TBX5 (T-box transcription factor 5)

Gene

• Entrez ID: 6910
• Gene name: T-box transcription factor 5
• Gene symbol: TBX5
• Synonyms (NCBI Gene): HOS
• 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 gene is closely linked to related

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894377	C>A	Pathogenic	Coding sequence variant, stop gained
rs104894378	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894379	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs104894381	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894382	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894383	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894384	A>G	Pathogenic	Coding sequence variant, missense variant
rs115178276	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs147405081	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Missense variant, coding sequence variant
rs200461617	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs377649723	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs483353129	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs515726234	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs756049331	G>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs765204502	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs767197919	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs773397553	G>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs863223773	C>G	Pathogenic	Missense variant, coding sequence variant
rs863223776	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863223777	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs863223778	G>A	Pathogenic	Stop gained, coding sequence variant
rs863223782	GGCCAGGCATGGCGGGCTCAGCTTTGC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs863223783	GGTGGCGGGGGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223784	CAATGCGCCCCGGTGGCGGGGGA>TCCTGG	Pathogenic	Frameshift variant, coding sequence variant
rs863223785	TGAGCTTGAGTTTCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223786	->T	Pathogenic	Frameshift variant, coding sequence variant
rs863223788	G>A	Pathogenic	Stop gained, coding sequence variant
rs878853750	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041247	G>C,T	Pathogenic	Coding sequence variant, stop gained
rs886041606	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs903933027	G>C,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1057516042	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1057517833	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057518199	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519050	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520136	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060503154	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064794030	C>A	Pathogenic	Stop gained, coding sequence variant
rs1064794062	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064795870	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1131691460	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691932	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555223259	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555223294	TTC>CT,GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555225344	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555225989	->AACG	Pathogenic	Frameshift variant, coding sequence variant
