BMP2 (bone morphogenetic protein 2)

Gene

• Entrez ID: 650
• Gene name: Bone morphogenetic protein 2
• Gene symbol: BMP2
• Synonyms (NCBI Gene): BDA2, BMP2A, SSFSC, SSFSC1
• Chromosome: 20
• Chromosome location: 20p12.3
• Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147542801	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149465465	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1057523275	C>T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs1197846053	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555785715	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555786145	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555786156	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1600170070	AG>CC	Pathogenic	Splice acceptor variant
rs1600173184	C>T	Pathogenic	Stop gained, coding sequence variant
rs1600173481	G>A	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017583	hsa-miR-335-5p	Microarray	18185580
MIRT029250	hsa-miR-26b-5p	Microarray	19088304
MIRT053202	hsa-miR-17-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23399447
MIRT053203	hsa-miR-106a-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23399447
MIRT524752	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559196	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT559195	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT524751	hsa-miR-3924	HITS-CLIP	21572407
MIRT524750	hsa-miR-4799-5p	HITS-CLIP	21572407
MIRT524752	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT559196	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT559195	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT524751	hsa-miR-3924	HITS-CLIP	23313552
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT559196	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT559195	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT524751	hsa-miR-3924	PAR-CLIP	20371350
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT559196	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT559195	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT524751	hsa-miR-3924	PAR-CLIP	21572407
MIRT524750	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT524749	hsa-miR-4263	PAR-CLIP	21572407
MIRT524748	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT524751	hsa-miR-3924	PAR-CLIP	23446348
MIRT524750	hsa-miR-4799-5p	PAR-CLIP	23446348
MIRT524749	hsa-miR-4263	PAR-CLIP	23446348
MIRT524748	hsa-miR-576-5p	PAR-CLIP	23446348
MIRT480789	hsa-miR-505-3p	PAR-CLIP	23592263
MIRT480788	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT480787	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT053203	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT053202	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT480786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT480785	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT480784	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT480783	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT480782	hsa-miR-3609	PAR-CLIP	23592263
MIRT480781	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT480780	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT480779	hsa-miR-3153	PAR-CLIP	23592263
MIRT480778	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT480777	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT480776	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT480775	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT480774	hsa-miR-4651	PAR-CLIP	23592263
MIRT480773	hsa-miR-608	PAR-CLIP	23592263
MIRT480772	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT480771	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT480769	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT480770	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT480768	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT480767	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT480766	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT480765	hsa-miR-4463	PAR-CLIP	23592263
MIRT732644	hsa-miR-140-5p	Immunofluorescence, Luciferase reporter assay, RNA-seq, qRT-PCR, Western blotting	33425897
MIRT733082	hsa-miR-223-3p	qRT-PCR	32850849
MIRT733083	hsa-miR-191-5p	qRT-PCR	32850849
MIRT733084	hsa-miR-191-5p	qRT-PCR	32850849
MIRT733329	hsa-let-7a-5p	Luciferase reporter assay, Western blotting	34228237
MIRT733520	hsa-miR-628-5p	Microarray, qRT-PCR, Western blotting	34152611
MIRT733826	hsa-miR-31-3p	qRT-PCR	33828198
MIRT733830	hsa-miR-106a-3p	qRT-PCR	33828198
MIRT735035	hsa-miR-654-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	32898999
MIRT735181	hsa-miR-206	Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	32722078
MIRT735609	hsa-miR-370-3p	RNA-seq, qRT-PCR	32065449
MIRT736528	hsa-miR-142-3p	RNA-seq, ELISA	32989384
MIRT524752	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559196	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT559195	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT524751	hsa-miR-3924	HITS-CLIP	21572407
