TGFB2 (transforming growth factor beta 2)

Gene

• Entrez ID: 7042
• Gene name: Transforming growth factor beta 2
• Gene symbol: TGFB2
• Synonyms (NCBI Gene): G-TSF, LDS4, TGF-beta2
• Chromosome: 1
• Chromosome location: 1q41
• 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
rs10482810	G>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs11466408	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs387907278	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs398122884	ACAAT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs398122885	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs730880221	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs863223790	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs863223792	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs863223793	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs863223795	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs863223796	A>-,AA	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs863223797	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869025531	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs869025533	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869312903	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1057518029	A>G	Likely-pathogenic	Splice acceptor variant
rs1057518597	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057518684	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057521150	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793278	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796256	AA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1436552875	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1553303161	TCAA>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553303203	CGGCGGAAGA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553303213	G>A	Not-provided, likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs1553303221	G>A	Pathogenic	Splice donor variant
rs1553303352	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553303357	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1571902862	TATAAAGT>A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1571904218	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1571904338	G>A	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002285	hsa-miR-141-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	18483486
MIRT006058	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006058	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006058	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT017363	hsa-miR-335-5p	Microarray	18185580
MIRT019708	hsa-miR-375	Microarray	20215506
MIRT030844	hsa-miR-21-5p	Microarray	18591254
MIRT437425	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	24465609
MIRT006058	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT006058	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT652742	hsa-miR-619-3p	HITS-CLIP	23824327
MIRT652741	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT652740	hsa-miR-3690	HITS-CLIP	23824327
MIRT652739	hsa-miR-378a-3p	HITS-CLIP	23824327
MIRT652738	hsa-miR-378b	HITS-CLIP	23824327
MIRT652737	hsa-miR-378c	HITS-CLIP	23824327
MIRT652736	hsa-miR-378d	HITS-CLIP	23824327
MIRT652735	hsa-miR-378e	HITS-CLIP	23824327
MIRT652734	hsa-miR-378f	HITS-CLIP	23824327
MIRT652733	hsa-miR-378h	HITS-CLIP	23824327
MIRT652732	hsa-miR-378i	HITS-CLIP	23824327
MIRT652731	hsa-miR-422a	HITS-CLIP	23824327
MIRT652730	hsa-miR-3661	HITS-CLIP	23824327
MIRT652729	hsa-miR-631	HITS-CLIP	23824327
MIRT652728	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT652727	hsa-miR-5009-5p	HITS-CLIP	23824327
MIRT652726	hsa-miR-8058	HITS-CLIP	23824327
MIRT652725	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT652724	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT652723	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT731238	hsa-miR-193a-3p	Luciferase reporter assay	26822621
MIRT731238	hsa-miR-193a-3p	Luciferase reporter assay	26822621
MIRT734384	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR	27842518
MIRT732234	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27267902
MIRT732234	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27267902
MIRT002285	hsa-miR-141-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	28115163
MIRT002285	hsa-miR-141-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	28115163
MIRT652739	hsa-miR-378a-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	27855367
MIRT652739	hsa-miR-378a-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	27855367
MIRT030844	hsa-miR-21-5p	Luciferase reporter assay	27388239
MIRT734338	hsa-miR-23a-3p	Microarray, qRT-PCR	31611205
MIRT734341	hsa-miR-34a-5p	Microarray, qRT-PCR	31611205
MIRT734384	hsa-miR-199a-5p	qRT-PCR, ELISA	34185228
MIRT734401	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, RNA-seq, Western blotting	33100909
MIRT734401	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, RNA-seq, Western blotting	33100909
MIRT732234	hsa-miR-200a-3p	Microarray, ELISA	32564748
MIRT736690	hsa-miR-33a-3p	Microarray, ELISA	32564748
MIRT736708	hsa-miR-599	Luciferase reporter assay, Western blotting, qRT-PCR	33819188
MIRT006058	hsa-miR-29b-3p	Western blotting, qRT-PCR	31850164
MIRT737425	hsa-miR-324-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), RNA-seq, qRT-PCR	31858815
MIRT652742	hsa-miR-619-3p	HITS-CLIP	23824327
MIRT652741	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT652740	hsa-miR-3690	HITS-CLIP	23824327
MIRT652739	hsa-miR-378a-3p	HITS-CLIP	23824327
MIRT652738	hsa-miR-378b	HITS-CLIP	23824327
MIRT652737	hsa-miR-378c	HITS-CLIP	23824327
MIRT652736	hsa-miR-378d	HITS-CLIP	23824327
MIRT652735	hsa-miR-378e	HITS-CLIP	23824327
MIRT652734	hsa-miR-378f	HITS-CLIP	23824327
MIRT652733	hsa-miR-378h	HITS-CLIP	23824327
MIRT652732	hsa-miR-378i	HITS-CLIP	23824327
MIRT652731	hsa-miR-422a	HITS-CLIP	23824327
MIRT652730	hsa-miR-3661	HITS-CLIP	23824327
MIRT652729	hsa-miR-631	HITS-CLIP	23824327
MIRT652728	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT652727	hsa-miR-5009-5p	HITS-CLIP	23824327
MIRT652726	hsa-miR-8058	HITS-CLIP	23824327
MIRT652725	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT652724	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT652723	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT755374	hsa-miR-6766-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34930304
MIRT734401	hsa-miR-7-5p	Luciferase reporter assay, Western blotting, qRT-PCR	35251919
MIRT734384	hsa-miR-199a-5p	qRT-PCR	34185228
MIRT1421127	hsa-miR-4320	CLIP-seq
MIRT1421128	hsa-miR-1193	CLIP-seq