rs1555226005	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555226301	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1555226305	TTGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555226315	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555226322	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555226412	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555226420	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555226575	C>A,T	Likely-pathogenic	Intron variant
rs1555226584	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555226588	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565923835	G>C	Pathogenic	Stop gained, coding sequence variant
rs1565923887	C>A	Pathogenic	Stop gained, coding sequence variant
rs1565927645	G>A	Pathogenic	Stop gained, coding sequence variant
rs1565927664	G>C	Pathogenic	Stop gained, coding sequence variant
rs1565927740	A>T	Pathogenic	Stop gained, coding sequence variant
rs1565927747	G>A	Pathogenic	Stop gained, coding sequence variant
rs1565927794	G>A	Pathogenic	Missense variant, coding sequence variant
rs1565927906	C>G	Pathogenic	Splice acceptor variant
rs1565935314	A>G	Likely-pathogenic	Splice donor variant
rs1565935397	C>A	Pathogenic	Stop gained, coding sequence variant
rs1565935410	AATC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565935426	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1565935432	A>C	Pathogenic	Stop gained, coding sequence variant
rs1565935458	T>C	Likely-pathogenic	Splice acceptor variant
rs1565939303	->TTTTCATCCGCTTT	Pathogenic	Frameshift variant, coding sequence variant
rs1565939337	G>T	Pathogenic	Stop gained, coding sequence variant
rs1565940841	C>A	Likely-pathogenic	Splice donor variant
rs1565941046	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565941072	T>C	Likely-pathogenic	Splice acceptor variant
rs1565941422	G>T	Pathogenic	Stop gained, coding sequence variant
rs1565941529	T>A	Pathogenic	Stop gained, coding sequence variant
rs1565941579	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1565941587	ATCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565942511	T>C	Likely-pathogenic	Splice acceptor variant
rs1565943328	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1593836748	->CG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1593847163	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593876058	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593880204	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593881162	A>G	Pathogenic	Splice donor variant
rs1593883930	AACACTTTGA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018791	hsa-miR-335-5p	Microarray	18185580
MIRT1415302	hsa-miR-2355-3p	CLIP-seq
MIRT1415303	hsa-miR-3119	CLIP-seq
MIRT1415304	hsa-miR-342-3p	CLIP-seq
MIRT1415305	hsa-miR-4639-3p	CLIP-seq
MIRT1415306	hsa-miR-4646-3p	CLIP-seq
MIRT1415307	hsa-miR-520d-5p	CLIP-seq
