ABCG1 (ATP binding cassette subfamily G member 1)

Gene

• Entrez ID: 9619
• Gene name: ATP binding cassette subfamily G member 1
• Gene symbol: ABCG1
• Synonyms (NCBI Gene): ABC8, WHITE1
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054154	hsa-miR-129-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25344911
MIRT054154	hsa-miR-129-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25344911
MIRT054228	hsa-miR-128-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23990020
MIRT735152	hsa-miR-320b	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), in vitro cullelar assays, qRT-PCR	33536383
MIRT735152	hsa-miR-320b	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	33536383
MIRT759196	hsa-miR-10a	CLIP-seq
MIRT759197	hsa-miR-10b	CLIP-seq
MIRT759198	hsa-miR-3140-5p	CLIP-seq
MIRT759199	hsa-miR-3973	CLIP-seq
MIRT759200	hsa-miR-4291	CLIP-seq
MIRT759201	hsa-miR-4501	CLIP-seq
MIRT759202	hsa-miR-545	CLIP-seq
MIRT759203	hsa-miR-548l	CLIP-seq
MIRT759204	hsa-miR-548m	CLIP-seq
MIRT759205	hsa-miR-1226	CLIP-seq
MIRT759206	hsa-miR-1229	CLIP-seq
MIRT759207	hsa-miR-1301	CLIP-seq
MIRT759208	hsa-miR-1913	CLIP-seq
MIRT759209	hsa-miR-3149	CLIP-seq
MIRT759210	hsa-miR-3189-5p	CLIP-seq
MIRT759211	hsa-miR-324-3p	CLIP-seq
MIRT759212	hsa-miR-342-3p	CLIP-seq
MIRT759213	hsa-miR-3915	CLIP-seq
MIRT759214	hsa-miR-3928	CLIP-seq
MIRT759215	hsa-miR-4536	CLIP-seq
MIRT759216	hsa-miR-4660	CLIP-seq
MIRT759217	hsa-miR-4684-3p	CLIP-seq
MIRT759218	hsa-miR-4727-5p	CLIP-seq
MIRT759219	hsa-miR-4733-3p	CLIP-seq
MIRT759220	hsa-miR-4758-3p	CLIP-seq
MIRT759221	hsa-miR-5047	CLIP-seq
MIRT759222	hsa-miR-568	CLIP-seq
MIRT759223	hsa-miR-671-5p	CLIP-seq
MIRT759224	hsa-miR-942	CLIP-seq
MIRT759225	hsa-miR-297	CLIP-seq
MIRT759226	hsa-miR-3686	CLIP-seq
MIRT759227	hsa-miR-4282	CLIP-seq
MIRT759215	hsa-miR-4536	CLIP-seq
MIRT759228	hsa-miR-4742-3p	CLIP-seq
MIRT759229	hsa-miR-4778-5p	CLIP-seq
MIRT759230	hsa-miR-567	CLIP-seq
MIRT1923772	hsa-miR-3163	CLIP-seq
MIRT1923773	hsa-miR-4457	CLIP-seq
MIRT1923774	hsa-miR-513b	CLIP-seq
MIRT759205	hsa-miR-1226	CLIP-seq
MIRT759207	hsa-miR-1301	CLIP-seq
MIRT759216	hsa-miR-4660	CLIP-seq
MIRT759217	hsa-miR-4684-3p	CLIP-seq
MIRT759219	hsa-miR-4733-3p	CLIP-seq
MIRT759221	hsa-miR-5047	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR1H2	Activation	16141411
NR1H3	Activation	16141411;18580406

