Disease table of FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL OMIM ID: PS135700

Gene-disease associations table

GeneAssociated with FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PHOX2AClinVar, OMIM, HUMSAVARHGNC link11q13.41PS135700
KIF21AClinVar, OMIM, HUMSAVARHGNC link12q121PS135700
COL25A1ClinVar, OMIM, HUMSAVARHGNC link4q251PS135700
TUBB3ClinVar, OMIM, HUMSAVARHGNC link16q24.32PS614039, PS135700

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
PHOX2AYES2DBH, TLX20
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PHOX2AYES2PHOX2B, HAND20
TUBB3YES3REST, SOX11, SOX20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PHOX2AKIF21ANo1NTRK1
PHOX2ATUBB3No2SP1, NTRK1
KIF21ATUBB3No3NTRK1, SNW1, ELAVL1

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 (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184TUBB3, KIF21A, COL25A1, PHOX2A
carbohydrate derivative binding (GO:0097367) 2.033TUBB3, KIF21A, COL25A1
organic cyclic compound binding (GO:0097159) 1.053TUBB3, KIF21A, PHOX2A
heterocyclic compound binding (GO:1901363) 1.063TUBB3, KIF21A, PHOX2A
hydrolase activity (GO:0016787) 1.92TUBB3, KIF21A
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032TUBB3, KIF21A
peptide binding (GO:0042277) 4.222TUBB3, COL25A1
pyrophosphatase activity (GO:0016462) 3.042TUBB3, KIF21A
purine ribonucleoside triphosphate binding (GO:0035639) 2.222TUBB3, KIF21A
amide binding (GO:0033218) 4.142TUBB3, COL25A1
nucleoside-triphosphatase activity (GO:0017111) 3.092TUBB3, KIF21A
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032TUBB3, KIF21A
nucleotide binding (GO:0000166) 1.962TUBB3, KIF21A
small molecule binding (GO:0036094) 1.892TUBB3, KIF21A
catalytic activity (GO:0003824) 1.052TUBB3, KIF21A
ribonucleotide binding (GO:0032553) 2.192TUBB3, KIF21A
purine nucleoside binding (GO:0001883) 2.222TUBB3, KIF21A
protein binding (GO:0005515) 0.462TUBB3, KIF21A
ribonucleoside binding (GO:0032549) 2.222TUBB3, KIF21A
purine ribonucleotide binding (GO:0032555) 2.22TUBB3, KIF21A
purine nucleotide binding (GO:0017076) 2.192TUBB3, KIF21A
purine ribonucleoside binding (GO:0032550) 2.222TUBB3, KIF21A
nucleoside phosphate binding (GO:1901265) 1.962TUBB3, KIF21A
nucleoside binding (GO:0001882) 2.212TUBB3, KIF21A
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.264TUBB3, KIF21A, COL25A1, PHOX2A
single-organism cellular process (GO:0044763) 0.654TUBB3, COL25A1, KIF21A, PHOX2A
single-organism process (GO:0044699) 0.484TUBB3, KIF21A, COL25A1, PHOX2A
cellular developmental process (GO:0048869) 1.823TUBB3, COL25A1, PHOX2A
developmental process (GO:0032502) 1.362COL25A1, PHOX2A
microtubule-based process (GO:0007017) 3.542TUBB3, KIF21A
neuron differentiation (GO:0030182) 4.172TUBB3, PHOX2A
cell differentiation (GO:0030154) 2.142TUBB3, PHOX2A
cellular component organization (GO:0016043) 1.242TUBB3, COL25A1
movement of cell or subcellular component (GO:0006928) 2.612TUBB3, KIF21A
single-organism developmental process (GO:0044767) 1.492COL25A1, PHOX2A
organic substance metabolic process (GO:0071704) 0.632COL25A1, PHOX2A
metabolic process (GO:0008152) 0.582COL25A1, PHOX2A
macromolecule metabolic process (GO:0043170) 0.832COL25A1, PHOX2A
cellular component organization or biogenesis (GO:0071840) 1.222TUBB3, COL25A1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular organelle part (GO:0044446) 0.814TUBB3, COL25A1, KIF21A, PHOX2A
intracellular part (GO:0044424) 0.284TUBB3, KIF21A, COL25A1, PHOX2A
cell part (GO:0044464) 0.114TUBB3, COL25A1, KIF21A, PHOX2A
organelle part (GO:0044422) 0.794TUBB3, KIF21A, COL25A1, PHOX2A
intracellular organelle (GO:0043229) 0.513TUBB3, KIF21A, PHOX2A
macromolecular complex (GO:0032991) 1.353KIF21A, COL25A1, PHOX2A
organelle (GO:0043226) 0.43TUBB3, KIF21A, PHOX2A
cytoplasm (GO:0005737) 1.012TUBB3, KIF21A
cytoskeleton (GO:0005856) 2.552TUBB3, KIF21A
supramolecular fiber (GO:0099512) 3.312TUBB3, KIF21A
polymeric cytoskeletal fiber (GO:0099513) 3.312TUBB3, KIF21A
intracellular non-membrane-bounded organelle (GO:0043232) 1.762TUBB3, KIF21A
microtubule (GO:0005874) 3.812TUBB3, KIF21A
nucleus (GO:0005634) 1.072TUBB3, PHOX2A
non-membrane-bounded organelle (GO:0043228) 1.762TUBB3, KIF21A
cytoskeletal part (GO:0044430) 2.492TUBB3, KIF21A
protein complex (GO:0043234) 1.512KIF21A, COL25A1
membrane-bounded organelle (GO:0043227) 0.472TUBB3, PHOX2A
extracellular region part (GO:0044421) 1.572TUBB3, COL25A1
intracellular membrane-bounded organelle (GO:0043231) 0.62TUBB3, PHOX2A