MIRT1415308	hsa-miR-524-5p	CLIP-seq
MIRT1415309	hsa-miR-603	CLIP-seq
MIRT1415310	hsa-miR-1208	CLIP-seq
MIRT1415311	hsa-miR-128	CLIP-seq
MIRT1415312	hsa-miR-1910	CLIP-seq
MIRT1415313	hsa-miR-27a	CLIP-seq
MIRT1415314	hsa-miR-27b	CLIP-seq
MIRT1415315	hsa-miR-4722-3p	CLIP-seq
MIRT2440929	hsa-miR-4434	CLIP-seq
MIRT2440930	hsa-miR-4516	CLIP-seq
MIRT1415310	hsa-miR-1208	CLIP-seq
MIRT1415311	hsa-miR-128	CLIP-seq
MIRT1415312	hsa-miR-1910	CLIP-seq
MIRT1415313	hsa-miR-27a	CLIP-seq
MIRT1415314	hsa-miR-27b	CLIP-seq
MIRT2461215	hsa-miR-4282	CLIP-seq
MIRT1415315	hsa-miR-4722-3p	CLIP-seq
MIRT2461216	hsa-miR-873	CLIP-seq
MIRT2639556	hsa-miR-1207-3p	CLIP-seq
MIRT1415310	hsa-miR-1208	CLIP-seq
MIRT2639557	hsa-miR-1252	CLIP-seq
MIRT2639558	hsa-miR-1256	CLIP-seq
MIRT2639559	hsa-miR-1257	CLIP-seq
MIRT2639560	hsa-miR-1265	CLIP-seq
MIRT2639561	hsa-miR-1268	CLIP-seq
MIRT2639562	hsa-miR-1268b	CLIP-seq
MIRT2639563	hsa-miR-1273g	CLIP-seq
MIRT2639564	hsa-miR-1275	CLIP-seq
MIRT1415311	hsa-miR-128	CLIP-seq
MIRT2639565	hsa-miR-1323	CLIP-seq
MIRT2639566	hsa-miR-1827	CLIP-seq
MIRT1415312	hsa-miR-1910	CLIP-seq
MIRT2639567	hsa-miR-200b	CLIP-seq
MIRT2639568	hsa-miR-200c	CLIP-seq
MIRT2639569	hsa-miR-2113	CLIP-seq
MIRT2639570	hsa-miR-224	CLIP-seq
MIRT2639571	hsa-miR-2392	CLIP-seq
MIRT2639572	hsa-miR-23a	CLIP-seq
MIRT2639573	hsa-miR-23b	CLIP-seq
MIRT2639574	hsa-miR-23c	CLIP-seq
MIRT1415313	hsa-miR-27a	CLIP-seq
MIRT1415314	hsa-miR-27b	CLIP-seq
MIRT2639575	hsa-miR-30a	CLIP-seq
MIRT2639576	hsa-miR-30b	CLIP-seq
MIRT2639577	hsa-miR-30c	CLIP-seq
MIRT2639578	hsa-miR-30d	CLIP-seq
MIRT2639579	hsa-miR-30e	CLIP-seq
MIRT2639580	hsa-miR-31	CLIP-seq
MIRT2639581	hsa-miR-3128	CLIP-seq
MIRT2639582	hsa-miR-3145-5p	CLIP-seq
MIRT2639583	hsa-miR-3148	CLIP-seq
MIRT2639584	hsa-miR-3150a-3p	CLIP-seq
MIRT2639585	hsa-miR-3158-3p	CLIP-seq
MIRT2639586	hsa-miR-3175	CLIP-seq
MIRT2639587	hsa-miR-3183	CLIP-seq
MIRT2639588	hsa-miR-329	CLIP-seq
MIRT2639589	hsa-miR-345	CLIP-seq
MIRT2639590	hsa-miR-362-3p	CLIP-seq
MIRT2639591	hsa-miR-3650	CLIP-seq
MIRT2639592	hsa-miR-3652	CLIP-seq
MIRT2639593	hsa-miR-3663-3p	CLIP-seq
MIRT2639594	hsa-miR-374c	CLIP-seq
MIRT2639595	hsa-miR-3920	CLIP-seq
MIRT2639596	hsa-miR-3941	CLIP-seq
MIRT2639597	hsa-miR-3978	CLIP-seq
MIRT2639598	hsa-miR-4265	CLIP-seq
MIRT2639599	hsa-miR-4270	CLIP-seq
MIRT2639600	hsa-miR-4271	CLIP-seq
MIRT2639601	hsa-miR-4279	CLIP-seq
MIRT2461215	hsa-miR-4282	CLIP-seq
MIRT2639602	hsa-miR-429	CLIP-seq
MIRT2639603	hsa-miR-4296	CLIP-seq
MIRT2639604	hsa-miR-4302	CLIP-seq
MIRT2639605	hsa-miR-4310	CLIP-seq
MIRT2639606	hsa-miR-4322	CLIP-seq
MIRT2639607	hsa-miR-4328	CLIP-seq
MIRT2639608	hsa-miR-4417	CLIP-seq
MIRT2639609	hsa-miR-4426	CLIP-seq
MIRT2639610	hsa-miR-4427	CLIP-seq
MIRT2639611	hsa-miR-4430	CLIP-seq
MIRT2639612	hsa-miR-4441	CLIP-seq
MIRT2639613	hsa-miR-4446-3p	CLIP-seq
MIRT2639614	hsa-miR-4455	CLIP-seq
MIRT2639615	hsa-miR-4474-3p	CLIP-seq
MIRT2639616	hsa-miR-4487	CLIP-seq
MIRT2639617	hsa-miR-4505	CLIP-seq
MIRT2639618	hsa-miR-452	CLIP-seq
MIRT2639619	hsa-miR-4525	CLIP-seq
MIRT2639620	hsa-miR-4642	CLIP-seq
MIRT2639621	hsa-miR-4647	CLIP-seq
MIRT2639622	hsa-miR-4656	CLIP-seq