MIRT524750	hsa-miR-4799-5p	HITS-CLIP	21572407
MIRT524752	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT559196	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT559195	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT524751	hsa-miR-3924	HITS-CLIP	23313552
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT559196	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT559195	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT524751	hsa-miR-3924	PAR-CLIP	20371350
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT559196	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT559195	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT524751	hsa-miR-3924	PAR-CLIP	21572407
MIRT524750	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT524749	hsa-miR-4263	PAR-CLIP	21572407
MIRT524748	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT524752	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT524751	hsa-miR-3924	PAR-CLIP	23446348
MIRT524750	hsa-miR-4799-5p	PAR-CLIP	23446348
MIRT524749	hsa-miR-4263	PAR-CLIP	23446348
MIRT524748	hsa-miR-576-5p	PAR-CLIP	23446348
MIRT480789	hsa-miR-505-3p	PAR-CLIP	23592263
MIRT480788	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT480787	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT053203	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT053202	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT480786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT480785	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT480784	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT480783	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT480782	hsa-miR-3609	PAR-CLIP	23592263
MIRT480781	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT480780	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT480779	hsa-miR-3153	PAR-CLIP	23592263
MIRT480778	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT480777	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT480776	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT480775	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT480774	hsa-miR-4651	PAR-CLIP	23592263
MIRT480773	hsa-miR-608	PAR-CLIP	23592263
MIRT480772	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT480771	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT480769	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT480770	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT480768	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT480767	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT480766	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT480765	hsa-miR-4463	PAR-CLIP	23592263
MIRT756443	hsa-miR-513a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	37118847
MIRT822343	hsa-let-7a	CLIP-seq
MIRT822344	hsa-let-7b	CLIP-seq
MIRT822345	hsa-let-7c	CLIP-seq
MIRT822346	hsa-let-7d	CLIP-seq
MIRT822347	hsa-let-7e	CLIP-seq
MIRT822348	hsa-let-7f	CLIP-seq
MIRT822349	hsa-let-7g	CLIP-seq
MIRT822350	hsa-let-7i	CLIP-seq
MIRT822351	hsa-miR-1245b-3p	CLIP-seq
MIRT822352	hsa-miR-1276	CLIP-seq
MIRT822353	hsa-miR-129-5p	CLIP-seq
MIRT822354	hsa-miR-1299	CLIP-seq
MIRT822355	hsa-miR-202	CLIP-seq
MIRT822356	hsa-miR-3170	CLIP-seq
MIRT822357	hsa-miR-3545-3p	CLIP-seq
MIRT822358	hsa-miR-3611	CLIP-seq
MIRT822359	hsa-miR-378	CLIP-seq
MIRT822360	hsa-miR-378b	CLIP-seq
MIRT822361	hsa-miR-378c	CLIP-seq
MIRT822362	hsa-miR-378d	CLIP-seq
MIRT822363	hsa-miR-378e	CLIP-seq
MIRT822364	hsa-miR-378f	CLIP-seq
MIRT822365	hsa-miR-378h	CLIP-seq
MIRT822366	hsa-miR-378i	CLIP-seq
MIRT822367	hsa-miR-422a	CLIP-seq
MIRT822368	hsa-miR-4311	CLIP-seq
MIRT822369	hsa-miR-4330	CLIP-seq
MIRT822370	hsa-miR-4458	CLIP-seq
MIRT822371	hsa-miR-4500	CLIP-seq
MIRT822372	hsa-miR-4638-3p	CLIP-seq
MIRT822373	hsa-miR-4680-5p	CLIP-seq
MIRT822374	hsa-miR-4782-5p	CLIP-seq
MIRT822375	hsa-miR-516b	CLIP-seq
MIRT822376	hsa-miR-583	CLIP-seq
MIRT822377	hsa-miR-98	CLIP-seq
MIRT1943038	hsa-miR-329	CLIP-seq
MIRT1943039	hsa-miR-3607-5p	CLIP-seq
MIRT1943040	hsa-miR-362-3p	CLIP-seq
MIRT1943041	hsa-miR-3941	CLIP-seq
MIRT1943042	hsa-miR-4731-5p	CLIP-seq
MIRT1943043	hsa-miR-570	CLIP-seq
MIRT1943044	hsa-miR-603	CLIP-seq
MIRT2485476	hsa-miR-3148	CLIP-seq
MIRT2485477	hsa-miR-3647-3p	CLIP-seq
MIRT2485478	hsa-miR-3682-5p	CLIP-seq
MIRT2485479	hsa-miR-3685	CLIP-seq
MIRT2485480	hsa-miR-369-3p	CLIP-seq
MIRT2485481	hsa-miR-374a	CLIP-seq
MIRT2485482	hsa-miR-374b	CLIP-seq
MIRT2485483	hsa-miR-384	CLIP-seq
MIRT2485484	hsa-miR-3978	CLIP-seq
MIRT2485485	hsa-miR-4796-3p	CLIP-seq
MIRT2485486	hsa-miR-548t	CLIP-seq
MIRT1943043	hsa-miR-570	CLIP-seq
MIRT2485487	hsa-miR-633	CLIP-seq
MIRT2485476	hsa-miR-3148	CLIP-seq
MIRT2485477	hsa-miR-3647-3p	CLIP-seq
MIRT2485478	hsa-miR-3682-5p	CLIP-seq
MIRT2485484	hsa-miR-3978	CLIP-seq
MIRT1943043	hsa-miR-570	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DNMT1	Repression	21551187
HEY1	Repression	21945409
NFKB1	Activation	16835229
RELA	Activation	16835229