MIRT1421129	hsa-miR-1290	CLIP-seq
MIRT1421130	hsa-miR-129-5p	CLIP-seq
MIRT1421131	hsa-miR-1305	CLIP-seq
MIRT1421132	hsa-miR-134	CLIP-seq
MIRT1421133	hsa-miR-141	CLIP-seq
MIRT1421134	hsa-miR-200a	CLIP-seq
MIRT1421135	hsa-miR-216a	CLIP-seq
MIRT1421136	hsa-miR-2278	CLIP-seq
MIRT1421137	hsa-miR-29a	CLIP-seq
MIRT1421138	hsa-miR-29b	CLIP-seq
MIRT1421139	hsa-miR-29c	CLIP-seq
MIRT1421140	hsa-miR-3074-5p	CLIP-seq
MIRT1421141	hsa-miR-3118	CLIP-seq
MIRT1421142	hsa-miR-3613-3p	CLIP-seq
MIRT1421143	hsa-miR-3616-5p	CLIP-seq
MIRT1421144	hsa-miR-3647-5p	CLIP-seq
MIRT1421145	hsa-miR-3663-3p	CLIP-seq
MIRT1421146	hsa-miR-3688-3p	CLIP-seq
MIRT1421147	hsa-miR-371-5p	CLIP-seq
MIRT1421148	hsa-miR-371b-5p	CLIP-seq
MIRT1421149	hsa-miR-4261	CLIP-seq
MIRT1421150	hsa-miR-4282	CLIP-seq
MIRT1421151	hsa-miR-4436b-5p	CLIP-seq
MIRT1421152	hsa-miR-4502	CLIP-seq
MIRT1421153	hsa-miR-4506	CLIP-seq
MIRT1421154	hsa-miR-4528	CLIP-seq
MIRT1421155	hsa-miR-4698	CLIP-seq
MIRT1421156	hsa-miR-4795-5p	CLIP-seq
MIRT1421157	hsa-miR-573	CLIP-seq
MIRT1421158	hsa-miR-607	CLIP-seq
MIRT1421159	hsa-miR-617	CLIP-seq
MIRT1421160	hsa-miR-629	CLIP-seq
MIRT1421161	hsa-miR-943	CLIP-seq
MIRT1421132	hsa-miR-134	CLIP-seq
MIRT1421141	hsa-miR-3118	CLIP-seq
MIRT1421143	hsa-miR-3616-5p	CLIP-seq
MIRT1421144	hsa-miR-3647-5p	CLIP-seq
MIRT1421156	hsa-miR-4795-5p	CLIP-seq
MIRT1421157	hsa-miR-573	CLIP-seq
MIRT1421159	hsa-miR-617	CLIP-seq
MIRT1421161	hsa-miR-943	CLIP-seq
MIRT1923015	hsa-miR-3655	CLIP-seq
MIRT1923016	hsa-miR-3977	CLIP-seq
MIRT1421150	hsa-miR-4282	CLIP-seq
MIRT1923017	hsa-miR-578	CLIP-seq
MIRT1923018	hsa-miR-593	CLIP-seq
MIRT2126348	hsa-miR-148a	CLIP-seq
MIRT2126349	hsa-miR-148b	CLIP-seq
MIRT2126350	hsa-miR-152	CLIP-seq
MIRT2126351	hsa-miR-361-5p	CLIP-seq
MIRT2126352	hsa-miR-4289	CLIP-seq
MIRT1421154	hsa-miR-4528	CLIP-seq
MIRT2126353	hsa-miR-616	CLIP-seq
MIRT2126354	hsa-miR-656	CLIP-seq
MIRT1421154	hsa-miR-4528	CLIP-seq
MIRT1421132	hsa-miR-134	CLIP-seq
MIRT2395708	hsa-miR-25	CLIP-seq
MIRT1421141	hsa-miR-3118	CLIP-seq
MIRT2395709	hsa-miR-32	CLIP-seq
MIRT1421143	hsa-miR-3616-5p	CLIP-seq
MIRT2395710	hsa-miR-363	CLIP-seq
MIRT1421144	hsa-miR-3647-5p	CLIP-seq
MIRT2395711	hsa-miR-367	CLIP-seq
MIRT1421150	hsa-miR-4282	CLIP-seq
MIRT2126352	hsa-miR-4289	CLIP-seq
MIRT1421154	hsa-miR-4528	CLIP-seq
MIRT1421156	hsa-miR-4795-5p	CLIP-seq
MIRT1421157	hsa-miR-573	CLIP-seq
MIRT2126353	hsa-miR-616	CLIP-seq
MIRT1421159	hsa-miR-617	CLIP-seq
MIRT2395712	hsa-miR-92a	CLIP-seq
MIRT2395713	hsa-miR-92b	CLIP-seq
MIRT1421161	hsa-miR-943	CLIP-seq
MIRT2440954	hsa-miR-155	CLIP-seq
MIRT2440955	hsa-miR-3166	CLIP-seq
MIRT2440956	hsa-miR-4771	CLIP-seq
MIRT2440957	hsa-miR-499a-5p	CLIP-seq
MIRT2440954	hsa-miR-155	CLIP-seq
MIRT2440955	hsa-miR-3166	CLIP-seq
MIRT2440956	hsa-miR-4771	CLIP-seq
MIRT2440957	hsa-miR-499a-5p	CLIP-seq
MIRT2461384	hsa-miR-3120-3p	CLIP-seq
MIRT1421151	hsa-miR-4436b-5p	CLIP-seq
MIRT2692972	hsa-miR-153	CLIP-seq
MIRT2692973	hsa-miR-302f	CLIP-seq
MIRT2692974	hsa-miR-3064-3p	CLIP-seq
MIRT2692975	hsa-miR-3127-3p	CLIP-seq
MIRT2692976	hsa-miR-3667-3p	CLIP-seq
MIRT2692977	hsa-miR-412	CLIP-seq
MIRT2692978	hsa-miR-448	CLIP-seq
MIRT2692979	hsa-miR-4661-5p	CLIP-seq
MIRT2692980	hsa-miR-4699-3p	CLIP-seq
MIRT2692981	hsa-miR-4715-3p	CLIP-seq
MIRT2692982	hsa-miR-502-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF1	Activation	11776974
ATF2	Repression	1400310
USF1	Activation	11776974
USF2	Activation	11776974
USF2	Unknown	8943301

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IDA	15896309
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	ISS
GO:0001502	Process	Cartilage condensation	IEA
GO:0001540	Function	Amyloid-beta binding	IDA	16227582
GO:0001568	Process	Blood vessel development	IEA
GO:0001654	Process	Eye development	IDA	15944186
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	IMP	12411310
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	10092230, 18223299
GO:0001837	Process	Epithelial to mesenchymal transition	TAS	14679171
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0001942	Process	Hair follicle development	IDA	10433821
GO:0001942	Process	Hair follicle development	IEA
GO:0001942	Process	Hair follicle development	ISS
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003007	Process	Heart morphogenesis	IDA	10092230
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003179	Process	Heart valve morphogenesis	IEA
GO:0003179	Process	Heart valve morphogenesis	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003274	Process	Endocardial cushion fusion	IEA
GO:0003274	Process	Endocardial cushion fusion	ISS
GO:0003289	Process	Atrial septum primum morphogenesis	IEA
GO:0003289	Process	Atrial septum primum morphogenesis	ISS
GO:0003407	Process	Neural retina development	IEA
GO:0003407	Process	Neural retina development	ISS
GO:0005102	Function	Signaling receptor binding	IMP	16227582
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IDA	11157754
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IEA
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IMP	8167376
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IPI	1333888, 7852346, 11157754
GO:0005125	Function	Cytokine activity	IBA
GO:0005160	Function	Transforming growth factor beta receptor binding	IDA	10092230, 16227582
GO:0005160	Function	Transforming growth factor beta receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	2022183, 2119582, 8617200, 10930463, 11157754, 16227582, 17827158, 19651619, 25241761, 32814053
GO:0005576	Component	Extracellular region	IDA	16227582
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	2119582
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	24263861
GO:0005615	Component	Extracellular space	IEA
GO:0005768	Component	Endosome	IEA
GO:0006924	Process	Activation-induced cell death of T cells	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	12015308, 18548003
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	11157754, 17192487, 18223299, 18358889
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007423	Process	Sensory organ development	IEA
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0007435	Process	Salivary gland morphogenesis	IEP	18080134
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IDA	15896309
GO:0007507	Process	Heart development	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15896309
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15944186
GO:0008347	Process	Glial cell migration	IDA	18431253
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	ISS
GO:0009611	Process	Response to wounding	IEP	16891397, 18040277