MIRT2639623	hsa-miR-4658	CLIP-seq
MIRT2639624	hsa-miR-466	CLIP-seq
MIRT2639625	hsa-miR-4662a-3p	CLIP-seq
MIRT2639626	hsa-miR-4662b	CLIP-seq
MIRT2639627	hsa-miR-4665-5p	CLIP-seq
MIRT2639628	hsa-miR-4666-5p	CLIP-seq
MIRT2639629	hsa-miR-4667-5p	CLIP-seq
MIRT2639630	hsa-miR-4668-5p	CLIP-seq
MIRT2639631	hsa-miR-4670-5p	CLIP-seq
MIRT2639632	hsa-miR-4672	CLIP-seq
MIRT2639633	hsa-miR-4676-3p	CLIP-seq
MIRT2639634	hsa-miR-4696	CLIP-seq
MIRT2639635	hsa-miR-4697-3p	CLIP-seq
MIRT2639636	hsa-miR-4700-5p	CLIP-seq
MIRT1415315	hsa-miR-4722-3p	CLIP-seq
MIRT2639637	hsa-miR-4723-3p	CLIP-seq
MIRT2639638	hsa-miR-4723-5p	CLIP-seq
MIRT2639639	hsa-miR-4725-3p	CLIP-seq
MIRT2639640	hsa-miR-4738-5p	CLIP-seq
MIRT2639641	hsa-miR-4753-3p	CLIP-seq
MIRT2639642	hsa-miR-4755-3p	CLIP-seq
MIRT2639643	hsa-miR-4758-5p	CLIP-seq
MIRT2639644	hsa-miR-4768-5p	CLIP-seq
MIRT2639645	hsa-miR-4777-5p	CLIP-seq
MIRT2639646	hsa-miR-498	CLIP-seq
MIRT2639647	hsa-miR-518d-5p	CLIP-seq
MIRT2639648	hsa-miR-519b-5p	CLIP-seq
MIRT2639649	hsa-miR-519c-5p	CLIP-seq
MIRT2639650	hsa-miR-520c-5p	CLIP-seq
MIRT2639651	hsa-miR-521	CLIP-seq
MIRT2639652	hsa-miR-526a	CLIP-seq
MIRT2639653	hsa-miR-548a-3p	CLIP-seq
MIRT2639654	hsa-miR-548e	CLIP-seq
MIRT2639655	hsa-miR-548f	CLIP-seq
MIRT2639656	hsa-miR-548o	CLIP-seq
MIRT2639657	hsa-miR-555	CLIP-seq
MIRT2639658	hsa-miR-562	CLIP-seq
MIRT2639659	hsa-miR-563	CLIP-seq
MIRT2639660	hsa-miR-585	CLIP-seq
MIRT2639661	hsa-miR-599	CLIP-seq
MIRT1415309	hsa-miR-603	CLIP-seq
MIRT2639662	hsa-miR-609	CLIP-seq
MIRT2639663	hsa-miR-625	CLIP-seq
MIRT2639664	hsa-miR-637	CLIP-seq
MIRT2639665	hsa-miR-655	CLIP-seq
MIRT2639666	hsa-miR-875-3p	CLIP-seq
MIRT2639667	hsa-miR-9	CLIP-seq
MIRT2639668	hsa-miR-939	CLIP-seq
MIRT2639556	hsa-miR-1207-3p	CLIP-seq
MIRT1415310	hsa-miR-1208	CLIP-seq
MIRT2692744	hsa-miR-1237	CLIP-seq
MIRT2692745	hsa-miR-1248	CLIP-seq
MIRT2639560	hsa-miR-1265	CLIP-seq
MIRT2639563	hsa-miR-1273g	CLIP-seq
MIRT1415311	hsa-miR-128	CLIP-seq
MIRT1415312	hsa-miR-1910	CLIP-seq
MIRT2639570	hsa-miR-224	CLIP-seq
MIRT2639571	hsa-miR-2392	CLIP-seq
MIRT2639572	hsa-miR-23a	CLIP-seq
MIRT2639573	hsa-miR-23b	CLIP-seq
MIRT2639574	hsa-miR-23c	CLIP-seq
MIRT1415313	hsa-miR-27a	CLIP-seq
MIRT1415314	hsa-miR-27b	CLIP-seq
MIRT2639580	hsa-miR-31	CLIP-seq
MIRT2639581	hsa-miR-3128	CLIP-seq
MIRT2639585	hsa-miR-3158-3p	CLIP-seq
MIRT2639587	hsa-miR-3183	CLIP-seq
MIRT2639595	hsa-miR-3920	CLIP-seq
MIRT2639597	hsa-miR-3978	CLIP-seq
MIRT2639601	hsa-miR-4279	CLIP-seq
MIRT2461215	hsa-miR-4282	CLIP-seq
MIRT2639609	hsa-miR-4426	CLIP-seq
MIRT2639610	hsa-miR-4427	CLIP-seq
MIRT2639613	hsa-miR-4446-3p	CLIP-seq
MIRT2639616	hsa-miR-4487	CLIP-seq
MIRT2639621	hsa-miR-4647	CLIP-seq
MIRT2639622	hsa-miR-4656	CLIP-seq
MIRT2639625	hsa-miR-4662a-3p	CLIP-seq
MIRT2639626	hsa-miR-4662b	CLIP-seq
MIRT1415315	hsa-miR-4722-3p	CLIP-seq
MIRT2639637	hsa-miR-4723-3p	CLIP-seq
MIRT2639641	hsa-miR-4753-3p	CLIP-seq
MIRT2639644	hsa-miR-4768-5p	CLIP-seq
MIRT2639646	hsa-miR-498	CLIP-seq
MIRT2692746	hsa-miR-593	CLIP-seq
MIRT2639666	hsa-miR-875-3p	CLIP-seq
MIRT2692747	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NKX2-5	Unknown	15095414

