Gene table of TWIST1 : twist family bHLH transcription factor 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TWIST1	OMIM link	Number of associated genes	genes
101400	SAETHRE-CHOTZEN SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	FGFR3, TWIST1, FGFR2
180750	ROBINOW-SORAUF SYNDROME	OMIM	link to OMIM	1	TWIST1
123100	CRANIOSYNOSTOSIS 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	TWIST1

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

KEGG pathway	KEGG ID	KEGG IC
Proteoglycans in cancer	hsa05205	5.02

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
transcription regulatory region DNA binding	GO:0044212	3.03
protein domain specific binding	GO:0019904	3.32
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
transcription factor binding	GO:0008134	3.46
regulatory region DNA binding	GO:0000975	3.03
regulatory region nucleic acid binding	GO:0001067	3.03
protein homodimerization activity	GO:0042803	3.16
identical protein binding	GO:0042802	2.63
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
bHLH transcription factor binding	GO:0043425	6.41
E-box binding	GO:0070888	6.21
protein dimerization activity	GO:0046983	2.72
protein heterodimerization activity	GO:0046982	3.64
heterocyclic compound binding	GO:1901363	1.06
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
nucleic acid binding transcription factor activity	GO:0001071	2.65