Gene table of TBX5 : T-box 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TBX5	OMIM link	Number of associated genes	genes
142900	HOLT-ORAM SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TBX5
234750	HEART, MALFORMATION OF	ClinVar	link to OMIM	3	MYH6, TBX5, NOTCH1
140500	HEART, MALFORMATION OF	ClinVar	link to OMIM	3	MYH6, TBX5, NOTCH1

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

REACTOME pathway	REACTOME ID	REACTOME IC
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
YAP1- and WWTR1 (TAZ)-stimulated gene expression	R-HSA-2032785	8.12

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
nucleic acid binding transcription factor activity	GO:0001071	2.65
protein binding	GO:0005515	0.46
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription factor binding	GO:0008134	3.46
DNA binding	GO:0003677	1.92
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
regulatory region nucleic acid binding	GO:0001067	3.03
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
nucleic acid binding	GO:0003676	1.44
regulatory region DNA binding	GO:0000975	3.03
double-stranded DNA binding	GO:0003690	3.09
heterocyclic compound binding	GO:1901363	1.06
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
binding	GO:0005488	0.18