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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	26926761
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
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	IDA	29174768
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001708	Process	Cell fate specification	IBA
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003163	Process	Sinoatrial node development	IEA
GO:0003163	Process	Sinoatrial node development	ISS	11572777
GO:0003166	Process	Bundle of His development	IEA
GO:0003166	Process	Bundle of His development	ISS
GO:0003167	Process	Atrioventricular bundle cell differentiation	IEA
GO:0003167	Process	Atrioventricular bundle cell differentiation	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003197	Process	Endocardial cushion development	IEA
GO:0003218	Process	Cardiac left ventricle formation	IBA
GO:0003218	Process	Cardiac left ventricle formation	IEA
GO:0003218	Process	Cardiac left ventricle formation	ISS
GO:0003229	Process	Ventricular cardiac muscle tissue development	IEA
GO:0003281	Process	Ventricular septum development	IEA
GO:0003281	Process	Ventricular septum development	ISS
GO:0003283	Process	Atrial septum development	IEA
GO:0003677	Function	DNA binding	IDA	16332960
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11431700, 12499378, 16332960
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	11431700
GO:0005515	Function	Protein binding	IPI	11431700, 12499378, 12845333, 16332960, 23245941, 24000169, 26926761, 29174768, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12237100, 12499378, 14519429, 29174768
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	14519429, 29174768
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	20299672
GO:0006355	Process	Regulation of 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:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007267	Process	Cell-cell signaling	IDA	11161571
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007389	Process	Pattern specification process	IBA
GO:0007389	Process	Pattern specification process	IEA
GO:0007507	Process	Heart development	IDA	15138308
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	8988164, 8988165
GO:0007507	Process	Heart development	IMP	8988165, 16183809, 25963046
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	11161571, 12237100
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	TAS	20299672
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IMP	8988164
GO:0030336	Process	Negative regulation of cell migration	IDA	15138308
GO:0032991	Component	Protein-containing complex	IDA	26926761
GO:0032993	Component	Protein-DNA complex	IDA	26926761
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IMP	16183809
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	IMP	8988164, 8988165
GO:0043565	Function	Sequence-specific DNA binding	IDA	11431700, 12499378
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11431700, 12499378, 12845333, 16332960, 27035640
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	IDA	29174768
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11431700
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0051891	Process	Positive regulation of cardioblast differentiation	IDA	11431700
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060039	Process	Pericardium development	IDA	15138308
GO:0060044	Process	Negative regulation of cardiac muscle cell proliferation	IDA	11161571
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	ISS
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060928	Process	Atrioventricular node cell development	IEA
GO:0060928	Process	Atrioventricular node cell development	ISS
GO:0060929	Process	Atrioventricular node cell fate commitment	IEA
GO:0060929	Process	Atrioventricular node cell fate commitment	ISS
GO:0060980	Process	Cell migration involved in coronary vasculogenesis	TAS	20299672
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	11431700
GO:0072513	Process	Positive regulation of secondary heart field cardioblast proliferation	IEA
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	IEA
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	ISS
GO:1901846	Process	Positive regulation of cell communication by electrical coupling involved in cardiac conduction	TAS	15289437
GO:1903598	Process	Positive regulation of gap junction assembly	IEA
GO:1903598	Process	Positive regulation of gap junction assembly	ISS
GO:1903781	Process	Positive regulation of cardiac conduction	IEA
GO:1903781	Process	Positive regulation of cardiac conduction	ISS

