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.
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Angptl2
angiopoietin-like 2
ISS
MouseDO
NCBI chr 3:36,914,876...36,944,715
Ensembl chr 3:36,914,745...36,945,876
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C2
complement C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3501473
NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740
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C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11359403
NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:57,300,427...57,348,752
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Ccr2
C-C motif chemokine receptor 2
ISO
protein:increased expression:limb muscle:
RGD
PMID:15772970
RGD:8661727
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
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Cd36
CD36 molecule
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:17572512
RGD:6893508
NCBI chr 4:18,209,088...18,302,142
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Cd40
CD40 molecule
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
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Cd40lg
CD40 ligand
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:expression:serum
RGD
PMID:22394569
RGD:9491763
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:9182923
RGD:8662437
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
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Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:8952317
RGD:8548628
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851
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Ifng
interferon gamma
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:20601655
RGD:4889547
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19035492
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19035492
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
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Il4
interleukin 4
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphisms:cds:p.G54D,G57E(human)
RGD
PMID:12485445
RGD:8693750
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
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Mmp1
matrix metallopeptidase 1
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:11157561
RGD:8547876
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964
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Mmp9
matrix metallopeptidase 9
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:11157561
RGD:8547876
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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Pms1
PMS1 homolog 1, mismatch repair system component
ISO
RGD
PMID:15856462
RGD:2324870
NCBI chr 9:55,721,393...55,832,225
Ensembl chr 9:55,745,374...55,832,221
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Robo1
roundabout guidance receptor 1
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:32213157
RGD:243048425
NCBI chr11:24,067,869...25,108,694
Ensembl chr11:24,067,878...25,108,694
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Slit2
slit guidance ligand 2
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:32213157
RGD:243048425
NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human)
RGD
PMID:22402141
RGD:8661693
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
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Thbd
thrombomodulin
ISO
RGD
PMID:17899683
RGD:5685006
NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19035492
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: :HLA-DQA1*0501; DNA:polymorphism (human)
RGD
PMID:18671865 PMID:8666549 PMID:15067086
RGD:5147790 , RGD:8547569 , RGD:5147796
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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C3
complement C3
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
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Cfb
complement factor B
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Behcet Syndrome;DNA:deletion:: (human)
RGD
PMID:22766250
RGD:7794848
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
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Lta
lymphotoxin alpha
ISO
associated with Sarcoidosis;DNA:polymorphism:intron
RGD
PMID:19225544
RGD:8548773
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533
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RT1-CE13
RT1 class I, locus CE13
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
NCBI chr20:3,314,491...3,322,815
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Tnf
tumor necrosis factor
susceptibility
ISO
associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human)
RGD
PMID:12198697
RGD:7364926
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Vdr
vitamin D receptor
susceptibility
ISO
associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human)
RGD
PMID:24880677
RGD:13217417
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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Psmb8
proteasome 20S subunit beta 8
ISO
ClinVar Annotator: match by term: Nakajo syndrome
ClinVar
PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 More...
NCBI chr20:4,654,068...4,657,049
Ensembl chr20:4,654,068...4,657,031
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3259592 PMID:6982619
NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:128,619,382...128,660,703
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Otulin
OTU deubiquitinase with linear linkage specificity
ISO
ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant | ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | ClinVar Annotator: match by term: OTULIN-related condition
ClinVar OMIM
PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 PMID:30804083 PMID:35170849 PMID:35587511 PMID:38630025 PMID:38652464 More...
NCBI chr 2:80,021,381...80,046,898
Ensembl chr 2:80,021,381...80,046,843
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Havcr2
hepatitis A virus cellular receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HAVCR2-related condition | ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30374066 PMID:30429576 PMID:30792187 PMID:32005988 PMID:34398459 PMID:34398505 PMID:34426522 PMID:36171125 PMID:36212426 PMID:37062931 More...
NCBI chr10:31,383,801...31,415,334
Ensembl chr10:31,383,925...31,413,872
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