Disease table of ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS OMIM ID: 107250

Gene-disease associations table

GeneAssociated with ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PITX3ClinVar, OMIMHGNC link10q24.322PS116200, 107250
FOXE3ClinVar, OMIM, HUMSAVARHGNC link1p332107250, 610256

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
PITX3YES2MIP, TH0
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 / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
sequence-specific DNA binding (GO:0043565) 2.792PITX3, FOXE3
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.652PITX3, FOXE3
organic cyclic compound binding (GO:0097159) 1.052PITX3, FOXE3
binding (GO:0005488) 0.182PITX3, FOXE3
nucleic acid binding (GO:0003676) 1.442PITX3, FOXE3
DNA binding (GO:0003677) 1.922PITX3, FOXE3
heterocyclic compound binding (GO:1901363) 1.062PITX3, FOXE3
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981) 3.292PITX3, FOXE3
nucleic acid binding transcription factor activity (GO:0001071) 2.652PITX3, FOXE3

NET-GE enrichment

Term New enriched termICP valueGenes
sequence-specific DNA binding (GO:0043565) -2.790.041PITX3, FOXE3
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
anatomical structure development (GO:0048856) 1.582PITX3, FOXE3
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432PITX3, FOXE3
regulation of primary metabolic process (GO:0080090) 1.082PITX3, FOXE3
regulation of metabolic process (GO:0019222) 1.022PITX3, FOXE3
regulation of cellular biosynthetic process (GO:0031326) 1.382PITX3, FOXE3
cell development (GO:0048468) 3.282PITX3, FOXE3
nucleic acid metabolic process (GO:0090304) 1.462PITX3, FOXE3
cellular biosynthetic process (GO:0044249) 1.372PITX3, FOXE3
cellular nitrogen compound metabolic process (GO:0034641) 1.222PITX3, FOXE3
nitrogen compound metabolic process (GO:0006807) 1.132PITX3, FOXE3
cellular macromolecule biosynthetic process (GO:0034645) 1.662PITX3, FOXE3
lens development in camera-type eye (GO:0002088) 6.092PITX3, FOXE3
anatomical structure morphogenesis (GO:0009653) 2.532PITX3, FOXE3
organic cyclic compound biosynthetic process (GO:1901362) 1.662PITX3, FOXE3
regulation of biological process (GO:0050789) 0.452PITX3, FOXE3
nucleic acid-templated transcription (GO:0097659) 1.912PITX3, FOXE3
RNA biosynthetic process (GO:0032774) 1.842PITX3, FOXE3
organic substance biosynthetic process (GO:1901576) 1.342PITX3, FOXE3
cellular macromolecule metabolic process (GO:0044260) 0.932PITX3, FOXE3
cellular developmental process (GO:0048869) 1.822PITX3, FOXE3
regulation of cellular metabolic process (GO:0031323) 1.072PITX3, FOXE3
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462PITX3, FOXE3
organic substance metabolic process (GO:0071704) 0.632PITX3, FOXE3
regulation of macromolecule biosynthetic process (GO:0010556) 1.432PITX3, FOXE3
biological regulation (GO:0065007) 0.392PITX3, FOXE3
organic cyclic compound metabolic process (GO:1901360) 1.262PITX3, FOXE3
transcription from RNA polymerase II promoter (GO:0006366) 3.382PITX3, FOXE3
positive regulation of biological process (GO:0048518) 1.22PITX3, FOXE3
regulation of gene expression (GO:0010468) 1.372PITX3, FOXE3
heterocycle biosynthetic process (GO:0018130) 1.72PITX3, FOXE3
developmental process (GO:0032502) 1.362PITX3, FOXE3
nucleobase-containing compound metabolic process (GO:0006139) 1.352PITX3, FOXE3
regulation of macromolecule metabolic process (GO:0060255) 1.082PITX3, FOXE3
cellular aromatic compound metabolic process (GO:0006725) 1.32PITX3, FOXE3
cellular process (GO:0009987) 0.262PITX3, FOXE3
regulation of biosynthetic process (GO:0009889) 1.372PITX3, FOXE3
regulation of nucleic acid-templated transcription (GO:1903506) 1.552PITX3, FOXE3
regulation of cellular process (GO:0050794) 0.52PITX3, FOXE3
single-organism developmental process (GO:0044767) 1.492PITX3, FOXE3
biosynthetic process (GO:0009058) 1.322PITX3, FOXE3
macromolecule biosynthetic process (GO:0009059) 1.612PITX3, FOXE3
single-organism cellular process (GO:0044763) 0.652PITX3, FOXE3
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PITX3, FOXE3
metabolic process (GO:0008152) 0.582PITX3, FOXE3
regulation of RNA biosynthetic process (GO:2001141) 1.552PITX3, FOXE3
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722PITX3, FOXE3
heterocycle metabolic process (GO:0046483) 1.312PITX3, FOXE3
RNA metabolic process (GO:0016070) 1.592PITX3, FOXE3
primary metabolic process (GO:0044238) 0.692PITX3, FOXE3
single-organism process (GO:0044699) 0.482PITX3, FOXE3
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592PITX3, FOXE3
regulation of RNA metabolic process (GO:0051252) 1.522PITX3, FOXE3
cellular metabolic process (GO:0044237) 0.692PITX3, FOXE3
macromolecule metabolic process (GO:0043170) 0.832PITX3, FOXE3
regulation of transcription, DNA-templated (GO:0006355) 1.562PITX3, FOXE3
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242PITX3, FOXE3
transcription, DNA-templated (GO:0006351) 1.912PITX3, FOXE3
aromatic compound biosynthetic process (GO:0019438) 1.72PITX3, FOXE3
positive regulation of cellular process (GO:0048522) 1.32PITX3, FOXE3
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) 0.62PITX3, FOXE3
nucleus (GO:0005634) 1.072PITX3, FOXE3
cell part (GO:0044464) 0.112PITX3, FOXE3
intracellular organelle (GO:0043229) 0.512PITX3, FOXE3
intracellular part (GO:0044424) 0.282PITX3, FOXE3
membrane-bounded organelle (GO:0043227) 0.472PITX3, FOXE3
organelle (GO:0043226) 0.42PITX3, FOXE3