TF (transferrin)

Gene

• Entrez ID: 7018
• Gene name: Transferrin
• Gene symbol: TF
• Synonyms (NCBI Gene): HEL-S-71p, PRO1557, PRO2086, TFQTL1
• Chromosome: 3
• Chromosome location: 3q22.1
• Summary: This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one io

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1049296	C>G,T	Association, risk-factor, benign	Coding sequence variant, missense variant
rs8177291	T>-	Likely-pathogenic	Intron variant
rs41295774	A>G	Pathogenic, benign, uncertain-significance	Coding sequence variant, missense variant
rs121918676	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918677	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121918678	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918679	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs121918680	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918681	G>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs773139494	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018601	hsa-miR-335-5p	Microarray	18185580
MIRT053165	hsa-miR-19a-3p	Luciferase reporter assay, qRT-PCR, Western blot	23666757
MIRT053165	hsa-miR-19a-3p	Luciferase reporter assay, qRT-PCR, Western blot	23666757
MIRT736526	hsa-miR-92a-3p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	32901851
MIRT2348054	hsa-miR-183	CLIP-seq
MIRT2348055	hsa-miR-3065-3p	CLIP-seq
MIRT2348056	hsa-miR-3187-3p	CLIP-seq
MIRT2348057	hsa-miR-4291	CLIP-seq
MIRT2348058	hsa-miR-4529-5p	CLIP-seq
MIRT2348059	hsa-miR-663b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DDIT3	Unknown	12939601
NFKB1	Activation	12744731
NFKB1	Unknown	22119392
RELA	Activation	12744731
RELA	Unknown	22119392
SP1	Unknown	8548503
TFCP2	Activation	20796026
YY1	Unknown	8548503

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	14691533, 15880641, 16271884, 16354665, 19664057, 20404192, 21788477, 22327295, 22343719, 29302006, 32296183
GO:0005576	Component	Extracellular region	IDA	9990067
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IGI	18353247
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 22664934, 23580065
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	37277838
GO:0005615	Component	Extracellular space	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IBA
GO:0005769	Component	Early endosome	IDA	15880641
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IDA	15880641
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005905	Component	Clathrin-coated pit	IDA	12857860
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006826	Process	Iron ion transport	IBA
GO:0006826	Process	Iron ion transport	IDA	9465039
GO:0006826	Process	Iron ion transport	IEA
GO:0006826	Process	Iron ion transport	IEA
GO:0006826	Process	Iron ion transport	IGI	18353247
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IGI	18353247
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	9465039
GO:0008198	Function	Ferrous iron binding	IDA	18353247
GO:0008199	Function	Ferric iron binding	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0009925	Component	Basal plasma membrane	IDA	15880641
GO:0009986	Component	Cell surface	IDA	16195351
GO:0010008	Component	Endosome membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	11208127
GO:0019731	Process	Antibacterial humoral response	IBA
GO:0019899	Function	Enzyme binding	IPI	37277838
GO:0030139	Component	Endocytic vesicle	IDA	15229288, 15292400
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IDA	12857860
GO:0031647	Process	Regulation of protein stability	TAS	25635054
GO:0031982	Component	Vesicle	IDA	18353773
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	37277838
GO:0034774	Component	Secretory granule lumen	TAS
GO:0034986	Function	Iron chaperone activity	IDA	18353247
GO:0044325	Function	Transmembrane transporter binding	IPI	37277838
GO:0045178	Component	Basal part of cell	IDA	15880641
GO:0046872	Function	Metal ion binding	IEA
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IDA	12704209
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IGI	18353247
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15880641, 20202662
GO:0055037	Component	Recycling endosome	IBA
GO:0055037	Component	Recycling endosome	IDA	15880641
GO:0055037	Component	Recycling endosome	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IDA	26642240
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IMP	11113131
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071281	Process	Cellular response to iron ion	IGI	18353247
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1903988	Process	Iron ion export across plasma membrane	ISS
GO:1990459	Function	Transferrin receptor binding	IPI	9546397, 18353247, 29388418
GO:1990459	Function	Transferrin receptor binding	TAS	9465039
GO:1990712	Component	HFE-transferrin receptor complex	IDA	9546397

Other IDs

• MIM: 190000
• HGNC: 11740
• e!Ensembl: ENSG00000091513

Protein

• UniProt ID: P02787
• Protein name: Serotransferrin (Transferrin) (Beta-1 metal-binding globulin) (Siderophilin)
• Protein function: Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those
• PDB: 1A8E, 1A8F, 1B3E, 1BP5, 1BTJ, 1D3K, 1D4N, 1DTG, 1FQE, 1FQF, 1JQF, 1N7W, 1N7X, 1N84, 1OQG, 1OQH, 1RYO, 1SUV, 2HAU, 2HAV, 2O7U, 2O84, 3FGS, 3QYT, 3S9L, 3S9M, 3S9N, 3SKP, 3V83, 3V89, 3V8X, 3VE1, 4H0W, 4X1B, 4X1D, 5DYH, 5H52, 5WTD, 5X5P, 5Y6K, 6CTC, 6D03, 6D04, 6D05, 6JAS, 6SOY, 6SOZ, 6UJ6, 7FFM, 7FFU, 7Q1L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00405	Transferrin	25 → 347	Transferrin	Domain
  PF00405	Transferrin	361 → 683	Transferrin	Domain