Other IDs

• MIM: 601620
• HGNC: 11604
• e!Ensembl: ENSG00000089225

Protein

• UniProt ID: Q99593
• Protein name: T-box transcription factor TBX5 (T-box protein 5)
• Protein function: DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:26917986, PubMed:27035640, PubMed:29174768, PubMed:8988164). Binds to
• PDB: 2X6U, 2X6V, 4S0H, 5BQD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	56 → 238	T-box	Domain

• Sequence:

  MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHE
  RELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNK
  WSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ
  PRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSD
  DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGP
  SQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQ
  QQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDR
  LPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPG
  TLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS

• Sequence length: 518

Pathways

Reactome:

YAP1- and WWTR1 (TAZ)-stimulated gene expression
Physiological factors

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 valve disease 2	Pathogenic; Likely pathogenic	rs2136410724, rs2136418265, rs2136411098, rs2136373795, rs2136416963, rs2136418056, rs2136418310, rs2136360335, rs2136373205, rs2136397746, rs1408227928, rs2136360259, rs2136373802, rs2136373207, rs2136416601, rs2540424549, rs2540436320, rs863223788, rs863223786, rs863223777, rs1565942511, rs104894378, rs104894382, rs878853750, rs886041247, rs2540466994, rs2540436107, rs2540436238, rs1565943262, rs2540477662, rs2540467182, rs2540475270, rs1057516042, rs1057520136, rs863223776, rs1555226420, rs1060503154, rs1555225344, rs1555225989, rs1555226005, rs1555226322, rs1565941046, rs1565927747, rs1565923835, rs1565941072, rs1565939215, rs1593847163, rs1593883930, rs1593881162, rs1870762150, rs1871328960, rs1871673161, rs1208004863, rs1872004016, rs1871328488, rs1871673582, rs1869539814, rs1593836748, rs1871830996, rs1869545659	RCV003647836 RCV001372014 RCV001379657 RCV001385806 RCV001384367 RCV001388526 RCV001384609 RCV001939419 RCV001950829 RCV001964425 RCV002002406 RCV001960714 RCV002041938 RCV001913555 RCV001986375 RCV003647921 RCV002843988 RCV000459213 RCV002517187 RCV001390030 RCV002914362 RCV002967760 RCV000474989 RCV000473181 RCV000227368 RCV000654912 RCV003533931 RCV003534104 RCV003534064 RCV003531474 RCV003531564 RCV003532547 RCV003648289 RCV003532089 RCV000460311 RCV000466448 RCV000466953 RCV000466209 RCV000654913 RCV000531546 RCV000654911 RCV000654910 RCV000700317 RCV000690734 RCV000687827 RCV000697914 RCV001056565 RCV000816157 RCV000813382 RCV000823855 RCV001049864 RCV001062251 RCV001068835 RCV001035895 RCV001063573 RCV001053399 RCV001060636 RCV001214359 RCV001230100 RCV001243434 RCV001239166 RCV001229255	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial septal defect 1	Pathogenic	rs1555226315	RCV000508630	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect, ostium secundum type	Pathogenic	rs1555223259	RCV000590978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2136373205, rs2540425164, rs2540424549, rs104894378, rs104894382, rs767197919, rs2540471436, rs886041247, rs1565941576, rs1593881162	RCV004996155 RCV002351588 RCV002389570 RCV002362569 RCV002362570 RCV006342922 RCV004266735 RCV004021059 RCV006342541 RCV005405326	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart disease (variable)	Likely pathogenic	rs1555223294	RCV000590641 RCV000587686	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial atrioventricular septal defect	Likely pathogenic	rs1057519050	RCV000416326	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of	Likely pathogenic; Pathogenic	rs515726234, rs104894382	RCV000128626 RCV000128627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Holt-Oram syndrome	Pathogenic; Likely pathogenic	rs1871662633, rs1870765797, rs1871659583, rs2136418232, rs2136421421, rs2136421561, rs2540471641, rs863223778, rs863223788, rs104894377, rs104894378, rs104894381, rs104894382, rs1593880204, rs104894383, rs104894384, rs104894379, rs1555226315, rs767197919, rs2540457334, rs863223776, rs886041247, rs1565935405, rs2540436280, rs2540457891, rs2540472661, rs2540472643, rs2540467152, rs1871673582, rs1057516042, rs1555225344, rs1064795870, rs1565941587, rs1565927747, rs1565923488, rs1565923537, rs756049331, rs377649723, rs765204502, rs1565923863, rs1565923887, rs1565927614, rs1565927645, rs1565927664, rs1565927673, rs1565927740, rs1565927794, rs1565935314, rs1565935345, rs1565935383, rs1565935397, rs1565935410, rs1565935426, rs1565935432, rs1565935458, rs1565939204, rs1565939215, rs1565939303, rs1565939337, rs1555226301, rs1565940841, rs1565940856, rs1565940860, rs1565940930, rs1565941003, rs1565941422, rs1565941434, rs1565941529, rs1565941576, rs1565941579, rs1555226575, rs1565942511, rs903933027, rs1565943328, rs1593876058, rs1869529188, rs1555226581, rs1869545659	RCV001332266 RCV001334303 RCV001334302 RCV001530478 RCV005050392 RCV001730136 RCV002288335 RCV004555857 RCV000782289 RCV000008456 RCV000008457 RCV000008458 RCV000008459 RCV000008460 RCV000008461 RCV000008462 RCV000008463 RCV000782309 RCV003153142 RCV003228719 RCV000782337 RCV000782331 RCV003318328 RCV005871128 RCV003984873 RCV003984875 RCV003984876 RCV003486521 RCV004595003 RCV000408637 RCV000782334 RCV000578349 RCV000760294 RCV000782303 RCV005897327 RCV000782310 RCV000782294 RCV000782293 RCV000782314 RCV000782302 RCV000782345 RCV000782300 RCV000782340 RCV000782347 RCV000782341 RCV000782333 RCV000782296 RCV000782316 RCV000782298 RCV000782311 RCV000782299 RCV000782327 RCV000782317 RCV000782325 RCV000782346 RCV000782324 RCV000782312 RCV000782297 RCV000782329 RCV000782304 RCV000782336 RCV000782291 RCV000782307 RCV000782320 RCV000782326 RCV000782323 RCV000782301 RCV000782339 RCV000782328 RCV000782348 RCV000782342 RCV000782306 RCV000782292 RCV000782338 RCV000782330 RCV000782344 RCV000988919 RCV001257575 RCV005054332 RCV001193147 RCV001270727	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitral regurgitation	Pathogenic	rs1555223259	RCV000590978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic	rs2136410724	RCV001594459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TBX5-related disorder	Pathogenic; Likely pathogenic	rs863223788, rs863223776, rs104894379, rs2136411098, rs1871328488	RCV003390935 RCV004730904 RCV003398470 RCV003416805 RCV003396678	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ventricular septal defect	Pathogenic	rs1555223259	RCV000590978	★★★★☆ 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
