Disease table of SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS OMIM ID: 607459

Gene-disease associations table

GeneAssociated with SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
POLGClinVar, OMIM, HUMSAVARHGNC link15q26.14PS157640, 607459, PS603041, 256000
PRICKLE2ClinVar, HUMSAVARHGNC link3p14.11607459
C10orf2ClinVar, HUMSAVARHGNC link10q24.314PS157640, 607459, PS603041, PS233400

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Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
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
Gene1Gene2Direct interactionMore information
C10orf2POLGyes, complexIn vitro, C10orf2 forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. [UniProt]
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
binding (GO:0005488) 0.183PRICKLE2, C10orf2, POLG
hydrolase activity (GO:0016787) 1.92C10orf2, POLG
organic cyclic compound binding (GO:0097159) 1.052C10orf2, POLG
ion binding (GO:0043167) 1.362PRICKLE2, C10orf2
catalytic activity (GO:0003824) 1.052C10orf2, POLG
nucleic acid binding (GO:0003676) 1.442C10orf2, POLG
DNA binding (GO:0003677) 1.922C10orf2, POLG
heterocyclic compound binding (GO:1901363) 1.062C10orf2, POLG

NET-GE enrichment

Term New enriched termICP valueGenes
nuclease activity (GO:0004518) NEW4.330.03C10orf2, POLG
protease binding (GO:0002020) NEW5.080.001C10orf2, POLG
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
nucleic acid metabolic process (GO:0090304) 1.462C10orf2, POLG
cellular biosynthetic process (GO:0044249) 1.372C10orf2, POLG
cellular nitrogen compound metabolic process (GO:0034641) 1.222C10orf2, POLG
nitrogen compound metabolic process (GO:0006807) 1.132C10orf2, POLG
cellular macromolecule biosynthetic process (GO:0034645) 1.662C10orf2, POLG
organic cyclic compound metabolic process (GO:1901360) 1.262C10orf2, POLG
organic substance biosynthetic process (GO:1901576) 1.342C10orf2, POLG
cellular macromolecule metabolic process (GO:0044260) 0.932C10orf2, POLG
organic substance metabolic process (GO:0071704) 0.632C10orf2, POLG
DNA replication (GO:0006260) 4.512C10orf2, POLG
biological regulation (GO:0065007) 0.392PRICKLE2, POLG
nucleobase-containing compound metabolic process (GO:0006139) 1.352C10orf2, POLG
cellular process (GO:0009987) 0.262C10orf2, POLG
cellular aromatic compound metabolic process (GO:0006725) 1.32C10orf2, POLG
biosynthetic process (GO:0009058) 1.322C10orf2, POLG
macromolecule biosynthetic process (GO:0009059) 1.612C10orf2, POLG
metabolic process (GO:0008152) 0.582C10orf2, POLG
heterocycle metabolic process (GO:0046483) 1.312C10orf2, POLG
primary metabolic process (GO:0044238) 0.692C10orf2, POLG
cellular metabolic process (GO:0044237) 0.692C10orf2, POLG
macromolecule metabolic process (GO:0043170) 0.832C10orf2, POLG
DNA metabolic process (GO:0006259) 3.092C10orf2, POLG

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial DNA metabolic process (GO:0032042) NEW7.090.0C10orf2, POLG
mitochondrial DNA replication (GO:0006264) NEW7.530.0C10orf2, POLG
DNA replication (GO:0006260) -4.510.008C10orf2, POLG
DNA-dependent DNA replication (GO:0006261) NEW6.290.003C10orf2, POLG
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62PRICKLE2, POLG
cell part (GO:0044464) 0.112PRICKLE2, POLG
intracellular organelle part (GO:0044446) 0.812PRICKLE2, POLG
intracellular organelle (GO:0043229) 0.512PRICKLE2, POLG
intracellular part (GO:0044424) 0.282PRICKLE2, POLG
membrane-bounded organelle (GO:0043227) 0.472PRICKLE2, POLG
organelle (GO:0043226) 0.42PRICKLE2, POLG
organelle part (GO:0044422) 0.792PRICKLE2, POLG

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial nucleoid (GO:0042645) NEW6.020.0C10orf2, POLG
nucleoid (GO:0009295) NEW5.970.0C10orf2, POLG