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: Nervous System Paraneoplastic Syndromes
Accession: DOID:9003906
browse the term
Definition: Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue. (Intern Med 1996 Dec;35(12):925-9)
Synonyms: exact_synonym: Paraneoplastic Autonomic Dysfunction; Paraneoplastic Autonomic Dysfunctions; Paraneoplastic Encephalomyelitides; Paraneoplastic Encephalomyelitis; Paraneoplastic Neurologic Syndrome; Paraneoplastic Neurologic Syndromes
primary_id: MESH:D020361
For additional species annotation, visit the
Alliance of Genome Resources .
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Nefh
neurofilament heavy
treatment
ISO
RGD
PMID:31313506
RGD:27226816
NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
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Nefl
neurofilament light
treatment
ISO
RGD
PMID:31313506
RGD:27226816
NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISS
MouseDO
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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Cacna1b
calcium voltage-gated channel subunit alpha1 B
ISO
RGD
PMID:16289869
RGD:1626312
NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
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Chrm1
cholinergic receptor, muscarinic 1
ISO
RGD
PMID:17764462
RGD:5133415
NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
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Aqp4
aquaporin 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD
PMID:18509235 PMID:24070676 , PMID:16087714 , PMID:22271321 , PMID:18420727 , PMID:23116879 , PMID:23890015 , PMID:23995423 , PMID:20047900
RGD:5148024 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Cd59
CD59 molecule
severity
IMP
RGD
PMID:28212662
RGD:13792592
NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
severity
IMP
RGD
PMID:28212662
RGD:13792592
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
G
Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nefh
neurofilament heavy
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 , PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD
PMID:21748712 , PMID:27049564
RGD:5147590 , RGD:11530523
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1318289
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 , PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Vps37a
VPS37A subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:28492532 PMID:29473047
NCBI chr16:54,860,811...54,899,410
Ensembl chr16:54,860,868...54,899,347
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