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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:systemic lupus erythematosus
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Accession:DOID:9074 term browser browse the term
Definition:A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. (DO)
Synonyms:exact_synonym: Libman Sacks disease;   Lupus Erythematosus Disseminatus;   SLE;   SLE - systemic lupus erythematosus;   SLEH1;   disseminated lupus erythematosus;   systemic lupus erythematosus, hemolytic anemia-related
 narrow_synonym: EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA;   excess LMW-DNA
 related_synonym: SLEB1;   SLEB10;   SLEB11;   SLEB12;   SLEB13;   SLEB14;   SLEB15;   SLEB2;   SLEB3;   SLEB4;   SLEB5;   SLEB6;   SLEB7;   SLEB8;   SLEB9;   SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH;   SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10;   Systemic Lupus Erythematosus, Association With 2;   systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1;   systemic lupus erythematosus, resistance to, 1;   systemic lupus erythematosus, susceptibility to;   systemic lupus erythematosus, susceptibility to, 1;   systemic lupus erythematosus, susceptibility to, 10;   systemic lupus erythematosus, susceptibility to, 11;   systemic lupus erythematosus, susceptibility to, 12;   systemic lupus erythematosus, susceptibility to, 13;   systemic lupus erythematosus, susceptibility to, 14;   systemic lupus erythematosus, susceptibility to, 15;   systemic lupus erythematosus, susceptibility to, 2;   systemic lupus erythematosus, susceptibility to, 3;   systemic lupus erythematosus, susceptibility to, 4;   systemic lupus erythematosus, susceptibility to, 5;   systemic lupus erythematosus, susceptibility to, 6;   systemic lupus erythematosus, susceptibility to, 7;   systemic lupus erythematosus, susceptibility to, 8;   systemic lupus erythematosus, susceptibility to, 9
 primary_id: MESH:D008180
 alt_id: OMIM:152700;   OMIM:300809;   OMIM:601744;   OMIM:605218;   OMIM:605480;   OMIM:607279;   OMIM:608437;   OMIM:609903;   OMIM:609939;   OMIM:610065;   OMIM:610066;   OMIM:610927;   OMIM:612251;   OMIM:612253;   OMIM:612254;   OMIM:612378;   OMIM:613145
 xref: GARD:10253;   ICD10CM:M32.9;   ICD9CM:710.0;   NCI:C3201;   ORDO:536
For additional species annotation, visit the Alliance of Genome Resources.


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systemic lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19109165 RGD:5686827 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) RGD PMID:22513366 RGD:6767309 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:21900645 RGD:6892717 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Anxa3 annexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:14,371,921...14,426,503
Ensembl chr14:14,364,008...14,426,437
JBrowse link
G Apoa1 apolipoprotein A1 treatment
severity
ISO RGD PMID:20482780, PMID:20131231 RGD:7241863, RGD:7241864 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Atg5 autophagy related 5 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Atg7 autophagy related 7 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to ClinVar PMID:16845398, PMID:17293595, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:21270825, PMID:21937424, PMID:23881107, PMID:24033266, PMID:24224166, PMID:25138095, PMID:25604658, PMID:25741868, PMID:25906927, PMID:26182405, PMID:26467025, PMID:27391121, PMID:28089741, PMID:28492532, PMID:29239743 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs:introns:
ClinVar Annotator: match by term: Association with systemic lupus erythematosus
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18204447, PMID:18204447 RGD:9684976 NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G Becn1 beclin 1 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO DNA:snp:promoter:rs13277113 (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19838193, PMID:25741868, PMID:28492532, PMID:19180478 RGD:2316189 NCBI chr15:46,555,552...46,593,778
Ensembl chr15:46,555,188...46,593,653
JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8840296 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G C2 complement C2 ISO RGD PMID:6409476 RGD:7421516 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7510492 RGD:11040772 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G C4a complement C4A ISO RGD PMID:17503323 RGD:5688260 NCBI chr20:2,651,599...2,678,183
Ensembl chr20:2,651,599...2,678,141
JBrowse link
G C4b complement C4B (Chido blood group) ISO
ISS
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO PMID:17503323 RGD:5688260 NCBI chr20:4,302,344...4,316,752
