RGD DISEASE ONTOLOGY - ANNOTATIONS
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
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 .
G
Atmin
ATM interactor
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
ClinVar
PMID:28492532
NCBI chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605
G
Bco1
beta-carotene oxygenase 1
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
ClinVar
PMID:28492532
NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
G
Cdyl2
chromodomain Y-like 2
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
ClinVar
PMID:28492532
NCBI chr19:44,591,734...44,783,258
Ensembl chr19:44,597,459...44,783,022
G
Cenpn
centromere protein N
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
ClinVar
PMID:28492532
NCBI chr19:44,971,265...44,994,019
Ensembl chr19:44,968,308...44,994,012
G
Cmc2
C-x(9)-C motif containing 2
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
ClinVar
PMID:28492532
NCBI chr19:44,943,283...44,997,408
Ensembl chr19:44,943,285...44,971,983
G
Gan
gigaxonin
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
OMIM ClinVar
PMID:2153943 PMID:9536098 PMID:11053687 PMID:11062483 PMID:11971098 PMID:12655563 PMID:12668605 PMID:14718689 PMID:15897506 PMID:16199547 PMID:17331252 PMID:17576681 PMID:17578852 PMID:17587580 PMID:19231187 PMID:19295179 PMID:20949505 PMID:21356581 PMID:23248352 PMID:23316953 PMID:23332420 PMID:23890932 PMID:24464710 PMID:24758703 PMID:25025039 PMID:25040701 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29876741 PMID:30373780 More...
NCBI chr19:45,207,864...45,258,831
Ensembl chr19:45,207,184...45,254,107
G
Gcsh
glycine cleavage system protein H
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
ClinVar
PMID:28492532
NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
G
LOC687399
hypothetical protein LOC687399
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
ClinVar
PMID:28492532
NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683
G
Pkd1l2
polycystin 1 like 2
ISO
ClinVar Annotator: match by term: Giant axonal neuropathy 1
ClinVar
PMID:28492532
NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532
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