GDF2 (growth differentiation factor 2)

Gene

• Entrez ID: 2658
• Gene name: Growth differentiation factor 2
• Gene symbol: GDF2
• Synonyms (NCBI Gene): BMP-9, BMP9, HHT5
• Chromosome: 10
• Chromosome location: 10q11.22
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35129734	C>A,T	Pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs139568056	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, terminator codon variant
rs199804679	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs200330818	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1015721	hsa-miR-149	CLIP-seq
MIRT1015722	hsa-miR-24	CLIP-seq
MIRT1015723	hsa-miR-3064-5p	CLIP-seq
MIRT1015724	hsa-miR-4284	CLIP-seq
MIRT1015725	hsa-miR-4794	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001503	Process	Ossification	TAS	20406889
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IMP	23972370
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IDA	20406889
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	20406889
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	20406889
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005125	Function	Cytokine activity	IGI	32082362
GO:0005515	Function	Protein binding	IPI	17068149, 28564608
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	18309101
GO:0005615	Component	Extracellular space	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	TAS	20406889
GO:0008083	Function	Growth factor activity	IDA	7664647, 19903896
GO:0008083	Function	Growth factor activity	IEA
GO:0008156	Process	Negative regulation of DNA replication	TAS	20406889
GO:0010596	Process	Negative regulation of endothelial cell migration	IDA	17068149
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016525	Process	Negative regulation of angiogenesis	TAS	20406889
GO:0030308	Process	Negative regulation of cell growth	IDA	17068149
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8653785, 18436533, 22718755
GO:0030509	Process	BMP signaling pathway	IDA	17068149, 19366699, 19903896, 32082362, 32561494
GO:0030509	Process	BMP signaling pathway	TAS	8622651
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IDA	32561494
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	19366699
GO:0032924	Process	Activin receptor signaling pathway	IDA	17068149
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	TAS	20406889
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	7664647
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IDA	32561494
GO:0045766	Process	Positive regulation of angiogenesis	IDA	20406889
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17068149
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19366699
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048514	Process	Blood vessel morphogenesis	IDA	20406889
GO:0051216	Process	Cartilage development	TAS	20406889
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	17068149, 19366699, 19903896
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071773	Process	Cellular response to BMP stimulus	IDA	19366699
GO:0090100	Process	Positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA
GO:1903348	Process	Positive regulation of bicellular tight junction assembly	IDA	32561494

Other IDs

• MIM: 605120
• HGNC: 4217
• e!Ensembl: ENSG00000263761

Protein

• UniProt ID: Q9UK05
• Protein name: Growth/differentiation factor 2 (GDF-2) (Bone morphogenetic protein 9) (BMP-9)
• Protein function: Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG. {ECO:0000269|PubMed:18309101, ECO:000026
• PDB: 1ZKZ, 4FAO, 4MPL, 4YCG, 4YCI, 5HZW, 5I05, 9DPM, 9DPN, 9DPO, 9DPP, 9DPQ, 9DPR, 9DPS, 9DPT, 9DPU, 9DPV, 9DPW, 9DPX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	56 → 257	TGF-beta propeptide	Family
  PF00019	TGF_beta	326 → 428	Transforming growth factor beta like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma (at protein level). {ECO:0000269|PubMed:21710321}.
• Sequence:

  MCPGALWVALPLLSLLAGSLQGKPLQSWGRGSAGGNAHSPLGVPGGGLPEHTFNLKMFLE
  NVKVDFLRSLNLSGVPSQDKTRVEPPQYMIDLYNRYTSDKSTTPASNIVRSFSMEDAISI
  TATEDFPFQKHILLFNISIPRHEQITRAELRLYVSCQNHVDPSHDLKGSVVIYDVLDGTD
  AWDSATETKTFLVSQDIQDEGWETLEVSSAVKRWVRSDSTKSKNKLEVTVESHRKGCDTL
  DISVPPGSRNLPFFVVFSNDHSSGTKETRLELREMISHEQESVLKKLSKDGSTEAGESSH
  EEDTDGHVAAGSTLARRKRSAGAGSHCQKTSLRVNFEDIGWDSWIIAPKEYEAYECKGGC
  FFPLADDVTPTKHAIVQTLVHLKFPTKVGKACCVPTKLSPISVLYKDDMGVPTLKYHYEG
  MSVAECGCR