Ensembl chr20:4,302,344...4,316,715
JBrowse link
G C5ar1 complement C5a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Cast calpastatin ISO RGD PMID:12367559 RGD:5683623 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27497885 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility
no_association
ISO DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371, PMID:11844145 RGD:11528535, RGD:11528536 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 disease_progression ISO protein:increased expression:serum RGD PMID:16924394 RGD:5683895 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 severity ISO RGD PMID:21180278 RGD:6893428 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr18:86,299,392...86,394,772
Ensembl chr18:86,299,463...86,394,765
JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP: :rs4810485 (human)
DNA:SNP: :rs3765456 (human)
RGD PMID:21914625, PMID:23256180 RGD:5490522, RGD:7248721 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:28793932, PMID:20726330, PMID:9036998 RGD:7248426, RGD:11352248 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd46 CD46 molecule severity ISO mRNA:increased expression:leukocyte (human) RGD PMID:22247341 RGD:6483457 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:20653937 RGD:6902898 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H susceptibility ISO RGD PMID:21637784 RGD:5684554 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO RGD PMID:24836587 RGD:9587742 NCBI chr 9:11,000,869...11,027,631
Ensembl chr 9:11,001,129...11,027,506
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator resistance
no_association
ISO DNA:polymorphism:intron:g.485A>G (human)
DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006) (human)
DNA:polymorphism:promoter:rs3087456 (human)
RGD PMID:15897313, PMID:17693604, PMID:17711409 RGD:5491190, RGD:5491204, RGD:5491203 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Clu clusterin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:15304052, PMID:10090169 RGD:8696021 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cr2 complement C3d receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9
OMIM
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
JBrowse link
G Crp C-reactive protein disease_progression
treatment
no_association
ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8261665, PMID:17718048, PMID:17014014, PMID:20039408, PMID:8261665 RGD:6909144, RGD:6907402, RGD:6909146, RGD:6909144 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:15383612 RGD:7257578 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Csk C-terminal Src kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042117 NCBI chr 8:62,405,714...62,424,707
Ensembl chr 8:62,405,715...62,424,303
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 disease_progression ISO ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:polymorphisms:exons:Japanese(human)
ClinVar
OMIM
PMID:8817351, PMID:9259273, PMID:9398726, PMID:10189842, PMID:10475192, PMID:11098935, PMID:11158025, PMID:15138458, PMID:15301861, PMID:15688186, PMID:24033266, PMID:25741868, PMID:26884280, PMID:27577878, PMID:28492532, PMID:19966213, PMID:18185908 RGD:7204684, RGD:7204691 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 severity ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:14596426 RGD:7257684 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Cybb cytochrome b-245 beta chain ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphism:3' utr:3801T>C (rs4646903)
DNA:SNP: :4887C>A (human)
DNA:SNP: :p.I462V (human)
RGD PMID:19561157, PMID:14611903, PMID:10599336 RGD:5147672, RGD:1581249, RGD:5147680 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Def6 DEF6 guanine nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr20:7,788,120...7,809,011
Ensembl chr20:7,788,084...7,809,560
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to OMIM
ClinVar
PMID:11479590, PMID:15333586 NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620
JBrowse link
G Dnase1l3 deoxyribonuclease 1-like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019780 NCBI chr15:18,710,492...18,736,476
Ensembl chr15:18,710,492...18,736,473
JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar NCBI chr19:26,022,855...26,025,523
Ensembl chr19:26,022,849...26,025,532
JBrowse link
G Dnmt1 DNA methyltransferase 1 no_association ISO mRNA:decreased expression:T cell: RGD PMID:21595664, PMID:18194272 RGD:9588656, RGD:9588670 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Ep300 E1A binding protein p300 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:23151030 RGD:11041604 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:SNP: :rs4986938 (human)
