TNFRSF11B (TNF receptor superfamily member 11b)

Gene

• Entrez ID: 4982
• Gene name: TNF receptor superfamily member 11b
• Gene symbol: TNFRSF11B
• Synonyms (NCBI Gene): OCIF, OPG, PDB5, TR1
• Chromosome: 8
• Chromosome location: 8q24.12
• Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin l

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894091	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894092	A>G	Pathogenic	Coding sequence variant, missense variant
rs144654126	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146450643	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200071478	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs786205594	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796051868	CGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs1307942060	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554617110	->C	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023202	hsa-miR-124-3p	Microarray	18668037
MIRT031067	hsa-miR-21-5p	Microarray	20371350
MIRT053664	hsa-miR-181a-5p	Microarray	22942087
MIRT1442877	hsa-miR-135a	CLIP-seq
MIRT1442878	hsa-miR-135b	CLIP-seq
MIRT1442879	hsa-miR-3119	CLIP-seq
MIRT1442880	hsa-miR-3160-5p	CLIP-seq
MIRT1442881	hsa-miR-4263	CLIP-seq
MIRT1442882	hsa-miR-576-5p	CLIP-seq
MIRT1555056	hsa-miR-1283	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT1555058	hsa-miR-199a-3p	CLIP-seq
MIRT1555059	hsa-miR-199b-3p	CLIP-seq
MIRT1555060	hsa-miR-216a	CLIP-seq
MIRT1555061	hsa-miR-221	CLIP-seq
MIRT1555062	hsa-miR-222	CLIP-seq
MIRT1555063	hsa-miR-3129-5p	CLIP-seq
MIRT1555064	hsa-miR-3145-3p	CLIP-seq
MIRT1555065	hsa-miR-3163	CLIP-seq
MIRT1555066	hsa-miR-3180-5p	CLIP-seq
MIRT1555067	hsa-miR-330-3p	CLIP-seq
MIRT1555068	hsa-miR-3662	CLIP-seq
MIRT1555069	hsa-miR-371-5p	CLIP-seq
MIRT1555070	hsa-miR-371b-5p	CLIP-seq
MIRT1555071	hsa-miR-3915	CLIP-seq
MIRT1555072	hsa-miR-3928	CLIP-seq
MIRT1555073	hsa-miR-3935	CLIP-seq
MIRT1555074	hsa-miR-4261	CLIP-seq
MIRT1555075	hsa-miR-4282	CLIP-seq
MIRT1555076	hsa-miR-4307	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT1555078	hsa-miR-4496	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT1555081	hsa-miR-548v	CLIP-seq
MIRT1555082	hsa-miR-577	CLIP-seq
MIRT1555083	hsa-miR-586	CLIP-seq
MIRT1555084	hsa-miR-587	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT1555087	hsa-miR-885-5p	CLIP-seq
MIRT1555088	hsa-miR-936	CLIP-seq
MIRT2132537	hsa-miR-124	CLIP-seq
MIRT2132538	hsa-miR-1289	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT2132539	hsa-miR-3198	CLIP-seq
MIRT2132540	hsa-miR-3714	CLIP-seq
MIRT2132541	hsa-miR-3910	CLIP-seq
MIRT1555071	hsa-miR-3915	CLIP-seq
MIRT1555072	hsa-miR-3928	CLIP-seq
MIRT2132542	hsa-miR-4294	CLIP-seq
MIRT2132543	hsa-miR-4309	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2132544	hsa-miR-506	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT2434154	hsa-miR-1183	CLIP-seq
MIRT2434155	hsa-miR-1251	CLIP-seq
MIRT2434156	hsa-miR-1265	CLIP-seq
MIRT1555056	hsa-miR-1283	CLIP-seq
MIRT2132538	hsa-miR-1289	CLIP-seq
MIRT1442877	hsa-miR-135a	CLIP-seq
MIRT1442878	hsa-miR-135b	CLIP-seq
MIRT2434157	hsa-miR-181a	CLIP-seq
MIRT2434158	hsa-miR-181b	CLIP-seq
MIRT2434159	hsa-miR-181c	CLIP-seq
MIRT2434160	hsa-miR-181d	CLIP-seq
MIRT2434161	hsa-miR-183	CLIP-seq
MIRT2434162	hsa-miR-200b	CLIP-seq
MIRT2434163	hsa-miR-200c	CLIP-seq
MIRT2434164	hsa-miR-2054	CLIP-seq
MIRT2434165	hsa-miR-21	CLIP-seq
MIRT1555060	hsa-miR-216a	CLIP-seq
MIRT1555061	hsa-miR-221	CLIP-seq
MIRT1555062	hsa-miR-222	CLIP-seq
MIRT2434166	hsa-miR-224	CLIP-seq
MIRT2434167	hsa-miR-2392	CLIP-seq
MIRT1442879	hsa-miR-3119	CLIP-seq
MIRT2434168	hsa-miR-3121-3p	CLIP-seq
MIRT1555064	hsa-miR-3145-3p	CLIP-seq
MIRT2434169	hsa-miR-3145-5p	CLIP-seq
MIRT1442880	hsa-miR-3160-5p	CLIP-seq
MIRT1555065	hsa-miR-3163	CLIP-seq
MIRT2434170	hsa-miR-3170	CLIP-seq
MIRT2132539	hsa-miR-3198	CLIP-seq
MIRT2434171	hsa-miR-3200-5p	CLIP-seq
MIRT1555067	hsa-miR-330-3p	CLIP-seq
MIRT2434172	hsa-miR-340	CLIP-seq
MIRT2434173	hsa-miR-34a	CLIP-seq
MIRT2434174	hsa-miR-34c-5p	CLIP-seq
MIRT1555068	hsa-miR-3662	CLIP-seq
MIRT2434175	hsa-miR-3682-3p	CLIP-seq
MIRT1555069	hsa-miR-371-5p	CLIP-seq
MIRT1555070	hsa-miR-371b-5p	CLIP-seq
MIRT2434176	hsa-miR-3908	CLIP-seq
MIRT2434177	hsa-miR-3942-3p	CLIP-seq
MIRT2434178	hsa-miR-3942-5p	CLIP-seq
MIRT2434179	hsa-miR-4255	CLIP-seq
MIRT2434180	hsa-miR-4260	CLIP-seq
MIRT2434181	hsa-miR-4262	CLIP-seq
MIRT1442881	hsa-miR-4263	CLIP-seq
MIRT1555075	hsa-miR-4282	CLIP-seq
MIRT2434182	hsa-miR-429	CLIP-seq
MIRT2132542	hsa-miR-4294	CLIP-seq
MIRT1555076	hsa-miR-4307	CLIP-seq
MIRT2132543	hsa-miR-4309	CLIP-seq
MIRT2434183	hsa-miR-4330	CLIP-seq
MIRT2434184	hsa-miR-4427	CLIP-seq
MIRT2434185	hsa-miR-4443	CLIP-seq
MIRT2434186	hsa-miR-449a	CLIP-seq
MIRT2434187	hsa-miR-449b	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT2434188	hsa-miR-4517	CLIP-seq
MIRT2434189	hsa-miR-4540	CLIP-seq
MIRT2434190	hsa-miR-4645-3p	CLIP-seq
MIRT2434191	hsa-miR-4668-3p	CLIP-seq
MIRT2434192	hsa-miR-4680-3p	CLIP-seq
MIRT2434193	hsa-miR-4703-5p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2434194	hsa-miR-4729	CLIP-seq
MIRT2434195	hsa-miR-4753-3p	CLIP-seq
MIRT2434196	hsa-miR-4762-5p	CLIP-seq
MIRT2434197	hsa-miR-4766-3p	CLIP-seq
MIRT2434198	hsa-miR-4768-5p	CLIP-seq
MIRT2434199	hsa-miR-4775	CLIP-seq
MIRT2434200	hsa-miR-4789-5p	CLIP-seq
MIRT2434201	hsa-miR-4799-5p	CLIP-seq
MIRT2434202	hsa-miR-508-5p	CLIP-seq
MIRT2434203	hsa-miR-539	CLIP-seq
MIRT2434204	hsa-miR-548aa	CLIP-seq
MIRT2434205	hsa-miR-548ag	CLIP-seq
MIRT2434206	hsa-miR-548ai	CLIP-seq
MIRT2434207	hsa-miR-548c-3p	CLIP-seq
MIRT1555081	hsa-miR-548v	CLIP-seq
MIRT1442882	hsa-miR-576-5p	CLIP-seq
MIRT1555082	hsa-miR-577	CLIP-seq
MIRT2434208	hsa-miR-579	CLIP-seq
MIRT1555083	hsa-miR-586	CLIP-seq
MIRT1555084	hsa-miR-587	CLIP-seq
MIRT2434209	hsa-miR-590-3p	CLIP-seq
MIRT2434210	hsa-miR-590-5p	CLIP-seq
MIRT2434211	hsa-miR-616	CLIP-seq
MIRT2434212	hsa-miR-629	CLIP-seq
MIRT2434213	hsa-miR-633	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT2434214	hsa-miR-656	CLIP-seq
MIRT2434215	hsa-miR-765	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT2434216	hsa-miR-802	CLIP-seq
MIRT1555087	hsa-miR-885-5p	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT2434170	hsa-miR-3170	CLIP-seq
MIRT2434180	hsa-miR-4260	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT2434190	hsa-miR-4645-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2434203	hsa-miR-539	CLIP-seq
MIRT2434212	hsa-miR-629	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT2647684	hsa-miR-10a	CLIP-seq
