Disease table of ANIRIDIA OMIM ID: 106210

Gene-disease associations table

GeneAssociated with ANIRIDIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ELP4ClinVar, OMIMHGNC link11p131106210
PAX6ClinVar, OMIM, HUMSAVARHGNC link11p138148190, 120200, 106210, 206700, 604229, 120430, PS136520, 165550

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
11p132PAX6, ELP4
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
11p132PAX6, ELP4
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
11p12PAX6, ELP4
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
11p2PAX6, ELP4
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
112PAX6, ELP4
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
PAX6YES12FABP7, PROX1, GCK, ITGB1, SIX3, MET, PCSK1, PDHX, ITGA5, MMP2, KRT12, GCG0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PAX6YES7SP1, CTCF, OTX2, SOX2, TFCP2, FOXA2, SIRT10
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

GOICNumber of genes with the same GOGenes
enzyme binding (GO:0019899) 2.272PAX6, ELP4
catalytic activity (GO:0003824) 1.052PAX6, ELP4
transferase activity (GO:0016740) 1.952PAX6, ELP4
macromolecular complex binding (GO:0044877) 2.612ELP4, PAX6
binding (GO:0005488) 0.182PAX6, ELP4
protein binding (GO:0005515) 0.462ELP4, PAX6
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
regulation of phosphate metabolic process (GO:0019220) 2.352PAX6, ELP4
regulation of primary metabolic process (GO:0080090) 1.082ELP4, PAX6
regulation of metabolic process (GO:0019222) 1.022ELP4, PAX6
regulation of cellular biosynthetic process (GO:0031326) 1.382PAX6, ELP4
regulation of cellular metabolic process (GO:0031323) 1.072PAX6, ELP4
nucleic acid metabolic process (GO:0090304) 1.462ELP4, PAX6
cellular biosynthetic process (GO:0044249) 1.372PAX6, ELP4
cellular nitrogen compound metabolic process (GO:0034641) 1.222PAX6, ELP4
nitrogen compound metabolic process (GO:0006807) 1.132ELP4, PAX6
cellular metabolic process (GO:0044237) 0.692PAX6, ELP4
cellular macromolecule biosynthetic process (GO:0034645) 1.662ELP4, PAX6
organic cyclic compound biosynthetic process (GO:1901362) 1.662PAX6, ELP4
regulation of biological process (GO:0050789) 0.452ELP4, PAX6
nucleic acid-templated transcription (GO:0097659) 1.912PAX6, ELP4
RNA biosynthetic process (GO:0032774) 1.842PAX6, ELP4
organic substance biosynthetic process (GO:1901576) 1.342ELP4, PAX6
cellular macromolecule metabolic process (GO:0044260) 0.932ELP4, PAX6
organic cyclic compound metabolic process (GO:1901360) 1.262ELP4, PAX6
regulation of protein metabolic process (GO:0051246) 1.932PAX6, ELP4
cellular component organization (GO:0016043) 1.242ELP4, PAX6
organic substance metabolic process (GO:0071704) 0.632PAX6, ELP4
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242PAX6, ELP4
biological regulation (GO:0065007) 0.392PAX6, ELP4
cellular component organization or biogenesis (GO:0071840) 1.222ELP4, PAX6
regulation of protein modification process (GO:0031399) 2.322PAX6, ELP4
cellular protein metabolic process (GO:0044267) 1.632ELP4, PAX6
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462ELP4, PAX6
regulation of gene expression (GO:0010468) 1.372PAX6, ELP4
heterocycle biosynthetic process (GO:0018130) 1.72ELP4, PAX6
RNA metabolic process (GO:0016070) 1.592PAX6, ELP4
biosynthetic process (GO:0009058) 1.322PAX6, ELP4
nucleobase-containing compound metabolic process (GO:0006139) 1.352ELP4, PAX6
regulation of macromolecule metabolic process (GO:0060255) 1.082PAX6, ELP4
cellular aromatic compound metabolic process (GO:0006725) 1.32ELP4, PAX6
cellular process (GO:0009987) 0.262ELP4, PAX6
regulation of biosynthetic process (GO:0009889) 1.372PAX6, ELP4
cellular protein modification process (GO:0006464) 1.792PAX6, ELP4
regulation of cellular process (GO:0050794) 0.52PAX6, ELP4
regulation of phosphorus metabolic process (GO:0051174) 2.352ELP4, PAX6
macromolecule modification (GO:0043412) 1.732PAX6, ELP4
protein modification process (GO:0036211) 1.792ELP4, PAX6
regulation of nucleic acid-templated transcription (GO:1903506) 1.552PAX6, ELP4
metabolic process (GO:0008152) 0.582ELP4, PAX6
regulation of RNA biosynthetic process (GO:2001141) 1.552PAX6, ELP4
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722ELP4, PAX6
heterocycle metabolic process (GO:0046483) 1.312ELP4, PAX6
regulation of phosphorylation (GO:0042325) 2.52PAX6, ELP4
primary metabolic process (GO:0044238) 0.692PAX6, ELP4
regulation of cellular protein metabolic process (GO:0032268) 1.992ELP4, PAX6
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592ELP4, PAX6
protein metabolic process (GO:0019538) 1.452ELP4, PAX6
regulation of RNA metabolic process (GO:0051252) 1.522PAX6, ELP4
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432ELP4, PAX6
macromolecule biosynthetic process (GO:0009059) 1.612PAX6, ELP4
macromolecule metabolic process (GO:0043170) 0.832ELP4, PAX6
regulation of transcription, DNA-templated (GO:0006355) 1.562ELP4, PAX6
regulation of macromolecule biosynthetic process (GO:0010556) 1.432ELP4, PAX6
transcription, DNA-templated (GO:0006351) 1.912ELP4, PAX6
aromatic compound biosynthetic process (GO:0019438) 1.72PAX6, ELP4
regulation of protein phosphorylation (GO:0001932) 2.572ELP4, PAX6
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PAX6, ELP4
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012ELP4, PAX6
intracellular organelle part (GO:0044446) 0.812ELP4, PAX6
macromolecular complex (GO:0032991) 1.352PAX6, ELP4
intracellular membrane-bounded organelle (GO:0043231) 0.62PAX6, ELP4
nucleus (GO:0005634) 1.072PAX6, ELP4
cell part (GO:0044464) 0.112ELP4, PAX6
nucleoplasm (GO:0005654) 1.892ELP4, PAX6
intracellular organelle (GO:0043229) 0.512PAX6, ELP4
nuclear part (GO:0044428) 1.552PAX6, ELP4
intracellular part (GO:0044424) 0.282ELP4, PAX6
membrane-bounded organelle (GO:0043227) 0.472PAX6, ELP4
organelle (GO:0043226) 0.42PAX6, ELP4
organelle part (GO:0044422) 0.792ELP4, PAX6