Gene table of TBX1 : T-box 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TBX1	OMIM link	Number of associated genes	genes
187500	TETRALOGY OF FALLOT	ClinVar, OMIM	link to OMIM	7	GATA4, NKX2-5, TBX1, GATA6, ZFPM2, GDF1, JAG1
217095	CONOTRUNCAL HEART MALFORMATIONS	OMIM, HUMSAVAR	link to OMIM	6	NKX2-5, TBX1, GATA6, GDF1, NKX2-6, ZFPM2
192430	VELOCARDIOFACIAL SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TBX1
188400	DIGEORGE SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TBX1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sequence-specific DNA binding	GO:0043565	2.79
protein binding	GO:0005515	0.46
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
protein dimerization activity	GO:0046983	2.72
heterocyclic compound binding	GO:1901363	1.06
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16