TNFSF11 (TNF superfamily member 11)

Gene

• Entrez ID: 8600
• Gene name: TNF superfamily member 11
• Gene symbol: TNFSF11
• Synonyms (NCBI Gene): CD254, ODF, OPGL, OPTB2, RANKL, TNLG6B, TRANCE, hRANKL2, sOdf
• Chromosome: 13
• Chromosome location: 13q14.11
• Summary: This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909072	T>A	Pathogenic	Missense variant, coding sequence variant
rs142756983	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs863223288	CG>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004387	hsa-miR-18a-5p	Microarray, Northern blot	16331254
MIRT004387	hsa-miR-18a-5p	Luciferase reporter assay	16331254
MIRT1443357	hsa-miR-3148	CLIP-seq
MIRT1443358	hsa-miR-3190	CLIP-seq
MIRT1443359	hsa-miR-4752	CLIP-seq
MIRT1443360	hsa-miR-150	CLIP-seq
MIRT1443361	hsa-miR-329	CLIP-seq
MIRT1443362	hsa-miR-362-3p	CLIP-seq
MIRT1443363	hsa-miR-4713-5p	CLIP-seq
MIRT1443364	hsa-miR-532-3p	CLIP-seq
MIRT1443365	hsa-miR-627	CLIP-seq
MIRT1443366	hsa-miR-924	CLIP-seq
MIRT2132672	hsa-miR-124	CLIP-seq
MIRT2132673	hsa-miR-3926	CLIP-seq
MIRT2132674	hsa-miR-4456	CLIP-seq
MIRT2132675	hsa-miR-4793-5p	CLIP-seq
MIRT2132676	hsa-miR-506	CLIP-seq
MIRT2132677	hsa-miR-548s	CLIP-seq
MIRT1443360	hsa-miR-150	CLIP-seq
MIRT2647828	hsa-miR-3064-5p	CLIP-seq
MIRT2647829	hsa-miR-3156-3p	CLIP-seq
MIRT2647830	hsa-miR-3607-3p	CLIP-seq
MIRT2647831	hsa-miR-4301	CLIP-seq
MIRT2647832	hsa-miR-4687-3p	CLIP-seq
MIRT1443363	hsa-miR-4713-5p	CLIP-seq
MIRT1443364	hsa-miR-532-3p	CLIP-seq
MIRT2647833	hsa-miR-892b	CLIP-seq
MIRT1443360	hsa-miR-150	CLIP-seq
MIRT2647828	hsa-miR-3064-5p	CLIP-seq
MIRT2647829	hsa-miR-3156-3p	CLIP-seq
MIRT2647830	hsa-miR-3607-3p	CLIP-seq
MIRT2647831	hsa-miR-4301	CLIP-seq
MIRT2647832	hsa-miR-4687-3p	CLIP-seq
MIRT1443363	hsa-miR-4713-5p	CLIP-seq
MIRT1443364	hsa-miR-532-3p	CLIP-seq
MIRT2647833	hsa-miR-892b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DACH1	Repression	17891780
E2F1	Activation	18381203
HSF2	Activation	15731115

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001503	Process	Ossification	IEA
GO:0002158	Process	Osteoclast proliferation	IEA
GO:0002548	Process	Monocyte chemotaxis	IDA	15248232
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	9367155, 15248232
GO:0005125	Function	Cytokine activity	IEA
GO:0005125	Function	Cytokine activity	NAS	9568710
GO:0005164	Function	Tumor necrosis factor receptor binding	IEA
GO:0005164	Function	Tumor necrosis factor receptor binding	NAS	9312132, 9367155
GO:0005515	Function	Protein binding	IPI	18586671, 22664871, 23333834, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	9568710, 10708588
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	9312132
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	NAS	9312132
GO:0007154	Process	Cell communication	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IBA
GO:0007254	Process	JNK cascade	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	15248232
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0023052	Process	Signaling	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	IDA	18606301
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	ISS
GO:0030316	Process	Osteoclast differentiation	NAS	9568710
GO:0032813	Function	Tumor necrosis factor receptor superfamily binding	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	15304486, 18606301
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	ISS	19940926
GO:0033598	Process	Mammary gland epithelial cell proliferation	IEA
GO:0034112	Process	Positive regulation of homotypic cell-cell adhesion	IDA	9367155
GO:0036035	Process	Osteoclast development	IEA
GO:0038001	Process	Paracrine signaling	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	15304486
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0044691	Process	Tooth eruption	IEA
GO:0045453	Process	Bone resorption	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045672	Process	Positive regulation of osteoclast differentiation	IBA
GO:0045672	Process	Positive regulation of osteoclast differentiation	IDA	15304486, 17241109, 19560569
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0045780	Process	Positive regulation of bone resorption	IDA	17241109
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15304486
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0048018	Function	Receptor ligand activity	IEA
GO:0050870	Process	Positive regulation of T cell activation	IDA	9367155
GO:0051466	Process	Positive regulation of corticotropin-releasing hormone secretion	IEA
GO:0051466	Process	Positive regulation of corticotropin-releasing hormone secretion	ISS	19940926
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0060348	Process	Bone development	IEA
GO:0060749	Process	Mammary gland alveolus development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	18606301
GO:0071812	Process	Positive regulation of fever generation by positive regulation of prostaglandin secretion	IEA
GO:0071812	Process	Positive regulation of fever generation by positive regulation of prostaglandin secretion	ISS	19940926
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IDA	9367155
GO:1902533	Process	Positive regulation of intracellular signal transduction	IDA	15248232
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2001206	Process	Positive regulation of osteoclast development	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IBA