GO:0009792	Process	Embryo development ending in birth or egg hatching	IEA
GO:0009792	Process	Embryo development ending in birth or egg hatching	TAS	2119582
GO:0010002	Process	Cardioblast differentiation	IDA	15896309
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	25217442
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IDA	17960115
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	17999987, 18505915
GO:0010936	Process	Negative regulation of macrophage cytokine production	IDA	20875417
GO:0010936	Process	Negative regulation of macrophage cytokine production	IEA
GO:0014706	Process	Striated muscle tissue development	IEA
GO:0016477	Process	Cell migration	IDA	10092230
GO:0016525	Process	Negative regulation of angiogenesis	IDA	25217442, 28977001
GO:0023052	Process	Signaling	IDA	16227582
GO:0030097	Process	Hemopoiesis	IEA
GO:0030097	Process	Hemopoiesis	ISS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030199	Process	Collagen fibril organization	IDA	16891397
GO:0030307	Process	Positive regulation of cell growth	IDA	15896309
GO:0030308	Process	Negative regulation of cell growth	IDA	18358889
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030593	Process	Neutrophil chemotaxis	ISS
GO:0030855	Process	Epithelial cell differentiation	IDA	18358889
GO:0031012	Component	Extracellular matrix	IDA	18049952
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0032570	Process	Response to progesterone	IDA	18039789
GO:0032570	Process	Response to progesterone	IEA
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IDA	17192487
GO:0032909	Process	Regulation of transforming growth factor beta2 production	IMP	12411310
GO:0032956	Process	Regulation of actin cytoskeleton organization	IEA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IDA	17960115, 18223299
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IEA
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IMP	8167376
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IPI	7852346, 11157754
GO:0035910	Process	Ascending aorta morphogenesis	IEA
GO:0035910	Process	Ascending aorta morphogenesis	ISS
GO:0042060	Process	Wound healing	ISS
GO:0042127	Process	Regulation of cell population proliferation	IBA
GO:0042127	Process	Regulation of cell population proliferation	IDA	18223299
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042416	Process	Dopamine biosynthetic process	ISS
GO:0042476	Process	Odontogenesis	NAS	18078367
GO:0042704	Process	Uterine wall breakdown	TAS	18039789
GO:0042803	Function	Protein homodimerization activity	IDA	2119582
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IDA	16227582
GO:0045216	Process	Cell-cell junction organization	IDA	18505915
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045726	Process	Positive regulation of integrin biosynthetic process	IDA	17960115
GO:0045747	Process	Positive regulation of Notch signaling pathway	IDA	25217442
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045787	Process	Positive regulation of cell cycle	ISS
GO:0045823	Process	Positive regulation of heart contraction	IDA	15896309
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	ISS
GO:0048103	Process	Somatic stem cell division	IEA
GO:0048103	Process	Somatic stem cell division	ISS
GO:0048566	Process	Embryonic digestive tract development	IEP	20875417
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048666	Process	Neuron development	ISS
GO:0048699	Process	Generation of neurons	TAS	15944186
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IDA	17217916
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	16943770
GO:0050714	Process	Positive regulation of protein secretion	IDA	18505915
GO:0050714	Process	Positive regulation of protein secretion	IEA
GO:0050778	Process	Positive regulation of immune response	ISS
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0051794	Process	Regulation of timing of catagen	IDA	15955085
GO:0051795	Process	Positive regulation of timing of catagen	IDA	15955085
GO:0051891	Process	Positive regulation of cardioblast differentiation	IDA	15896309
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	18223299
GO:0060038	Process	Cardiac muscle cell proliferation	IDA	15896309
GO:0060065	Process	Uterus development	IEA
GO:0060065	Process	Uterus development	ISS
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IDA	10092230
GO:0060325	Process	Face morphogenesis	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	11157754, 17192487, 18358889
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060413	Process	Atrial septum morphogenesis	ISS
GO:0061037	Process	Negative regulation of cartilage development	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0062009	Process	Secondary palate development	IEA
GO:0062009	Process	Secondary palate development	ISS
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	IEA
GO:0070237	Process	Positive regulation of activation-induced cell death of T cells	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0090091	Process	Positive regulation of extracellular matrix disassembly	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IDA	17217916
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0141091	Process	Transforming growth factor beta receptor superfamily signaling pathway	IEA
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1902256	Process	Regulation of apoptotic process involved in outflow tract morphogenesis	IEA
GO:1902256	Process	Regulation of apoptotic process involved in outflow tract morphogenesis	ISS
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	25217442
GO:1903053	Process	Regulation of extracellular matrix organization	IEA
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IMP	16034134
GO:1903701	Process	Substantia propria of cornea development	IEA
GO:1903701	Process	Substantia propria of cornea development	ISS
GO:1904238	Process	Pericyte cell differentiation	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1904888	Process	Cranial skeletal system development	ISS
GO:1905006	Process	Negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:1905006	Process	Negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 190220
• HGNC: 11768
• e!Ensembl: ENSG00000092969

Protein

• UniProt ID: P61812
• Protein name: Transforming growth factor beta-2 proprotein (Cetermin) (Glioblastoma-derived T-cell suppressor factor) (G-TSF) [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-2 (TGF-beta-2)]
• Protein function: [Transforming growth factor beta-2 proprotein]: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively. {ECO:000