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR BLOCK	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR SEPTAL DEFECT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acheiropodia	Acheiropodia	BEFREE	26749485		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	26783083		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26845116		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	34238250	Associate	★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	24664498		★☆☆☆☆ Found in Text Mining only
AORTIC VALVE DISEASE 2	Aortic Valve Disease	CLINVAR_DG	10077612, 10077762, 11555635, 12499378, 12789647, 15710732, 16183809, 16380715, 16917909, 17534187, 20519243, 21637475, 25500235, 25931334, 8988164, 8988165		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	23717681, 25725155, 26762269	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28782180		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28782180	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	12789647	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	18451335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	20062063, 23717681, 26762269, 26917986, 27035640, 27479212, 27582060, 28337273, 29459676, 29930145, 30353147, 30896405, 31609246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASDB_DG	22544366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	23717681, 26267381, 26762269, 26917986, 27479212, 29459676, 29545482, 33350184	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	28416818, 28416822, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defects	Atrial Septal Defect	BEFREE	10373308, 14557051, 18706711, 24498650, 25307363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Standstill	Atrial standstill	Pubtator	23717681	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	20062063, 23717681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	Pubtator	23717681	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	26490186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	23816608		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30834692	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25447851, 26783083		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25447851, 26783083	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25552398		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	25691538		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	8262676		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34238250	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	10373308, 28057264		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	37277029	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25725155, 34011823	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	25725155, 25963046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	25725155, 25963046		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	10077612	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	29100088	Associate	★☆☆☆☆ Found in Text Mining only
Choroid Plexus Carcinoma	Choroid Plexus Carcinoma	BEFREE	28580685		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	26219450	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20802524		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	20802524		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29316729		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34526059	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	27833996		★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	BEFREE	30143665		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	10373308, 11431700, 12499378, 12845333, 15095414, 15923624, 16917909, 18378906, 19648116, 22194017, 26780237, 28164238, 28434921, 30552424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	12436037, 15096952, 15221798, 16183809, 17668378, 18378906, 19187613, 20433683, 21990232, 22011241, 22449847, 22543974, 22885181, 25725155, 28761722, 30834692		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	27833996		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28469241		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23863953, 28469241	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28469241, 31775637		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18337497, 21990232, 22543974, 22885181, 26283027, 26744331, 27426723, 30552424		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25320281, 31376087		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28782180		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	15923624		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28469241	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26634513	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	12768655, 18726671		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	30834692	Associate	★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	30834692	Associate	★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	28469241	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31779688		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31779688, 34238250	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	8262676		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	9425296		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	12220726		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26783083		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	24676544		★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26490186		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	12789647, 19648116, 22011241, 25725155, 26283027, 26401820, 29952356, 30552424, 30834692, 35121196, 35514310, 35697867, 37096669, 40430071	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	10077612, 19648116, 28469241, 31388035, 35514310, 37210946	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	12173684, 28469241		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	18451335		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	10373308, 12845333, 19084512, 27984724, 30834692		