Other IDs

• MIM: 602642
• HGNC: 11926
• e!Ensembl: ENSG00000120659

Protein

• UniProt ID: O14788
• Protein name: Tumor necrosis factor ligand superfamily member 11 (Osteoclast differentiation factor) (ODF) (Osteoprotegerin ligand) (OPGL) (Receptor activator of nuclear factor kappa-B ligand) (RANKL) (TNF-related activation-induced cytokine) (TRANCE) (CD antigen CD254
• Protein function: Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between
• PDB: 3URF, 5BNQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00229	TNF	185 → 313	TNF(Tumour Necrosis Factor) family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid.
• Sequence:

  MRRASRDYTKYLRGSEEMGGGPGAPHEGPLHAPPPPAPHQPPAASRSMFVALLGLGLGQV
  VCSVALFFYFRAQMDPNRISEDGTHCIYRILRLHENADFQDTTLESQDTKLIPDSCRRIK
  QAFQGAVQKELQHIVGSQHIRAEKAMVDGSWLDLAKRSKLEAQPFAHLTINATDIPSGSH
  KVSLSSWYHDRGWAKISNMTFSNGKLIVNQDGFYYLYANICFRHHETSGDLATEYLQLMV
  YVTKTSIKIPSSHTLMKGGSTKYWSGNSEFHFYSINVGGFFKLRSGEEISIEVSNPSLLD
  PDQDATYFGAFKVRDID

• Sequence length: 317

Pathways

KEGG:

Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Osteoclast differentiation
Prolactin signaling pathway
Parathyroid hormone synthesis, secretion and action
Chemical carcinogenesis - receptor activation
Breast cancer
Rheumatoid arthritis

Reactome:

TNFR2 non-canonical NF-kB pathway
TNFs bind their physiological receptors
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway

