BMPR1B (bone morphogenetic protein receptor type 1B)

Gene

• Entrez ID: 658
• Gene name: Bone morphogenetic protein receptor type 1B
• Gene symbol: BMPR1B
• Synonyms (NCBI Gene): ALK-6, ALK6, AMD3, AMDD, BDA1D, BDA2, CDw293
• Chromosome: 4
• Chromosome location: 4q22.3
• Summary: This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone form

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434417	T>A	Pathogenic	Missense variant, coding sequence variant
rs121434418	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434419	G>A	Pathogenic	Missense variant, coding sequence variant
rs745854387	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs775608689	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs863223287	GGACCTAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225041	T>C	Pathogenic	Coding sequence variant, missense variant
rs863225042	G>A	Pathogenic	Stop gained, coding sequence variant
rs869025613	G>A	Pathogenic	Splice acceptor variant
rs869025614	A>C	Pathogenic	Coding sequence variant, missense variant
rs1057521819	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1177728492	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553941890	C>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assay	19738052
MIRT052538	hsa-let-7a-5p	CLASH	23622248
MIRT438479	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT438479	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT661595	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT661594	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT661593	hsa-miR-4705	HITS-CLIP	23824327
MIRT661592	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT661591	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	28214897
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	28214897
MIRT661595	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT661594	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT661593	hsa-miR-4705	HITS-CLIP	23824327
MIRT661592	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT661591	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT756476	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR, Immunoprecipitaion (IP)	38851743
MIRT756479	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Immunoprecipitaion (IP)	38851743
MIRT822831	hsa-miR-1297	CLIP-seq
MIRT822832	hsa-miR-140-3p	CLIP-seq
MIRT822833	hsa-miR-186	CLIP-seq
MIRT822834	hsa-miR-205	CLIP-seq
MIRT822835	hsa-miR-26a	CLIP-seq
MIRT822836	hsa-miR-26b	CLIP-seq
MIRT822837	hsa-miR-302f	CLIP-seq
MIRT822838	hsa-miR-3125	CLIP-seq
MIRT822839	hsa-miR-3160-5p	CLIP-seq
MIRT822840	hsa-miR-3163	CLIP-seq
MIRT822841	hsa-miR-3175	CLIP-seq
MIRT822842	hsa-miR-329	CLIP-seq
MIRT822843	hsa-miR-339-5p	CLIP-seq
MIRT822844	hsa-miR-3607-3p	CLIP-seq
MIRT822845	hsa-miR-362-3p	CLIP-seq
MIRT822846	hsa-miR-3916	CLIP-seq
MIRT822847	hsa-miR-3938	CLIP-seq
MIRT822848	hsa-miR-3941	CLIP-seq
MIRT822849	hsa-miR-4272	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT822851	hsa-miR-4317	CLIP-seq
MIRT822852	hsa-miR-4465	CLIP-seq
MIRT822853	hsa-miR-4639-5p	CLIP-seq
MIRT822854	hsa-miR-4659a-3p	CLIP-seq
MIRT822855	hsa-miR-4659b-3p	CLIP-seq
MIRT822856	hsa-miR-4719	CLIP-seq
MIRT822857	hsa-miR-4729	CLIP-seq
MIRT822858	hsa-miR-4775	CLIP-seq
MIRT822859	hsa-miR-4786-3p	CLIP-seq
MIRT822860	hsa-miR-4789-3p	CLIP-seq
MIRT822861	hsa-miR-4789-5p	CLIP-seq
MIRT822862	hsa-miR-548aa	CLIP-seq
MIRT822863	hsa-miR-603	CLIP-seq
