giant axonal neuropathy 1 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	giant axonal neuropathy 1	go back to main search page
Accession:	DOID:0090068	browse the term
Definition:	An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. (DO)
Synonyms:	exact_synonym:	GAN1; giant axonal neuropathy 1 (GAN1); giant axonal neuropathy 1, autosomal recessive; giant axonal neuropathy, autosomal recessive
	primary_id:	OMIM:256850
	alt_id:	RDO:9002729
	xref:	ORDO:643
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (9) Mouse (9) Human (508) Chinchilla (9) Bonobo (9) Dog (9) Squirrel (9) Pig (9) Green Monkey (9) Naked Mole-rat (9) All
Genes (9)

giant axonal neuropathy 1

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM interactor

ClinVar Annotator: match by term: Giant axonal neuropathy 1

NCBI chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605

G

beta-carotene oxygenase 1

ClinVar Annotator: match by term: Giant axonal neuropathy 1

NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101

G

chromodomain Y-like 2

ClinVar Annotator: match by term: Giant axonal neuropathy 1

NCBI chr19:44,591,734...44,783,258
Ensembl chr19:44,597,459...44,783,022

G

centromere protein N

ClinVar Annotator: match by term: Giant axonal neuropathy 1

NCBI chr19:44,971,265...44,994,019
Ensembl chr19:44,968,308...44,994,012

G

C-x(9)-C motif containing 2

ClinVar Annotator: match by term: Giant axonal neuropathy 1

NCBI chr19:44,943,283...44,997,408
Ensembl chr19:44,943,285...44,971,983

G

gigaxonin

ClinVar Annotator: match by term: Giant axonal neuropathy 1

PMID:2153943 PMID:9536098 PMID:11053687 PMID:11062483 PMID:11971098 More...

NCBI chr19:45,207,864...45,258,831
Ensembl chr19:45,207,184...45,254,107

G

glycine cleavage system protein H

ClinVar Annotator: match by term: Giant axonal neuropathy 1

NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792

G

hypothetical protein LOC687399

ClinVar Annotator: match by term: Giant axonal neuropathy 1

NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683

G

polycystin 1 like 2

ClinVar Annotator: match by term: Giant axonal neuropathy 1

NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532

Term paths to the root

Path 1
Term	Annotations
disease	18032
Developmental Disease	12742
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	11402
genetic disease	10994
monogenic disease	8513
autosomal genetic disease	7518
autosomal recessive disease	4575
giant axonal neuropathy 1	9
Path 2
Term	Annotations
disease	18032
disease of anatomical entity	17412
nervous system disease	13079
central nervous system disease	11254
neurodegenerative disease	3870
Nervous System Heredodegenerative Disorders	2364
motor peripheral neuropathy	673
Giant Axonal Neuropathy	10
giant axonal neuropathy 1	9

paths to the root