BMP1 (bone morphogenetic protein 1)

Gene

• Entrez ID: 649
• Gene name: Bone morphogenetic protein 1
• Gene symbol: BMP1
• Synonyms (NCBI Gene): OI13, PCOLC, PCP, PCP2, TLD
• Chromosome: 8
• Chromosome location: 8p21.3
• Summary: This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth facto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs116360985	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs318240762	G>C	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs398122891	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs786205217	T>C	Pathogenic	Intron variant, non coding transcript variant, 3 prime UTR variant
rs786205218	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs786205219	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs786205220	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1422817588	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006060	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006060	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006060	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006060	hsa-miR-29b-3p	Luciferase reporter assay, Microarray, qRT-PCR	19956414
MIRT018244	hsa-miR-335-5p	Microarray	18185580
MIRT054249	hsa-miR-194-5p	Immunohistochemistry, Immunoprecipitation, Luciferase reporter assay, QRTPCR, Western Blot	23584484
MIRT441109	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441109	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT822320	hsa-miR-3202	CLIP-seq
MIRT822321	hsa-miR-3689a-3p	CLIP-seq
MIRT822322	hsa-miR-3689c	CLIP-seq
MIRT822323	hsa-miR-4271	CLIP-seq
MIRT822324	hsa-miR-4436b-3p	CLIP-seq
MIRT822325	hsa-miR-4698	CLIP-seq
MIRT822326	hsa-miR-4725-3p	CLIP-seq
MIRT822327	hsa-miR-4728-5p	CLIP-seq
MIRT822328	hsa-miR-4747-5p	CLIP-seq
MIRT822329	hsa-miR-4761-3p	CLIP-seq
MIRT822330	hsa-miR-564	CLIP-seq
MIRT822331	hsa-miR-1275	CLIP-seq
MIRT822332	hsa-miR-141	CLIP-seq
MIRT822333	hsa-miR-194	CLIP-seq
MIRT822334	hsa-miR-200a	CLIP-seq
MIRT822335	hsa-miR-4525	CLIP-seq
MIRT822336	hsa-miR-4665-5p	CLIP-seq
MIRT822337	hsa-miR-4687-3p	CLIP-seq
MIRT822338	hsa-miR-4723-5p	CLIP-seq
MIRT822339	hsa-miR-604	CLIP-seq
MIRT822340	hsa-miR-625	CLIP-seq
MIRT822341	hsa-miR-637	CLIP-seq
MIRT822342	hsa-miR-647	CLIP-seq
MIRT2181822	hsa-miR-1226	CLIP-seq
MIRT2181823	hsa-miR-1229	CLIP-seq
MIRT2181824	hsa-miR-4520a-3p	CLIP-seq
MIRT2181825	hsa-miR-4733-3p	CLIP-seq
MIRT2435798	hsa-miR-1253	CLIP-seq
MIRT2435799	hsa-miR-128	CLIP-seq
MIRT2435800	hsa-miR-29a	CLIP-seq
MIRT2435801	hsa-miR-29b	CLIP-seq
MIRT2435802	hsa-miR-29c	CLIP-seq
MIRT2435803	hsa-miR-3150a-3p	CLIP-seq
MIRT2435804	hsa-miR-3175	CLIP-seq
MIRT2435805	hsa-miR-3663-3p	CLIP-seq
MIRT822321	hsa-miR-3689a-3p	CLIP-seq
MIRT822322	hsa-miR-3689c	CLIP-seq
MIRT2435806	hsa-miR-4277	CLIP-seq
MIRT2435807	hsa-miR-4434	CLIP-seq
MIRT822324	hsa-miR-4436b-3p	CLIP-seq
MIRT2435808	hsa-miR-4516	CLIP-seq
MIRT822325	hsa-miR-4698	CLIP-seq
MIRT822327	hsa-miR-4728-5p	CLIP-seq
MIRT822329	hsa-miR-4761-3p	CLIP-seq
MIRT2435809	hsa-miR-491-5p	CLIP-seq
MIRT2435810	hsa-miR-939	CLIP-seq
MIRT2435798	hsa-miR-1253	CLIP-seq
MIRT2435799	hsa-miR-128	CLIP-seq
MIRT2485462	hsa-miR-1321	CLIP-seq
MIRT2435800	hsa-miR-29a	CLIP-seq
MIRT2435801	hsa-miR-29b	CLIP-seq
MIRT2435802	hsa-miR-29c	CLIP-seq
MIRT2435803	hsa-miR-3150a-3p	CLIP-seq
MIRT2435804	hsa-miR-3175	CLIP-seq
MIRT822320	hsa-miR-3202	CLIP-seq
MIRT2435805	hsa-miR-3663-3p	CLIP-seq
MIRT822321	hsa-miR-3689a-3p	CLIP-seq
MIRT822322	hsa-miR-3689c	CLIP-seq
MIRT2485463	hsa-miR-3689d	CLIP-seq