mRNA:decreased expression:leukocyte,mononuclear
DNA:repeats:intron:
mRNA:increased expression: :
RGD PMID:20961965, PMID:17336162, PMID:17874259, PMID:20305046, PMID:20627037 RGD:5508738, RGD:5508844, RGD:5508843, RGD:5508817, RGD:5508813 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
JBrowse link
G F2 coagulation factor II susceptibility ISO DNA:SNP: :19911A>G (rs3136516) (human) RGD PMID:21239755, PMID:20807656 RGD:5147772, RGD:5147776 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO
ISS
DNA:snps:promoter:g.-1377G>A, g.-670A>G (human)
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
protein:increased expression:T lymphocyte:
protein:increased expression:serum (human)
MouseDO PMID:23053964, PMID:7531628, PMID:9182923 RGD:8662433, RGD:11049450, RGD:8662437 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.H131R (human)
protein:decreased expression:blood, monocyte
DNA:SNP (human)
CTD
OMIM
PMID:18204446, PMID:21719445, PMID:8254199, PMID:11561111, PMID:14747618, PMID:17092257, PMID:17557887, PMID:18204446 RGD:5147916, RGD:5147984, RGD:5147979, RGD:5147976, RGD:5147973, RGD:5147972, RGD:5147926 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb susceptibility
no_association
severity
treatment
ISO DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human)
DNA:SNP:intron:11045G>T (rs12117530) (human)
DNA:snp:promoter:g.-386G>C (rs3219018) (human)
ClinVar
OMIM
PMID:12115230, PMID:15459183, PMID:15895258, PMID:16115811, PMID:16170323, PMID:17435165, PMID:20385827, PMID:15153543, PMID:26084639, PMID:26084639, PMID:20530521, PMID:18156625, PMID:19502269, PMID:15895258 RGD:1547879, RGD:11056171, RGD:11056171, RGD:9588603, RGD:9588566, RGD:7240540, RGD:1547880 NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO protein:decreased expression:NK cell
DNA:CNVs
DNA:SNPs:exon:rs403016,rs428888(human)
RGD PMID:21370226, PMID:25154742, PMID:18625651 RGD:5508389, RGD:11344974, RGD:5508444 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 4:97,782,512...97,784,814
Ensembl chr 4:97,782,512...97,784,842
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20226777 RGD:5490989 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP: :rs1043618 (human) RGD PMID:20498198 RGD:5147600 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:SNPs: :rs2075800, rs2227956 (human) RGD PMID:20498198 RGD:5147600 NCBI chr20:4,879,998...4,965,191
Ensembl chr20:4,959,294...4,964,963
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195, PMID:24686847 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:leukocyte,mononuclear
protein:increased expression:renal glomerulus
RGD PMID:22759859, PMID:29925830 RGD:6893373, RGD:14974252 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195, PMID:20728533, PMID:12486603 RGD:1580478 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195, PMID:26808113 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human) RGD PMID:15470475 RGD:7401214 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:plasma (human)
DNA:polymorphism:exon:g.14709C>T rs315952 (human)
RGD PMID:20805419, PMID:17176440 RGD:6906963, RGD:6907356 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6421522 RGD:8662948 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17911475 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il21r interleukin 21 receptor ISO CTD Direct Evidence: therapeutic
DNA:polymorphism: : rs3093301 (human)
CTD PMID:17911475, PMID:20424514, PMID:19164519, PMID:19644854 RGD:6892931, RGD:6892937, RGD:6892933 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:T cell: RGD PMID:21110900 RGD:8549601 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23054011 RGD:7241039 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 9:94,745,220...94,850,778
Ensembl chr 9:94,745,217...94,850,771
JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28003376 NCBI chr 7:135,803,723...135,831,006
Ensembl chr 7:135,803,698...135,832,652
JBrowse link
G Irf5 interferon regulatory factor 5 susceptibility ISO ClinVar Annotator: match by OMIM:612251
ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15657875, PMID:16642019, PMID:17189288, PMID:17393452, PMID:17476532, PMID:17599733, PMID:17881657, PMID:18063667, PMID:18204446, PMID:19838193 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446, PMID:18204448 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Jak1 Janus kinase 1 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21880982 RGD:6483022 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Jazf1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 4:82,834,181...83,141,430
