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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ACHE
acetylcholinesterase (Yt blood group)
ISO
RGD
PMID:17986328
RGD:5509842
NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
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ADRB2
adrenoceptor beta 2
ISO
DNA:polymorphisms:cds:p.R16G,Q27E(human)
RGD
PMID:10606977
RGD:8548470
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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CFB
complement factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6605118
NCBI chr 6:31,606,716...31,612,782
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CHRM1
cholinergic receptor muscarinic 1
ISO
RGD
PMID:17764462
RGD:5133415
NCBI chr11:58,261,476...58,274,685
Ensembl chr11:61,614,818...61,616,200
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CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:15843529
RGD:1598501
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15843529
RGD:1598501
NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756
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CYP3A5
cytochrome P450 family 3 subfamily A member 5
ISO
ClinVar Annotator: match by term: refractory myasthenia gravis
ClinVar
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926
NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322
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ESR2
estrogen receptor 2
ISO
RGD
PMID:15661863
RGD:5509039
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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FAS
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood, T lymphocyte (human)
CTD RGD
PMID:15169653 PMID:23043710
RGD:8662430
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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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 chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038
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LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
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:10593018 PMID:19561379
RGD:5147612 RGD:5147855
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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LOC100982859
class I histocompatibility antigen, Gogo-B*0101 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6402089 PMID:6605118
NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
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LOC100995226
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17956852
NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
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MUSK
muscle associated receptor tyrosine kinase
treatment severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (human)
CTD RGD
PMID:22218276 PMID:22981737 PMID:26025053 PMID:27119269
RGD:38599165 RGD:38599166
NCBI chr 9:81,814,766...81,947,341
Ensembl chr 9:109,980,748...110,107,480
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4323972
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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PTPN22
protein tyrosine phosphatase non-receptor type 22
ISO
DNA: snp: cds: 1858T
RGD
PMID:19693092
RGD:6484722
NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
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ZSCAN25
zinc finger and SCAN domain containing 25
ISO
ClinVar Annotator: match by term: refractory myasthenia gravis
ClinVar
PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926
NCBI chr 7:91,589,706...91,776,856
Ensembl chr 7:105,094,741...105,107,657
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CHAT
choline O-acetyltransferase
susceptibility
ISO
ClinVar Annotator: match by term: Familial infantile myasthenia DNA:frameshift mutation, missense mutations
OMIM ClinVar RGD
PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 PMID:12756141 PMID:15381704 PMID:15701560 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19520274 PMID:19900826 PMID:21786365 PMID:21948486 PMID:22678886 PMID:23292760 PMID:24033266 PMID:25741868 PMID:26080897 PMID:26467025 PMID:26789281 PMID:28492532 PMID:28497657 PMID:28991257 PMID:29054425 PMID:29189923 PMID:32368696 PMID:33820833 PMID:34431804 PMID:34740919 PMID:36308527 More...
RGD:1600831
NCBI chr10:44,574,925...44,629,618
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SLC18A3
solute carrier family 18 member A3
ISO
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar
PMID:21948486 PMID:25741868 PMID:28492532
NCBI chr10:44,630,006...44,632,419
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VHL
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
ClinVar
PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 PMID:8730290 PMID:8956040 PMID:9452032 PMID:9829911 PMID:9829912 PMID:10567493 PMID:12000816 PMID:12114495 PMID:14722919 PMID:14767570 PMID:15300849 PMID:18446368 PMID:19270817 PMID:20120764 PMID:21362373 PMID:23842656 PMID:24206762 PMID:24301059 PMID:24707167 PMID:25157968 PMID:25720320 PMID:25741868 PMID:25867206 PMID:27527340 PMID:27617348 PMID:28492532 More...
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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ARPC5
actin related protein 2/3 complex subunit 5
treatment
ISO
RGD
PMID:17997938
RGD:11049469
NCBI chr 1:159,156,229...159,165,898
Ensembl chr 1:163,311,111...163,323,554
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C3
complement C3
ISO
RGD
PMID:147324 PMID:17962462
RGD:11040804 RGD:7401263
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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C6
complement C6
susceptibility
ISO
RGD
PMID:17034580
RGD:1600670
NCBI chr 5:69,174,411...69,245,801
Ensembl chr 5:74,216,244...74,288,588
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CD40LG
CD40 ligand
treatment
ISO
RGD
PMID:11359850
RGD:8547800
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CFB
complement factor B
treatment
ISO
RGD
PMID:25355917
RGD:11041161
NCBI chr 6:31,606,716...31,612,782
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CHRNA1
cholinergic receptor nicotinic alpha 1 subunit
treatment
ISO
RGD
PMID:10606626
RGD:704386
NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763
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CTSL
cathepsin L
ISO
mRNA:increased expression:quadriceps (rat)
RGD
PMID:16365386
RGD:2315588
NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303
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CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:15843529 PMID:19232748
RGD:1598501 RGD:2311364
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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CXCL9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15843529
RGD:1598501
NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15843529 PMID:19232748
RGD:1598501 RGD:2311364
NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756
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IL15
interleukin 15
ISO
protein:increased expression:skeletal muscle
RGD
PMID:11585642
RGD:1626617
NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622
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IL23R
interleukin 23 receptor
ISO
mRNA:increased expression:lymph node
RGD
PMID:21193288
RGD:5108250
NCBI chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815
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IL2RA
interleukin 2 receptor subunit alpha
ISO
RGD
PMID:18250419
RGD:2325986
NCBI chr10:6,053,549...6,103,863
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IL4R
interleukin 4 receptor
ISO
protein:increased expression:skeletal muscle
RGD
PMID:19395316
RGD:4889981
Ensembl chr16:27,642,702...27,737,445
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MUSK
muscle associated receptor tyrosine kinase
ISO
RGD
PMID:17081697
RGD:2317084
NCBI chr 9:81,814,766...81,947,341
Ensembl chr 9:109,980,748...110,107,480
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MYOG
myogenin
ISO
RGD
PMID:1312030
RGD:9686077
NCBI chr 1:178,684,933...178,687,971
Ensembl chr 1:182,979,700...182,982,611
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RAPSN
receptor associated protein of the synapse
ISO
protein:decreased expression:neuromuscular junction
RGD
PMID:19344765
RGD:8549750
NCBI chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667
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