Disease table of GIANT AXONAL NEUROPATHY OMIM ID: PS256850

Gene-disease associations table

Gene	Associated with GIANT AXONAL NEUROPATHY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
GAN	ClinVar, OMIM, HUMSAVAR	HGNC link	16q23.2	1	PS256850
DCAF8	ClinVar, OMIM, HUMSAVAR	HGNC link	1q23.2	1	PS256850

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
GAN	DCAF8	No	3	PRMT5, WDR77, PRMT1

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)

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	2	GAN, DCAF8
protein binding (GO:0005515)	0.46	2	GAN, DCAF8

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

GO	IC	Number of genes with the same GO	Genes
primary metabolic process (GO:0044238)	0.69	2	GAN, DCAF8
cellular macromolecule metabolic process (GO:0044260)	0.93	2	GAN, DCAF8
protein modification by small protein conjugation (GO:0032446)	3.1	2	GAN, DCAF8
protein metabolic process (GO:0019538)	1.45	2	GAN, DCAF8
cellular process (GO:0009987)	0.26	2	GAN, DCAF8
protein modification by small protein conjugation or removal (GO:0070647)	2.95	2	GAN, DCAF8
cellular metabolic process (GO:0044237)	0.69	2	GAN, DCAF8
macromolecule metabolic process (GO:0043170)	0.83	2	GAN, DCAF8
organic substance metabolic process (GO:0071704)	0.63	2	GAN, DCAF8
macromolecule modification (GO:0043412)	1.73	2	GAN, DCAF8
protein modification process (GO:0036211)	1.79	2	GAN, DCAF8
cellular protein modification process (GO:0006464)	1.79	2	GAN, DCAF8
metabolic process (GO:0008152)	0.58	2	GAN, DCAF8
protein ubiquitination (GO:0016567)	3.28	2	GAN, DCAF8
cellular protein metabolic process (GO:0044267)	1.63	2	GAN, DCAF8

Term	New enriched term	IC	P value	Genes
protein modification by small protein conjugation (GO:0032446)	-	3.1	0.033	GAN, DCAF8
protein modification by small protein conjugation or removal (GO:0070647)	-	2.95	0.043	GAN, DCAF8
protein ubiquitination (GO:0016567)	-	3.28	0.018	GAN, DCAF8

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

GO	IC	Number of genes with the same GO	Genes
cytoplasm (GO:0005737)	1.01	2	GAN, DCAF8
protein complex (GO:0043234)	1.51	2	GAN, DCAF8
macromolecular complex (GO:0032991)	1.35	2	GAN, DCAF8
catalytic complex (GO:1902494)	2.9	2	GAN, DCAF8
cell part (GO:0044464)	0.11	2	GAN, DCAF8
ubiquitin ligase complex (GO:0000151)	4.23	2	GAN, DCAF8
intracellular organelle (GO:0043229)	0.51	2	GAN, DCAF8
transferase complex (GO:1990234)	3.32	2	GAN, DCAF8
intracellular part (GO:0044424)	0.28	2	GAN, DCAF8
cullin-RING ubiquitin ligase complex (GO:0031461)	4.79	2	GAN, DCAF8
organelle (GO:0043226)	0.4	2	GAN, DCAF8

Term	New enriched term	IC	P value	Genes
catalytic complex (GO:1902494)	-	2.9	0.039	GAN, DCAF8
ubiquitin ligase complex (GO:0000151)	-	4.23	0.004	GAN, DCAF8
transferase complex (GO:1990234)	-	3.32	0.017	GAN, DCAF8
cullin-RING ubiquitin ligase complex (GO:0031461)	-	4.79	0.001	GAN, DCAF8