MIRT2485464	hsa-miR-3943	CLIP-seq
MIRT822323	hsa-miR-4271	CLIP-seq
MIRT2435806	hsa-miR-4277	CLIP-seq
MIRT2485465	hsa-miR-4419a	CLIP-seq
MIRT2435807	hsa-miR-4434	CLIP-seq
MIRT822324	hsa-miR-4436b-3p	CLIP-seq
MIRT2485466	hsa-miR-4447	CLIP-seq
MIRT2485467	hsa-miR-4472	CLIP-seq
MIRT2485468	hsa-miR-4510	CLIP-seq
MIRT2435808	hsa-miR-4516	CLIP-seq
MIRT822325	hsa-miR-4698	CLIP-seq
MIRT2485469	hsa-miR-4707-5p	CLIP-seq
MIRT822326	hsa-miR-4725-3p	CLIP-seq
MIRT822327	hsa-miR-4728-5p	CLIP-seq
MIRT2485470	hsa-miR-4739	CLIP-seq
MIRT2485471	hsa-miR-4743	CLIP-seq
MIRT822328	hsa-miR-4747-5p	CLIP-seq
MIRT2485472	hsa-miR-4756-5p	CLIP-seq
MIRT822329	hsa-miR-4761-3p	CLIP-seq
MIRT2435809	hsa-miR-491-5p	CLIP-seq
MIRT2485473	hsa-miR-541	CLIP-seq
MIRT822330	hsa-miR-564	CLIP-seq
MIRT2485474	hsa-miR-654-5p	CLIP-seq
MIRT2485475	hsa-miR-759	CLIP-seq
MIRT2435810	hsa-miR-939	CLIP-seq
MIRT2676008	hsa-miR-1200	CLIP-seq
MIRT2435798	hsa-miR-1253	CLIP-seq
MIRT2435799	hsa-miR-128	CLIP-seq
MIRT2676009	hsa-miR-1294	CLIP-seq
MIRT2485462	hsa-miR-1321	CLIP-seq
MIRT2435800	hsa-miR-29a	CLIP-seq
MIRT2435801	hsa-miR-29b	CLIP-seq
MIRT2435802	hsa-miR-29c	CLIP-seq
MIRT2435803	hsa-miR-3150a-3p	CLIP-seq
MIRT2435804	hsa-miR-3175	CLIP-seq
MIRT822320	hsa-miR-3202	CLIP-seq
MIRT2435805	hsa-miR-3663-3p	CLIP-seq
MIRT822321	hsa-miR-3689a-3p	CLIP-seq
MIRT822322	hsa-miR-3689c	CLIP-seq
MIRT2485463	hsa-miR-3689d	CLIP-seq
MIRT2485464	hsa-miR-3943	CLIP-seq
MIRT822323	hsa-miR-4271	CLIP-seq
MIRT2435806	hsa-miR-4277	CLIP-seq
MIRT2676010	hsa-miR-4324	CLIP-seq
MIRT2485465	hsa-miR-4419a	CLIP-seq
MIRT2435807	hsa-miR-4434	CLIP-seq
MIRT822324	hsa-miR-4436b-3p	CLIP-seq
MIRT2485466	hsa-miR-4447	CLIP-seq
MIRT2485467	hsa-miR-4472	CLIP-seq
MIRT2485468	hsa-miR-4510	CLIP-seq
MIRT2435808	hsa-miR-4516	CLIP-seq
MIRT822325	hsa-miR-4698	CLIP-seq
MIRT2485469	hsa-miR-4707-5p	CLIP-seq
MIRT2676011	hsa-miR-4710	CLIP-seq
MIRT822326	hsa-miR-4725-3p	CLIP-seq
MIRT822327	hsa-miR-4728-5p	CLIP-seq
MIRT2485470	hsa-miR-4739	CLIP-seq
MIRT2485471	hsa-miR-4743	CLIP-seq
MIRT822328	hsa-miR-4747-5p	CLIP-seq
MIRT2485472	hsa-miR-4756-5p	CLIP-seq
MIRT822329	hsa-miR-4761-3p	CLIP-seq
MIRT2676012	hsa-miR-4761-5p	CLIP-seq
MIRT2435809	hsa-miR-491-5p	CLIP-seq
MIRT2485473	hsa-miR-541	CLIP-seq
MIRT2676013	hsa-miR-544b	CLIP-seq
MIRT822330	hsa-miR-564	CLIP-seq
MIRT2485474	hsa-miR-654-5p	CLIP-seq
MIRT2485475	hsa-miR-759	CLIP-seq
MIRT2435810	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	NAS	7798260
GO:0001501	Process	Skeletal system development	TAS	3201241
GO:0001502	Process	Cartilage condensation	TAS	3201241
GO:0001503	Process	Ossification	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005125	Function	Cytokine activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19429706, 20026052, 20043912, 20207734, 20979576, 21078975, 23829672, 25543063, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006508	Process	Proteolysis	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008233	Function	Peptidase activity	IDA	12393877
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	TAS	8553073
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	NAS	7798260
GO:0008270	Function	Zinc ion binding	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	TAS
GO:0031982	Component	Vesicle	IEA
GO:0042802	Function	Identical protein binding	IPI	19429706
GO:0046872	Function	Metal ion binding	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0061036	Process	Positive regulation of cartilage development	IDA	3201241