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19736317
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	9187146
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001501	Process	Skeletal system development	TAS	2315314
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IDA	15150273, 22705305
GO:0001649	Process	Osteoblast differentiation	IDA	15254224, 18436533, 20576608, 23399447
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	15110716
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	18184661
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	ISS
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	17472960
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	8653785
GO:0002062	Process	Chondrocyte differentiation	IDA	16194878
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0003007	Process	Heart morphogenesis	IBA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003129	Process	Heart induction	IDA	19736317
GO:0003129	Process	Heart induction	IEA
GO:0003133	Process	Endodermal-mesodermal cell signaling	IDA	19736317
GO:0003176	Process	Aortic valve development	IEA
GO:0003176	Process	Aortic valve development	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003210	Process	Cardiac atrium formation	IEA
GO:0003210	Process	Cardiac atrium formation	ISS
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0003331	Process	Positive regulation of extracellular matrix constituent secretion	IEA
GO:0003331	Process	Positive regulation of extracellular matrix constituent secretion	ISS
GO:0005102	Function	Signaling receptor binding	TAS	2315314
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005125	Function	Cytokine activity	IMP	27860183
GO:0005125	Function	Cytokine activity	ISS
GO:0005515	Function	Protein binding	IPI	8413626, 8752214, 10881198, 15064755, 16672363, 16771708, 17240342, 18335997, 18339631, 18586671, 19229295, 19804412, 20505824, 20860622, 21054789, 25938661, 31800957, 33308444
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	22227436
GO:0005615	Component	Extracellular space	IDA	16604073
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	15671031
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007267	Process	Cell-cell signaling	TAS	2315314
GO:0007507	Process	Heart development	IDA	18545679
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008083	Function	Growth factor activity	IDA	22227436
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	24778011
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9187146
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	19584291
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	ISS
GO:0009986	Component	Cell surface	IDA	22227436
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	18382765
GO:0010628	Process	Positive regulation of gene expression	IDA	16243309, 22579779, 28124060, 28467929
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IGI	22450430
GO:0010628	Process	Positive regulation of gene expression	IMP	23399447, 27860183
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	23399447
GO:0010629	Process	Negative regulation of gene expression	IDA	28124060
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	20890042
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0010894	Process	Negative regulation of steroid biosynthetic process	IDA	19584291
GO:0010922	Process	Positive regulation of phosphatase activity	IDA	9213002
GO:0019211	Function	Phosphatase activator activity	IDA	9213002
GO:0021537	Process	Telencephalon development	IDA	9187146
GO:0021537	Process	Telencephalon development	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0021978	Process	Telencephalon regionalization	ISS
GO:0022408	Process	Negative regulation of cell-cell adhesion	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	ISS
GO:0030282	Process	Bone mineralization	IEA
GO:0030282	Process	Bone mineralization	ISS
GO:0030316	Process	Osteoclast differentiation	IMP	27860183
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0030501	Process	Positive regulation of bone mineralization	IDA	18436533, 20576608
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8653785, 9389648
GO:0030509	Process	BMP signaling pathway	IDA	16049014, 16771708, 18184661, 18382765, 18436533, 19736317, 20427544, 20843790
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEP	16194878
GO:0030509	Process	BMP signaling pathway	IGI	22450430
GO:0030509	Process	BMP signaling pathway	IMP	17472960
GO:0030509	Process	BMP signaling pathway	IMP	17992660, 18326817, 19664780, 24778011, 27860183
GO:0030509	Process	BMP signaling pathway	ISS	8653785
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IGI	28467929
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0031648	Process	Protein destabilization	IEA
GO:0032348	Process	Negative regulation of aldosterone biosynthetic process	IDA	19584291
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	ISS
GO:0035051	Process	Cardiocyte differentiation	IDA	15110716
GO:0035051	Process	Cardiocyte differentiation	IMP	19736317
