TBX3 (T-box transcription factor 3)

Gene

• Entrez ID: 6926
• Gene name: T-box transcription factor 3
• Gene symbol: TBX3
• Synonyms (NCBI Gene): TBX3-ISO, UMS, XHL
• Chromosome: 12
• Chromosome location: 12q24.21
• Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894376	T>A	Pathogenic	Coding sequence variant, stop gained
rs369999628	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370307666	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397514484	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060505020	G>A	Pathogenic	Stop gained, coding sequence variant
rs1565858163	->GC	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022052	hsa-miR-128-3p	Microarray	17612493
MIRT030639	hsa-miR-22-3p	Sequencing	20371350
MIRT036446	hsa-miR-1226-3p	CLASH	23622248
MIRT438287	hsa-miR-137	Luciferase reporter assay	24084696
MIRT438287	hsa-miR-137	Luciferase reporter assay	24084696
MIRT438287	hsa-miR-137	Luciferase reporter assay	24084696
MIRT438287	hsa-miR-137	Luciferase reporter assay	24084696
MIRT1415237	hsa-miR-106a	CLIP-seq
MIRT1415238	hsa-miR-106b	CLIP-seq
MIRT1415239	hsa-miR-1179	CLIP-seq
MIRT1415240	hsa-miR-1279	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT1415242	hsa-miR-17	CLIP-seq
MIRT1415243	hsa-miR-1908	CLIP-seq
MIRT1415244	hsa-miR-20a	CLIP-seq
MIRT1415245	hsa-miR-20b	CLIP-seq
MIRT1415246	hsa-miR-299-5p	CLIP-seq
MIRT1415247	hsa-miR-3153	CLIP-seq
MIRT1415248	hsa-miR-3177-3p	CLIP-seq
MIRT1415249	hsa-miR-3545-3p	CLIP-seq
MIRT1415250	hsa-miR-3616-3p	CLIP-seq
MIRT1415251	hsa-miR-3654	CLIP-seq
MIRT1415252	hsa-miR-3660	CLIP-seq
MIRT1415253	hsa-miR-378	CLIP-seq
MIRT1415254	hsa-miR-378b	CLIP-seq
MIRT1415255	hsa-miR-378c	CLIP-seq
MIRT1415256	hsa-miR-378d	CLIP-seq
MIRT1415257	hsa-miR-378e	CLIP-seq
MIRT1415258	hsa-miR-378f	CLIP-seq
MIRT1415259	hsa-miR-378h	CLIP-seq
MIRT1415260	hsa-miR-378i	CLIP-seq
MIRT1415261	hsa-miR-422a	CLIP-seq
MIRT1415262	hsa-miR-4278	CLIP-seq
MIRT1415263	hsa-miR-4282	CLIP-seq
MIRT1415264	hsa-miR-4293	CLIP-seq
MIRT1415265	hsa-miR-4526	CLIP-seq
MIRT1415266	hsa-miR-4539	CLIP-seq
MIRT1415267	hsa-miR-4645-3p	CLIP-seq
MIRT1415268	hsa-miR-4668-5p	CLIP-seq
MIRT1415269	hsa-miR-4684-3p	CLIP-seq
MIRT1415270	hsa-miR-4699-3p	CLIP-seq
MIRT1415271	hsa-miR-4716-3p	CLIP-seq
MIRT1415272	hsa-miR-4721	CLIP-seq
MIRT1415273	hsa-miR-4775	CLIP-seq
MIRT1415274	hsa-miR-519a	CLIP-seq
MIRT1415275	hsa-miR-519b-3p	CLIP-seq
MIRT1415276	hsa-miR-519c-3p	CLIP-seq
MIRT1415277	hsa-miR-519d	CLIP-seq
MIRT1415278	hsa-miR-520g	CLIP-seq