MIRT2647685	hsa-miR-10b	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT2647686	hsa-miR-3150b-3p	CLIP-seq
MIRT2434170	hsa-miR-3170	CLIP-seq
MIRT1555066	hsa-miR-3180-5p	CLIP-seq
MIRT2647687	hsa-miR-3187-3p	CLIP-seq
MIRT2647688	hsa-miR-34c-3p	CLIP-seq
MIRT2647689	hsa-miR-3688-5p	CLIP-seq
MIRT1555071	hsa-miR-3915	CLIP-seq
MIRT1555072	hsa-miR-3928	CLIP-seq
MIRT2434180	hsa-miR-4260	CLIP-seq
MIRT1555074	hsa-miR-4261	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT2647690	hsa-miR-4420	CLIP-seq
MIRT2434185	hsa-miR-4443	CLIP-seq
MIRT2647691	hsa-miR-4470	CLIP-seq
MIRT2647692	hsa-miR-4490	CLIP-seq
MIRT1555078	hsa-miR-4496	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT2647693	hsa-miR-4529-5p	CLIP-seq
MIRT2434189	hsa-miR-4540	CLIP-seq
MIRT2434190	hsa-miR-4645-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2647694	hsa-miR-4766-5p	CLIP-seq
MIRT2647695	hsa-miR-4784	CLIP-seq
MIRT2647696	hsa-miR-515-5p	CLIP-seq
MIRT2434203	hsa-miR-539	CLIP-seq
MIRT2434212	hsa-miR-629	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT2434215	hsa-miR-765	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq
MIRT1555057	hsa-miR-1294	CLIP-seq
MIRT2647686	hsa-miR-3150b-3p	CLIP-seq
MIRT2434170	hsa-miR-3170	CLIP-seq
MIRT1555066	hsa-miR-3180-5p	CLIP-seq
MIRT2647687	hsa-miR-3187-3p	CLIP-seq
MIRT1555071	hsa-miR-3915	CLIP-seq
MIRT1555072	hsa-miR-3928	CLIP-seq
MIRT2434180	hsa-miR-4260	CLIP-seq
MIRT1555074	hsa-miR-4261	CLIP-seq
MIRT1555077	hsa-miR-4316	CLIP-seq
MIRT2434185	hsa-miR-4443	CLIP-seq
MIRT1555078	hsa-miR-4496	CLIP-seq
MIRT1555079	hsa-miR-450b-3p	CLIP-seq
MIRT2647693	hsa-miR-4529-5p	CLIP-seq
MIRT2434189	hsa-miR-4540	CLIP-seq
MIRT2434190	hsa-miR-4645-3p	CLIP-seq
MIRT1555080	hsa-miR-4713-3p	CLIP-seq
MIRT2647695	hsa-miR-4784	CLIP-seq
MIRT2647696	hsa-miR-515-5p	CLIP-seq
MIRT2434203	hsa-miR-539	CLIP-seq
MIRT2434212	hsa-miR-629	CLIP-seq
MIRT1555085	hsa-miR-638	CLIP-seq
MIRT2434215	hsa-miR-765	CLIP-seq
MIRT1555086	hsa-miR-769-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB5	Repression	21132541
HOXC8	Unknown	11139569
PPARG	Unknown	12056809
SMAD1	Unknown	11139569

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	9108485
GO:0005125	Function	Cytokine activity	TAS	9168977
GO:0005515	Function	Protein binding	IPI	22664871, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	22664871
GO:0005576	Component	Extracellular region	TAS	9108485
GO:0005615	Component	Extracellular space	IDA	15516325
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	9168977
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0038023	Function	Signaling receptor activity	TAS	9108485
GO:0042489	Process	Negative regulation of odontogenesis of dentin-containing tooth	IEA
GO:0043235	Component	Receptor complex	IPI	9168977
GO:0045671	Process	Negative regulation of osteoclast differentiation	IEA
GO:0045671	Process	Negative regulation of osteoclast differentiation	ISO
GO:1904399	Function	Heparan sulfate binding	IEA

Other IDs

• MIM: 602643
• HGNC: 11909
• e!Ensembl: ENSG00000164761

Protein

• UniProt ID: O00300
• Protein name: Tumor necrosis factor receptor superfamily member 11B (Osteoclastogenesis inhibitory factor) (Osteoprotegerin)
• Protein function: Acts as a decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between
• PDB: 3URF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00020	TNFR_c6	25 → 62	TNFR/NGFR cysteine-rich region	Domain
  PF00020	TNFR_c6	65 → 105	TNFR/NGFR cysteine-rich region	Domain
  PF00020	TNFR_c6	107 → 142	TNFR/NGFR cysteine-rich region	Domain
  PF00531	Death	278 → 365	Death domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in adult lung, heart, kidney, liver, spleen, thymus, prostate, ovary, small intestine, thyroid, lymph node, trachea, adrenal gland, testis, and bone marrow. Detected at very low levels in brain, placenta and skeletal m
• Sequence:

  MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKT
  VCAPCPDHYYTDSWHTSDECLYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLK
  HRSCPPGFGVVQAGTPERNTVCKRCPDGFFSNETSSKAPCRKHTNCSVFGLLLTQKGNAT
  HDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERI
  KRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLME
  SLPGKKVGAEDIEKTIKACKPSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKT
  VTQSLKKTIRFLHSFTMYKLYQKLFLEMIGNQVQSVKISCL

• Sequence length: 401

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Osteoclast differentiation

Reactome:

TNFs bind their physiological receptors

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
Hyperphosphatasemia with bone disease	Pathogenic; Likely pathogenic	rs200071478, rs796051868, rs104894091, rs2129878039, rs1355555142, rs1307942060	RCV000190837 RCV000007384 RCV000007385 RCV000007387 RCV003985152 RCV000988113	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE RESORPTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID STENOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ 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
OSTEOLYSIS	—	CTD	★★☆☆☆ 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
PAGET DISEASE OF BONE 5, JUVENILE-ONSET	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TNFRSF11B-related disorder	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	28674790		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	29895074		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	39741885	Associate	★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	18328262		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	29330256		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	15307108		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	LHGDN	15307108		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	19134004		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	16953816		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	LHGDN	18938269		★☆☆☆☆ Found in Text Mining only