GO:0035054	Process	Embryonic heart tube anterior/posterior pattern specification	IEA
GO:0035054	Process	Embryonic heart tube anterior/posterior pattern specification	ISS
GO:0035360	Process	Positive regulation of peroxisome proliferator activated receptor signaling pathway	IGI	28467929
GO:0036305	Process	Ameloblast differentiation	IEA
GO:0039706	Function	Co-receptor binding	IEA
GO:0039706	Function	Co-receptor binding	IPI	16604073, 18335997
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0042482	Process	Positive regulation of odontogenesis	IEA
GO:0042482	Process	Positive regulation of odontogenesis	ISS
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	9187146
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	22540193
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	22227436
GO:0043539	Function	Protein serine/threonine kinase activator activity	IEA
GO:0043569	Process	Negative regulation of insulin-like growth factor receptor signaling pathway	IDA	19584291
GO:0045165	Process	Cell fate commitment	IEA
GO:0045165	Process	Cell fate commitment	ISS
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IDA	23399447
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045778	Process	Positive regulation of ossification	IDA	9213002
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045786	Process	Negative regulation of cell cycle	IDA	11502704
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	15254224
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16049014, 16243309
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9187146
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16433617, 16604073, 19736317, 20843790, 20890042
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	18326817
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IDA	18382765
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IGI	28467929
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	ISS
GO:0048762	Process	Mesenchymal cell differentiation	IDA	9693150
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0051042	Process	Negative regulation of calcium-independent cell-cell adhesion	IDA	16194878
GO:0051148	Process	Negative regulation of muscle cell differentiation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IMP	21311046
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0060039	Process	Pericardium development	IEA
GO:0060039	Process	Pericardium development	ISS
GO:0060128	Process	Corticotropin hormone secreting cell differentiation	IEA
GO:0060128	Process	Corticotropin hormone secreting cell differentiation	ISS
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	IEA
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	ISS
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IDA	18184661
GO:0060348	Process	Bone development	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	18382765
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	16049014, 18184661, 20427544
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	17992660, 19664780, 24778011
GO:0060426	Process	Lung vasculature development	IEA
GO:0060426	Process	Lung vasculature development	IMP	17992660
GO:0060485	Process	Mesenchyme development	IMP	20890042
GO:0060537	Process	Muscle tissue development	IEA
GO:0061036	Process	Positive regulation of cartilage development	IDA	3201241
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	22540193
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	19664780
GO:0070700	Function	BMP receptor binding	IDA	7811286
GO:0070700	Function	BMP receptor binding	IEA
GO:0070700	Function	BMP receptor binding	IPI	18184661
GO:0070724	Component	BMP receptor complex	IDA	16604073
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0072138	Process	Mesenchymal cell proliferation involved in ureteric bud development	IEA
GO:0072138	Process	Mesenchymal cell proliferation involved in ureteric bud development	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18545679
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEP	17202865
GO:0150005	Component	Enzyme activator complex	IDA	31800957
GO:1900159	Process	Positive regulation of bone mineralization involved in bone maturation	IDA	16433617
GO:1900745	Process	Positive regulation of p38MAPK cascade	IDA	22540193
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1901331	Process	Positive regulation of odontoblast differentiation	IEA
GO:1901331	Process	Positive regulation of odontoblast differentiation	ISS
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
GO:1905072	Process	Cardiac jelly development	IEA
GO:1905072	Process	Cardiac jelly development	ISS
GO:1905222	Process	Atrioventricular canal morphogenesis	IEA
GO:1905222	Process	Atrioventricular canal morphogenesis	ISS
GO:2000065	Process	Negative regulation of cortisol biosynthetic process	IDA	19584291
GO:2000725	Process	Regulation of cardiac muscle cell differentiation	IEA
GO:2000726	Process	Negative regulation of cardiac muscle cell differentiation	IDA	18545679