MIRT1415279	hsa-miR-520h	CLIP-seq
MIRT1415280	hsa-miR-548c-3p	CLIP-seq
MIRT1415281	hsa-miR-561	CLIP-seq
MIRT1415282	hsa-miR-590-3p	CLIP-seq
MIRT1415283	hsa-miR-663	CLIP-seq
MIRT1415284	hsa-miR-93	CLIP-seq
MIRT2124618	hsa-miR-3065-3p	CLIP-seq
MIRT2124619	hsa-miR-3622a-3p	CLIP-seq
MIRT2124620	hsa-miR-3622b-3p	CLIP-seq
MIRT2124621	hsa-miR-4311	CLIP-seq
MIRT2124622	hsa-miR-4436b-5p	CLIP-seq
MIRT2124623	hsa-miR-4511	CLIP-seq
MIRT2124624	hsa-miR-320a	CLIP-seq
MIRT2124625	hsa-miR-320b	CLIP-seq
MIRT2124626	hsa-miR-320c	CLIP-seq
MIRT2124627	hsa-miR-320d	CLIP-seq
MIRT2124628	hsa-miR-4429	CLIP-seq
MIRT2346820	hsa-miR-1	CLIP-seq
MIRT1415237	hsa-miR-106a	CLIP-seq
MIRT1415238	hsa-miR-106b	CLIP-seq
MIRT1415239	hsa-miR-1179	CLIP-seq
MIRT2346821	hsa-miR-1193	CLIP-seq
MIRT2346822	hsa-miR-1225-3p	CLIP-seq
MIRT2346823	hsa-miR-1231	CLIP-seq
MIRT2346824	hsa-miR-1233	CLIP-seq
MIRT2346825	hsa-miR-1257	CLIP-seq
MIRT2346826	hsa-miR-1269	CLIP-seq
MIRT2346827	hsa-miR-1269b	CLIP-seq
MIRT1415240	hsa-miR-1279	CLIP-seq
MIRT2346828	hsa-miR-1286	CLIP-seq
MIRT2346829	hsa-miR-1288	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT2346830	hsa-miR-1323	CLIP-seq
MIRT2346831	hsa-miR-142-5p	CLIP-seq
MIRT2346832	hsa-miR-1470	CLIP-seq
MIRT1415242	hsa-miR-17	CLIP-seq
MIRT2346833	hsa-miR-187	CLIP-seq
MIRT1415243	hsa-miR-1908	CLIP-seq
MIRT2346834	hsa-miR-1913	CLIP-seq
MIRT2346835	hsa-miR-2052	CLIP-seq
MIRT1415244	hsa-miR-20a	CLIP-seq
MIRT1415245	hsa-miR-20b	CLIP-seq
MIRT2346836	hsa-miR-2114	CLIP-seq
MIRT2346837	hsa-miR-216a	CLIP-seq
MIRT2346838	hsa-miR-2392	CLIP-seq
MIRT2346839	hsa-miR-2682	CLIP-seq
MIRT1415246	hsa-miR-299-5p	CLIP-seq
MIRT2124618	hsa-miR-3065-3p	CLIP-seq
MIRT2346840	hsa-miR-3120-3p	CLIP-seq
MIRT2346841	hsa-miR-3130-3p	CLIP-seq
MIRT1415248	hsa-miR-3177-3p	CLIP-seq
MIRT2346842	hsa-miR-3192	CLIP-seq
MIRT2124624	hsa-miR-320a	CLIP-seq
MIRT2124625	hsa-miR-320b	CLIP-seq
MIRT2124626	hsa-miR-320c	CLIP-seq
MIRT2124627	hsa-miR-320d	CLIP-seq
MIRT2346843	hsa-miR-324-3p	CLIP-seq
MIRT2346844	hsa-miR-340	CLIP-seq
MIRT1415249	hsa-miR-3545-3p	CLIP-seq
MIRT2346845	hsa-miR-361-3p	CLIP-seq
MIRT2124619	hsa-miR-3622a-3p	CLIP-seq
MIRT2124620	hsa-miR-3622b-3p	CLIP-seq
MIRT1415251	hsa-miR-3654	CLIP-seq
MIRT1415252	hsa-miR-3660	CLIP-seq
MIRT2346846	hsa-miR-3667-3p	CLIP-seq
MIRT2346847	hsa-miR-3673	CLIP-seq
MIRT2346848	hsa-miR-3675-3p	CLIP-seq
MIRT2346849	hsa-miR-3692	CLIP-seq
MIRT1415253	hsa-miR-378	CLIP-seq
MIRT1415254	hsa-miR-378b	CLIP-seq
MIRT1415255	hsa-miR-378c	CLIP-seq
MIRT1415256	hsa-miR-378d	CLIP-seq