Alkaptonuria	Alkaptonuria	BEFREE	30343446		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39394418	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	21643971	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	30801855		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	18389210	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	19502537, 21659498, 28090190	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25811776	Stimulate	★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	29906249, 30819183		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	15504545		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	26608463	Stimulate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	27270654	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	34418901	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	BEFREE	20547946		★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	20974615, 25912212, 28153008, 28934972, 29067128, 30689477, 31015798		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	19502537	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23219833, 30742129		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	31414130		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	25301844		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	19438902, 31703088	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	15939823, 19438902, 25301844, 26783750, 28843790, 29749489, 31703088		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	28725213		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	21917259, 28246602		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	27003233, 28246602	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	28821297	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	30387222		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	LHGDN	14734048		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28246602, 28821297, 30266917		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	28246602, 32089075	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15292354, 15939823, 19907187, 21568931, 22965192, 23110639, 25218813, 25323324, 26664786, 28249772, 28279156, 28837646, 28867452, 28882110, 29077157, 29336616, 29974642, 30132286, 30747085, 30791743, 31642412		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	11920416, 23219833, 28004300, 28934972		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	18172654		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	37328895	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11352231, 25837853, 27542839	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15270863, 15593184, 16385498, 17341304, 18576301, 22377704, 24295447, 24886600, 25105978, 25679449, 26065000, 26125863, 26350950, 28758134, 35680906	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25967362, 27403809	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	21352301, 28934972		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29665127, 30292447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23564641	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15292354, 15939823, 19907187, 21568931, 22965192, 23110639, 25218813, 25323324, 26664786, 28249772, 28279156, 28837646, 28867452, 28882110, 29077157, 29336616, 29974642, 30132286, 30747085, 30791743, 31642412		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17706953, 20961967, 23788300, 25184828, 26184866, 26664786, 28761062, 33817720, 35680906	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17804683		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23666878	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28849089	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	22001292, 28355442, 30658955		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	22001292	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	37532154	Inhibit	★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22791764		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26398902, 30801855		★☆☆☆☆ Found in Text Mining only
Barakat syndrome	Barakat syndrome	Pubtator	26216189	Associate	★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	27826889		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	16287088		★☆☆☆☆ 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
Blindness	Blindness	Pubtator	17352649	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	11274143, 11393778, 11739153, 15238139, 15753532, 16135836, 17996099, 23756197, 24074513, 24676726, 24700654, 25393853, 26094529, 26617755, 26913505, 27310953, 28849089, 29680857, 31183390	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	11739153, 12189164, 12424190, 12965277, 14565645, 17657224, 19016581, 21738662, 21750158, 22023625, 23543663, 24074513, 28674665, 29533303, 30621730, 31757570		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	LHGDN	12619938, 15615493, 17606458		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	19346738	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	15068494, 19346738, 24841655, 27639566, 28260003, 28758134, 37328895, 37751449, 40332270	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	18490014	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	30447607		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	32383346	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	15753366, 19147566, 23336103, 23708710		★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	18634923, 21360521, 21467819, 23388484, 31944625, 36147560	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Resorption	Bone resorption	Pubtator	19627525	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Resorption	Bone resorption	Pubtator	21075196	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Injuries Traumatic	Brain injuries	Pubtator	36403069	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12838418, 16585187, 17471510, 18388919, 18584413, 19577359, 19604388, 20798695, 21734015, 23267146, 23369128, 24976340, 25415928, 25724681, 26054853, 26218592, 26608463, 26798969, 27191503, 27783278, 27893411, 27915435, 27983911, 28002265, 28002811, 28143606, 28173834, 28260080, 28701332, 29081815, 29212847, 29282685, 29512770, 29679262, 30309792, 30348163, 30425091, 30621730, 31217507, 31281099		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16394281, 18546262, 18584413, 23369128, 24026883, 26608463, 27191503, 27270654, 28002811, 28143606, 28387573, 28420351	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19604388	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27893411	Inhibit	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16449517, 17056676, 20004120, 20723612, 22402034, 28056805	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	24586847	Inhibit	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	24743232, 29578045		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34570303	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12838418		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23307318, 36189226, 37990105, 40243557	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26608463		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30005623, 31205545		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26528707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26122176, 