• PDB: 1TFG, 2TGI, 4KXZ, 5TX4, 5TY4, 6I9J, 6XM2, 7RCO, 8DC0, 8FXS, 8FXV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	20 → 284	TGF-beta propeptide	Family
  PF00019	TGF_beta	316 → 413	Transforming growth factor beta like domain	Domain

• Sequence:

  MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQILSKLKLTSPPEDYPEP
  EEVPPEVISIYNSTRDLLQEKASRRAAACERERSDEEYYAKEVYKIDMPPFFPSENAIPP
  TFYRPYFRIVRFDVSAMEKNASNLVKAEFRVFRLQNPKARVPEQRIELYQILKSKDLTSP
  TQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLHHKDRNLGFKISLHCPCCTFVPSNNYIIP
  NKSEELEARFAGIDGTSTYTSGDQKTIKSTRKKNSGKTPHLLLMLLPSYRLESQQTNRRK
  KRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDTQH
  SRVLSLYNTINPEASASPCCVSQDLEPLTILYYIGKTPKIEQLSNMIVKSCKCS

• Sequence length: 414

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
Aortic aneurysm, familial thoracic, TGFB2 related	Likely pathogenic; Pathogenic	rs869312903	RCV001824688	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect 1	Pathogenic	rs2102630084	RCV001731121	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome	Pathogenic	rs2102630133	RCV002278074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aortopathy	Likely pathogenic; Pathogenic	rs863223792, rs1660010402	RCV001174570 RCV001174870	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Pathogenic; Likely pathogenic	rs2102527595, rs2464548369, rs2464757983, rs2464548279, rs863223796, rs863223792, rs869025531, rs869312903, rs1467391590, rs2464889778, rs2464757569, rs2464877549, rs1057521150, rs1064796256, rs1553303213, rs1553303352, rs1553292123, rs1553303357, rs1553303745, rs1553292145, rs760759052	RCV002420866 RCV002323340 RCV002328698 RCV002438050 RCV001170227 RCV002372177 RCV002321824 RCV002372209 RCV003150748 RCV003172111 RCV003172115 RCV004018136 RCV001170228 RCV002313256 RCV002314891 RCV004678752 RCV002315234 RCV002315238 RCV002315242 RCV002458263 RCV005749701	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz syndrome	Pathogenic; Likely pathogenic	rs2102527516, rs730880221, rs869025533, rs869025531, rs869312903, rs1057521150	RCV004801106 RCV000157514 RCV000208163 RCV000208340 RCV004017492 RCV004701473	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz syndrome 4	Pathogenic; Likely pathogenic	rs2102527595, rs1656706610, rs2102594816, rs2102630058, rs863223796, rs2102628675, rs2102527910, rs2102527516, rs897070997, rs2102628609, rs2102594880, rs2464865768, rs730880221, rs2464757983, rs866504799, rs2464549208, rs764028978, rs2464865429, rs2464871402, rs1553292099, rs863223790, rs863223792, rs869025531, rs760759052, rs869312903, rs398122884, rs2464877162, rs2464865520, rs2464758031, rs2464878008, rs2464548803, rs2464549704, rs2464872489, rs766401610, rs2464550705, rs2464877339, rs2464548163, rs1057521150, rs1553292112, rs1064796256, rs1553303213, rs1553292145, rs1553303221, rs1553303203, rs387907278, rs398122885, rs1553303352, rs1553303161, rs1558264130, rs1571821003, rs1571904218, rs1659965467, rs1658870968, rs1658873227	RCV001824454 RCV001824455 RCV001824456 RCV001824452 RCV002573218 RCV001730108 RCV001898256 RCV002007198 RCV002037791 RCV001956424 RCV002047207 RCV002288449 RCV001824290 RCV005096578 RCV002471414 RCV002471415 RCV003061529 RCV002820427 RCV002898844 RCV002000043 RCV001824294 RCV001824297 RCV000210465 RCV001824300 RCV000210467 RCV000210476 RCV000210478 RCV001824303 RCV003533963 RCV003531468 RCV003531801 RCV003531806 RCV003531778 RCV003532441 RCV003647691 RCV003648466 RCV003648453 RCV003648891 RCV003649154 RCV000660312 RCV001824317 RCV001851246 RCV001824325 RCV001853701 RCV006252455 RCV001824337 RCV000030732 RCV000030735 RCV000585795 RCV001824354 RCV001824364 RCV001824366 RCV001824386 RCV001824373 RCV001824401 RCV001824426 RCV001824420 RCV001824432	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marfan syndrome	Likely pathogenic	rs1659897581	RCV001256943	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TGFB2-related disorder	Likely pathogenic; Pathogenic	rs863223792, rs1553303352	RCV003390936 RCV004730985	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic aneurysm	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AORTIC ANEURYSM, THORACIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE INSUFFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY OF RESPIRATORY SYSTEM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULOSKELETAL ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYANOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holt-Oram syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated thoracic aortic aneurysm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC AORTIC REGURGITATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROGENITAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	2590216		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10836999, 15099960, 8253361		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	24380766	Stimulate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22582395		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	25875044		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29949176		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	8450031		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	15837588		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29891662		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	25313366	Stimulate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	25163805, 34185228	Associate	★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	30662842, 31725165		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26279302, 31464648		★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	30719689		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	23099432, 24193348, 40139558, 40243722	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic Aneurysm	Aortic Aneurysm	BEFREE	24193348, 24440784, 24707114		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	24193348, 24707114, 26854089	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31142802		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	CTD_human_DG	22772368, 22772371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	25046559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Thoracoabdominal	Aortic Aneurysm	CTD_human_DG	22772368, 22772371		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	24193348, 25046559, 27782106		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	27782106	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	22772371, 27782106, 35078481, 35307021, 40139558, 40243722	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	CTD_human_DG	21216836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	24193348		★☆☆☆☆ Found in Text Mining only