Other IDs

• MIM: 112261
• HGNC: 1069
• e!Ensembl: ENSG00000125845

Protein

• UniProt ID: P12643
• Protein name: Bone morphogenetic protein 2 (BMP-2) (Bone morphogenetic protein 2A) (BMP-2A)
• Protein function: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis (PubMed:18436533, PubMed:24362451, PubMed:31019025). Induces cartilage and bone formati
• PDB: 1ES7, 1REU, 1REW, 2GOO, 2H62, 2H64, 2QJ9, 2QJA, 2QJB, 3BK3, 3BMP, 4MID, 4N1D, 4UHY, 4UHZ, 4UI0, 4UI1, 4UI2, 6OMN, 7AG0, 8E3G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	35 → 267	TGF-beta propeptide	Family
  PF00019	TGF_beta	295 → 395	Transforming growth factor beta like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Particularly abundant in lung, spleen and colon and in low but significant levels in heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, prostate, ovary and small intestine.
• Sequence:

  MVAGTRCLLALLLPQVLLGGAAGLVPELGRRKFAAASSGRPSSQPSDEVLSEFELRLLSM
  FGLKQRPTPSRDAVVPPYMLDLYRRHSGQPGSPAPDHRLERAASRANTVRSFHHEESLEE
  LPETSGKTTRRFFFNLSSIPTEEFITSAELQVFREQMQDALGNNSSFHHRINIYEIIKPA
  TANSKFPVTRLLDTRLVNQNASRWESFDVTPAVMRWTAQGHANHGFVVEVAHLEEKQGVS
  KRHVRISRSLHQDEHSWSQIRPLLVTFGHDGKGHPLHKREKRQAKHKQRKRLKSSCKRHP
  LYVDFSDVGWNDWIVAPPGYHAFYCHGECPFPLADHLNSTNHAIVQTLVNSVNSKIPKAC
  CVPTELSAISMLYLDENEKVVLKNYQDMVVEGCGCR

• Sequence length: 396

Pathways

KEGG:

Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway
Pathways in cancer
Basal cell carcinoma

Reactome:

Signaling by BMP
Molecules associated with elastic fibres
Transcriptional regulation by RUNX2