31092428, 31181781		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	20723612	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	16288714		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	14508625, 15292302, 21903966, 22001292, 23110639, 24349233, 24923356, 25184828, 25301844, 25323324, 25810067, 27068490, 27490206, 27743302, 28837646, 28867452, 28882110, 29018602, 29303699, 29687784, 29729375, 30270544, 30369329, 31176082		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15648548, 18697793		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22001292, 24699314, 24758546, 25184828, 29303699, 32955941, 37532154	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33081726	Stimulate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	21903966, 30132286		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	LHGDN	18178454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Stenosis	Carotid artery stenosis	Pubtator	18178454, 20004120, 22402034, 33817720, 35680906	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Stenosis	Carotid artery stenosis	CTD_human_DG	26564003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage Diseases	Cartilage disease	Pubtator	35412619	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	29204673		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	29501268	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	18725394, 25814780		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17878722, 28249772, 28837646, 30658955, 31191747		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	22965192, 27874938		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	25184828	Associate	★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis	Chondrocalcinosis	Pubtator	29578045, 35412619	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	22737245	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	16362459, 18624938, 21750158, 28189120, 28318623, 28428481, 28638603, 28683789, 29407881, 29529595, 29974642, 30595681, 30734547, 31049693, 31692972		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	16362459		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	15504545		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21376149, 30005623		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	BEFREE	30830299		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	17711477, 18725394, 20033478, 23304691, 25814780, 28367895, 31183390		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	18727653		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	25814780, 31944625	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19897681		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31944625	Associate	★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	24578613, 25589510, 27509906		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	15753532	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16309167		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21270110, 26942563, 29402836, 29982101		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26942563, 27764814	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34938284, 38049731	Associate	★☆☆☆☆ Found in Text Mining only
Common Carotid Artery Stenosis	Common Carotid Artery Stenosis	CTD_human_DG	26564003		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	19401376		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28244588		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19907187, 27307249, 28967680		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15292302, 16424351, 16712673, 19907187, 21678294, 25679449, 28428481, 28821297, 28837646, 29330256, 29330911, 30132286, 30658955, 30747085, 30991288, 31049693, 31642412		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	15292302, 16424351, 16712673, 19907187, 21678294, 28428481, 28567553, 28821297, 28837646, 29330256, 29330911, 30132286, 30658955, 30696256, 31049693, 31157557, 31642412		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	16123486, 16678184		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21678453, 23788300, 24699314, 25679449, 29330256, 32955941	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28821297	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	26400332	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	37532154	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15292302, 16424351, 16712673, 19907187, 28821297, 28837646, 29330256, 29330911, 30132286, 30658955, 31049693, 31642412		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	18328262		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	23322328	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	23322328, 31693309		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	15544627, 15753532	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18942021, 27639566	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27639566		★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	26184866	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	21683340		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20005786		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	17352649	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11352231, 11393778, 15290725, 17601661, 17996099, 18528653, 18565244, 19073256, 20112374, 21050847, 21259010, 22057548, 22207352, 22380539, 22867712, 24743232, 25383958, 27922673, 28425564, 29104478, 29156945, 29406252, 29540226, 30188218, 30385847, 30623241, 30972968, 31546898		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	18565252		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29721726		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15700136, 17148684, 17944678, 19508593, 21568931, 21913967, 22965192, 23219833, 27491024, 28049653, 28146138, 28255300, 29018602, 29280184, 30747085, 30855435		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	26094529	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15700136, 17148684, 17944678, 19508593, 19907187, 20124547, 21568931, 21913967, 22965192, 23219833, 27491024, 28049653, 28146138, 28255300, 28697041, 29018602, 29280184, 29857981, 30747085, 30855435, 31122190		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17056676, 19502537, 21659498, 25811776, 28787318, 32096548, 33081726	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	17148684		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34487291	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37728820	