MIRT1415257	hsa-miR-378e	CLIP-seq
MIRT1415258	hsa-miR-378f	CLIP-seq
MIRT1415259	hsa-miR-378h	CLIP-seq
MIRT1415260	hsa-miR-378i	CLIP-seq
MIRT2346850	hsa-miR-3941	CLIP-seq
MIRT2346851	hsa-miR-3943	CLIP-seq
MIRT2346852	hsa-miR-409-3p	CLIP-seq
MIRT1415261	hsa-miR-422a	CLIP-seq
MIRT2346853	hsa-miR-4264	CLIP-seq
MIRT2346854	hsa-miR-4269	CLIP-seq
MIRT2346855	hsa-miR-4286	CLIP-seq
MIRT2346856	hsa-miR-4290	CLIP-seq
MIRT1415264	hsa-miR-4293	CLIP-seq
MIRT2346857	hsa-miR-4303	CLIP-seq
MIRT2346858	hsa-miR-4314	CLIP-seq
MIRT2124628	hsa-miR-4429	CLIP-seq
MIRT2124622	hsa-miR-4436b-5p	CLIP-seq
MIRT2346859	hsa-miR-4457	CLIP-seq
MIRT2346860	hsa-miR-4469	CLIP-seq
MIRT2346861	hsa-miR-449c	CLIP-seq
MIRT2346862	hsa-miR-4515	CLIP-seq
MIRT1415265	hsa-miR-4526	CLIP-seq
MIRT1415266	hsa-miR-4539	CLIP-seq
MIRT1415267	hsa-miR-4645-3p	CLIP-seq
MIRT2346863	hsa-miR-4646-5p	CLIP-seq
MIRT2346864	hsa-miR-466	CLIP-seq
MIRT2346865	hsa-miR-4667-3p	CLIP-seq
MIRT2346866	hsa-miR-4672	CLIP-seq
MIRT1415269	hsa-miR-4684-3p	CLIP-seq
MIRT2346867	hsa-miR-4696	CLIP-seq
MIRT1415270	hsa-miR-4699-3p	CLIP-seq
MIRT2346868	hsa-miR-4722-5p	CLIP-seq
MIRT2346869	hsa-miR-4740-5p	CLIP-seq
MIRT2346870	hsa-miR-4760-3p	CLIP-seq
MIRT2346871	hsa-miR-4762-3p	CLIP-seq
MIRT2346872	hsa-miR-4766-5p	CLIP-seq
MIRT1415273	hsa-miR-4775	CLIP-seq
MIRT2346873	hsa-miR-4781-3p	CLIP-seq
MIRT2346874	hsa-miR-4793-3p	CLIP-seq
MIRT2346875	hsa-miR-4797-3p	CLIP-seq
MIRT2346876	hsa-miR-483-3p	CLIP-seq
MIRT2346877	hsa-miR-499-3p	CLIP-seq
MIRT2346878	hsa-miR-499a-3p	CLIP-seq
MIRT2346879	hsa-miR-513b	CLIP-seq
MIRT1415274	hsa-miR-519a	CLIP-seq
MIRT1415275	hsa-miR-519b-3p	CLIP-seq
MIRT1415276	hsa-miR-519c-3p	CLIP-seq
MIRT1415277	hsa-miR-519d	CLIP-seq
MIRT1415278	hsa-miR-520g	CLIP-seq
MIRT1415279	hsa-miR-520h	CLIP-seq
MIRT2346880	hsa-miR-548o	CLIP-seq
MIRT1415281	hsa-miR-561	CLIP-seq
MIRT2346881	hsa-miR-570	CLIP-seq
MIRT2346882	hsa-miR-579	CLIP-seq
MIRT1415282	hsa-miR-590-3p	CLIP-seq
MIRT2346883	hsa-miR-595	CLIP-seq
MIRT2346884	hsa-miR-613	CLIP-seq
MIRT2346885	hsa-miR-617	CLIP-seq
MIRT2346886	hsa-miR-640	CLIP-seq
MIRT2346887	hsa-miR-642a	CLIP-seq
MIRT1415283	hsa-miR-663	CLIP-seq
MIRT2346888	hsa-miR-664	CLIP-seq
MIRT2346889	hsa-miR-760	CLIP-seq
MIRT2346890	hsa-miR-767-3p	CLIP-seq
MIRT2346891	hsa-miR-769-5p	CLIP-seq
MIRT1415284	hsa-miR-93	CLIP-seq
MIRT2346892	hsa-miR-935	CLIP-seq
MIRT2346893	hsa-miR-940	CLIP-seq
MIRT2346832	hsa-miR-1470	CLIP-seq
MIRT2346865	hsa-miR-4667-3p	CLIP-seq
MIRT1415239	hsa-miR-1179	CLIP-seq
