Gene table of GAN : gigaxonin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GAN	OMIM link	Number of associated genes	genes
PS256850	GIANT AXONAL NEUROPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	DCAF8, GAN

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Class I MHC mediated antigen processing & presentation	R-HSA-983169	4.65
Antigen processing: Ubiquitination & Proteasome degradation	R-HSA-983168	5.19
Immune System	R-HSA-168256	2.37
Adaptive Immune System	R-HSA-1280218	3.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein transferase activity	GO:0019787	3.69
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
ubiquitin-protein transferase activity	GO:0004842	3.73