Disease table of AXENFELD-RIEGER SYNDROME, TYPE 1 OMIM ID: 180500

Gene-disease associations table

GeneAssociated with AXENFELD-RIEGER SYNDROME, TYPE 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PITX2ClinVar, OMIM, HUMSAVARHGNC link4q254604229, 180550, 180500, 137600
PRDM5ClinVarHGNC link4q272PS229200, 180500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
4q22PITX2, PRDM5
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
4q2PITX2, PRDM5
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
42PITX2, PRDM5
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
PITX2YES9LEF1, HESX1, ABCB1, SLC13A3, WNT2, LHX6, PRL, PLOD1, WNT5A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PITX2PRDM5No1HDAC1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

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 / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
RNA polymerase II regulatory region DNA binding (GO:0001012) 3.362PRDM5, PITX2
core promoter proximal region DNA binding (GO:0001159) 3.822PRDM5, PITX2
binding (GO:0005488) 0.182PRDM5, PITX2
nucleic acid binding (GO:0003676) 1.442PRDM5, PITX2
DNA binding (GO:0003677) 1.922PRDM5, PITX2
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0001078) 5.082PRDM5, PITX2
heterocyclic compound binding (GO:1901363) 1.062PRDM5, PITX2
sequence-specific DNA binding (GO:0043565) 2.792PRDM5, PITX2
sequence-specific double-stranded DNA binding (GO:1990837) 3.22PRDM5, PITX2
core promoter proximal region sequence-specific DNA binding (GO:0000987) 3.832PRDM5, PITX2
double-stranded DNA binding (GO:0003690) 3.092PRDM5, PITX2
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982) 3.942PRDM5, PITX2
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981) 3.292PRDM5, PITX2
transcription factor binding (GO:0008134) 3.462PRDM5, PITX2
regulatory region nucleic acid binding (GO:0001067) 3.032PRDM5, PITX2
transcription regulatory region DNA binding (GO:0044212) 3.032PRDM5, PITX2
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001227) 4.612PRDM5, PITX2
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.652PRDM5, PITX2
organic cyclic compound binding (GO:0097159) 1.052PRDM5, PITX2
transcription regulatory region sequence-specific DNA binding (GO:0000976) 3.242PRDM5, PITX2
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977) 3.372PRDM5, PITX2
protein binding (GO:0005515) 0.462PRDM5, PITX2
regulatory region DNA binding (GO:0000975) 3.032PRDM5, PITX2
RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978) 3.882PRDM5, PITX2
nucleic acid binding transcription factor activity (GO:0001071) 2.652PRDM5, PITX2

