Gene table of PITX1 : paired like homeodomain 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PITX1	OMIM link	Number of associated genes	genes
186550	LIEBENBERG SYNDROME	OMIM	link to OMIM	1	PITX1
119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PITX1

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Annotation of the gene PITX1

Associated genes in ENSEMBL

ENSG00000069011

Associated proteins - SwissProt Accession ID

P78337

Associated PDB IDs

Cytogenetic Band

5q31.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
nucleic acid binding transcription factor activity	GO:0001071	2.65
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
transcriptional repressor activity, RNA polymerase II transcription factor binding	GO:0001191	5.28
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
transcriptional activator activity, RNA polymerase II transcription factor binding	GO:0001190	5.77
RNA polymerase II transcription factor binding	GO:0001085	5.08
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
transcriptional repressor activity, RNA polymerase II activating transcription factor binding	GO:0098811	5.77
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
organic cyclic compound binding	GO:0097159	1.05
binding	GO:0005488	0.18