BMP6 (bone morphogenetic protein 6)

Gene

• Entrez ID: 654
• Gene name: Bone morphogenetic protein 6
• Gene symbol: BMP6
• Synonyms (NCBI Gene): IO, VGR, VGR1
• Chromosome: 6
• Chromosome location: 6p24.3
• Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022919	hsa-miR-124-3p	Microarray	18668037
MIRT438480	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT438480	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT736674	hsa-miR-765	Luciferase reporter assay, Western blotting, qRT-PCR	32059748
MIRT822483	hsa-miR-320e	CLIP-seq
MIRT822484	hsa-miR-3591-3p	CLIP-seq
MIRT822485	hsa-miR-4477a	CLIP-seq
MIRT822486	hsa-miR-4729	CLIP-seq
MIRT822487	hsa-miR-944	CLIP-seq
MIRT822485	hsa-miR-4477a	CLIP-seq
MIRT2181837	hsa-miR-3714	CLIP-seq
MIRT2181838	hsa-miR-3919	CLIP-seq
MIRT2181839	hsa-miR-3925-5p	CLIP-seq
MIRT2181840	hsa-miR-4724-5p	CLIP-seq
MIRT2181841	hsa-miR-548m	CLIP-seq
MIRT2181842	hsa-miR-589	CLIP-seq
MIRT2181837	hsa-miR-3714	CLIP-seq
MIRT2485493	hsa-miR-4263	CLIP-seq
MIRT2485494	hsa-miR-4799-5p	CLIP-seq
MIRT2485495	hsa-miR-576-5p	CLIP-seq
MIRT2485493	hsa-miR-4263	CLIP-seq
MIRT2485494	hsa-miR-4799-5p	CLIP-seq
MIRT2485495	hsa-miR-576-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001501	Process	Skeletal system development	TAS	8089189
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001654	Process	Eye development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0003323	Process	Type B pancreatic cell development	IDA	11865031
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	30097509, 31800957
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	26582087
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IMP	16886151
GO:0007507	Process	Heart development	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	15516325
GO:0009888	Process	Tissue development	IEA
GO:0010039	Process	Response to iron ion	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	26598555
GO:0014823	Process	Response to activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IDA	18436533
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	18436533, 26598555
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IMP	18326817
GO:0030539	Process	Male genitalia development	IEA
GO:0031666	Process	Positive regulation of lipopolysaccharide-mediated signaling pathway	IEA
GO:0031666	Process	Positive regulation of lipopolysaccharide-mediated signaling pathway	ISS
GO:0031982	Component	Vesicle	IEA
GO:0032026	Process	Response to magnesium ion	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0032349	Process	Positive regulation of aldosterone biosynthetic process	IDA	16527843
GO:0032526	Process	Response to retinoic acid	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043117	Process	Positive regulation of vascular permeability	IDA	26598555
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IDA	18436533
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16527843
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	15516325
GO:0046982	Function	Protein heterodimerization activity	IDA	7811286
GO:0048468	Process	Cell development	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	11865031
GO:0050714	Process	Positive regulation of protein secretion	NAS	15516325
GO:0051094	Process	Positive regulation of developmental process	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0060348	Process	Bone development	IDA	16798745
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	19366699
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IMP	26582087, 28335084, 32464486
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	ISS
GO:0070700	Function	BMP receptor binding	IDA	7811286
GO:0070700	Function	BMP receptor binding	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071281	Process	Cellular response to iron ion	IEA
GO:0071281	Process	Cellular response to iron ion	ISS
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0150005	Component	Enzyme activator complex	IDA	31800957
GO:1902533	Process	Positive regulation of intracellular signal transduction	IDA	26598555
GO:1903392	Process	Negative regulation of adherens junction organization	IDA	26598555
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IDA	26598555
GO:2000860	Process	Positive regulation of aldosterone secretion	IEA

Other IDs

• MIM: 112266
• HGNC: 1073
• e!Ensembl: ENSG00000153162

Protein

• UniProt ID: P22004
• Protein name: Bone morphogenetic protein 6 (BMP-6) (VG-1-related protein) (VG-1-R) (VGR-1)
• Protein function: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes including cartilage and bone formation (PubMed:31019025). Also plays an important role in the regulation of HAMP/hepcidin expression and iron me
• PDB: 2QCW, 2R52, 2R53, 6OMO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	59 → 362	TGF-beta propeptide	Family
  PF00019	TGF_beta	411 → 512	Transforming growth factor beta like domain	Domain

• Sequence:

  MPGLGRRAQWLCWWWGLLCSCCGPPPLRPPLPAAAAAAAGGQLLGDGGSPGRTEQPPPSP
  QSSSGFLYRRLKTQEKREMQKEILSVLGLPHRPRPLHGLQQPQPPALRQQEEQQQQQQLP
  RGEPPPGRLKSAPLFMLDLYNALSADNDEDGASEGERQQSWPHEAASSSQRRQPPPGAAH
  PLNRKSLLAPGSGSGGASPLTSAQDSAFLNDADMVMSFVNLVEYDKEFSPRQRHHKEFKF
  NLSQIPEGEVVTAAEFRIYKDCVMGSFKNQTFLISIYQVLQEHQHRDSDLFLLDTRVVWA
  SEEGWLEFDITATSNLWVVTPQHNMGLQLSVVTRDGVHVHPRAAGLVGRDGPYDKQPFMV
  AFFKVSEVHVRTTRSASSRRRQQSRNRSTQSQDVARVSSASDYNSSELKTACRKHELYVS
  FQDLGWQDWIIAPKGYAANYCDGECSFPLNAHMNATNHAIVQTLVHLMNPEYVPKPCCAP
  TKLNAISVLYFDDNSNVILKKYRNMVVRACGCH