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23299915, 23302066, 24228244, 25005034, 28761062, 32096548, 33081726, 34487291, 35463988, 37373436, 37838749	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24529565, 27028343, 27111559, 28482269, 29442454, 30343446, 30352039, 31823791		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17148684, 20092902, 23299915, 24228244, 25323324, 26036811, 26112994, 27171030, 27743302, 28255300, 28789654, 29498886, 30132286, 30747085, 31408377		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	20098449		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic Foot	BEFREE	23299915		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	23299915	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	18719882		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21568931		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	21913967		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	24228244		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	24228244, 29115286	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	31435075	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29721726, 30132286		★☆☆☆☆ Found in Text Mining only
Dystonia 12	Dystonia	Pubtator	25063546	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	25256810, 31176082		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15242994, 18978361, 22392486		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	15242994		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	25546658		★☆☆☆☆ Found in Text Mining only
External Carotid Artery Stenosis	External Carotid Artery Stenosis	CTD_human_DG	26564003		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	30496606	Associate	★☆☆☆☆ Found in Text Mining only
Familial calcium pyrophosphate deposition	Chondrocalcinosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial expansile osteolysis	Expansile Osteolysis	BEFREE	17174136		★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	19346738	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28929125, 31292134		★☆☆☆☆ Found in Text Mining only
Freeman-Sheldon syndrome	Freeman-Sheldon Syndrome	BEFREE	30530236		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	GATA2 Deficiency	BEFREE	29581184		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	16512834		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	25978039	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	30498352		★☆☆☆☆ Found in Text Mining only
Generalized osteoporosis	Osteoporosis	BEFREE	26065000		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	22936311, 27862217		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	27163152	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	14504888		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35592520, 38225203	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	12052453		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	27639566		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	32298837	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Conductive	Conductive hearing loss	Pubtator	26216189	Inhibit	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	26216189	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19907187, 27307249, 28967680		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	23788300, 28787318, 28967680	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	16449517, 27003233	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	26494839		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	26494839	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	26494839		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	26494839		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	29330256	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	26664786	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	28260003	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25380323	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	28285639, 29967185, 31454537		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28161839, 31122190		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	26744893	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28161839, 31122190		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	CTD_human_DG	15845617		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	BEFREE	16585187, 19134004, 25063546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalciuria Absorptive 2	Hypercalciuria	Pubtator	18480302	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	19508593		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	30991288		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	20185810, 28494038, 29442454		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29908298		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	23110639		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	30991288		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	29729471		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	16362459, 20808842		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	22185226	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	21940840	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	15207766, 22185226		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	16362459		★☆☆☆☆ Found in Text Mining only
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	BEFREE	12124406, 14672344, 15312251, 15777670, 16135836, 16491292, 16831914, 17001672, 17174136, 17284635, 17352649, 17388729, 22638612, 23322328, 24433001, 25063546, 25108083, 26762549, 27809640, 29080812, 31271743, 31454537, 31655221		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	ORPHANET_DG	12124406		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	27849387, 29895074		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	15223723, 28787318, 37838749	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37532154	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37838749	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12056809, 15223723, 19508593, 21568931, 23110639, 25810067, 27307249, 28077433, 28683789, 28787318, 29785076, 31176082		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	18156213		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30566209		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	26216189	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	LHGDN	15757850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	23307318	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	30043116		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27373854, 28077433, 31729368		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	15753532, 27639566	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24048682, 27639566, 29558031		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	26608463		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34487291	Associate	★☆☆☆☆ Found in Text Mining only