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	16870176, 24576892, 27228027, 32296183, 32814053
GO:0005524	Function	ATP binding	IDA	16702602
GO:0005524	Function	ATP binding	IEA
GO:0005543	Function	Phospholipid binding	IC	16702602
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	22042635
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	HDA	16780588
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16702602, 24576892
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008203	Process	Cholesterol metabolic process	IDA	15994327
GO:0009897	Component	External side of plasma membrane	IDA	16556852
GO:0009897	Component	External side of plasma membrane	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	TAS	18490524
GO:0010875	Process	Positive regulation of cholesterol efflux	IEA
GO:0010887	Process	Negative regulation of cholesterol storage	TAS	18490524
GO:0010888	Process	Negative regulation of lipid storage	IEA
GO:0015485	Function	Cholesterol binding	IC	15994327
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019534	Function	Toxin transmembrane transporter activity	IDA	17408620
GO:0030301	Process	Cholesterol transport	IEA
GO:0032367	Process	Intracellular cholesterol transport	IMP	15994327
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IDA	15994327
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033344	Process	Cholesterol efflux	IMP	16702602, 24576892
GO:0033700	Process	Phospholipid efflux	IMP	16702602
GO:0033993	Process	Response to lipid	IDA	16556852
GO:0034041	Function	ABC-type sterol transporter activity	IBA
GO:0034041	Function	ABC-type sterol transporter activity	IDA	17408620
GO:0034204	Process	Lipid translocation	IEA
GO:0034374	Process	Low-density lipoprotein particle remodeling	IEA
GO:0034374	Process	Low-density lipoprotein particle remodeling	ISS	16556852
GO:0034375	Process	High-density lipoprotein particle remodeling	IEA
GO:0034375	Process	High-density lipoprotein particle remodeling	ISS	16556852
GO:0034436	Process	Glycoprotein transport	IDA	17293612
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IDA	15994327
GO:0042632	Process	Cholesterol homeostasis	IEP	11500512
GO:0042803	Function	Protein homodimerization activity	IDA	16702602, 16870176
GO:0042987	Process	Amyloid precursor protein catabolic process	IDA	17293612
GO:0043531	Function	ADP binding	IDA	16702602
GO:0043691	Process	Reverse cholesterol transport	IEA
GO:0043691	Process	Reverse cholesterol transport	ISS
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IEA
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	ISS
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050714	Process	Positive regulation of protein secretion	IDA	17293612
GO:0055037	Component	Recycling endosome	IEA
GO:0055037	Component	Recycling endosome	ISS	16556852
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055091	Process	Phospholipid homeostasis	IMP	16702602
GO:0071403	Process	Cellular response to high density lipoprotein particle stimulus	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	ISS	16556852
GO:0090554	Function	Phosphatidylcholine floppase activity	IDA	16702602
GO:0120020	Function	Cholesterol transfer activity	IDA	15994327
GO:0140328	Function	Floppase activity	IDA	16702602, 24576892
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1902004	Process	Positive regulation of amyloid-beta formation	IDA	17293612
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	TAS	25344911

Other IDs

• MIM: 603076
• HGNC: 73
• e!Ensembl: ENSG00000160179

Protein

• UniProt ID: P45844
• Protein name: ATP-binding cassette sub-family G member 1 (EC 7.6.2.-) (ATP-binding cassette transporter 8) (White protein homolog)
• Protein function: Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrolysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-
• PDB: 7FDV, 7OZ1, 7R8C, 7R8D, 7R8E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00005	ABC_tran	101 → 245	ABC transporter	Domain
  PF19055	ABC2_membrane_7	274 → 346	ABC-2 type transporter	Family
  PF01061	ABC2_membrane	403 → 614	ABC-2 type transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in several tissues. Expressed in macrophages; expression is increased in macrophages from patients with Tangier disease. {ECO:0000269|PubMed:11350058}.
• Sequence:

  MACLMAAFSVGTAMNASSYSAEMTEPKSVCVSVDEVVSSNMEATETDLLNGHLKKVDNNL
  TEAQRFSSLPRRAAVNIEFRDLSYSVPEGPWWRKKGYKTLLKGISGKFNSGELVAIMGPS
  GAGKSTLMNILAGYRETGMKGAVLINGLPRDLRCFRKVSCYIMQDDMLLPHLTVQEAMMV
  SAHLKLQEKDEGRREMVKEILTALGLLSCANTRTGSLSGGQRKRLAIALELVNNPPVMFF
  DEPTSGLDSASCFQVVSLMKGLAQGGRSIICTIHQPSAKLFELFDQLYVLSQGQCVYRGK
  VCNLVPYLRDLGLNCPTYHNPADFVMEVASGEYGDQNSRLVRAVREGMCDSDHKRDLGGD
  AEVNPFLWHRPSEEVKQTKRLKGLRKDSSSMEGCHSFSASCLTQFCILFKRTFLSIMRDS
  VLTHLRITSHIGIGLLIGLLYLGIGNEAKKVLSNSGFLFFSMLFLMFAALMPTVLTFPLE
  MGVFLREHLNYWYSLKAYYLAKTMADVPFQIMFPVAYCSIVYWMTSQPSDAVRFVLFAAL
  GTMTSLVAQSLGLLIGAASTSLQVATFVGPVTAIPVLLFSGFFVSFDTIPTYLQWMSYIS
  YVRYGFEGVILSIYGLDREDLHCDIDETCHFQKSEAILRELDVENAKLYLDFIVLGIFFI
  SLRLIAYFVLRYKIRAER