• Sequence length: 513

Pathways

KEGG:

Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway
Ovarian steroidogenesis

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
Premature ovarian failure	Likely pathogenic	rs747427445	RCV001270201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BMP6-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS TYPE 5	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON OVERLOAD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON OVERLOAD, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron overload, susceptibility to	Likely benign; Benign; risk factor	ClinVar ClinGen, ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEUKEMIA-LYMPHOMA, ADULT T-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hemochromatosis	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	18688853		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	23528261		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	18688853		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	CTD_human_DG	18688853		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21703414		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	32153255	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	24263212	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	25121767		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	29434729		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	20008919		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	14558086	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	14558086, 26215036	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19694819	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29767257		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	29682908		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	18072288		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	31276102	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	21605425, 23775772, 23927997	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	31302300		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17574840, 17997862, 18805502, 19308091, 20401668, 21136273, 23674072, 24012720, 24890613, 26751737		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17997862, 20401668, 21283676	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21136273	Inhibit	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	17575215		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	17575215	Inhibit	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	21710445	Inhibit	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	24518599	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20027224, 31685442, 36153321	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18326817, 21863061, 24498236, 31798276	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16175182, 30675259		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34258619	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28775934	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33671013	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36769209	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20665672	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	23927997		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	23927997	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	10627702		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30542109		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	9268099		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial dysplasia	Pubtator	9268099	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22364398, 25227796		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20027224, 22364398, 25227796, 29986714, 31685442	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14676131, 20016212, 23633487		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25902833	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31812227		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	24374139		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	20008919		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29421350		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23609520		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	17374397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	BEFREE	30878675		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16547600, 30539233		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16547600, 30539233		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16547600, 30784225		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30539233		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	17575215		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32524577	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10449605		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22364398	Stimulate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	29767257		★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	32641001	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	21450970		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	CTD_human_DG	19252486, 19252488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	BEFREE	19252488, 26582087, 27046124, 27864295, 31778583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	Pubtator	28335084, 31276102	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis type 5	Hemochromatosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	19252488, 26582087, 27046124, 27864295, 31778583		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	19252486, 20658468, 28694024		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	CTD_human_DG	19252486, 19252488		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	18187665	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	32524577	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	19252486, 19252488, 20658468, 26582087, 26990350, 27046124, 28335084, 29434729, 29695288		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	GENOMICS_ENGLAND_DG	26582087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron overload	Pubtator	28335084, 32464486	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile hemochromatosis	Hemochromatosis	BEFREE	19252488, 27046124		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	36153321	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18688853		★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	23528261	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	18688853		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	36153321	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18326817, 21863061, 22024355, 24498236		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	18326817		★☆☆☆☆ Found in Text Mining only
Localized scleroderma	Scleroderma	BEFREE	30878675		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16175182	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22695536	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17575215, 18688853		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	17575215	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17899540		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17574840, 17997862, 18805502, 19308091, 20401668, 21136273, 23674072, 24012720, 24890613, 26751737		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16175182, 30675259		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11277266, 12539225, 18072288, 23710822, 24185914, 29352019, 9116752, 9331107		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18072288, 22364398, 29254151, 30982140		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17574840, 17879955		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30171260		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36153321	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23609520		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	18949431		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	18949431		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	20573596, 29381686		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24374139		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23775772	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19718049	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19926132, 22086350, 31302300		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	29682908	Associate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	18349123		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25867756		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	36553589	Associate	★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	GWASCAT_DG	23049088		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10449605, 16232348, 17574840, 17997862, 20401668, 21136273, 22364398, 23633487, 23710822, 24012720, 24890613, 25227796, 26751737, 29381686, 30171260, 30675259, 31524275, 9116752		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12820386		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16175182, 30675259		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	16232348, 31524275		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19303468, 20515435	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	20008919		★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	24263212	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30784225		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10627702, 30982140, 9069169		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	11986346, 36153321	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38186569	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	24875397, 28684382, 29544628		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37930517	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	18688853		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	18349123		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	18349123		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11277266, 12539225, 18072288, 23710822, 24185914, 29352019, 9116752, 9331107		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11277266, 24518599, 33509203	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15548695, 18632632, 18931653		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18931653	Stimulate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30230035		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14676131, 23633487, 28775934		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	19543302		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14558086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20008919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	28523310	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	36153321	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19694819		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	19694819	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	30878675		★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	BEFREE	22364398		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	23982860		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30230035		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	25121767	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10449605, 22364398		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	23982860		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	23982860		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30878675		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	21710445		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33671013	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	25902833	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	29682908		★☆☆☆☆ Found in Text Mining only