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: autoimmune disease of peripheral nervous system
Accession: DOID:0060033
browse the term
Definition: An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. (DO)
Synonyms: primary_id: RDO:9002712
For additional species annotation, visit the
Alliance of Genome Resources .
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Nefh
neurofilament heavy
severity
ISO
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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Ccl28
C-C motif chemokine ligand 28
ISO
RGD
PMID:19050296
RGD:4890012
NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:sciatic nerve (mouse)
RGD
PMID:19050296
RGD:4890012
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:sural nerve
RGD
PMID:10408538
RGD:13204856
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Chat
choline O-acetyltransferase
susceptibility
ISO
DNA:frameshift mutation, missense mutations (human) ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar Annotator: match by OMIM:254210
ClinVar OMIM
PMID:7616604 PMID:11172068 PMID:12756141 PMID:15381704 PMID:15701560 PMID:18414213 PMID:19520274 PMID:19900826 PMID:21786365 PMID:21948486 PMID:24033266 PMID:25741868 PMID:26080897 PMID:26467025 PMID:26789281 PMID:28492532 PMID:28497657 PMID:29189923 , PMID:11172068
RGD:1600831
NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
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Slc18a3
solute carrier family 18 member A3
ISO
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar
NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
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Arpc5
actin related protein 2/3 complex, subunit 5
treatment
IEP
RGD
PMID:17997938
RGD:11049469
NCBI chr13:70,174,970...70,183,879
Ensembl chr13:70,174,936...70,183,879
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C3
complement C3
ISO IEP
RGD
PMID:17962462 , PMID:147324
RGD:7401263 , RGD:11040804
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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C6
complement C6
susceptibility
IAGP
RGD
PMID:17034580
RGD:1600670
NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
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Cd40lg
CD40 ligand
treatment
IMP
RGD
PMID:11359850
RGD:8547800
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cfb
complement factor B
treatment
IMP
RGD
PMID:25355917
RGD:11041161
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
treatment
ISO
RGD
PMID:10606626
RGD:704386
NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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Ctsl
cathepsin L
IEP
mRNA:increased expression:quadriceps (rat)
RGD
PMID:16365386
RGD:2315588
NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
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Cxcl10
C-X-C motif chemokine ligand 10
IMP IEP
RGD
PMID:19232748 , PMID:15843529
RGD:2311364 , RGD:1598501
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Cxcl9
C-X-C motif chemokine ligand 9
IEP
RGD
PMID:15843529
RGD:1598501
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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Cxcr3
C-X-C motif chemokine receptor 3
IEP IMP
RGD
PMID:15843529 , PMID:19232748
RGD:1598501 , RGD:2311364
NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
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Il15
interleukin 15
IEP
protein:increased expression:skeletal muscle
RGD
PMID:11585642
RGD:1626617
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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Il23r
interleukin 23 receptor
IEP
mRNA:increased expression:lymph node
RGD
PMID:21193288
RGD:5108250
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Il2ra
interleukin 2 receptor subunit alpha
IDA
RGD
PMID:18250419
RGD:2325986
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
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Il4r
interleukin 4 receptor
IEP
protein:increased expression:skeletal muscle
RGD
PMID:19395316
RGD:4889981
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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Musk
muscle associated receptor tyrosine kinase
IDA
RGD
PMID:17081697
RGD:2317084
NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
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Myog
myogenin
IEP
RGD
PMID:1312030
RGD:9686077
NCBI chr13:51,126,459...51,129,048
Ensembl chr13:51,126,459...51,129,048
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Rapsn
receptor-associated protein of the synapse
IEP
protein:decreased expression:neuromuscular junction
RGD
PMID:19344765
RGD:8549750
NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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Aire
autoimmune regulator
ISS
OMIM:139393
MouseDO
NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:18343991
RGD:5685658
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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Ccl2
C-C motif chemokine ligand 2
disease_progression
ISO
protein:increased expression:plasma (human)
RGD
PMID:12507779
RGD:8549645
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cd86
CD86 molecule
ISS
OMIM:139393
MouseDO
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Cst3
cystatin C
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:11134381
RGD:5686395
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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Ctsb
cathepsin B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:11134381
RGD:5686395
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Hcrt
hypocretin neuropeptide precursor
ISO
RGD
PMID:15623725
RGD:1600925
NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
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Pmp22
peripheral myelin protein 22
ISO
ClinVar Annotator: match by term: Guillain-Barre syndrome, familial
OMIM ClinVar
PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532
NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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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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Ache
acetylcholinesterase
ISO
RGD
PMID:17986328
RGD:5509842
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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Adrb2
adrenoceptor beta 2
ISO
DNA:polymorphisms:cds:p.R16G,Q27E(human)
RGD
PMID:10606977
RGD:8548470
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Cfb
complement factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6605118
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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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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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:15843529
RGD:1598501
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15843529
RGD:1598501
NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
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Esr2
estrogen receptor 2
ISO
RGD
PMID:15661863
RGD:5509039
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:peripheral blood, T lymphocyte (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:15169653 , PMID:23043710
RGD:8662430
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Il2rb
interleukin 2 receptor subunit beta
ISO
DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human)
RGD
PMID:20728947
RGD:5684377
NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
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Musk
muscle associated receptor tyrosine kinase
treatment severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (human)
CTD
PMID:22981737 PMID:27119269 , PMID:22218276 , PMID:26025053
RGD:38599166 , RGD:38599165
NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4323972
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA: snp: cds: 1858T
RGD
PMID:19693092
RGD:6484722
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human) DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human)
RGD
PMID:19561379 , PMID:10593018
RGD:5147612 , RGD:5147855
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human) DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)
RGD
PMID:19561379 , PMID:10593018
RGD:5147612 , RGD:5147855
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 onset
ISO
DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human) DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human)
RGD
PMID:21924912 , PMID:15003812
RGD:7365051 , RGD:7365079
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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
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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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