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: myelitis
Accession: DOID:322
browse the term
Definition: A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. (DO)
Synonyms: exact_synonym: Infectious Myelitis; Inflammatory Myelopathy; Myelitides; Spinal Cord Inflammation; Spinal Cord Inflammations; inflammatory myelopathies; subacute necrotising myelitis
primary_id: MESH:D009187
xref: EFO:1001472 ; GARD:7130 ; NCI:C26832
For additional species annotation, visit the
Alliance of Genome Resources .
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Myelitis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:polymorphism: :HLA-DPB1*0201 (human)
RGD
PMID:22884298
RGD:150429795
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Aqp4
aquaporin 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
severity
IMP
RGD
PMID:28212662
RGD:13792592
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Cd59b
CD59b molecule
severity
IMP
RGD
PMID:28212662
RGD:13792592
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Il21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nefh
neurofilament heavy chain
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Pvr
PVR cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3020560 PMID:28446605
NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715
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Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Vps37a
VPS37A subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
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C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Ifnl1
interferon, lambda 1
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Zeb1
zinc finger E-box binding homeobox 1
ISS
OMIM:159580
MouseDO
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:14636287
RGD:9491594
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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