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
Autosomal recessive osteopetrosis 2	Pathogenic; Likely pathogenic	rs2137916719, rs2137905441, rs121909072, rs863223288, rs267603829	RCV002247768 RCV000007388 RCV000007389 RCV000007390 RCV002052073	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE OSTEOPETROSIS	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE RESORPTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PERIODONTITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of bone	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOLYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TNFSF11-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	27615270, 28076786		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	29895074		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	39741885	Associate	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18406448		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	23096689		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	21541994		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	20050882, 20214446, 31578308		★☆☆☆☆ Found in Text Mining only
Alkaptonuria	Alkaptonuria	BEFREE	30343446		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30737962		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	LHGDN	15044512		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	21643971, 30151060, 31017256	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	21983933, 27327904, 30421571		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	36507759, 36748192	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	18389210, 21659498, 26212797	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25811776	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	28090190	Inhibit	★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30819183		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	26608463	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	34418901	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	LHGDN	18369625		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	24442994, 25912212, 26602520, 30689477		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	29777507		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	20431232, 28246602	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	28246602	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	LHGDN	14734048		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	28246602	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20671239, 27874938		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	10862785, 14730626, 21470874, 21937456, 22884682, 22985747, 28386999, 28438834, 28474155, 28506283, 30412852, 30804932, 31076346, 31231214, 31508794		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	16646024, 17341304	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	18172654		★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	21992185, 22136246	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	34963488, 37328895	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	12639988, 20796300, 24100919	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	23144698	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10693863, 10693864, 11056676, 11083276, 11352231, 15476205, 15593184, 16052586, 16385498, 16736517, 17341304, 17968879, 18479350, 18576301, 20533289, 21401926, 21708014, 21742639, 22034096, 22326262, 22901757, 23710436, 24295447, 24431391, 25811130, 25889630, 25894998, 26337028, 26362732, 26980135, 27054952, 27403809, 28190118, 28286938, 28446753, 28681901, 30402834, 31831038, 32264938, 32361708, 32815001, 32972460, 33592912, 34234380, 37809066	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12429533, 16220542, 18302252, 22867712, 25837853, 25967362, 26602520, 33435236, 33952303	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	31502483		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16681444		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20671239, 27874938		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27874938, 33019425	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	22001292	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	18479350	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30090063		★☆☆☆☆ Found in Text Mining only
Autosomal recessive malignant osteopetrosis	Malignant Osteopetrosis	Orphanet			★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	28244588		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	28244588		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	25063546	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	12619938	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	11274143, 11369623, 11393778, 11739153, 12412796, 12639988, 12665629, 15205949, 15238139, 15753532, 16052586, 16489180, 16752412, 17606458, 17996099, 18479350, 20955951, 21742639, 21992185, 22136246, 22330139, 22431375, 23616122, 24700654, 25354236, 25393853, 25894998, 26362732, 26617755, 26781475, 26980135, 27582133, 29680857, 30405638, 30496606, 31183390, 32365752, 33592912, 34403509, 35897105, 35929595, 37532711	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	12393684, 12619938, 12965277, 14565645, 14633785, 19016581, 19770515, 22023625, 22440007, 23543663, 24074513, 24486161, 27789216, 27913299, 28092987, 28261305, 28575726, 28992140, 29392395, 29533303, 30012915, 30146787, 30338925, 30405638, 30703868, 30756140, 30981187, 31119697, 31299594, 31603626		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	LHGDN	12393684, 12619938, 15205949, 15615493, 17606458		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	18978943	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	15068494, 22370887, 29713799, 30819183, 37328895	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	22431375	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	25107916, 25223386, 29510588		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	27163152, 31409771	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	11352231, 12619938, 12639988, 12697741, 15068494, 16936272, 17355249, 19627525, 20446027, 21569821, 25302610, 25393853, 27815441, 28488893, 30417373, 31637266, 31944625, 33096904, 35896699, 36482064, 36614130	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Resorption	Bone resorption	Pubtator	11918537, 16280328, 21075196, 34202165, 38402724	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	21470874, 21725611, 22261811, 24486161, 24729980, 25007964, 25367875, 25724681, 26200837, 26749530, 27322743, 27783278, 27881737, 27915435, 27983911, 28388533, 28417335, 28463564, 28666187, 28761973, 29025596, 29081815, 29088745, 29154022, 29212847, 29241686, 29512770, 29547583, 29844572, 30309792, 31040267, 31069010, 31136850, 31796128, 31806543		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16394281, 16489180, 18584413, 22261811, 22824341, 23369128, 23616122, 24729980, 25849336, 25986046, 26218592, 27191503, 27893411, 28002811, 28388533, 28420351, 28761973, 29932437, 30015970, 31992773, 32183159, 33126731, 33785053, 35697931, 36346787, 36652988	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26762414	Stimulate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16449517, 25407893, 31189751, 39289624	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	26820766		★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	BEFREE	21541994		★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	18978943	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23616122	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25268581	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21328467, 31075265, 31572609		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	35401056	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37532711	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	17620507, 19008470		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22001292, 37532711	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29687784, 30270544, 31176082		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	20796300	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	16736517, 23710436, 29374435, 34234380, 39768138	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27874938	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	27874938	Associate	★☆☆☆☆ Found in Text Mining only