• Sequence length: 429

Pathways

KEGG:

Cytokine-cytokine receptor interaction

Reactome:

Signaling by BMP

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
Pulmonary arterial hypertension	Pathogenic	rs1555208696	RCV002285168	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Telangiectasia, hereditary hemorrhagic, type 5	Likely pathogenic; Pathogenic	rs1443463485, rs2549020220, rs1565755161, rs2549019672, rs1555208696, rs1358534877, rs199804679, rs200330818	RCV001998670 RCV003741389 RCV003822058 RCV003867907 RCV000651841 RCV000651839 RCV000074344 RCV000074345	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GDF2-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMORRHAGIC TELANGIECTASIA	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERITABLE PULMONARY ARTERIAL HYPERTENSION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELANGIECTASIA, HEREDITARY HEMORRHAGIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ 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	27177272		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	27517154		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28680159	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29843236		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31689244		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30844726		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	33834622, 34904380, 36259599	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	36198763	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34239365	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30844726		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	34595819	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29642505		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	26460584	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	29512689		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	28881833		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21892652, 24413988, 24805814, 25209393, 28415788, 29941860, 30015950, 30165893		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24805814, 29941860	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	28751863		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23281849, 23936038, 24573607, 26343646, 33834612	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29642505		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27177272		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19996292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19996292, 30628686		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31127068, 31146694		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31146694	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30537181		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28387157		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28228716		★☆☆☆☆ Found in Text Mining only
Color Blindness, Red-Green	Color blindness	BEFREE	31097082		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34841646	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	29932521, 29976569, 30744395		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29487140		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31146694		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31146694		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31146694	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31146694		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	28470873	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28470873		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30542413		★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	30816068		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27940998		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27940998		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29235531		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	33837257	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	29550458, 31146694		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	26801773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	30578397, 31727138, 32031986	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	28336518, 29223735, 30964206		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29977042		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29977042		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29487140		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	23018639, 23972370, 28973643, 29449337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	ORPHANET_DG	23972370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	CTD_human_DG	26801773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	29880487		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	27940998		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31146694	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	32813135	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29550458, 30636542, 31146694		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26076038, 26801773, 27316748, 27875556, 29650961, 30312106, 30636542, 31661308, 31727138		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	30578397		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28228716		★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	36198763	Inhibit	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	36259599	Associate	★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	23936038, 28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24573607, 27650540		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30312106		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33834612	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	26343646	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34199176	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21892652, 24413988, 24805814, 25209393, 28415788, 29941860, 30015950, 30165893		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27650540		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27177272		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30628686		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20406889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18922975, 23262982, 24805814, 29259971		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25640278		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29642505		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28133920, 29642505, 29977042, 30213293, 30628686		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28415788		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29235531		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18922975, 20406889, 21892652, 24337584, 25640278, 27741515, 28133920, 29259971, 30015950, 30165893		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28680159		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31322255		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27085971		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30954673		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22948234, 23262982, 23807047, 24337584, 27706722, 28350136, 28956179, 31268160		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23807047, 24805814	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33245175	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30628686		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19996292, 30628686	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20406889		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	30312106		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18922975, 24805814, 29259971		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18922975, 24805814	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26076038, 26801773, 30636542, 31661308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	26801773, 27875556, 29650961, 30578383, 31661308, 32813135, 33066286, 33834622, 34199176, 34831401, 35346192, 36259599	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal telangiectasia	Retinal telangiectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31810025		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31203157		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	28751863		★☆☆☆☆ Found in Text Mining only
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	BEFREE	28470822		★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31322255		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25640278		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	19366699, 26801773, 28564608, 29932521, 32341592, 32573726, 32962750, 33834622, 34831401, 34904380, 36259599, 37695357	Associate	★☆☆☆☆ Found in Text Mining only
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	CTD_human_DG	26801773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5	Telangiectasia, Hereditary Hemorrhagic	UNIPROT_DG	23972370		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5	Telangiectasia, Hereditary Hemorrhagic	GENOMICS_ENGLAND_DG	25674101		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5	Telangiectasia, Hereditary Hemorrhagic	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5	Telangiectasia, Hereditary Hemorrhagic	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Testicular Neoplasms	Testicular neoplasm	Pubtator	36611168	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	26801773, 27875556		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	32813135	Inhibit	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34199176	Associate	★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only