Ensembl chr 4:82,836,260...83,137,527
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr19:26,092,972...26,094,756
Ensembl chr19:26,092,974...26,094,756
JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G Lbr lamin B receptor ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:100,431,390...100,450,209 JBrowse link
G Ldlr low density lipoprotein receptor ISO mRNA:decreased expression:leukocyte RGD PMID:19811272 RGD:5490253 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 5:16,526,058...16,642,648
Ensembl chr 5:16,526,058...16,642,648
JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 9:112,293,388...112,451,677
Ensembl chr 9:112,293,388...112,451,677
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:exon
DNA:SNP,haplotype:cds:p.G54D,G57E(human)
RGD PMID:21510992, PMID:11561111 RGD:6903266, RGD:5147979 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir196a microRNA 196a EXP CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr 7:144,584,235...144,584,344
Ensembl chr 7:144,584,235...144,584,344
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21693493 RGD:6483529 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:transition:cds:m.9055A>G (human) RGD PMID:18708297 RGD:5490259 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mta2 metastasis associated 1 family, member 2 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 1:225,140,863...225,149,584
Ensembl chr 1:225,140,863...225,149,583
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO protein:increased expression:monocyte
DNA:mutation:cds:p.G908R (rs2066845)(human)
RGD PMID:21886831, PMID:16642031 RGD:5508746, RGD:13204710 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA:increased expression:bone marrow macrophage (mouse) RGD PMID:22011580 RGD:5508848 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15304052, PMID:15304052 RGD:6480537 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:17182544 RGD:11074797 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pcnx3 pecanex 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:221,019,091...221,041,959
Ensembl chr 1:221,019,500...221,041,401
JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO DNA:polymorphism: : 7,146 G>A (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:17228327, PMID:19116915 RGD:7248674, RGD:7248679 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:serum RGD PMID:19276301 RGD:6483612 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:16365454 RGD:6482698 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Pld4 phospholipase D family, member 4 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 6:137,323,713...137,331,231
Ensembl chr 6:137,323,713...137,331,231
JBrowse link
G Polb DNA polymerase beta ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr16:74,237,001...74,260,272
Ensembl chr16:74,237,001...74,260,271
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO RGD PMID:21746932 RGD:5686291 NCBI chr18:36,985,709...37,421,383
Ensembl chr18:36,985,714...37,245,809
JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr20:49,464,921...49,556,623
Ensembl chr20:49,464,919...49,556,518
JBrowse link
G Prf1 perforin 1 severity ISO RGD PMID:21906646 RGD:6482798 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14870917 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17761345 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility ISO DNA:missense mutation:cds:p.R620W (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:c.1858C>T (human)
DNA:snp:introns:c.87+1492C>T, c.828+186G>A (rs1217414, rs3765598) (human)
DNA:missense mutation:cds:p.R263Q (human)
ClinVar
CTD
OMIM
PMID:15004560, PMID:15208781, PMID:15273934, PMID:15580548, PMID:15719322, PMID:15744042, PMID:16273109, PMID:16339849, PMID:16470599, PMID:17170052, PMID:17436241, PMID:17554300, PMID:17878369, PMID:18204446, PMID:18301444, PMID:18978792, PMID:19265110, PMID:19430480, PMID:19898480, PMID:21190368, PMID:21841778, PMID:28492532, PMID:17092257, PMID:23076337, PMID:23950893, PMID:18981062 RGD:5147973, RGD:11534992, RGD:11533999, RGD:11532755 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
JBrowse link
G Pxk PX domain containing serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr15:18,548,209...18,616,617
Ensembl chr15:18,548,212...18,616,589
JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 3:108,984,029...109,044,420
Ensembl chr 3:108,984,029...109,044,420
JBrowse link
G Rasgrp3 RAS guanyl releasing protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 6:21,072,634...21,171,619