MIRT822864	hsa-miR-670	CLIP-seq
MIRT822834	hsa-miR-205	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT822851	hsa-miR-4317	CLIP-seq
MIRT822854	hsa-miR-4659a-3p	CLIP-seq
MIRT822855	hsa-miR-4659b-3p	CLIP-seq
MIRT1943254	hsa-miR-4708-5p	CLIP-seq
MIRT822856	hsa-miR-4719	CLIP-seq
MIRT822858	hsa-miR-4775	CLIP-seq
MIRT2181997	hsa-miR-1237	CLIP-seq
MIRT2181998	hsa-miR-1248	CLIP-seq
MIRT2181999	hsa-miR-3185	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT822851	hsa-miR-4317	CLIP-seq
MIRT822856	hsa-miR-4719	CLIP-seq
MIRT2182000	hsa-miR-4795-3p	CLIP-seq
MIRT2182001	hsa-miR-651	CLIP-seq
MIRT2384823	hsa-miR-3121-5p	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT2384824	hsa-miR-634	CLIP-seq
MIRT2444839	hsa-miR-3658	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT2444840	hsa-miR-4426	CLIP-seq
MIRT2444841	hsa-miR-4647	CLIP-seq
MIRT2444842	hsa-miR-4662b	CLIP-seq
MIRT2444843	hsa-miR-567	CLIP-seq
MIRT2444839	hsa-miR-3658	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT2444840	hsa-miR-4426	CLIP-seq
MIRT2444841	hsa-miR-4647	CLIP-seq
MIRT2444842	hsa-miR-4662b	CLIP-seq
MIRT2444843	hsa-miR-567	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001502	Process	Cartilage condensation	IEA
GO:0001550	Process	Ovarian cumulus expansion	IEA
GO:0001550	Process	Ovarian cumulus expansion	ISS
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IMP	28214897
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	ISS
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002063	Process	Chondrocyte development	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	NAS	10051328
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	18184661
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IEA
GO:0005515	Function	Protein binding	IPI	10854429, 11266516, 11279102, 11549681, 16127465, 19229295, 21791611, 21976273, 24098149, 24904118, 33308444
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	28214897
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030166	Process	Proteoglycan biosynthetic process	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IMP	18436533
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	12065756, 18184661, 18436533
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	NAS	10051328
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	ISS
GO:0036122	Function	BMP binding	IEA
GO:0036122	Function	BMP binding	IPI	18184661
GO:0042698	Process	Ovulation cycle	IEA
GO:0042698	Process	Ovulation cycle	ISS
GO:0043010	Process	Camera-type eye development	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	TAS	14523231
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	18436533
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18326817
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060348	Process	Bone development	IEA
GO:0060350	Process	Endochondral bone morphogenesis	ISS
GO:0061036	Process	Positive regulation of cartilage development	ISS
GO:0071363	Process	Cellular response to growth factor stimulus	IBA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0098821	Function	BMP receptor activity	IDA	12065756
GO:0098821	Function	BMP receptor activity	IEA
GO:1902043	Process	Positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:1902731	Process	Negative regulation of chondrocyte proliferation	ISS
GO:1990712	Component	HFE-transferrin receptor complex	IC	24904118
GO:1990712	Component	HFE-transferrin receptor complex	IEA