Arterial Tortuosity Syndrome	Arterial tortuosity syndrome	Pubtator	24193348	Associate	★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30425199		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30377863		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17594488	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	15466377, 17251317, 18348727, 35774789	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17651146, 18410963, 22227417, 28649804		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	17651146, 18348727		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	21685242	Stimulate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	28900109		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30425199		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37200403	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31147808		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	23231720	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	25055964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28945200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	26915797		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23098454, 29949176		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	1689483, 7522082, 8973690		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	28659821		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	15137003		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30468562		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28261684, 9192977		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	29286127	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	20362080	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	35205249	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	9217007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Neoplasms	Bone neoplasm	Pubtator	23199169	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30468562	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	22582395	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16885354, 1834933, 22621393, 24036662, 25542862, 30443182, 8669837		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18563556, 21527583, 22436421, 23098454, 25120797, 26703884, 28915803, 34993493, 36650834, 36696357, 38531630, 40012020	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30579251	Stimulate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35808901	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12011061	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15133472		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12402381, 33115518, 34443536, 35165519	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19219652, 28261684, 9192977		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	18598833		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28911087		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	28623900	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	9649178	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39273323, 39457004	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25813153	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30232004	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	20858897, 8763422, 9178800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	9649178		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	21127203	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	40243722	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10351968		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20665672	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10440257, 10502054, 22128246, 22406872, 22464821, 27026447, 30290164		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	22128246, 24157878, 35379202, 36289352	Stimulate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	29588342, 8664236	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	10476695		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	27440102		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22582395		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	12917766		★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	CTD_human_DG	25055964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	BEFREE	12021923		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	12021923		★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	31180551		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	9067916		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	24621683		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	8697616		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31584460	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10416598, 1886718, 30639613, 7743502		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29891662, 31186036, 31244652, 31278965		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16886611, 27880067, 29891662, 29986714, 31186036, 33181667, 35186110	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35537198	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	10235000		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	15137003		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	22128246		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31533404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	25563880, 27926976, 29932217		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	23712828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	9217007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	23712828		★☆☆☆☆ Found in Text Mining only
Congenital musculoskeletal anomalies	Congenital Musculoskeletal Anomalies	CTD_human_DG	9217007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	29593116		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29288409		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	27440102, 29760442		★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	23712828, 27564654		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25813153, 28599476, 29391598		★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	BEFREE	29760442		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	29760442		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Posterior Polymorphous 1	Posterior polymorphous corneal dystrophy	Pubtator	28414732	Associate	★☆☆☆☆ Found in Text Mining only