MIRT1415240	hsa-miR-1279	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT2346840	hsa-miR-3120-3p	CLIP-seq
MIRT2433783	hsa-miR-3671	CLIP-seq
MIRT2346850	hsa-miR-3941	CLIP-seq
MIRT2433784	hsa-miR-4255	CLIP-seq
MIRT2346859	hsa-miR-4457	CLIP-seq
MIRT2433785	hsa-miR-4474-5p	CLIP-seq
MIRT2346864	hsa-miR-466	CLIP-seq
MIRT2346866	hsa-miR-4672	CLIP-seq
MIRT2433786	hsa-miR-4677-3p	CLIP-seq
MIRT2433787	hsa-miR-4679	CLIP-seq
MIRT1415270	hsa-miR-4699-3p	CLIP-seq
MIRT2346872	hsa-miR-4766-5p	CLIP-seq
MIRT2433788	hsa-miR-4768-5p	CLIP-seq
MIRT1415273	hsa-miR-4775	CLIP-seq
MIRT2433789	hsa-miR-4778-5p	CLIP-seq
MIRT2433790	hsa-miR-4795-3p	CLIP-seq
MIRT2346877	hsa-miR-499-3p	CLIP-seq
MIRT2346878	hsa-miR-499a-3p	CLIP-seq
MIRT2346879	hsa-miR-513b	CLIP-seq
MIRT1415281	hsa-miR-561	CLIP-seq
MIRT2346881	hsa-miR-570	CLIP-seq
MIRT1415282	hsa-miR-590-3p	CLIP-seq
MIRT2346883	hsa-miR-595	CLIP-seq
MIRT2433791	hsa-miR-633	CLIP-seq
MIRT2346889	hsa-miR-760	CLIP-seq
MIRT2442744	hsa-miR-203	CLIP-seq
MIRT2442745	hsa-miR-4276	CLIP-seq
MIRT1415263	hsa-miR-4282	CLIP-seq
MIRT2442746	hsa-miR-513a-3p	CLIP-seq
MIRT1415280	hsa-miR-548c-3p	CLIP-seq
MIRT2639543	hsa-miR-1224-5p	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT2639544	hsa-miR-199a-3p	CLIP-seq
MIRT2639545	hsa-miR-199b-3p	CLIP-seq
MIRT2346835	hsa-miR-2052	CLIP-seq
MIRT2639546	hsa-miR-3129-5p	CLIP-seq
MIRT2639547	hsa-miR-3915	CLIP-seq
MIRT2639548	hsa-miR-3919	CLIP-seq
MIRT2639549	hsa-miR-3928	CLIP-seq
MIRT2124622	hsa-miR-4436b-5p	CLIP-seq
MIRT2639550	hsa-miR-4689	CLIP-seq
MIRT2639551	hsa-miR-4709-5p	CLIP-seq
MIRT2639552	hsa-miR-4756-3p	CLIP-seq
MIRT2639553	hsa-miR-495	CLIP-seq
MIRT2639554	hsa-miR-548p	CLIP-seq
MIRT2639555	hsa-miR-549	CLIP-seq
MIRT2639543	hsa-miR-1224-5p	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT2639544	hsa-miR-199a-3p	CLIP-seq
MIRT2639545	hsa-miR-199b-3p	CLIP-seq
MIRT2346835	hsa-miR-2052	CLIP-seq
MIRT2639546	hsa-miR-3129-5p	CLIP-seq
MIRT2639547	hsa-miR-3915	CLIP-seq
MIRT2639548	hsa-miR-3919	CLIP-seq
MIRT2639549	hsa-miR-3928	CLIP-seq
MIRT2346850	hsa-miR-3941	CLIP-seq
MIRT2124622	hsa-miR-4436b-5p	CLIP-seq
MIRT1415267	hsa-miR-4645-3p	CLIP-seq
MIRT2346864	hsa-miR-466	CLIP-seq
MIRT2346866	hsa-miR-4672	CLIP-seq
MIRT1415269	hsa-miR-4684-3p	CLIP-seq
MIRT2639550	hsa-miR-4689	CLIP-seq
MIRT1415270	hsa-miR-4699-3p	CLIP-seq
MIRT2639551	hsa-miR-4709-5p	CLIP-seq
MIRT2639552	hsa-miR-4756-3p	CLIP-seq
MIRT2639554	hsa-miR-548p	CLIP-seq
MIRT2639555	hsa-miR-549	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SIRT1	Repression	20631301