Internal Carotid Artery Stenosis	Internal Carotid Artery Stenosis	CTD_human_DG	26564003		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31101043		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	18584413		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	22965192, 27874938, 28249772, 29501268, 30658955, 31191747		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	15124262, 29850656		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	15124262, 17703334, 18802807		★☆☆☆☆ Found in Text Mining only
Juvenile Paget disease	Paget disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	31767781		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	31426866		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	29996796		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25005034	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31097613		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31881044	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28840836, 29690924, 29872039		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	17970704, 18719882		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	17470718		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	25546658, 28244588, 29785076, 30132289		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19565568, 19728335		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19897681		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	24886600, 27631617	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19565568		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15638385		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22027240, 23666878, 24699314	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23666878, 25609157, 29310535, 31403902		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	23867796		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34938284	Associate	★☆☆☆☆ 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	12838418, 16585187, 17471510, 18388919, 18584413, 19577359, 19604388, 20798695, 21734015, 23267146, 23369128, 24976340, 25415928, 25724681, 26054853, 26218592, 26608463, 26798969, 27191503, 27783278, 27893411, 27983911, 28002265, 28002811, 28143606, 28173834, 28260080, 28701332, 29081815, 29212847, 29282685, 29679262, 30309792, 30348163, 30425091, 30621730, 31217507, 31281099		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	19565568		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30005623, 31205545		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31092428, 31181781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23219833		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11306358, 15389781, 15753366, 15890244, 16651437, 16752412, 17631639, 18684318, 19406240, 20204532, 23219833, 23358109, 23702841, 23708710, 26608463, 27783536, 28373003		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25618371		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	21748518		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16287088, 19147566, 19565568, 19758994, 20166980, 20204532, 20599715, 21270110, 21748518, 26608463, 27783536, 28263839, 28794644, 29109092, 29547583, 30358208, 31092428, 31205545, 31578655		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16309167		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12923331, 17471510, 18252198		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24976340, 26054853, 28143606, 28387573		★☆☆☆☆ 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
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23490134	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30061268		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29721726		★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	28260003, 31454537		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31292134		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25005034, 29303699	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28849089	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21568931, 25218813, 28276564, 28849089, 29077157, 29785076, 30582576		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	16752412, 29212270		★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	15845617		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	27338002	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	27338002		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	22805623, 26798969		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	27310953	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11562486, 11739153, 12424190, 12965277, 14500379, 14565645, 16079895, 17315027, 17657224, 18305214, 20157786, 22614932, 22952578, 23178378, 23420490, 24074513, 24280212, 26608463, 29296887		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11739153, 15238139, 26160841	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	12351414, 18305214		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15308561, 23178378, 24074513, 24280212, 26608463, 26669972	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18208894		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22805623, 26798969, 29920500		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35456036	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	28041995, 29699580		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28041995, 30225627, 31120440, 31392399		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	15982347, 16293880, 19389927		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	27521332		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15504545		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18298349		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	21678453	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29330256, 29736604, 30266917		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	37532154	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	LHGDN	17712025		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21678294		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	29442454		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10702390, 11306358, 15389781, 15753366, 16287088, 16309167, 16572175, 16585187, 18320583, 19604388, 20082321, 20798695, 21748518, 23219833, 23241893, 23369128, 23404437, 23516466, 23867796, 25733814, 26608463, 27336899, 28260080, 28263839, 28420351, 29204705, 29402836, 29680857, 30425091, 31052546, 31092428, 31311890		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	29996796		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25005034	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	23336103		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	31717965		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	22829012, 29246098, 31717965		★☆☆☆☆ Found in Text Mining only