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
Atrial septal defect 1	Pathogenic	rs2514427148	RCV002280334	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BMP2-related disorder	Likely pathogenic	rs2514427113, rs2514530688	RCV003420900 RCV003899094	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dextro-looped transposition of the great arteries	Pathogenic	rs2514427047	RCV002280333	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	Pathogenic; Likely pathogenic	rs2514426566, rs1057523275, rs1555785715, rs1555786156, rs1600173184, rs1600173481	RCV005863787 RCV000755726 RCV000584741 RCV000584742 RCV001007950 RCV001027857	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Likely pathogenic; Pathogenic	rs1236079340, rs886043711, rs2514426253, rs2514530484, rs1555785715, rs1555786145, rs1600170070, rs1555786156, rs1600173184	RCV002273175 RCV003140409 RCV003236653 RCV003318323 RCV001800810 RCV001800811 RCV001800812 RCV001800813 RCV004594239	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type A2 brachydactyly	Pathogenic	rs2514426566	RCV005863787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular septal defect 1	Pathogenic	rs2514427081	RCV003485931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
20P12.3 MICRODELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMBLYOPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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 A2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis 7	risk factor	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON METABOLISM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	confers sensitivity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATENT DUCTUS ARTERIOSUS 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDA1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT VENTRICLE HYPOPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ 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
20p12.3 microdeletion syndrome	20p12.3 microdeletion syndrome	ORPHANET_DG	18812404, 21671386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
20p12.3 microdeletion syndrome	20p12.3 microdeletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acrocephaly	Acrocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12801531		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	27983534		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16122479		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23298487		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	19584291		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	12872164, 24252778		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	18775522, 21671386		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille syndrome	Pubtator	21671386	Associate	★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	18854600, 27780042	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	27780042		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26563344		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	20679527	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	25835314, 26413886, 28303752, 30911810, 31024000, 31713925		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	27362534	Associate	★☆☆☆☆ Found in Text Mining only
Anterior Cruciate Ligament Injuries	Anterior cruciate ligament injury	Pubtator	27208419	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	30602018		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	33757126	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	34494136	Associate	★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	27339175		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17074310, 29750899, 30102472, 30354214		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	10772237, 20008919, 29849774		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	14558086	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	14558086, 26215036, 31178673	Associate	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23564641	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17074310, 29750899, 30102472, 30354214		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30102472	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30713213, 37629118	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	21563298, 29540665		★☆☆☆☆ Found in Text Mining only
Atrophy of testis	Testicular atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15942943		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	32968094	Associate	★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	17003113		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	15042598		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	33247540	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	16753015, 18389292, 23927997, 30563251	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	CTD_human_DG	22023753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	BEFREE	27984825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone neoplasms	Bone neoplasms	BEFREE	30464502		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Brachydactyly type A2	Brachydactyly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type A2	Brachydactyly	Pubtator	24710560	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	BEFREE	16014698, 16127465, 19327734, 24710560, 29129813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	ORPHANET_DG	19327734, 24710560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	GENOMICS_ENGLAND_DG	29129813, 29198724		★★☆☆☆ 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	10623428, 10815762, 11786386, 12206515, 12620973, 16010421, 17004110, 18446370, 19123988, 21996751, 22735990, 23456474, 24866720, 25601208, 30936719		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10815762, 12072396, 24337772, 25070479, 25601208, 27740625, 27806311, 34983451	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	10903423	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16505034, 18179800, 20845893, 21278777, 21531376, 21907184, 22874762, 23316327, 24758513, 25275309, 26555788, 28134597, 29361851, 31090495, 32498363, 34954251, 34980138, 35955575	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	27983534, 34983451	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	18446370	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12819188, 16122479, 16314833, 24758513, 29306659, 29581780		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	17003113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18326817, 22799302	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24573607	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12819188, 19324447, 21885439, 23298487, 24946687, 9683824		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	16421595, 20587070	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34110955	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	17876328	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22496405, 25797254	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30912211		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	16122479		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16421595, 20587070		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30936719		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27862237		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	12681954, 26123554, 35313742	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	11781009		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	12872164, 24252778		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	11981380, 23927997		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	23927997	Associate	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	23760978		★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	23760978	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis	Chondrocalcinosis	Pubtator	28377507	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	18720410, 19038372		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	19038372, 21951664		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15870693		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	25562153, 29850574, 31090495, 31292298		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	30624092		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	24589633	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	21671386, 22965927, 24589633, 31262291	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	30165865		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	18812404		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35733095	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17942918, 21847367, 24993644, 26124007, 29457276		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20949628, 21551187, 21655089, 22367214, 22879968, 23537995, 24993644, 29457276		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16769811, 20949628, 21387313, 21655089, 22367214, 26124007, 27107574, 29297384, 29986714, 31137244, 33078631, 34959120, 36657129	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17919499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	30510241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36849876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	29198724		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22275155, 25797254		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15851600, 