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11689487
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	12000749, 22130515
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	11689487, 12000749, 22130515
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11689487, 22130515
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	22130515
GO:0001501	Process	Skeletal system development	IMP	9207801
GO:0001568	Process	Blood vessel development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001708	Process	Cell fate specification	IBA
GO:0001947	Process	Heart looping	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003167	Process	Atrioventricular bundle cell differentiation	IEA
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	IMP	22130515
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	22002537, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11689487
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005929	Component	Cilium	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9207801
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	12032820
GO:0008595	Process	Anterior/posterior axis specification, embryo	IMP	9207801
GO:0009887	Process	Animal organ morphogenesis	IDA	9207801
GO:0010159	Process	Specification of animal organ position	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0021761	Process	Limbic system development	IEA
GO:0030539	Process	Male genitalia development	IMP	12116211
GO:0030540	Process	Female genitalia development	IMP	12116211
GO:0030857	Process	Negative regulation of epithelial cell differentiation	IEA
GO:0030879	Process	Mammary gland development	IEA
GO:0030879	Process	Mammary gland development	IMP	12116211
GO:0031647	Process	Regulation of protein stability	IEA
GO:0032275	Process	Luteinizing hormone secretion	IMP	12116211
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IMP	12116211
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	IDA	9207801
GO:0036302	Process	Atrioventricular canal development	IEA
GO:0036302	Process	Atrioventricular canal development	ISS	22130515
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	9207801, 12116211
GO:0043066	Process	Negative regulation of apoptotic process	IDA	12032820
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	11689487
GO:0045662	Process	Negative regulation of myoblast differentiation	IDA	12032820
GO:0045787	Process	Positive regulation of cell cycle	IDA	12032820
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10468588, 11689487
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	22130515
GO:0046884	Process	Follicle-stimulating hormone secretion	IMP	12116211
GO:0048332	Process	Mesoderm morphogenesis	IMP	9207801
GO:0048752	Process	Semicircular canal morphogenesis	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IMP	22130515
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0060596	Process	Mammary placode formation	IEA
GO:0060923	Process	Cardiac muscle cell fate commitment	IEA
GO:0060931	Process	Sinoatrial node cell development	IDA	22130515
GO:0060931	Process	Sinoatrial node cell development	IEA
GO:0061017	Process	Hepatoblast differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0061635	Process	Regulation of protein complex stability	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072105	Process	Ureteric peristalsis	IEA
GO:0090398	Process	Cellular senescence	IDA	11748239, 22002537
GO:0090398	Process	Cellular senescence	IEA
GO:1905072	Process	Cardiac jelly development	IEA
GO:1905072	Process	Cardiac jelly development	IMP	22130515
GO:1905222	Process	Atrioventricular canal morphogenesis	IEA
GO:1905222	Process	Atrioventricular canal morphogenesis	ISS	22130515
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000137	Process	Negative regulation of cell proliferation involved in heart morphogenesis	IMP	22130515
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2000737	Process	Negative regulation of stem cell differentiation	IEA