Ensembl chr 6:21,072,634...21,135,880
JBrowse link
G Rassf5 Ras association domain family member 5 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:47,956,754...48,022,333
Ensembl chr13:47,956,790...48,022,333
JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:78,723,028...78,794,663
Ensembl chr13:78,722,763...78,789,266
JBrowse link
G Retn resistin ISO RGD PMID:21885493 RGD:7207148 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G Ro60 Ro60, Y RNA binding protein ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:60,546,892...60,567,882
Ensembl chr13:60,546,912...60,567,882
JBrowse link
G Rpl12 ribosomal protein L12 ISO RGD PMID:11161982 RGD:11035232 NCBI chr 3:12,009,578...12,011,952
Ensembl chr 3:12,009,578...12,011,666
JBrowse link
G Rpl14 ribosomal protein L14 ISO RGD PMID:12051391 RGD:11036103 NCBI chr 8:129,240,528...129,243,400
Ensembl chr 8:129,240,528...129,243,402
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:11436868 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms: :multiple (human) RGD PMID:21658414, PMID:18552411 RGD:5147560, RGD:5147620 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms: :multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*1501 (human)
CTD PMID:11436868, PMID:21658414, PMID:20191587 RGD:5147560, RGD:5147581 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Rubcn rubicon autophagy regulator ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr11:71,150,506...71,199,254
Ensembl chr11:71,151,132...71,197,035
JBrowse link
G Rxra retinoid X receptor alpha ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression:serum RGD PMID:19833760 RGD:4143493 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Siglec5 sialic acid binding Ig-like lectin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:98,562,351...98,570,992
Ensembl chr 1:98,562,346...98,570,949
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr: (human) RGD PMID:21233146 RGD:5684928 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Slc15a4 solute carrier family 15 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr12:32,753,824...32,773,277
Ensembl chr12:32,753,824...32,773,277
JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO RGD PMID:10940910, PMID:22454191 RGD:10448935, RGD:10448939 NCBI chr 1:101,367,470...101,388,153
Ensembl chr 1:101,367,471...101,388,129
JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO RGD PMID:8647956 RGD:10766446 NCBI chr20:7,409,401...7,427,581
Ensembl chr20:7,409,401...7,427,581
JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide severity IDA mouse model RGD PMID:12571858 RGD:10755713 NCBI chr18:1,866,066...1,876,613
Ensembl chr18:1,866,080...1,876,613
JBrowse link
G Snrpd2 small nuclear ribonucleoprotein D2 polypeptide ISO RGD PMID:11823543 RGD:10766471 NCBI chr 1:80,057,140...80,059,990
Ensembl chr 1:80,056,755...80,059,996
JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide ISO RGD PMID:17640359 RGD:10755704 NCBI chr20:14,080,562...14,095,644
Ensembl chr20:14,080,565...14,095,181
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:SNP, haplotype: :1183C>T (human) RGD PMID:14611903 RGD:1581249 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
onset
treatment
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612253
DNA:SNPs:intron:multiple (human)
DNA:SNPs:introns:c.274-23582A>C, c.274-2691G>A, c.466-1307G>A (rs7574865, rs11889341, rs10168266) (human)
DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)
DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)
DNA:SNP:intron:c.274-29069G>C (rs7582694) (human)
OMIM
CTD
ClinVar
PMID:17804842, PMID:18204446, PMID:19109131, PMID:19838193, PMID:19838195, PMID:22798666, PMID:18516230, PMID:18803832, PMID:20479942, PMID:23049788, PMID:16920939, PMID:22729903 RGD:7207867, RGD:7207881, RGD:7207879, RGD:7207878, RGD:7207877, RGD:7207874, RGD:7207869 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Syngr1 synaptogyrin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 7:121,311,008...121,334,437
Ensembl chr 7:121,311,024...121,334,437
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member no_association ISO RGD PMID:9014588 RGD:6482277 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association
ISO RGD PMID:12634240, PMID:9014588 RGD:6482273, RGD:6482277 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tcf7 transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr10:37,616,033...37,646,027
Ensembl chr10:37,617,279...37,645,802