28460577, 28558956		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28460577, 28558956		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27357418, 28460577, 28558956		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	27983534	Stimulate	★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	34980138	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	23160099, 26910679, 27606499, 35627201	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	22547067, 28648641, 28985029, 30796334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG	23160099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	29375051	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24957638, 25776852, 26071314, 26395178, 28202082, 28243085, 28419987, 29429984, 29575932, 29665134, 31771623		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	28272237, 28716569		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	27146352		★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	29489425, 30838560		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34341332	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22965927, 36849876	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27355188, 28069556, 28337879		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27355188, 28069556, 28337879, 29857981, 31090495		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31090495	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34494136	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27515773, 30102472, 34494136	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22023960, 30387830, 31436339		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27515773, 27702654, 30102472		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10744662, 20546278		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	29198724		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	18812404		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	34517088	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	24077349, 34360647	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	16421595, 20587070		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33650665	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	16368652	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	21084396		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29789683		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	25558173		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	30677397	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19587783, 28687190		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19587783, 20617365	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19587783, 28687190, 31483918		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18492260, 25099618, 33116227, 39373720	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36647967	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	35306494	Associate	★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	24689977		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33247540	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33247540	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	22340493		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	28377507	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	17847004	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	BEFREE	31778583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	GENOMICS_ENGLAND_DG	29198724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	31778583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	34983451	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16314833		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	28517970		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	27196063		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24551273, 31849612		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24551273	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	31412315		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	31487971		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	30189026		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29390526	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	12740218	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18382765, 29390526		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	32790806	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	23079991		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	28586151		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	25984907		★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	25394514		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	16368652, 18382765, 19782107, 28467929, 29449428		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	16357305, 16368652, 19782107		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	22275155		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18812404, 28903487		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29375051		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	17669279, 22023960, 30387830, 31436339		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33677096	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	29361851, 33677096	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	22023960, 30387830, 31436339		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	22323359		★☆☆☆☆ Found in Text Mining only
Isolated hypoplasia of the right ventricle	Isolated right ventricular hypoplasia	CTD_human_DG	29800642		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	28586151		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	18160401		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	22496405		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30119977, 31007833		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	37875354	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21084396, 25596622	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24100446	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28373172		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30262802	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24573607, 27886213, 31387619		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25805936	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16380505, 23298487, 24778011, 24946687	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21885439		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22897816	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24946687	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	30799697		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	10492144		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10623428, 10815762, 11786386, 12206515, 12620973, 17004110, 18446370, 19123988, 21996751, 22735990, 23456474, 24866720, 25601208, 30936719		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20885449		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12819188, 19324447, 21885439, 23298487, 24946687		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17876328		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15042598, 16391828, 18942118, 23262982, 28800317, 30013089, 30050142, 8146069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16314833		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21551187, 25448881, 25698539, 26872374, 31298369		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11287276, 18446370, 21178508, 21885439, 21996751, 22275155, 22735990, 23298487, 23900689, 24480809, 24866720, 24946687, 25391427, 28035402, 29477370, 30159139, 30464502, 30556328		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	11411255, 11642720, 23423222, 27494873		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17942918, 21847367, 24993644, 26124007, 29457276		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10815762, 28659032, 30534026		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12535648, 19123988		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	12872164, 24252778		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16645588	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28704392	Inhibit	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	10492144		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29716947		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)	3M Syndrome	BEFREE	30980518		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	9042799	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	37590989	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10979940, 20679527, 36717825	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16030194, 20679527, 28489849, 29028819, 29944867		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24080309		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30553833	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28778435		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	16753015, 17002564	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22250017		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28460577, 29885685		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28460577, 28962818		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	33546766	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	19927351, 21403850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	19927351	