Other IDs

• MIM: 603248
• HGNC: 1077
• e!Ensembl: ENSG00000138696

Protein

• UniProt ID: O00238
• Protein name: Bone morphogenetic protein receptor type-1B (BMP type-1B receptor) (BMPR-1B) (EC 2.7.11.30) (CD antigen CDw293)
• Protein function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD trans
• PDB: 3MDY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01064	Activin_recp	30 → 106	Activin types I and II receptor domain	Domain
  PF08515	TGF_beta_GS	175 → 202	Transforming growth factor beta type I GS-motif	Family
  PF07714	PK_Tyr_Ser-Thr	204 → 491	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEED
  DSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVD
  GPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLI
  EQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEAS
  WFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKS
  MLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISD
  TNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIV
  EEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPAS
  RLTALRVKKTLAKMSESQDIKL

• Sequence length: 502

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Hormone signaling
TGF-beta signaling pathway
Axon guidance
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Fluid shear stress and atherosclerosis

Reactome:

Signaling by BMP

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acromesomelic dysplasia 2B	Pathogenic	rs1553941890	RCV000519599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acromesomelic dysplasia 2C, Hunter-Thompson type	Likely pathogenic	rs1734835445	RCV001291418	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acromesomelic dysplasia 3	Pathogenic; Likely pathogenic	rs863225041, rs863225042, rs745854387, rs121434418, rs863223287, rs2530214673, rs1560671891, rs1553941890, rs1177728492	RCV000201167 RCV000201044 RCV000201128 RCV005222670 RCV000006935 RCV003782784 RCV003789107 RCV000519599 RCV000850360	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BMPR1B-related disorder	Likely pathogenic	rs121434419	RCV003398455	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly type A1D	Pathogenic	rs869025613, rs869025614, rs1553941890	RCV000208781 RCV000208782 RCV000519599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type A2 brachydactyly	Likely pathogenic; Pathogenic	rs121434417, rs121434418, rs121434419, rs2530214673, rs1560671891, rs1553941890	RCV000006933 RCV000006934 RCV000006936 RCV003782784 RCV003789107 RCV000519599	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACROMESOMELIC DYSPLASIA 2A	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BRACHYDACTYLY TYPE A1	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY TYPE A2	—	CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY TYPE C	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1, D	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA, GREBE TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary arterial hypertension	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary arterial hypertension associated with congenital heart disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary hypertension, primary, 3	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia	Acromesomelic dysplasia	Pubtator	15805157, 26105076, 29322508, 29581481	Associate	★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia Hunter-Thompson type	Acromesomelic dysplasia	BEFREE	26105076, 26926249, 29322508, 29581481		★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia Hunter-Thompson type	Acromesomelic dysplasia	CTD_human_DG	29322508		★☆☆☆☆ Found in Text Mining only
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE	Acromesomelic dysplasia	UNIPROT_DG	15805157, 24129431, 26105076		★☆☆☆☆ Found in Text Mining only
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE	Acromesomelic dysplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE	Acromesomelic dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia, Grebe type	Acromesomelic dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18292470		★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	15805157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	BEFREE	25776145, 28473268, 29581481		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly	Brachydactyly	Pubtator	29581481, 33486847	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly	Brachydactyly	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly syndrome type C	Brachydactyly	ORPHANET_DG	16957682		★☆☆☆☆ Found in Text Mining only
Brachydactyly type A1	Brachydactyly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type A2	Brachydactyly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type A2	Brachydactyly	Pubtator	15805157, 16014698, 33486847	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type C	Brachydactyly	BEFREE	16957682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type C	Brachydactyly	ORPHANET_DG	16957682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type C	Brachydactyly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type C	Brachydactyly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	BEFREE	25758993		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	ORPHANET_DG	25758993		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1, D	Brachydactyly	UNIPROT_DG	25758993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1, D	Brachydactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1, D	Brachydactyly	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1, D	Brachydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	UNIPROT_DG	14523231, 16957682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	ORPHANET_DG	14523231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	BEFREE	15805157, 16014698, 16127465, 16957682, 19327734, 24129431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	GENOMICS_ENGLAND_DG	18203755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	17004110, 19738052, 27720933		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19738052, 26684357	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24339876		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	30713213	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30713213		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Grebe type	Chondrodysplasia	Pubtator	26105076	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia, acromesomelic, with genital anomalies	Chondrodysplasia Punctata	CTD_human_DG	15805157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Grebe type	Chondrodysplasia Punctata	ORPHANET_DG	24129431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Grebe type	Chondrodysplasia Punctata	BEFREE	26105076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	31063268	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28990808		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21387313, 37373155	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29192325		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticular Bleeding	Diverticular Bleeding	CTD_human_DG	30177863		★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	CTD_human_DG	30177863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35404759, 35854199	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24339876		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24339876	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34725559	Associate	★☆☆☆☆ Found in Text Mining only
Fibular aplasia-complex brachydactyly syndrome	Fibular Aplasia-Complex Brachydactyly Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibular hypoplasia and complex brachydactyly	Fibular Hypoplasia And Complex Brachydactyly	ORPHANET_DG	26105076		★☆☆☆☆ Found in Text Mining only
Fibular hypoplasia and complex brachydactyly	Fibular Hypoplasia And Complex Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18167341		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18167341		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33116227	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	15192043, 22374147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	22374147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	15192043, 22374147		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	22374147		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28170187		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	29581481	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21084396	Associate	★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	19327734		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23593444	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17004110, 19738052, 27720933		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24339876		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21556765		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21556765, 23091610		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29367682	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21387313, 24339876		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	22957024		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	22957024	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	26805635, 39595984	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31769494		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24339876		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24339876	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34224310	Associate	★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	28418932		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32574161	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	GENOMICS_ENGLAND_DG	15805157		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31769494		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21556765		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17203235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25371445	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	19324947	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35346192	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21387313		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	33596578	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	30470734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1A	Symphalangism	BEFREE	16957682		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	16127465, 25776145		★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	15805157, 26105076	Associate	★☆☆☆☆ Found in Text Mining only