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	28414732		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	21127203	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21889313	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	33125268	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	27505182		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11742810, 12651627, 27553420, 31840323		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	11742810, 12651627	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	9923802	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16400016, 19997821, 31597574		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27911312		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	2299195		★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26853893		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26853893		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35379202	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	23494449	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23337395		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic Foot	LHGDN	12060054		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	9067916		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	9825196	Associate	★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	25046559, 27782106		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	28636109		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	23220729		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	27247515	Associate	★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	BEFREE	31180551		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia lentis	Pubtator	31180551	Stimulate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28538696, 29911097, 31058363		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	28538696	Stimulate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	31343404	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17150964, 21261473		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	23053311, 28030938, 30367890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	28030938	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enteritis	Enteritis	BEFREE	31831090		★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	26225425	Associate	★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	29850215		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	8450031		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	29795291		★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	21738403	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25644172	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	22772368, 22772371, 24193348		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	ORPHANET_DG	22772371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	29202780	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	23297089		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	15137003, 24263861, 26120970, 30130153		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	31858815	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	36966336	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	23124437		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	1756472	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	28903395		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	10396201, 17591888, 22876128, 26191170, 26396484, 29752408, 32410836, 32579557, 33746571, 33795740, 34140021, 35689009, 36766846	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	17325163, 19031438, 21722634, 23010638, 26191170, 26396484, 28081465, 29190672, 29535003, 30905679, 31382918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	CTD_human_DG	20375339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	21722634, 24718314	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19450457, 21917933, 23513064, 25197353, 28400560, 29752408	Stimulate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	23940598, 24030464, 24718314, 28159972, 32410836, 33821883, 34440692, 34588570, 34870675, 36011411, 37316554	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	34140021	Inhibit	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	29190672		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	15500824, 16936095, 21348595, 22542845, 22736943, 24003087, 26743044, 28159972, 28241317, 28400560, 29190672, 29752408, 31589839, 31725165		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	1315829, 1373442, 16826191, 1874566, 1894732, 21511480, 22786655, 25084773, 25849941, 27163626, 2809198, 30190576, 31297044		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	1830205, 20493562, 24223867, 25849941, 25891822, 29642484, 3322813	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	1315829, 1894732, 20493562, 21511480, 22786655, 25084773, 25849941, 25891822, 27163626, 2809198, 29145888, 30190576, 31297044		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10679251, 11391621, 11716069, 17453002, 19033423, 24223867, 25064688, 27267902, 29145888, 7648444, 8575854		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	11716069, 17453002		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	12230496, 15584904, 17453002, 19033423, 20838435, 24223867, 27163626, 7477684, 7521890	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	23940728	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	8697616		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35035663	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35078481	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29288409		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	15133472	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	11334464		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	20858897		★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	15198877		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	12011061	Inhibit	★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	CLINVAR_DG	22772368, 22772371, 23102774, 25644172, 26854089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperostosis	Hyperostosis	BEFREE	27505182		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	16400016, 17683641	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25867965, 30425199, 35186110, 35628282	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25132780		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25132780	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	15980999	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	15980999	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	10235000	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	