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	29952356, 30834692	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	30552424	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	35870951, 36759823, 37210946	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31373354		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	29545482	Associate	★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	10077612, 10842287, 10974675, 11431700, 11572777, 12210327, 12237100, 12499378, 12768655, 12789647, 12818525, 15039979, 15095414, 15096952, 15221798, 15735645, 15823919, 15923624, 16183809, 16332960, 16376438, 16691575, 16917909, 17534187, 18351627, 18378906, 18451335, 18828908, 19648116, 20519243, 22011241, 22333898, 22543974, 24408148, 24664963, 25263169, 25274398, 25623069, 25680289, 26219450, 26780237, 27035640, 27426723, 27992425, 28057264, 28164238, 29174768, 29461882, 30552424, 31373354, 8988164, 8988165		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holt-Oram syndrome	Holt-Oram Syndrome	UNIPROT_DG	10077612, 10842287, 12818525, 15735645, 20450920, 8988164, 8988165		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holt-Oram syndrome	Holt-Oram Syndrome	CLINVAR_DG	10077612, 11431700, 11555635, 12499378, 19648116, 20450920, 20519243, 21897873, 26938784, 8988165		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holt-Oram syndrome	Holt-Oram Syndrome	CTD_human_DG	15735645		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holt-Oram syndrome	Holt-Oram Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Holt-Oram syndrome	Holt-Oram Syndrome	GENOMICS_ENGLAND_DG	29755943, 8730285, 8988164		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertensive disease	Hypertension	BEFREE	19430479		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26634513, 27477082	Associate	★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	22776023		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	11431700, 12436037, 12789647, 16917909, 20450920		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23898085, 24222167		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	33369127	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30120911	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25552398		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31779688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21665377		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20802524, 28473879, 28971975, 29019495, 31218831, 31277454, 9639407		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20802524		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35003317	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28782180		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22170361	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22170361		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	9201704		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29276141, 31541743		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12850370, 20802524, 21717192, 22948234, 23315976, 24078465, 24803022, 28276311, 28751246, 30132552		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23816608		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27664533, 28276311, 30195702		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1A	Oculocutaneous albinism	BEFREE	30844313		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10854558, 11089884, 11948684, 12220726, 12529988, 12850370, 1423871, 14534726, 15345332, 19623575, 2036957, 21460855, 21637161, 21822121, 22849560, 23315976, 23322324, 24229684, 24447333, 2450880, 24577130, 24803022, 24993351, 25394505, 25627547, 26339351, 26498360, 27310302, 27447864, 27684494, 27930982, 28128919, 28204978, 28281638, 28390115, 28393220, 28551767, 28618955, 28891632, 29019495, 29048645, 29048647, 29048662, 29363721, 29619662, 29654165, 29672299, 29693191, 29845265, 29879092, 30008875, 30013663, 30094957, 30106429, 30132552, 30248086, 30273544, 30317613, 30520540, 30761524, 31114984, 31218831, 31524248, 31564904, 3164526, 31770037, 8262676, 8992882		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	CLINVAR_DG	29555671		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	18451335, 27035640		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30834692		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	34027909	Associate	★☆☆☆☆ Found in Text Mining only
Persistent Ostium Primum	Persistent Ostium Primum	BEFREE	10373308		★☆☆☆☆ Found in Text Mining only
Phocomelia	Phocomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	8730285		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21665377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26423011	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Venous Return Anomaly	Pulmonary Venous Return Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30016433		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15538723		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	18787502		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	18787502	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25320281, 28782180, 29545315, 30016433		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	12768655, 18726671		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	12768655, 18726671		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	24327519		★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	24479926, 32368852	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	25263169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Townes syndrome	Townes Syndrome	BEFREE	12393809		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	BEFREE	19581825		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	22170361		★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	BEFREE	26490186		★☆☆☆☆ Found in Text Mining only
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	BEFREE	9611267		★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities Congenital	Upper extremity deformity, congenital	Pubtator	19648116	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	11376442, 19187613, 28164238, 28434921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG	29555671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wildervanck`s syndrome	Wildervanck`s Syndrome	CTD_human_DG	15735645		★☆☆☆☆ Found in Text Mining only