Cherubism	Cherubism	BEFREE	24916406		★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	12665629	Associate	★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	27163152	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	25270538		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	27163152	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28992140, 29644525, 31832725		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	16270354		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CTD_human_DG	16270354		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23139212		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	18727653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Periodontitis	Periodontitis	BEFREE	19419438, 20033478, 23177932, 29958327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Periodontitis	Periodontitis	CTD_human_DG	20731768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Periodontitis	Periodontitis	Pubtator	29267518	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Periodontitis	Periodontitis	Pubtator	31944625, 33967621	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic rhinitis due to narrow nasal airway	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	31693309		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	19455604		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31944625	Stimulate	★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	25589510, 27509906		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial dysplasia	Pubtator	27068678	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35858838	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34541005, 35395711	Associate	★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	BEFREE	29073497		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	30343446		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28244588		★☆☆☆☆ Found in Text Mining only
Congenital Osteopetrosis	Congenital Osteopetrosis	CTD_human_DG	17632511		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28115805, 28567553		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37939716	Associate	★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	26820766		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	31693309		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	15544627	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	31847822		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10693864, 17601661, 17968879, 17996099, 18539107, 18565244, 19073256, 19446344, 20112374, 21259010, 26621504, 28425564, 29746861, 29799160, 30530994, 31546898		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	18528653, 18565252		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31790783		★☆☆☆☆ Found in Text Mining only
Dermatitis Allergic Contact	Allergic contact dermatitis	Pubtator	39408763	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20519666, 29220094, 29240821, 30279162		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20519666, 29220094, 29240821, 30279162, 31321775		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21659498, 25811776	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32374812, 37728820	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37838749	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24529565, 27028343, 28982588, 29240821, 30343446, 31823791		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27171030, 30089481, 31304802		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	LHGDN	15322748		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	31304802		★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	19874199, 31295366		★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	31435075	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia 12	Dystonia	Pubtator	25063546	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	31176082		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26734994		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29504704		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25019155	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25019155	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	30496606	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	36652988	Stimulate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	30285829	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial expansile osteolysis	Expansile Osteolysis	BEFREE	17174136		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	28705683		★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	30530236		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	16024207, 20225273, 20886653, 22102368, 26053181, 26338802, 29016442, 29159783, 29206281, 29211870, 29944971, 30778015, 30868006, 30877429, 31651524, 31714440, 31748824, 31762217		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	20886653, 22102368, 25764026, 34285260, 34995868, 37449658, 39623818	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	27163152	Stimulate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	31189751	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	28440740, 29676776, 30070705		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	29214160	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	22905158, 24555783		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	22905158	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28824302	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	16449517, 27003233	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	12697741, 18407820	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	36346787	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	28285639, 29967185		★☆☆☆☆ Found in Text Mining only
Humoral hypercalcemia of malignancy (disorder)	Humoral Hypercalcemia Of Malignancy	BEFREE	10708588		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	STAT3 Deficiency	BEFREE	21937456		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	11781248	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	CTD_human_DG	15845617		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	BEFREE	23877423, 27983911, 30572144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalciuria Absorptive 2	Hypercalciuria	Pubtator	18480302	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29908298		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	20808842		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	22185226	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	22185226		★☆☆☆☆ Found in Text Mining only
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	BEFREE	12124406, 14672344, 16491292, 17174136, 25063546		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	28851954	Associate	★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	29895074		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33019425, 37838749	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25810067		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	29344330		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30587688	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Indolent Systemic Mastocytosis	Indolent Systemic Mastocytosis	BEFREE	28229176		★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	ORPHANET_DG	17632511, 23877423		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	15753532	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29558031, 29763384		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33233925, 38095643	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	34846723	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	37532711	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27874938		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	17703334, 18802807		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28244588, 30132289		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	29741640, 30538295	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16304637, 19131553, 23241893	