Neurogenic arthropathy	Neurogenic Arthropathy	BEFREE	28356555		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	27826889		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29785076, 31292134		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23516466, 29052177		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20960157, 21568931, 29877745, 30132289, 30904905, 31130918		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31130968	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34487291, 35463988	Associate	★☆☆☆☆ 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	24785095, 28173834		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	11165949, 15312251, 16482498, 17229006, 17284635, 17388729, 22936311, 24988994, 31384515		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	LHGDN	17388729		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	18565252, 19215023, 20723612, 25054223, 29578045, 31165896, 33989379	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19762475	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	20112374, 30972968	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	20112374, 22296645, 28676900, 30972968		★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	14578201, 15238139, 21643971, 21659498, 33768738	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteolysis	Osteolysis	Pubtator	35222398	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteomyelitis	Osteomyelitis	Pubtator	34846723	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	26617755	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	10646108, 11274143, 11281165, 12213850, 12355500, 14508625, 15050896, 16362459, 16550727, 17539720, 17657224, 18388919, 18455228, 19011755, 19040304, 19073256, 19346738, 19897681, 20005786, 20033478, 20808842, 21750093, 21787293, 25203865, 26351115, 27114313, 27491024, 27639566, 27809640, 27849387, 28013554, 28161839, 28163121, 28261305, 28534161, 28580511, 29311931, 29312334, 29330573, 29348072, 29383454, 29401617, 29424771, 29710663, 29808374, 29895074, 29908298, 30069475, 30597968, 30628956, 30914947, 31122190, 31158803, 31306296, 31318102, 31411919, 31581596, 31696592, 31846839, 9108485		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	10646108, 10952716, 11375772, 12181640, 9108485		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	25063546	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	10499489, 10952716, 11237676, 11375772, 11950689, 12181640, 12213850, 15292302, 15978970, 16169783, 16343827, 16512834, 16550727, 16712673, 16949901, 16999948, 17878722, 18455228, 18938269, 19229472, 19346738, 19590040, 20534768, 21050847, 21376149, 21411255, 21678294, 21994215, 22377704, 22952578, 22967165, 23271131, 23329761, 23335067, 23731710, 23837846, 23856613, 24065669, 24067544, 24283361, 24410296, 24457406, 24615112, 24867796, 24975835, 25323794, 25580430, 25738879, 26065000, 26202809, 27301430, 27639566, 27859736, 28161839, 28367895, 28496203, 28534161, 28758134, 28810612, 28849089, 29046115, 29055350, 29253005, 29348072, 29713799, 30001654, 30036771, 30498352, 30572450, 30624097, 30643801, 30695776, 30868952, 31096652, 31158803, 31263627, 31399862, 9108485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	LHGDN	12181640, 12213849, 12584041, 15564564, 18455228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	15068494, 18455228, 19352306, 22377704, 22824048, 23388484, 23731710, 24067544, 24457406, 24615112, 25132170, 25148458, 26065000, 26930606, 27859736, 28260003, 28488893, 28758134, 32096548, 33572979	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	CTD_human_DG	17667143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	19215023, 40332270	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	19877060	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis Postmenopausal	Osteoporosis	Pubtator	27639566	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	17667143		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	12213850, 16343827, 16942925, 23543663, 24065669, 26202809, 28260003, 28367895, 28488893, 28496203, 29253005, 30010081, 30195781, 30735778		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	LHGDN	12213850, 12564836		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	17667143		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17645699, 17982618, 19147566, 19671856, 20082321, 25733814, 28263839, 30355966, 9657524		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17982618, 19671856, 26148858	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18814141		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	15307108, 15504545, 15726648, 15982347, 16293880, 19016581		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	LHGDN	15307108, 15504545		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	15982347	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	16885748, 16974150, 20963600, 25998045, 31121355		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	31092428		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31181781		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	16482498		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23219833		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23219833		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37708964	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	26820620	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	22001292		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	30904905		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical periodontitis	Pubtator	18634923	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	29315650, 29995146, 31011287		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	12390325	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	18624938, 18725394, 20033478, 29889832, 30351474, 31825817		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	11379890, 12390325, 17448630, 17539720, 17944678, 18624938, 18938269, 20033478, 20646949, 22489131, 25203865, 28013554, 28356494, 28904316, 28964840, 30377055, 30580840, 30986096, 31121899, 31581596, 31696592		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	LHGDN	18938269		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	22126345	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	31183390	Stimulate	★☆☆☆☆ Found in Text Mining only