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:11709459 RGD:11060258 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:18484695 RGD:5684995 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Timd4 T-cell immunoglobulin and mucin domain containing 4 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr10:31,880,822...31,917,215 JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:19841185 RGD:7241088 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr5 toll-like receptor 5 susceptibility ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14623910, PMID:16027372, PMID:23447684 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tlr7 toll-like receptor 7 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr9 toll-like receptor 9 susceptibility
severity
ISO DNA:snp:exon:c.1635C>T rs352140 (human)
mRNA:increased expression:B lymphocyte (mouse)
RGD PMID:19130296, PMID:21592581, PMID:16973389 RGD:5130767, RGD:7246894, RGD:7245988 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:polymorphisms, haplotype:promoter:multiple (human)
ClinVar PMID:8056188, PMID:9818939, PMID:10450718, PMID:11261930, PMID:11506397, PMID:11826025, PMID:11896460, PMID:12485196, PMID:12746914, PMID:14681301, PMID:14718719, PMID:16418737, PMID:16865291, PMID:15642275, PMID:11607787 RGD:7245570, RGD:7245571 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165918, PMID:19165919, PMID:19838193, PMID:21336280 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO protein:increased expression:serum RGD PMID:8393677 RGD:7245539 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B severity
no_association
ISO protein:increased expression:serum
DNA:missense mutation:cds:p.M196R (human)
RGD PMID:8393677, PMID:11607787 RGD:7245539, RGD:7245571 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059267, PMID:19838193 NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193, PMID:19838195 NCBI chr10:40,255,776...40,303,092
Ensembl chr10:40,255,776...40,296,470
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16845398, PMID:17293595, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:21270825, PMID:21937424, PMID:23881107, PMID:24033266, PMID:24224166, PMID:25138095, PMID:25604658, PMID:25741868, PMID:25906927, PMID:26182405, PMID:26467025, PMID:27391121, PMID:28089741, PMID:28492532, PMID:29239743 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
G Uhrf1bp1 UHRF1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr20:7,431,235...7,475,515
Ensembl chr20:7,431,355...7,471,900
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO RGD PMID:18693542 RGD:7241211 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:160,391,108...160,399,931
Ensembl chr 3:160,391,106...160,399,931
JBrowse link
C1q Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: C1q deficiency OMIM
ClinVar
PMID:7594474, PMID:8840296, PMID:9225968, PMID:21654842, PMID:28492532 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1q deficiency
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:2894352, PMID:17513176, PMID:21654842, PMID:24160257, PMID:25741868, PMID:28492532 NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1q deficiency
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:7029321, PMID:7900940, PMID:8630118, PMID:21654842, PMID:24157463 NCBI chr 5:155,255,013...155,258,631
Ensembl chr 5:155,255,005...155,258,392
JBrowse link
lupus nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) RGD PMID:22513366 RGD:6767309 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G C3 complement C3 ISO protein:decreased expression:serum RGD PMID:21888025 RGD:7175544 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity
susceptibility
ISO protein:increased expression:urine (human)
DNA:snp:promoter:g.-2518A>G (human)
RGD PMID:8558841, PMID:15188361 RGD:8549732, RGD:11528534 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:18187931 RGD:7241814 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:23799000, PMID:18566369, PMID:19265127 RGD:7248418, RGD:7248429, RGD:7248425 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:serum RGD PMID:20726330, PMID:11751940, PMID:12632425, PMID:13130474, PMID:15693003 RGD:7248426, RGD:7248714, RGD:7248710, RGD:7248600, RGD:7248439 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO RGD PMID:10623824, PMID:3183062, PMID:21893562 RGD:7242736, RGD:7242763, RGD:7242755 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H ISO RGD PMID:22171659 RGD:5684551 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Clu clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO associated with Graft vs Host Disease
mRNA, protein:increased expression:kidney cortex