Other IDs

• MIM: 112264
• HGNC: 1067
• e!Ensembl: ENSG00000168487

Protein

• UniProt ID: P13497
• Protein name: Bone morphogenetic protein 1 (BMP-1) (EC 3.4.24.19) (Mammalian tolloid protein) (mTld) (Procollagen C-proteinase) (PCP)
• Protein function: Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins (PubMed:33206546). Thereby participates in seve
• PDB: 3EDG, 3EDH, 6BSL, 6BSM, 6BTN, 6BTO, 6BTP, 6BTQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01400	Astacin	128 → 321	Astacin (Peptidase family M12A)	Domain
  PF00431	CUB	322 → 431	CUB domain	Domain
  PF00431	CUB	435 → 544	CUB domain	Domain
  PF14670	FXa_inhibition	551 → 587		Domain
  PF00431	CUB	591 → 700	CUB domain	Domain
  PF07645	EGF_CA	703 → 743	Calcium-binding EGF domain	Domain
  PF00431	CUB	747 → 856	CUB domain	Domain
  PF00431	CUB	860 → 973	CUB domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYKDPCKAAAFLGDIALDE
  EDLRAFQVQQAVDLRRHTARKSSIKAAVPGNTSTPSCQSTNGQPQRGACGRWRGRSRSRR
  AATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEKHTCVTFLERTDEDSYIVFTY
  RPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVVGFWHEHTRPDRDRHVSIVREN
  IQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIG
  QRTRLSKGDIAQARKLYKCPACGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKI
  ILNFTSLDLYRSRLCWYDYVEVRDGFWRKAPLRGRFCGSKLPEPIVSTDSRLWVEFRSSS
  NWVGKGFFAVYEAICGGDVKKDYGHIQSPNYPDDYRPSKVCIWRIQVSEGFHVGLTFQSF
  EIERHDSCAYDYLEVRDGHSESSTLIGRYCGYEKPDDIKSTSSRLWLKFVSDGSINKAGF
  AVNFFKEVDECSRPNRGGCEQRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNG
  SITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSK
  LHGKFCGSEKPEVITSQYNNMRVEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVN
  TFGSYECQCRSGFVLHDNKHDCKEAGCDHKVTSTSGTITSPNWPDKYPSKKECTWAISST
  PGHRVKLTFMEMDIESQPECAYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGSRMFLR
  FYSDNSVQRKGFQASHATECGGQVRADVKTKDLYSHAQFGDNNYPGGVDCEWVIVAEEGY
  GVELVFQTFEVEEETDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHS
  DDTITKKGFHLRYTSTKFQDTLHSRK