NET-GE enrichment

Term New enriched termICP valueGenes
transcription regulatory region sequence-specific DNA binding (GO:0000976) -3.240.017PRDM5, PITX2
transcription factor binding (GO:0008134) -3.460.035PRDM5, PITX2
regulatory region nucleic acid binding (GO:0001067) -3.030.041PRDM5, PITX2
transcription regulatory region DNA binding (GO:0044212) -3.030.04PRDM5, PITX2
regulatory region DNA binding (GO:0000975) -3.030.041PRDM5, PITX2
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
negative regulation of metabolic process (GO:0009892) 1.932PRDM5, PITX2
regulation of primary metabolic process (GO:0080090) 1.082PRDM5, PITX2
regulation of metabolic process (GO:0019222) 1.022PRDM5, PITX2
negative regulation of cellular biosynthetic process (GO:0031327) 2.492PRDM5, PITX2
regulation of cellular biosynthetic process (GO:0031326) 1.382PRDM5, PITX2
negative regulation of cellular metabolic process (GO:0031324) 2.012PRDM5, PITX2
regulation of cellular metabolic process (GO:0031323) 1.072PRDM5, PITX2
nucleic acid metabolic process (GO:0090304) 1.462PRDM5, PITX2
cellular biosynthetic process (GO:0044249) 1.372PRDM5, PITX2
negative regulation of gene expression (GO:0010629) 2.482PRDM5, PITX2
nitrogen compound metabolic process (GO:0006807) 1.132PRDM5, PITX2
cellular macromolecule biosynthetic process (GO:0034645) 1.662PRDM5, PITX2
negative regulation of transcription, DNA-templated (GO:0045892) 2.752PRDM5, PITX2
organic cyclic compound biosynthetic process (GO:1901362) 1.662PRDM5, PITX2
regulation of biological process (GO:0050789) 0.452PRDM5, PITX2
single-organism process (GO:0044699) 0.482PRDM5, PITX2
RNA biosynthetic process (GO:0032774) 1.842PRDM5, PITX2
organic substance biosynthetic process (GO:1901576) 1.342PRDM5, PITX2
negative regulation of macromolecule metabolic process (GO:0010605) 2.012PRDM5, PITX2
negative regulation of biosynthetic process (GO:0009890) 2.472PRDM5, PITX2
cellular macromolecule metabolic process (GO:0044260) 0.932PRDM5, PITX2
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122PRDM5, PITX2
organic cyclic compound metabolic process (GO:1901360) 1.262PRDM5, PITX2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462PRDM5, PITX2
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62PRDM5, PITX2
organic substance metabolic process (GO:0071704) 0.632PRDM5, PITX2
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242PRDM5, PITX2
biological regulation (GO:0065007) 0.392PRDM5, PITX2
nucleic acid-templated transcription (GO:0097659) 1.912PRDM5, PITX2
negative regulation of biological process (GO:0048519) 1.332PRDM5, PITX2
regulation of gene expression (GO:0010468) 1.372PRDM5, PITX2
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472PRDM5, PITX2
heterocycle biosynthetic process (GO:0018130) 1.72PRDM5, PITX2
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552PRDM5, PITX2
nucleobase-containing compound metabolic process (GO:0006139) 1.352PRDM5, PITX2
regulation of macromolecule metabolic process (GO:0060255) 1.082PRDM5, PITX2
cellular aromatic compound metabolic process (GO:0006725) 1.32PRDM5, PITX2
cellular process (GO:0009987) 0.262PRDM5, PITX2
regulation of biosynthetic process (GO:0009889) 1.372PRDM5, PITX2
regulation of nucleic acid-templated transcription (GO:1903506) 1.552PRDM5, PITX2
regulation of cellular process (GO:0050794) 0.52PRDM5, PITX2
negative regulation of RNA biosynthetic process (GO:1902679) 2.72PRDM5, PITX2
biosynthetic process (GO:0009058) 1.322PRDM5, PITX2
macromolecule biosynthetic process (GO:0009059) 1.612PRDM5, PITX2
single-organism cellular process (GO:0044763) 0.652PRDM5, PITX2
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PRDM5, PITX2
metabolic process (GO:0008152) 0.582PRDM5, PITX2
regulation of RNA biosynthetic process (GO:2001141) 1.552PRDM5, PITX2
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722PRDM5, PITX2
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712PRDM5, PITX2
heterocycle metabolic process (GO:0046483) 1.312PRDM5, PITX2
RNA metabolic process (GO:0016070) 1.592PRDM5, PITX2
primary metabolic process (GO:0044238) 0.692PRDM5, PITX2
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592PRDM5, PITX2
negative regulation of RNA metabolic process (GO:0051253) 2.662PRDM5, PITX2
regulation of RNA metabolic process (GO:0051252) 1.522PRDM5, PITX2
cellular nitrogen compound metabolic process (GO:0034641) 1.222PRDM5, PITX2
cellular metabolic process (GO:0044237) 0.692PRDM5, PITX2
macromolecule metabolic process (GO:0043170) 0.832PRDM5, PITX2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432PRDM5, PITX2
regulation of transcription, DNA-templated (GO:0006355) 1.562PRDM5, PITX2
regulation of macromolecule biosynthetic process (GO:0010556) 1.432PRDM5, PITX2
transcription, DNA-templated (GO:0006351) 1.912PRDM5, PITX2
aromatic compound biosynthetic process (GO:0019438) 1.72PRDM5, PITX2
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532PRDM5, PITX2
negative regulation of cellular process (GO:0048523) 1.412PRDM5, PITX2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62PRDM5, PITX2
nucleus (GO:0005634) 1.072PRDM5, PITX2
cell part (GO:0044464) 0.112PRDM5, PITX2
intracellular organelle (GO:0043229) 0.512PRDM5, PITX2
intracellular part (GO:0044424) 0.282PRDM5, PITX2
membrane-bounded organelle (GO:0043227) 0.472PRDM5, PITX2
organelle (GO:0043226) 0.42PRDM5, PITX2