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: nonprogressive cerebellar ataxia with mental retardation
Accession: DOID:0050998
browse the term
Definition: An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. (DO)
Synonyms: exact_synonym: CAMTA1-RELATED CONDITION; CANPMR; CECBA; CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES; NONPROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY
primary_id: OMIM:614756
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Aadacl3
arylacetamide deacetylase-like 3
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:156,242,182...156,252,215
Ensembl chr 5:156,243,415...156,252,205
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Aadacl4
arylacetamide deacetylase-like 4
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:156,514,021...156,524,567
Ensembl chr 5:156,513,753...156,524,695
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Camta1
calmodulin binding transcription activator 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
OMIM CTD ClinVar
PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28708303 PMID:29389947 PMID:30838254 PMID:31957018 PMID:32157189 PMID:33131045 PMID:33677721 More...
NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
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Cfap107
cilia and flagella associated protein 107
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:156,212,385...156,231,481
Ensembl chr 5:156,212,385...156,231,481
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Dhrs3
dehydrogenase/reductase 3
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:156,747,939...156,782,420
Ensembl chr 5:156,747,962...156,782,417
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Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Miip
migration and invasion inhibitory protein
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:158,292,510...158,299,533
Ensembl chr 5:158,292,511...158,299,694
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Nid1
nidogen 1
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267
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Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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Pou4f1
POU class 4 homeobox 1
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Prdm16
PR/SET domain 16
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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Slc9a1
solute carrier family 9 member A1
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Smyd3
SET and MYND domain containing 3
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr13:90,709,263...91,266,209
Ensembl chr13:90,709,270...91,266,253
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnfrsf8
TNF receptor superfamily member 8
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Vps13d
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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