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

  MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVK
  KASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVVAEFYGSKEDPQTFYYAVAVV
  KKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPC
  ADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVKHSTIFENLANKADRD
  QYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKE
  FQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKP
  VKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGK
  CGLVPVLAENYNKSDNCEDTPEAGYFAIAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWN
  IPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAF
  RCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLAR
  APNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKL
  HDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP

• Sequence length: 698

Pathways

KEGG:

HIF-1 signaling pathway
Ferroptosis
TGF-beta signaling pathway
Mineral absorption

Reactome:

Platelet degranulation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Post-translational protein phosphorylation
Iron uptake and transport
Transferrin endocytosis and recycling

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
Atransferrinemia	Likely pathogenic; Pathogenic	rs2107925842, rs773139494, rs2530589860, rs121918679, rs121918681	RCV002274256 RCV000202418 RCV000013454 RCV000013455 RCV000013456	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transferrin variant Bv	Pathogenic	rs121918678	RCV000013453	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transferrin variant D1	Pathogenic	rs121918676	RCV000013448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HYPOCHROMIC MICROCYTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PERSISTENT HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRANSFERRINEMIA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMOCHROMATOSIS TYPE 1	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron deficiency anemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON OVERLOAD	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER SPECIFIED IRON DEFICIENCY ANEMIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TF*C2	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TF-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transferrin variant B2	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transferrin variant D(Chi)	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	15060098, 17192785		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	2582441		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	28885000		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	2582441		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	19381893		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	15956653		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25691058	Associate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	7643997		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16639025, 21422745, 23089144		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15060098, 15975770, 16930371, 17047092, 20029940, 20796026, 22232349, 24756957, 32517787, 33115695	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	6427297	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	15060098, 17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	12951205		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	15060098, 17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	15060098, 17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	15060098, 17192785		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942, 9879772		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31622403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	32235485, 36778054, 8317485	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic	Hemolytic anemia	Pubtator	31622403	Associate	★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	39531753	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	34795732, 34883086	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	24015209	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28535888	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31380560	Associate	★☆☆☆☆ Found in Text Mining only
Asthma Occupational	Asthma	Pubtator	20345975	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	32496505	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26290361	Inhibit	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31936202	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	15363659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	29665075	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	21491373, 34559910, 39676317	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29573137	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	LHGDN	18067952		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	19066835, 28122295, 29916012, 7643997		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12459033		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33633284, 36541716	Associate	★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	17593624	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	16316942, 9879772		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10771090, 19828835, 20576915, 24283668, 36959410	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31118613		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942, 9879772		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	15302000	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	11040018, 29540862	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	36778054	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	7643997		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	7643997		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	26774260, 28671021	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31569686		★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis	Chondrocalcinosis	Pubtator	24467728	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	33410528	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	22871034	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	18621559		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29427759		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32517787	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16755300, 36136589	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atransferrinemia	Congenital Atransferrinemia	GENOMICS_ENGLAND_DG	10660486, 11110675, 1862777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atransferrinemia	Congenital Atransferrinemia	UNIPROT_DG	11110675, 15466165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atransferrinemia	Congenital Atransferrinemia	CTD_human_DG	11110675, 12111369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atransferrinemia	Congenital atransferrinemia	Pubtator	11110675, 25486930, 29573137, 8317485	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atransferrinemia	Congenital Atransferrinemia	CLINVAR_DG	11920219, 17768112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atransferrinemia	Congenital Atransferrinemia	BEFREE	18097132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atransferrinemia	Congenital Atransferrinemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atransferrinemia	Congenital Atransferrinemia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atransferrinemia	Congenital Atransferrinemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31569686		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	29203958		★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	11583570, 21431619, 26335155, 28216230	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	10642597, 11106564, 11134235, 11733564, 19288450, 22305527, 23249953, 25966638, 26264460, 26335155, 28216230, 28236367, 33644825, 33667052, 34246313, 34486878, 36959410	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	30397276		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27118092, 28684612, 33299376	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	18344013		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23176785	Stimulate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	17047092	Associate	★☆☆☆☆ Found in Text Mining only
Dent Disease	Dent disease	Pubtator	23572577	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33410528	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	18597674	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20032277, 23801727, 33587339, 33787609	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	18092746, 23801727	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24953981, 29079528, 32922172	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34147035	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	16538641		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29079528		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32922172	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	24350254		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	19108832, 22678011	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	9466567	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia Familial	Dysautonomia	Pubtator	28276324	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11254788, 33655641	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	33410528	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	24350254	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	15060098, 17192785		★☆☆☆☆ Found in Text Mining only