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23241893	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23499553		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17195907, 19728335, 25268581		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17195907		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	12665629, 27054952, 27631617, 28343748	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37021520	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22027240	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35897105	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18174230, 28275260, 31403902		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	25229495	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29340518	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30358208, 31713298	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23096689, 26873486		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	26873486	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	LHGDN	12756027		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28555075		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21470874, 21725611, 22261811, 24486161, 24729980, 25007964, 25367875, 25724681, 26200837, 26749530, 27322743, 27783278, 27881737, 27983911, 28388533, 28417335, 28463564, 28666187, 28761973, 29025596, 29081815, 29088745, 29154022, 29212847, 29241686, 29512770, 29547583, 29844572, 30309792, 31040267, 31069010, 31136850, 31796128, 31806543		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26734994		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21328467, 31075265, 31572609		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	23499553		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15894268, 17683568, 22412975, 23696795, 24066029, 27835867, 28292326, 28485692, 29154022, 29328471, 30929064, 31505052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23404437		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18978943, 20166980, 21561598, 23499553, 25007964, 25268581, 27279652, 28387573, 28388533, 28634284, 28646421, 28760341, 29277763, 29328471, 30439408, 30813611, 31160305, 31763801		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12698202, 12923331, 17151927		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25367875, 28387573, 29932437		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral dysplasia	Pubtator	21419220	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	27239674		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16572175		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28634284, 29750753		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31323160	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	29214160		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31790783		★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	15845617		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	22805623		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	18005268		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	37590989	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11369623, 11918537, 12412796, 15205949, 15308561, 16156862, 17606458, 23178378, 24875904, 26669972, 26762414, 30405638, 35936985, 36251145	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11739153, 12393684, 15238139	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12965277, 14565645, 15238139, 16263571, 18305214, 20050882, 20166980, 20506157, 22952578, 23139212, 24875904, 29296887, 29592898, 30093448		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	18305214		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24340030	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18208894		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22805623, 29920500		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35456036	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	29699580		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	17002564	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	31392399		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18298349		★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	31189751	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	31641233		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10702390, 18064531, 20066901, 20225273, 21561598, 22102368, 23404437, 23516466, 25007964, 25412610, 26200837, 27279652, 27327904, 28417335, 28420351, 29204705, 30355966, 30431583, 30622830, 30984193, 30998511, 31189751, 31572609		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25148040		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	23336103		★☆☆☆☆ Found in Text Mining only
Neurogenic arthropathy	Neurogenic Arthropathy	BEFREE	28356555		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31304802		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29785076, 30315891		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23516466, 29052177		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23300848, 34202165, 35463988	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30114641, 31364017		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31130968	Stimulate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	18445777	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	25367875		★☆☆☆☆ Found in Text Mining only
Opsoclonus	Opsoclonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	17229020, 21501964		★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	30496606, 31295366		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	11393778, 18539107, 20112374, 22207352, 25407789, 37008941, 39768138	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	18302252, 18565252	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19762475	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	20112374	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	29940143		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	20112374		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	18389210, 28851954	Associate	★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous dysplasia	Pubtator	21983933	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	30343446		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	29340518	Associate	★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	12393684, 12412796, 14578201, 15238139, 20796300, 21643971, 22330139, 29328414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteomalacia	Osteomalacia	BEFREE	21541994		★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	Pubtator	21541994	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	28263017		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	34846723	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis of mandible	Mandibular osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	25820558, 26617755, 28824302	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	16583245, 19040304, 19073256, 20033478, 21787293, 22616666, 22782898, 23096243, 23884114, 23936022, 24039733, 24808362, 25257532, 25496242, 26426211, 26894505, 27064449, 27789216, 27943387, 28013554, 28229176, 28261305, 28315458, 28337794, 28399815, 28438834, 28468652, 28481322, 28506283, 28575726, 28580511, 28612339, 28741427, 28878136, 28899511, 28940410, 28941602, 29061958, 29070038, 29116414, 29136954, 29220094, 29288400, 29345352, 29348072, 29377379, 29401617, 29424771, 29439292, 29441015, 29481872, 29499125, 29520506, 29649498, 29663382, 29693149, 29808374, 29869503, 29916540, 29944638, 30011853, 30025412, 30063119, 30119205, 30205376, 30317692, 30397909, 30399207, 30506812, 30552680, 30564561, 30597968, 30603840, 30628956, 30633330, 30633834, 30737274, 30804932, 30815860, 30843284, 30934850, 30981187, 31050917, 31055000, 31085814, 31098335, 31185702, 31263418, 31306296, 31398803, 31399090, 31431733, 31526291, 31555218, 31566133, 31578308, 31579816, 31581596, 31595160, 31603626, 31655621		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	LHGDN	11792569, 17632511		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	BEFREE	11804028, 18606301, 23776468, 28100034, 28589412, 29344330, 29392395, 30184340, 30804932		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	CTD_human_DG	17632511		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	Pubtator	25063546, 30184340	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis	CTD_human_DG	17632511		★☆☆☆☆ Found in Text Mining only