• Sequence length: 986

Pathways

Reactome:

Degradation of the extracellular matrix
Collagen biosynthesis and modifying enzymes
Anchoring fibril formation
Crosslinking of collagen fibrils
HDL assembly

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
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs318240762	RCV001814013	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta	Pathogenic; Likely pathogenic	rs1828459412, rs759100606, rs318240762	RCV005057553 RCV003155840 RCV004690432 RCV004689429	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 13	Likely pathogenic; Pathogenic	rs2131895772, rs2131855526, rs1828459412, rs786205217, rs786205218, rs786205219, rs786205220, rs759100606, rs770454056, rs398122891, rs318240762	RCV001619777 RCV002073405 RCV002073406 RCV000170453 RCV000170454 RCV000170455 RCV000170456 RCV005047680 RCV005040581 RCV000030846 RCV000030847	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BMP1-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 3	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis Imperfecta, Recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIII	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	8700514		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	24380766	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30906778		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	24263212	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	21698246	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	35393474, 36198763	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	14558086, 30320351	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	33250156	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16542506, 26215036	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35731115	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	25790191		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	25790191	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	14532133		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	15358693	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29593597		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30468562	Stimulate	★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	19305382	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	16007344, 17900349, 21249149, 24828823, 27652695, 36054271	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	8404039		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24828823	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	33034913	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	25973542	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly Type B1	Brachydactyly	Pubtator	17668388	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31603107		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21113658, 22118688, 25973542, 26976638, 27806311, 31404982	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	19305382	Stimulate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	21698246, 31090495, 38446374, 39755217	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	26809343	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12237773, 16175182, 18414391, 18422752, 18446370, 20027224, 20844743, 21737876, 23826422, 28423564, 29720137, 34517088	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	17003113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37658413	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30742544		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34110955	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37848987	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33407844	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	24378993	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32960689	Associate	★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	30520120		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	23927997	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	BEFREE	30430582		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23088614, 29044189	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23345625, 29482391, 31545926		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29392143		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	36552777	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28342897		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	25171508	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26072521, 31492296		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	18008360	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20955454, 25820997, 29084595		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12237773, 16769811, 18008360, 18414391, 18422752, 18756595, 20844743, 21387313, 21655089, 23659962, 23969729, 24812030, 25375357, 25393365, 26072521, 26510091, 28299802, 29118272, 29986714, 31089142, 36907526, 37357017	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	36907526	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12492577, 28069929		★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	30930930		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	15358693	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31155610		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniorachischisis	Craniorachischisis	BEFREE	21840926, 22095531		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	31292255, 37890181	Associate	★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	27847137		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	16669849, 28274335, 29069615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	24705252	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	26412030	Associate	★☆☆☆☆ Found in Text Mining only
Dysgnathia complex	Dysgnathia complex	Pubtator	32100971	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24077349, 34360647	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	BEFREE	11986329		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	29953975	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	16368652, 19324947, 23590310, 31626133	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29482391		★☆☆☆☆ Found in Text Mining only
Fraser Syndrome	Fraser syndrome	Pubtator	29197384	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	33189777	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	24726140		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	BEFREE	11381418		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	23748100, 32641001	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	32641001	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19587783, 32234828, 35192123	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25790191		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25790191		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34214250, 36324293, 37848987, 39373720	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to acid maltase deficiency, infantile onset	Glycogen Storage Disease	BEFREE	30214072		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	30602563	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25656619	Associate	★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	29209066		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27357418	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	15358693	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	15358693	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	20863724, 38252872, 39563390	Associate	★☆☆☆☆ Found in Text Mining only
High bone mass osteogenesis imperfecta	High Bone Mass Osteogenesis Imperfecta	Orphanet			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	19346217	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	10903931, 16815889, 16840720	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	16815889, 36810131	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	30430582		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16840720, 20336693	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19587783, 22895257, 23685731	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37887346	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	24625278		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28342897, 29559911, 31580184		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31184526		★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	36198763	Associate	★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	21643693		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	30029277	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	21080955	Associate	★☆☆☆☆ Found in Text Mining only
