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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
 broad_synonym: CR2-related condition;   DNASE1-related condition;   PDCD1-related condition;   STAT4-related condition
 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, 2;   Systemic Lupus Erythematosus, Association With 2;   systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1;   systemic lupus erythematosus, association with susceptibility to, 10;   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
 alt_id: MIM:152700;   MIM:300809;   MIM:601744;   MIM:605218;   MIM:605480;   MIM:607279;   MIM:608437;   MIM:609903;   MIM:609939;   MIM:610065;   MIM:610066;   MIM:610927;   MIM:612251;   MIM:612253;   MIM:612254;   MIM:612378;   MIM:613145
 xref: GARD:10253;   ICD10CM:M32.9;   ICD9CM:710.0;   MESH:D008180;   MONDO:0007915;   NCI:C3201;   ORDO:536


show annotations for term's descendants           Sort by:
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 chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		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 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19109165 RGD:5686827 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		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 chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:21900645 RGD:6892717 NCBI chr  X:116,914,320...116,918,504
Ensembl chr  X:116,913,656...116,918,745 		JBrowse link
G Anxa3 annexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:13,031,675...13,085,678
Ensembl chr14:13,023,762...13,085,849 		JBrowse link
G Apoa1 apolipoprotein A1 treatment
severity 		ISO RGD PMID:20482780 PMID:20131231 RGD:7241863, RGD:7241864 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		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 chr20:49,380,835...49,471,826
Ensembl chr20:49,380,813...49,471,821 		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 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944 		JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs:introns:
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:18204447 PMID:25741868 PMID:18204447 RGD:9684976 NCBI chr 2:227,203,998...227,474,008
Ensembl chr 2:227,203,998...227,474,037 		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 chr10:86,731,649...86,747,002
Ensembl chr10:86,731,650...86,747,002 		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
RGD		 PMID:18204098 PMID:19667185 PMID:19838193 PMID:24023612 PMID:25741868 More... RGD:2316189 NCBI chr15:41,802,701...41,841,004
Ensembl chr15:41,802,994...41,840,982 		JBrowse link
G Bltp3a bridge-like lipid transfer protein family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr20:5,912,033...5,956,404
Ensembl chr20:5,912,106...5,956,403 		JBrowse link
G C1qa complement C1q A chain ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 		CTD
MouseDO		 PMID:8840296 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
G C2 complement C2 ISO RGD PMID:6409476 RGD:7421516 NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7510492 RGD:11040772 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323 		JBrowse link
G C4a complement C4A ISO RGD PMID:17503323 RGD:5688260 NCBI chr20:4,010,306...4,024,707 JBrowse link
G C4b complement C4B 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
RGD		 PMID:17503323 RGD:5688260 NCBI chr20:4,201,979...4,216,292
Ensembl chr20:4,201,961...4,216,289 		JBrowse link
G C5ar1 complement C5a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 1:86,077,309...86,088,001 JBrowse link
G Ca1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:88,495,475...88,593,454 		JBrowse link
G Car2 carbonic anhydrase 2 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:88,462,872...88,478,064 		JBrowse link
G Cast calpastatin ISO RGD PMID:12367559 RGD:5683623 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27497885 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		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 chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 disease_progression ISO protein:increased expression:serum RGD PMID:16924394 RGD:5683895 NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,950,289...68,965,722 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 severity ISO RGD PMID:21180278 RGD:6893428 NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:132,463,788...132,511,593 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594 		JBrowse link
G Cd226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr18:84,723,330...84,819,836
Ensembl chr18:84,725,242...84,819,835 		JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461 		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 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd40lg CD40 ligand ISO
ISS 		protein:increased expression:serum
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism 		MouseDO
CTD
RGD		 PMID:28793932 PMID:20726330 PMID:9036998 RGD:7248426, RGD:11352248 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Cd46 CD46 molecule severity ISO mRNA:increased expression:leukocyte (human) RGD PMID:22247341 RGD:6483457 NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:20653937 RGD:6902898 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540 		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 chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Cfh complement factor H susceptibility ISO RGD PMID:21637784 RGD:5684554 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO RGD PMID:24836587 RGD:9587742 NCBI chr 9:961,225...987,825
