relapsing-remitting multiple sclerosis - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	relapsing-remitting multiple sclerosis	go back to main search page
Accession:	DOID:2378	browse the term
Definition:	A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. (DO)
Synonyms:	exact_synonym:	Acute Relapsing Multiple Sclerosis; RRMS; Relapsing-remitting MS
	primary_id:	MESH:D020529
	xref:	EFO:0003929; NCI:C165675
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (23)

relapsing-remitting multiple sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atypical chemokine receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,131,702...90,143,446
Ensembl chr 1:90,131,702...90,144,473

G

ADAM metallopeptidase with thrombospondin type 1 motif 14

DNA:SNP:intron: C>T (human)

RGD

NCBI chr10:61,032,886...61,109,447
Ensembl chr10:61,032,891...61,109,217

G

apolipoprotein A-IV

onset

protein:decreased expression:cerebrospinal fluid (human)

RGD

NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

PMID:15096402 PMID:34624384

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

CD36 molecule

RGD

NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799

G

CD80 antigen

protein:increased expression:blood, B cell

RGD

NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697

G

chondroitin sulfate proteoglycan 4

RGD

NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154

G

cathepsin S

mRNA, protein:increased expression:blood, leukocyte

RGD

NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714

G

Fas cell surface death receptor

susceptibility

DNA:polymorphism:intron:735T>C(human)

RGD

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

granulin

disease_progression

protein:increased expression:cerebrospinal fluids

RGD

NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874

G

hepatitis A virus cellular receptor 1

RGD

NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405

G

heterogeneous nuclear ribonucleoprotein A1

ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis

NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119

G

heat shock protein 8

protein: increased expression

RGD

NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383

G

kinesin light chain 1

susceptibility

DNA:SNP:intron:56836G>C (rs8702) (human)

RGD

NCBI chr12:111,724,869...111,774,278
Ensembl chr12:111,725,283...111,774,278

G

matrix metallopeptidase 19

mRNA:increased expression:mononuclear cell

RGD

NCBI chr10:128,626,779...128,636,696
Ensembl chr10:128,626,779...128,636,693

G

matrix metallopeptidase 9

treatment

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

neurofilament, heavy polypeptide

treatment

RGD

NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064

G

neurofilament, light polypeptide

associated with relapse;protein:increased expression:serum (human)
protein:increased expression:CSF (human)

RGD

PMID:30761586 PMID:33658322

RGD:127285025, RGD:127285027

NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544

G

nucleotide-binding oligomerization domain containing 2

disease_progression

DNA:SNPs: :rs3135499,rs2066842(human)

RGD

NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102

G

noggin

mRNA,protein:decreased expression:mononuclear cell"

RGD

NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158

G

S100 protein, beta polypeptide, neural

protein:increased expression:brain, cerebrospinal fluid

RGD

NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

disease_progression

protein:increased expression:plasma:

RGD

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

tissue inhibitor of metalloproteinase 1

treatment

RGD

NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974

Term paths to the root

Path 1
Term	Annotations
disease	18300
disease of anatomical entity	15630
nervous system disease	13500
central nervous system disease	12085
autoimmune disease of central nervous system	309
Demyelinating Autoimmune Diseases, CNS	302
multiple sclerosis	187
relapsing-remitting multiple sclerosis	23
Path 2
Term	Annotations
disease	18300
disease of anatomical entity	15630
Immune & Inflammatory Diseases	5169
immune system disease	4461
primary immunodeficiency disease	3853
autoimmune disease	2064
autoimmune disease of the nervous system	576
autoimmune disease of central nervous system	309
Demyelinating Autoimmune Diseases, CNS	302
multiple sclerosis	187
relapsing-remitting multiple sclerosis	23

paths to the root