esophagus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	37537391	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	33059718	Associate	★☆☆☆☆ Found in Text Mining only