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

Gene-disease associations table

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Gene	Associated with SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
C10orf2	ClinVar, HUMSAVAR	HGNC link	10q24.31	4	PS157640, 607459, PS603041, PS233400
POLG	ClinVar, OMIM, HUMSAVAR	HGNC link	15q26.1	4	PS157640, 607459, PS603041, 256000
PRICKLE2	ClinVar, HUMSAVAR	HGNC link	3p14.1	1	607459

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Download the disease annotation in CSV format

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

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Gene1	Gene2	Direct interaction	More information
C10orf2	POLG	yes, complex	In 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]

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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

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GO	IC	Number of genes with the same GO	Genes
DNA binding (GO:0003677)	1.92	2	C10orf2, POLG
hydrolase activity (GO:0016787)	1.9	2	C10orf2, POLG
nucleic acid binding (GO:0003676)	1.44	2	C10orf2, POLG
ion binding (GO:0043167)	1.36	2	PRICKLE2, C10orf2
heterocyclic compound binding (GO:1901363)	1.06	2	C10orf2, POLG
organic cyclic compound binding (GO:0097159)	1.05	2	C10orf2, POLG
catalytic activity (GO:0003824)	1.05	2	C10orf2, POLG
binding (GO:0005488)	0.18	3	PRICKLE2, C10orf2, POLG

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
protease binding (GO:0002020)	NEW	5.08	0.001	C10orf2, POLG
nuclease activity (GO:0004518)	NEW	4.33	0.03	C10orf2, POLG

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
DNA replication (GO:0006260)	4.51	2	C10orf2, POLG
DNA metabolic process (GO:0006259)	3.09	2	C10orf2, POLG
cellular macromolecule biosynthetic process (GO:0034645)	1.66	2	C10orf2, POLG
macromolecule biosynthetic process (GO:0009059)	1.61	2	C10orf2, POLG
nucleic acid metabolic process (GO:0090304)	1.46	2	C10orf2, POLG
cellular biosynthetic process (GO:0044249)	1.37	2	C10orf2, POLG
nucleobase-containing compound metabolic process (GO:0006139)	1.35	2	C10orf2, POLG
organic substance biosynthetic process (GO:1901576)	1.34	2	C10orf2, POLG
biosynthetic process (GO:0009058)	1.32	2	C10orf2, POLG
heterocycle metabolic process (GO:0046483)	1.31	2	C10orf2, POLG

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
mitochondrial DNA replication (GO:0006264)	NEW	7.53	0.0	C10orf2, POLG
mitochondrial DNA metabolic process (GO:0032042)	NEW	7.09	0.0	C10orf2, POLG
DNA-dependent DNA replication (GO:0006261)	NEW	6.29	0.003	C10orf2, POLG
DNA replication (GO:0006260)	-	4.51	0.008	C10orf2, POLG

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
intracellular organelle part (GO:0044446)	0.81	2	PRICKLE2, POLG
organelle part (GO:0044422)	0.79	2	PRICKLE2, POLG
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	PRICKLE2, POLG
intracellular organelle (GO:0043229)	0.51	2	PRICKLE2, POLG
membrane-bounded organelle (GO:0043227)	0.47	2	PRICKLE2, POLG
organelle (GO:0043226)	0.4	2	PRICKLE2, POLG
intracellular part (GO:0044424)	0.28	2	PRICKLE2, POLG
cell part (GO:0044464)	0.11	2	PRICKLE2, POLG

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
mitochondrial nucleoid (GO:0042645)	NEW	6.02	0.0	C10orf2, POLG
nucleoid (GO:0009295)	NEW	5.97	0.0	C10orf2, POLG

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