RGD PMID:21354048, PMID:7700025, PMID:7723234 RGD:5688301, RGD:5688333, RGD:5688332 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Crp C-reactive protein no_association ISO RGD PMID:18852001, PMID:20039408, PMID:15692982 RGD:6907400, RGD:6909146, RGD:6909145 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:21885670, PMID:17659436 RGD:7257567, RGD:7257589 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:21354048 RGD:5688301 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:missense mutation:cds:p.H131R (human)
ClinVar Annotator: match by term: Lupus nephritis, susceptibility to
ClinVar PMID:8636449, PMID:9843982, PMID:10675363, PMID:15367919, PMID:18347005, PMID:19915573, PMID:19965803, PMID:21109570, PMID:22992668, PMID:24033266, PMID:15004265 RGD:5147975 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:15681388 RGD:7240529 NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum,urine
protein:increased processing:kidney
RGD PMID:22764573, PMID:29925830 RGD:6893369, RGD:14974252 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:21641991, PMID:20410215 RGD:7175315, RGD:7175344 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist resistance ISO associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) RGD PMID:20538031 RGD:6907068 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itgam integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir125a microRNA 125a IEP RNA:decreased expression:kidney RGD PMID:30972208 RGD:26884458 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpo myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr11:71,222,602...71,236,223
Ensembl chr11:71,222,600...71,236,223
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:21509671, PMID:17880936 RGD:7174713, RGD:7174734 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chr 1:222,451,674...222,459,952
Ensembl chr 1:222,451,674...222,459,952
JBrowse link
G Pdcd1 programmed cell death 1 onset ISO DNA:polymorphism: :
DNA:polymorphism:intron:6867 C>T (human)
RGD PMID:15934088, PMID:21041733, PMID:15352422 RGD:7248675, RGD:7248678, RGD:7248676 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E treatment IDA mouse model RGD PMID:15494537 RGD:10760401 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tlr7 toll-like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr9 toll-like receptor 9 severity
treatment
no_association
ISO mRNA, protein:increased expression:kidney (mouse)
associated with Graft vs Host Disease
protein:increased expression:renal glomerulus (human)
associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian)
DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)
RGD PMID:23467932, PMID:17469139, PMID:21127878, PMID:19578108, PMID:22787315, PMID:20497632 RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO associated with Lupus Erythematosus, Systemic;protein:increased expression:urine RGD PMID:21691937 RGD:7205483 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO RGD PMID:19201910, PMID:10906156 RGD:7245569, RGD:7245572 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:22846145, PMID:22674120 RGD:7245541, RGD:7245544 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
Lupus Vasculitis, Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc fragment of IgG receptor IIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
Systemic Lupus Erythematosus 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l3 deoxyribonuclease 1-like 3 ISO ClinVar Annotator: match by OMIM:614420 OMIM
ClinVar
PMID:22019780 NCBI chr15:18,710,492...18,736,476
Ensembl chr15:18,710,492...18,736,473
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Immune & Inflammatory Diseases 3513
        Inflammation 2172
          systemic lupus erythematosus 200
            C1q Deficiency 3
            Lupus Vasculitis, Central Nervous System 3
            Neonatal Systemic Lupus Erythematosus 0
            Systemic Lupus Erythematosus 16 1
            Systemic Lupus Erythematosus with Nephritis 0
            lupus nephritis 47
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Immune & Inflammatory Diseases 3513
        immune system disease 2927
          primary immunodeficiency disease 2344
            autoimmune disease 1663
              autoimmune disease of musculoskeletal system 935
                lupus erythematosus 204
                  systemic lupus erythematosus 200
                    C1q Deficiency 3
                    Lupus Vasculitis, Central Nervous System 3
                    Neonatal Systemic Lupus Erythematosus 0
                    Systemic Lupus Erythematosus 16 1
                    Systemic Lupus Erythematosus with Nephritis 0
                    lupus nephritis 47
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.