Disease table of ANIRIDIA OMIM ID: 106210

Gene-disease associations table

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Gene	Associated with ANIRIDIA in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
ELP4	ClinVar, OMIM	HGNC link	11p13	1	106210
PAX6	ClinVar, OMIM, HUMSAVAR	HGNC link	11p13	8	148190, 120200, 106210, 206700, 604229, 120430, PS136520, 165550

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
11p13	2	PAX6, ELP4

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
11p13	2	PAX6, ELP4

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
11p1	2	PAX6, ELP4

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
11p	2	PAX6, ELP4

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
11	2	PAX6, ELP4

Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
PAX6	YES	12	FABP7, PROX1, GCK, ITGB1, SIX3, MET, PCSK1, PDHX, ITGA5, MMP2, KRT12, GCG	0

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
PAX6	YES	7	SP1, CTCF, OTX2, SOX2, TFCP2, FOXA2, SIRT1	0

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Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
macromolecular complex binding (GO:0044877)	2.61	2	ELP4, PAX6
enzyme binding (GO:0019899)	2.27	2	PAX6, ELP4
transferase activity (GO:0016740)	1.95	2	PAX6, ELP4
catalytic activity (GO:0003824)	1.05	2	PAX6, ELP4
protein binding (GO:0005515)	0.46	2	ELP4, PAX6
binding (GO:0005488)	0.18	2	PAX6, ELP4

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GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
regulation of protein phosphorylation (GO:0001932)	2.57	2	ELP4, PAX6
regulation of phosphorylation (GO:0042325)	2.5	2	PAX6, ELP4
regulation of phosphate metabolic process (GO:0019220)	2.35	2	PAX6, ELP4
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	ELP4, PAX6
regulation of protein modification process (GO:0031399)	2.32	2	PAX6, ELP4
regulation of transcription from RNA polymerase II promoter (GO:0006357)	2.24	2	PAX6, ELP4
regulation of cellular protein metabolic process (GO:0032268)	1.99	2	ELP4, PAX6
regulation of protein metabolic process (GO:0051246)	1.93	2	PAX6, ELP4
nucleic acid-templated transcription (GO:0097659)	1.91	2	PAX6, ELP4
transcription, DNA-templated (GO:0006351)	1.91	2	ELP4, PAX6

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GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
nucleoplasm (GO:0005654)	1.89	2	ELP4, PAX6
nuclear part (GO:0044428)	1.55	2	PAX6, ELP4
macromolecular complex (GO:0032991)	1.35	2	PAX6, ELP4
nucleus (GO:0005634)	1.07	2	PAX6, ELP4
cytoplasm (GO:0005737)	1.01	2	ELP4, PAX6
intracellular organelle part (GO:0044446)	0.81	2	ELP4, PAX6
organelle part (GO:0044422)	0.79	2	ELP4, PAX6
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	PAX6, ELP4
intracellular organelle (GO:0043229)	0.51	2	PAX6, ELP4
membrane-bounded organelle (GO:0043227)	0.47	2	PAX6, ELP4

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