Osteopetrosis mild autosomal recessive form	Osteopetrosis	Pubtator	18606301, 22271396, 23280965, 28816234, 30184340	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis, mild autosomal recessive form	Osteopetrosis	UNIPROT_DG	17632511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, mild autosomal recessive form	Osteopetrosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, mild autosomal recessive form	Osteopetrosis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	10499489, 16393773, 18502820, 19229472, 21411255, 21470874, 22952578, 24161996, 25060295, 25804099, 25833316, 26412210, 26426211, 26506085, 26659571, 26747728, 26914636, 27064449, 27783278, 28035412, 28275260, 28315346, 28315458, 28337794, 28367895, 28383518, 28453307, 28468652, 28501578, 28626166, 28760341, 29055350, 29067096, 29113523, 29154022, 29348072, 29379436, 29392395, 29528523, 29571022, 29693149, 29710663, 29713799, 29713913, 29794560, 30036771, 30055540, 30195781, 30349211, 30381400, 30515822, 30579598, 30601581, 30632520, 30643801, 30657216, 30778015, 30818817, 30911544, 30978650, 31126201, 31231214, 31367247, 31409771, 31497217, 31566133, 31576127, 31596733, 31612613, 31763801, 31764838, 31773670, 31790783, 31826180		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	15068494, 17002564, 19352306, 19877060, 21845073, 22370887, 23915851, 25132170, 26506085, 27304650, 28488893, 29528523, 30443169, 30903656, 31699948, 31947859, 32446200, 33096904, 33494362, 33572979, 33637048, 35897105	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	LHGDN	15564564, 16704959, 17634142, 19190327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	CTD_human_DG	17882678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	17882678		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	LHGDN	12564836, 18502820		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	23543663, 24486161, 28438834, 29151553, 29571022, 29703642, 30195781, 30735778, 30826782		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	16730419		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	17882678		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10693864, 10702390, 16328004, 17592964, 17645699, 21479680, 23845465, 25107916, 26659571, 30355966		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	17982618		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17982618, 33773537, 38468522	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	27163152	Stimulate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	17343740, 19796718		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	17229020		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37708964	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical periodontitis	Pubtator	18634923	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	26138525, 28261746, 29995146, 30871729, 31011287, 31153660		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	12390325, 16936272, 17355249, 27815441, 36566872	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	LHGDN	15732858		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	20033478, 25060295, 28367895, 28637991, 29889832, 30070705		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	16542362, 21777519, 27815441, 31637266	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	17032122, 20033478, 27913299, 28013554, 28199142, 28985543, 29058810, 29195021, 29220094, 29240821, 29274168, 29447240, 29607937, 29951876, 30070705, 30199848, 30506812, 30737274, 30924022, 31032952, 31055000, 31416146, 31541460, 31581596		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	LHGDN	18435789		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	31183390, 32374812	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	31847822		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	28914577		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	17882678		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	29353451, 30343446		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	19229472, 22936693, 31377883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prolactinoma	Prolactinoma	BEFREE	27849387, 29895074		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	28914577		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15894268, 17683568, 22412975, 23696795, 24066029, 27835867, 28292326, 28485692, 29154022, 29328471, 30929064, 31505052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15894268, 17377533		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16752412, 18535913, 22966907, 24066029, 25990623, 36880252	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18645583		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31717649		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	31836304		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19455604		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	31244859		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	31244859		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10225978, 10693863, 10693864, 11056676, 11083276, 11426018, 12734885, 15476205, 17133360, 17601661, 17968879, 18565244, 19446344, 20112365, 20231205, 20533289, 21708014, 21742639, 21968544, 23546988, 24431391, 24574213, 24886600, 25529994, 25811130, 25889630, 26420479, 26602520, 26621504, 26914636, 27054952, 27550416, 27640100, 27871200, 27894399, 28286938, 28446753, 28474138, 28770826, 28898718, 29029341, 29195021, 29465363, 29755657, 29889832, 30179207, 30402834, 30596535, 30753461, 31086948, 31209146, 31297563, 31486401, 31566133, 31773672, 31836304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12564836, 15290725, 17133360, 18565244		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	32525717	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35401056	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	LHGDN	17520299		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	35418213	Associate	★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	29447240		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	18033314		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	10693863, 18565244, 25529994, 26420479, 27550416, 30029761, 31076346		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30628956		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	31189751		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	LHGDN	18311801		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	19040304		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	26602520	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19671684, 22330139, 26095774, 31309556, 35211756, 36614130, 37970929	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28742795	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21561598		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23404437		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16969487		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28851954, 30015970	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29340518	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	12429533, 35292262	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	18565244, 29606664		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	35418213	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	15068494, 35858838	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	19352306	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30358208	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	21332025		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	35237949	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	31847822		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	20431232, 21659498, 26506085, 27336899, 33019425, 34833374	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	37728820	Stimulate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	29685422		★☆☆☆☆ Found in Text Mining only