Familial apoceruloplasmin deficiency	Apoceruloplasmin deficiency	Pubtator	32235485	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	19703762	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	15634182, 18720534	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	CTD_human_DG	20008134, 21907177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	29427759		★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	24350254		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	24350254	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25891893, 29522834		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35710828	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25374033, 25891893, 29522834		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28687044, 29088799, 30394123, 30474437, 30582685		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36541716	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	17242005	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	29523019	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	28158993	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	28236367, 33734437, 35279850	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	39345879	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	35846879	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	8317485	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	15302000	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	10471457, 10673305, 10764716, 10986220, 11040018, 11090050, 11254788, 12542499, 12637325, 14740507, 15302000, 15671444, 16103117, 17108759, 17976429, 18720534, 20337854, 21426887, 25314357, 25457201, 26365338, 2773939, 29388418, 30341355, 31090790, 32143980, 33233908, 33787609, 34440336, 6593112	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	15698609, 21514009, 21689013		★☆☆☆☆ Found in Text Mining only
Hemochromatosis type 4	Hemochromatosis	Pubtator	16258219	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	15698609, 21514009, 21689013		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	GWASCAT_DG	25457201		★☆☆☆☆ Found in Text Mining only
Hemosiderosis	Hemosiderosis	Pubtator	24059653	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	33593348	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	32532356	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	32532356	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	32532356	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	15956653, 6319515		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	GWASCAT_DG	25457201		★☆☆☆☆ Found in Text Mining only
HFE-Associated Hereditary Hemochromatosis	Hemochromatosis	GWASCAT_DG	25457201		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	19752198, 26471164	Associate	★☆☆☆☆ Found in Text Mining only
Hyperferritinemia	Hyperferritinemia	Pubtator	16258219, 31090790	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29079528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	6087331	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	35327592	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	26099594	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	29425155	Associate	★☆☆☆☆ Found in Text Mining only
Hypochromic anemia	Hypochromic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	28118841		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	29301248	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18419598, 19139726	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31051082	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	37892144	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30099506, 32323743, 34836106	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	34559910	Stimulate	★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	12870058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Metabolism Disorders	Iron Metabolism Disorders	GWASCAT_DG	25457201		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	CTD_human_DG	11110675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron overload	Pubtator	11254788, 12077102, 12357453, 12377814, 15671444, 15858186, 17589946, 17976429, 18007147, 18073584, 18720534, 20337854, 23801727, 24059653, 24339903, 25706573, 30389309, 32680469, 33596964, 35229939, 39202328, 39617311, 9446671	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Keratoconus	BEFREE	24350254		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	24350254	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	32922172	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	28885000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh syndrome	Pubtator	34246313	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1608289, 2413049		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19852511, 2984253, 6280171	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	2984253	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19852511	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	11750985		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26576089		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29427759		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29665075, 33787609	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	15671444, 29665075	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	14740507, 33593348	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	10403746, 23657305	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	15671444	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18257091		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30640897	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22871034	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	26762103	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21422745, 31075224, 39519580	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26818092		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28122295		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12459033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31118613		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25393578		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24910874		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15827336, 20346225, 25265318, 2582441, 28065783, 30065196, 31654226		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	26241963	Associate	★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	31398886	Inhibit	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	7643997		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	2419904		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33203734	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26818092	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	18720534, 25914390	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	18720534	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25914390	Stimulate	★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	CTD_human_DG	11110675		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24121126	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	25517032, 35682458, 37715818	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31340676		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11497259, 19308738, 20971503, 30534071, 31569686, 31789393, 7643997		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	28158993	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	CTD_human_DG	17178036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32143980	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29466707		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19308738		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	25914390	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	30099506	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Hip	Osteoarthritis	Pubtator	36145059	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	36145059	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	32964764	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25016976, 30065196	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25393578		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25393578	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	18307987		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	CTD_human_DG	22633222		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	16047113		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24121126, 38178798	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	30341355	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32323743	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	37435906	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	10688809	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	2582441		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	15060098, 17192785		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 2	Hyperoxaluria	Pubtator	22304929	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24910874		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28592703	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	11967015	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24789352	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	CTD_human_DG	16930377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	21398376, 22929029	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	21570342	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	26597663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	39519580	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12175089		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	20066543	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	21643746		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17496814, 18045615, 21643746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17496814, 18045615, 21643746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18045615, 19110265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	25233840	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	2839550	Associate	★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	33410528	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	20008134, 21907177		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12923326	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30571402	Inhibit	★☆☆☆☆ Found in Text Mining only
Substance Withdrawal Syndrome	Substance abuse	Pubtator	35229939	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	26502166		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	37435906	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12819023		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28848040		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942, 9879772		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29963784	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	26099594	Associate	★☆☆☆☆ Found in Text Mining only