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	CTD_human_DG	23396134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis Ossificans	Myositis	Pubtator	31745065, 9042799	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28455969, 31436339		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28455969	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10492144, 12819188, 16010421, 16122479, 16964430, 19123988, 19773112, 19834515, 20074910, 21178508, 21387313, 21551187, 22275155, 22711074, 22735990, 23298487, 24100446, 24480809, 24946687, 24993644, 25359431, 25601208, 25797254, 27780042, 27886213, 28109670, 28264040, 28286322, 28659032, 29457276, 29733987, 30464502, 30534026, 30737824, 31387619		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	26317783		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	11411255, 11642720		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	LHGDN	11642720		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19889495, 27112178		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33677096	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	23423222, 28767180		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	23423222, 27494873	Associate	★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	31436339		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12819188, 16122479, 24946687, 28574846		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	31400571		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	30936719		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27515773, 29763838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	27515773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	BEFREE	27515773		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	25558173		★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	BEFREE	19439426		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	29339669	Associate	★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	27780042		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	23079991		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	28469774, 28883412		★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	18389292, 21210088, 25191703		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	12681954, 15334463, 18389292, 19404930, 22513174, 23671648, 25430712, 26071314, 26395178, 26636769, 27208419, 32329819, 35313742, 35896673	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26123554, 29429984	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	24559391		★☆☆☆☆ Found in Text Mining only
Osteochondrosis	Osteochondrosis	BEFREE	30074186		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	33410269	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	19330390	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	17500060, 21645651, 26244796, 27696501, 28619686, 28988712, 29192408, 30154422, 30159139, 31129811, 31136804		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	11437329, 14691541, 16131431, 16753015, 17002564, 18426824, 22036911, 25232676, 25640452, 25776852, 25900371, 27512956, 29567197, 30154422, 30159139, 30221712, 30788762, 30950569, 31235259, 31551149, 31771161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	LHGDN	14691541, 18426824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	14691541, 16753015, 17002564, 18389292, 32329818, 32967078	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	31235259, 31602244		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10814523, 16259979, 16328004, 16470222, 21178508, 21951664, 22275155, 23262982, 23900689, 24492129, 24723453, 25391427, 28264040, 29442285, 30464502, 30737824, 31186756, 7641470, 9069169, 9874511		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	13678785		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25391427, 35806417	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33034913	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	28401163, 30188470		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	18021008, 24492129		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	LHGDN	18021008		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	Pubtator	18021008	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	25359431		★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	24689977		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24689977		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20587070, 26621735, 34517088	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17876328		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19056927, 20848249, 22652796, 29157747, 38059889	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	29303912		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31000327		★☆☆☆☆ Found in Text Mining only
Paroxysmal supraventricular tachycardia	Paroxysmal supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Perimembranous ventricular septal defect	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30933774		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	27082954, 31090495	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27082954, 31090495		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	CTD_human_DG	27082954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	30413887		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	BEFREE	15102076		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	28747434		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Preexcitation Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	22340493		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	25359431		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15042598, 16391828, 18942118, 28800317, 30013089, 30050142, 8146069		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15042598, 16126463, 16391828, 18512729		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18942118, 19811499, 20537156, 20865693, 28800317, 30013089, 33197890	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21387313		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30810639		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22275155, 25797254		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	24585058		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14558086, 27865758, 30810639		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	22133875		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	31376251		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	23160099, 26910679		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	25984907	Associate	★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	31178673	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	17943972		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	19927351		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES	Short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomalies	GENOMICS_ENGLAND_DG	24289245, 29129813, 29198724		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES	Short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomalies	CLINVAR_DG	29198724		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	24559391		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	30165865		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30464502		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	23316327		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	28586151		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	29733987		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	33410269, 33935961, 36803548	Associate	★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	BEFREE	28652196		★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11287276, 16122479, 20074910		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22024838, 25271422, 28035402, 34445087	Associate	★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	29716947		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	25984907		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21551187, 24283885, 25448881, 25698539, 26872374, 31298369		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16314833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	22359486, 25448881, 26872374, 31298369, 35856444	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	27636990	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	BEFREE	16127465, 19439426		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	27905670, 30275449		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	15942943, 26344711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	23276457		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	11411255, 11642720		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	BEFREE	29269312, 31112357		★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	19584291		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	12163415, 21671386, 22965927		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	CTD_human_DG	19092814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Fibroids	Uterine Fibroids	BEFREE	21084396		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	18179800, 21325271, 29895327, 34954251	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	28790014		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	26317783	Associate	★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	18775522, 18812404		★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only