23775819, 28448997		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile macular degeneration and hypotrichosis	Macular degeneration	Pubtator	22971919	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	LHGDN	17679942		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	21310385		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	36811882	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	19657322		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	9067916	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	9067916		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	36771423	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	12641657	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	27911312		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	9217007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	11206222, 12378510, 26799667, 31591477		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	33682288	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	26301107	Stimulate	★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Aortic Aneurysm Syndrome	Loeys-Dietz Syndrome	CTD_human_DG	22772368		★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	BEFREE	22772368, 24193348, 24440784, 25163805, 25728306, 27440102, 27782106, 29350460, 29392890		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	CTD_human_DG	22772368		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	GENOMICS_ENGLAND_DG	23161884		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LOEYS-DIETZ SYNDROME 4	Loeys-Dietz Syndrome	GENOMICS_ENGLAND_DG	22772368, 22772371, 23161884, 29392890		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LOEYS-DIETZ SYNDROME 4	Loeys-Dietz Syndrome	UNIPROT_DG	22772368, 22772371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LOEYS-DIETZ SYNDROME 4	Loeys-Dietz Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz Syndrome, Type 1a	Loeys-Dietz Syndrome	CTD_human_DG	22772368		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24698130	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23125486	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10207165, 12064833		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34362313	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29795291	Inhibit	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32209064	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	1874566, 19895249, 21366804, 27163626		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	25756049		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16885354, 1834933, 22621393, 24036662, 30443182, 8669837		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21261473		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	18598833		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26799667		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28911087		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21366804, 29785126		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	1373503, 21207416, 24651255, 26090669, 29514796, 7522082, 8274428		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12353499, 26983401, 28115163, 30737902		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28261684, 9192977		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15326482, 1651380, 18598833, 1997889, 20629536, 21366804, 30190576		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10416598, 1886718, 30639613		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10375614		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18043895		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral dysplasia	Pubtator	21419220	Associate	★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	12154046		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	22772368, 22772371, 24193348, 29350460		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfan Syndrome	Marfan syndrome	Pubtator	22772371, 24193348, 25644172	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfan Syndrome	Marfan syndrome	Pubtator	40243722	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	BEFREE	22582395		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22582395, 8200640	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12230496, 17565341, 25743834, 34773645, 8030760, 8669474	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15695386, 7614683		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	10547606		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29051557		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	33418956	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	22823397		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	24440784		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21917933	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitral valve dysplasia	Mitral Valve Dysplasia	BEFREE	25814644		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	26846766	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	22011813, 26833052		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17431704		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	26768647	Inhibit	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	29693488		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	29693488		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	9825196		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	19710942, 29760442		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19710942, 36289352	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	18059253, 25725991		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	10929762	Inhibit	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	23154975		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	23154975, 23558011		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10416598, 11206222, 12021923, 12399126, 1373442, 15133472, 16826191, 18598833, 1894732, 19287371, 21088899, 21208907, 24788885, 25967456, 25976290, 26211534, 27163626, 2809198, 28178658, 28261684, 28911087, 29145888, 29716922, 29891662, 30680959, 30737902, 31273954, 31591477, 3322813, 7611274, 8253361, 8380955, 8450031, 8500096, 8698303, 9649178		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	Pubtator	9067916	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	32579557	Stimulate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21738403	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22582395		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22582395	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	21738403		