Langer-Giedion Syndrome	Langer-Giedion Syndrome	BEFREE	7634576, 8404039		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	25596622	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30262802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30262802, 31322275	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12492577		★☆☆☆☆ Found in Text Mining only
Limb Deformities Congenital	Congenital anomaly of limb	Pubtator	25656619	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30963785		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29482391		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23593444, 24778011	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22897816	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	30947262	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	16669849, 29069615, 29656260		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26754771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30742544		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26820911, 31621760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29720137		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29024261		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20955454, 25728678, 30742544, 31603308		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26072521, 31492296		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31404982		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	32160518	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19966297	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29209066		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	38446374	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	16669849, 28274335, 29069615		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31492096		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	1359021		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28772207		★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	10631143, 15940369, 16753021, 21525719, 24705252, 26621707, 27530160, 30429363	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21387313, 31404982, 31492296		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	19129707, 21840926, 21864354, 21901791, 23223018, 24307374, 28718066, 29063958, 29618362, 30579764		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27036124, 32210188	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	40605263	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23439113, 33677096	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23584484		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	18063347		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	32493428	Stimulate	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26561393	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19303468	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27794162	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	22052668, 24419319, 24648371, 25402547, 25656619, 27576954, 27847137, 28068493, 28257626, 30408480		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	25656619, 27576954, 28257626, 33818922	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 3	Osteogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	22052668		★☆☆☆☆ Found in Text Mining only
OSTEOGENESIS IMPERFECTA, TYPE XII	Osteogenesis Imperfecta	BEFREE	25007323		★☆☆☆☆ Found in Text Mining only
OSTEOGENESIS IMPERFECTA, TYPE XIII	Osteogenesis Imperfecta	UNIPROT_DG	22052668, 22482805, 25402547		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIII	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	28513615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIII	Osteogenesis Imperfecta	BEFREE	30408480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIII	Osteogenesis Imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XIII	Osteogenesis Imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteolysis	Osteolysis	Pubtator	25973542	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	24263212	Associate	★☆☆☆☆ Found in Text Mining only
Osteopoikilosis	Osteopoikilosis	Pubtator	27267960	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	25152406, 32967078, 38098042	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30638953		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10846544		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	20340016, 22868198, 37030166	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33034913	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	40244008	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21737876, 26235139, 32009247	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19056927, 23651239, 23969729	Associate	★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	11906051, 20671153, 24717047, 31409231		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	21397208, 27636223		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	27636223	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	25056994	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28068493		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	31090495, 37823262	Associate	★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	18349123		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15988036, 26820911, 31621760		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21456062, 25706341, 25858146, 28426320, 31819067, 36054271	Associate	★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	10806561		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	33250156	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	18063347		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	16840720, 17947237, 19223935, 22718766, 23685731, 23937428, 24375867, 32813135, 38110438	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29289685, 30742544	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	30254217	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28237967		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21387313		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	37302988	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33034913	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	28030800	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27335180, 28274335, 28342897, 30618660, 31580184, 9387886		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30468562	Stimulate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	19620182	Associate	★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	30150951		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	20101694, 21840926		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25471937, 28035402	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	28521453		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29720137		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29668670, 33189777, 35065254, 35856444	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29720137	Stimulate	★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	21764776, 28564608	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	38132395	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29024261		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29024261		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	29024261		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	16669849, 29069615		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35731212	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	22874762, 39768183	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	20870717, 21764776, 22718766, 22895257	Associate	★☆☆☆☆ Found in Text Mining only