Gene table of ARX : aristaless related homeobox

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ARX	OMIM link	Number of associated genes	genes
300004	CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA	OMIM, HUMSAVAR	link to OMIM	1	ARX
PS607432	LISSENCEPHALY	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	CDK5, APOC3, PAFAH1B1, ARX, DCX, LAMB1, TUBA1A, RELN, KATNB1
PS309530	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	25	THOC2, HCFC1, RPS6KA3, USP9X, MID2, RAB39B, KIAA2022, ZNF81, PAK3, IQSEC2, DLG3, TSPAN7, ZDHHC15, ZNF711, KIF4A, ACSL4, BRWD3, IL1RAPL1, GDI1, SYP, ARHGEF6, ARX, DDX3X, GRIA3, FTSJ1
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	37	SZT2, EEF1A2, KCNT1, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, SCN8A, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, CDKL5, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, PNKP, SLC12A5, GABRA1, DOCK7, ARX, GRIN2B, NECAP1, PIGA
PS309510	MENTAL RETARDATION, X-LINKED SYNDROMIC	ClinVar, OMIM	link to OMIM	27	AP1S2, PRPS1, SMS, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, FGD1, PHF8, CLIC2, CASK, TAF1, IGBP1, CUL4B, PQBP1, NONO, UPF3B, ZDHHC9, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6

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
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
enhancer sequence-specific DNA binding	GO:0001158	5.36
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
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
double-stranded DNA binding	GO:0003690	3.09
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	5.58
regulatory region nucleic acid binding	GO:0001067	3.03
enhancer binding	GO:0035326	5.21
transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0001206	7.54
transcription regulatory region DNA binding	GO:0044212	3.03
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001227	4.61
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
regulatory region DNA binding	GO:0000975	3.03
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65