• Sequence length: 678

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
ABCG1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31037158		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24393350, 29977615, 30185655		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17387528, 31167810, 32925069	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27196068, 29468564		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23462326		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18599800, 19556716, 22062970, 22155456, 22614118, 24972087, 25890853, 26323267, 27374487, 27482882, 28478047, 28869506, 29045950, 29298513, 29678642, 29710032, 30041636, 30393020, 30528268, 30938872, 31159502, 31409515, 31437479, 31790366		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18599800, 19556716, 22062970, 22155456, 22614118, 24972087, 25890853, 26323267, 27374487, 27482882, 28478047, 28869506, 29045950, 29298513, 29678642, 29710032, 30041636, 30393020, 30528268, 30938872, 31159502, 31409515, 31437479, 31790366		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	18599800		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19287193, 19556716, 20057170, 20733269, 20871621, 22363809, 25935004, 31823830, 33263223	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11673795		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	26433762		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16214912, 23629941, 23832257, 23912956, 31432185		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31432185, 36782224	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28588672		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33825659	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40520894	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37507725	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17408620, 28213390, 28869506, 31823830, 31831519		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	17408620		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28213390, 31823830, 34461069, 35652342	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	31589004	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31823830	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25890853		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31612028		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	27773939	Associate	★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	22862945		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29995422		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21892003, 32814794	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31612028		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19556716, 21722899		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19556716, 21722899, 24972087, 28554988, 31555535		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	19556716, 26153245, 34837967, 35866398, 39614436	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33263223	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	25084356, 37507725	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19556716, 21722899, 25084356, 28577936		★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	19556716	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30977450		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25084356, 28869506, 30495987		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24768178, 25084356, 28869506, 30495987		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25084356, 26095709, 27019061, 27148772, 31169416, 36529747, 37770056	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18490524, 23139370	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23139370, 26095709, 26101197, 27148772, 31169416, 32925069, 40225014	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18490524, 18640393, 23139370, 26095709, 26101197, 27148772, 31169416		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	18490524		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	17293612, 19783846		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	17293612		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	GWASCAT_DG	26433762		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30977450		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	27787563		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	26945479		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	21892003	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	24393350		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	22179738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	26095709	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37507725	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	26462087	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	20395595		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	27777315, 35866398	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	33028190	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	21527752		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25084356	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31823830		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	34837967	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	11279031	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	30835274	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31629012		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29132227		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29995422		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	36782224, 37891690	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25890853, 31823830		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	19878707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26462087	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	26352872		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	28630870		★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	16887795		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	17848583, 28264879		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32277808	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	11673795		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	11673795		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	11673795		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	11673795		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	11673795		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	11673795		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	11673795		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16214912, 23629941, 23832257, 23912956, 31432185		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28588672		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19531574, 26459268		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28588672		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28293855, 29069761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	21159167		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	32410704	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19287193, 26798409, 29643945, 30255772, 31796056, 34780523	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31172973	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26798409, 31172973, 31796056		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	11093066		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	22297602	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	25246735	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	22862945		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21722899, 22155456, 25583993		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	25583993, 33413638	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	22155456		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	15349865		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28982861, 30364132		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17408620	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	26352872		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26945479		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26757251, 28588672		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25249572, 28869506		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26153245, 27773939, 31172973, 32410704, 33413638	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30910588		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26462087	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	24706167		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	24706167	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	24706167		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30977450		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19531574, 26459268		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26459268	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	17848583, 21036914		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	LHGDN	17848583		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25409201		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	26641802		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31189171		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	26352872		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28301372		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39675233	Associate	★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	11350058		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31432185		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31432185	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	18490524		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	18490524	Associate	★☆☆☆☆ Found in Text Mining only