Other IDs

• MIM: 601621
• HGNC: 11602
• e!Ensembl: ENSG00000135111

Protein

• UniProt ID: O15119
• Protein name: T-box transcription factor TBX3 (T-box protein 3)
• Protein function: Transcriptional repressor involved in developmental processes (PubMed:10468588). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:12000749)
• PDB: 1H6F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	105 → 305	T-box	Domain
  PF12598	TBX	323 → 407	T-box transcription factor	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed.
• Sequence:

  MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGAL
  AKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVEDDPKVHLEAKELWDQFHKRG
  TEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEM
  PKRMYIHPDSPATGEQWMSKVVTFHKLKLTNNISDKHGFTLAFPSDHATWQGNYSFGTQT
  ILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFA
  KGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTV
  GTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAE
  RPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFA
  PLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQFAMGGAFSSMAAAGMG
  PLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSL
  FPYPYTYMAAAAAASSAAASSSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTAL
  PSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSE
  LQSIQRLVSGLEAKPDRSRSASP

• Sequence length: 743

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

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
TBX3-related disorder	Pathogenic	rs1457604010	RCV003392985	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ulnar-mammary syndrome	Pathogenic; Likely pathogenic	rs1237767989, rs2121158390, rs2499786519, rs2499790237, rs2499793907, rs1592851924, rs1592851007, rs104894376, rs1592852070, rs2499787857, rs2499787378, rs779733514, rs2499797082, rs2121153865, rs2499783504, rs2499790308, rs2499799012, rs1060505020, rs397514484, rs1565858163, rs1868706209	RCV001382740 RCV001823052 RCV002285003 RCV002289028 RCV003052517 RCV000008451 RCV000008452 RCV000008453 RCV000008454 RCV003153217 RCV003154617 RCV003228724 RCV003510733 RCV003984944 RCV003988725 RCV003990307 RCV004018037 RCV000477734 RCV000024600 RCV000722180 RCV001052892	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	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
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eccrine porocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPROSTHETIC OSTEOLYSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	29531354		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	23266556		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30630509		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	36260562	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27203213	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	33155827	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	22203979		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	GWASCAT_DG	30410027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25394776		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15289316, 18245468, 20942798, 22535523, 23624936, 25552398, 26920143, 27100732, 27553211, 27632063, 27925203, 28215225, 28238063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21098263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21098263, 22722201, 26451490, 26920143, 27100732, 27553211, 27632063, 27925203, 30697731, 33763657, 38003265	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	28579578		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24317053, 29295731, 30578408, 35610614	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26249178, 27553211, 30697731	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	26451490, 31018945	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25394776		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	23116943		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	BEFREE	31202624		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	23266556		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	23266556		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20702496, 38499482	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	23266556		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	23266556		★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	19938096		★☆☆☆☆ Found in Text Mining only
Congenital absence of breast	Breast aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	16530712		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	BEFREE	24664963		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	30223900	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	30223900		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23116943, 26283027, 31704448		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	11748239, 12000749		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32627000	Stimulate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	18726671		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	27922631		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	28579578, 31202624		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	32606567	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21156036	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	25158279		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	12116211		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26283027, 35697867	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36656640	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24386373	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	17283120		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Hernia of abdominal wall	Hernia Of Abdominal Wall	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	34807923	Stimulate	★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	26749485		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19430479		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	12116211		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	39788453	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inguinal Hernia, Indirect	Inguinal Hernia	BEFREE	25455105		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16896345		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30209397		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	38174564	Associate	★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	21199695		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	25158279		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	15300007, 18245468		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	28052013, 34268937	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	16530712, 24664963, 30550377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	9207801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	17283120, 29295731, 30151243, 30578408		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17283120		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26635082	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15289316, 18245468, 20942798, 22535523, 23624936, 25552398, 26920143, 27100732, 27553211, 27632063, 28215225, 28238063, 30697731		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21098263		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	23266556		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17283120, 24317053, 30268432		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27632063		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29662167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27553355		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25394776		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19661783, 20942798, 22284968, 22334480, 23082988, 24025717, 27100732, 27553211, 27632063, 28579578, 30268432, 31669645		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	23266556		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21098263		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15289316, 16049973, 18245468		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21098263		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23624936, 27100732		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21098263		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15781639, 18829543, 22535523, 25595898, 28579578, 28757416, 30268432		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18829543		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23190890, 27632063, 33744299	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25595898	Stimulate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16896345		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12000749, 15300007, 18245468, 20702496, 21098263, 24025717, 24316392, 25743805, 27100732, 27553355, 28579578, 29295731, 29511350, 30268432, 30578408, 31202624, 31570773, 31669645		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28521440		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	27553211, 30697731		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Odontome	Odontome	CTD_human_DG	9207801		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	37350193	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16049973		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25743805, 27632063		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27632063		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25743805	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27632063	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29511350		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	18451335		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	BEFREE	21199695		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29662167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal carcinoma	Renal Carcinoma	BEFREE	29541189		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29541189		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30979887		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30630509		★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	18726671		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	18726671		★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	22203979		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	15149732		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	21199695		★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23082988	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23082988, 30268432		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27553355		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	27632063	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	35971932	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	CTD_human_DG	23397585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	35332119	Associate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	22284968		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	BEFREE	10330342, 11689487, 11748239, 12000749, 12005433, 12116211, 12668170, 12668638, 15289316, 15300007, 16530712, 16896345, 17265068, 17283120, 18467625, 19938096, 20942798, 21199695, 21784138, 22203979, 22535523, 23116943, 23624936, 23844108, 24025717, 24068957, 24664963, 24675841, 27491074, 30292786, 30550377, 30654152, 31669645, 9207801, 9611267		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	UNIPROT_DG	10330342		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	ORPHANET_DG	10330342, 12668170, 19938096		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	GENOMICS_ENGLAND_DG	12668170, 28145909		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	CTD_human_DG	9207801		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	30292786		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	39788453	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25394776, 35126619	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17054779, 28351298	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36622795	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	32627000	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular preexcitation	Ventricular preexcitation	BEFREE	22203979		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	18467625, 23116943		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only