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: spastic ataxia 2
Accession: DOID:0050941
browse the term
Definition: A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. (DO)
Synonyms: exact_synonym: SPAX2; spastic ataxia 2, autosomal recessive
primary_id: MESH:C566969
alt_id: OMIM:611302
xref: NCI:C177252
G
C10h17orf107
similar to human chromosome 17 open reading frame 107
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
G
Camta2
calmodulin binding transcription activator 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558
G
Chrne
cholinergic receptor nicotinic epsilon subunit
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530
G
Eno3
enolase 3
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921
G
Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
G
Inca1
inhibitor of CDK, cyclin A1 interacting protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,401,989...55,414,364
Ensembl chr10:55,401,982...55,414,114
G
Kif1c
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Spastic ataxia 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 PMID:24482476 PMID:24808017 PMID:25741868 PMID:26633545 PMID:27666373 PMID:28492532 PMID:28687974 PMID:28832565 PMID:29482223 PMID:30067756 PMID:32501971 PMID:34270679 PMID:35961316 More...
NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
G
Pfn1
profilin 1
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
G
Rnf167
ring finger protein 167
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
G
Slc25a11
solute carrier family 25 member 11
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410
G
Spag7
sperm associated antigen 7
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all