Gene table of CHD7 : chromodomain helicase DNA binding protein 7

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CHD7	OMIM link	Number of associated genes	genes
608765	SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3	ClinVar	link to OMIM	1	CHD7
214800	CHARGE SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SEMA3E, CHD7
PS147950	HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	24	TAC3, FGFR1, PROKR2, NSMF, WDR11, HS6ST1, TACR3, KISS1, FEZF1, KISS1R, DUSP6, SEMA3A, FGF17, ANOS1, FSHB, CHD7, FGF8, PROK2, FLRT3, GNRHR, IL17RD, SPRY4, GNRH1, LHB

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Annotation of the gene CHD7

Associated genes in ENSEMBL

ENSG00000171316

Associated proteins - SwissProt Accession ID

Q9P2D1

Associated PDB IDs

Cytogenetic Band

8q12.2

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
purine ribonucleoside triphosphate binding	GO:0035639	2.22
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
regulatory region nucleic acid binding	GO:0001067	3.03
nucleoside-triphosphatase activity	GO:0017111	3.09
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
transcription regulatory region DNA binding	GO:0044212	3.03
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
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
purine ribonucleotide binding	GO:0032555	2.2
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
chromatin binding	GO:0003682	3.64
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19