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12399126, 19287371, 27852038		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28688350		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	22736943, 22876128, 28346614, 29743238, 29801150, 31091314		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular hypertension	Pubtator	22876128	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	35205249	Associate	★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	8450031		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17594488	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35205249	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	16540432, 21421073, 25793604, 31784675		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	16540432, 25793604	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18505915	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29512773, 32351985, 36550569, 38186569	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10938282, 21366804, 29785126		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	26279302		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	10938282, 18157915, 31213574, 32867538	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23651239	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	16519564	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Acute Necrotizing	Pancreatitis	Pubtator	9445116	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17431704, 27911312		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	8697616		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	32926429	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	12217325		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	27531356		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	9250163	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	22504005		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	20630504, 22406872, 24911914, 25063219, 26853893, 30280182, 30304871, 31049834, 31158382, 31815277, 8654631		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	20630504	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35427808	Associate	★☆☆☆☆ Found in Text Mining only
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy	BEFREE	28414732		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27911312		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	30662842, 31725165		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	27531356		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	12506096, 22499528, 24022401, 28913545, 30347087, 31439892, 31608440		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	1373503, 21207416, 24651255, 26090669, 29514796, 7522082, 8274428		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	24297183		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15118089, 24615813, 24651255, 31605802	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15389580		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28688350		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25006744, 34166600	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	GENOMICS_ENGLAND_DG	23161884		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16778279		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25813153, 28599476		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	27391349		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	29850215, 31086578		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	35628282	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29514796		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	30347087, 31086578		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17594488		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	16778279, 21148227		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21148227	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30468562		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30468562	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	10700426, 1697606	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	27911312		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	19710942, 28900109		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	7495347	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	35886018	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	20606027	Stimulate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12399126		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	8388229	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15099960, 20720562, 30232004		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25946135, 34362313	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30622052		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12353499, 26983401, 28115163, 30737902		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28444881, 30737902, 32388013, 32530106	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33115518	Stimulate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	1697606, 27510999, 31217334		★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	22772371, 24193348, 26846766	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	24402195		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	8500096		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28692037		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25132780		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28261684, 29966014, 33200222	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	9192977	Inhibit	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	CTD_human_DG	9217007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	8439507		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	8088612	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	18300240	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	27873479, 30719689		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van der woude syndrome	Pubtator	7825592	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	8454288		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	35808901	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34716148	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	17251317	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	29286127	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	18253093, 28138219, 33047885, 34523693, 36672142	Associate	★☆☆☆☆ Found in Text Mining only
Vohwinkel Syndrome Variant Form	Vohwinkel syndrome	Pubtator	34773645	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	23042785	Associate	★☆☆☆☆ Found in Text Mining only