Periostitis	Periostitis	BEFREE	17284635		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	26184866	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	27387019	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28789654, 29018602, 30855435		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	28789654		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	28789654, 29018602		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	28654984, 28914577		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	24058411	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	LHGDN	15630493		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	31414130		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	17667143		★☆☆☆☆ 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		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	15504545, 15726648, 15982347, 16293880, 19389927		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	15504545		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	21738662		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	29895074		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	28654984, 28914577		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11306358, 15753366, 15890244, 16651437, 16752412, 17631639, 18684318, 19406240, 20204532, 23358109, 23702841, 23708710, 26608463, 27783536, 28373003		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11912131, 12054622, 18684318		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16752412, 18684318, 19846944, 26608463	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	21352301, 29137353		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29721726		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	18156213	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31729368		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19455604		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28638603		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29442454		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11352231, 11426018, 11685652, 12734885, 15290725, 15593184, 17601661, 18565244, 20112365, 20231205, 20961791, 22377704, 22867712, 23271131, 24287449, 24886600, 25068378, 25102365, 25105978, 25184828, 25679449, 26065000, 26125863, 27156396, 27894399, 28428481, 28474138, 28534161, 28698901, 28758134, 28993870, 29383454, 29889832, 30188218, 30267788, 30719064, 31209146, 31297563, 31486401, 31514188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12564836, 15290725, 18565244		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	23333834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	27826889		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28815548		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	29402836		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35463988	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	16583245, 28840836		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	11426018, 14730626, 18565244		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30562485, 30628956		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	30447607		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	LHGDN	18311801		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	19040304, 29204673		★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	12096838, 22807154	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31671219		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28742795	Inhibit	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28253327		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28929125, 31292134		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12838418, 25618371, 26608463		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26608463	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30496210	Stimulate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	35463988	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	29694253		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29336616, 30001654		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	28464982		★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	15068494	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	19352306	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	21748518		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	21748518		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32588760	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	21332025		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16104845		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24976340, 30977117		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27015557, 33297339, 34326372, 35631261	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	23867796		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	23867796		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	24923356, 28725213		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	27639566, 31337064		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	CTD_human_DG	19092814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uremia	Uremia	BEFREE	21426505		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15386310, 26608463	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	21132541		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	11274143, 12067713, 18178454	Inhibit	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	18945829, 21659498, 21940840, 23151010, 23302066, 24307842, 25005034, 27336899, 34833374, 37179214, 37728820	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	11950689, 21568931, 30001654, 30736365		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	12213849		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	26664786	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	28787318	Stimulate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	23322328		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	23322328	Associate	★☆☆☆☆ Found in Text Mining only