Ensembl chr 9:961,084...987,868 		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 chr10:5,646,854...5,694,393
Ensembl chr10:5,647,085...5,694,342 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr10:5,434,725...5,631,246
Ensembl chr10:5,434,725...5,630,619 		JBrowse link
G Clu clusterin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15304052 PMID:10090169 RGD:8696021 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		JBrowse link
G Cr2 complement C3d receptor 2 susceptibility ISO protein:decreased expression:B cell
ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:24029428 PMID:24033266 PMID:25741868 More... RGD:127285806 NCBI chr13:109,207,034...109,244,980
Ensembl chr13:109,213,867...109,244,552 		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 chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:15383612 RGD:7257578 NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:198,065,405...198,084,468 		JBrowse link
G Csk C-terminal Src kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042117 NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:66,925,651...66,930,274 		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
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:exons:Japanese(human) 		OMIM
ClinVar
CTD
RGD		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:7204684, RGD:7204691 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		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 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:14596426 RGD:7257684 NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602 		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:16,030,596...16,065,065
Ensembl chr  X:16,030,596...16,065,065 		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 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012 		JBrowse link
G Def6 DEF6 guanine nucleotide exchange factor ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 		CTD
MouseDO		 PMID:26808113 NCBI chr20:6,270,323...6,291,724
Ensembl chr20:6,269,357...6,291,771 		JBrowse link
G Dnase1 deoxyribonuclease 1 susceptibility ISO
ISS 		ClinVar Annotator: match by term: DNASE1-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:10835632 PMID:11479590 PMID:15333586 PMID:18486922 PMID:24206041 More... NCBI chr10:12,005,305...12,030,615
Ensembl chr10:12,005,306...12,010,497 		JBrowse link
G Dnase1l3 deoxyribonuclease 1L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019780 NCBI chr15:19,351,683...19,378,536
Ensembl chr15:19,352,493...19,378,531 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar NCBI chr19:40,149,505...40,152,225
Ensembl chr19:40,149,505...40,152,225 		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 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32190976 NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		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 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:23151030 RGD:11041604 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:28,765,746...28,770,322 		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 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709 		JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 8:39,303,936...39,426,022
Ensembl chr 8:39,303,925...39,426,021 		JBrowse link
G F2 coagulation factor II, thrombin susceptibility ISO DNA:SNP: :19911A>G (rs3136516) (human) RGD PMID:21239755 PMID:20807656 RGD:5147772, RGD:5147776 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G Fam210b family with sequence similarity 210, member B ISS OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 3:181,536,665...181,546,830
Ensembl chr 3:181,536,673...181,546,834 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO
ISS 		DNA:snps:promoter:g.-1377G>A, g.-670A>G (human)
CTD Direct Evidence: marker/mechanism
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) 		CTD
MouseDO
RGD		 PMID:36999444 PMID:23053964 PMID:7531628 PMID:9182923 RGD:8662433, RGD:11049450, RGD:8662437 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility
no_association 		ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.H131R (human)
protein:decreased expression:blood, monocyte
DNA:SNP (human) 		OMIM
CTD
RGD		 PMID:18204446 PMID:21719445 PMID:8254199 PMID:11561111 PMID:14747618 More... RGD:5147916, RGD:5147984, RGD:5147979, RGD:5147976, RGD:5147973, RGD:5147972, RGD:5147926 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fcgr2b Fc gamma receptor 2B susceptibility
no_association
severity
treatment 		ISO
ISS 		DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism
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) 		OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:12115230 PMID:15459183 PMID:15895258 PMID:16115811 PMID:16170323 More... RGD:1547879, RGD:11056171, RGD:11056171, RGD:9588603, RGD:9588566, RGD:7240540, RGD:1547880 NCBI chr13:85,725,897...85,740,517
Ensembl chr13:85,725,897...85,740,517 		JBrowse link
G Fcgr3a Fc gamma receptor 3A 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 chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		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 4:97,484,497...97,486,799
Ensembl chr 4:97,484,502...97,486,807 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20226777 RGD:5490989 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP: :rs1043618 (human) RGD PMID:20498198 RGD:5147600 NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,855,780...3,877,979 		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 chr20:3,853,496...3,860,223
Ensembl chr20:3,853,331...3,876,877 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 		CTD
MouseDO		 PMID:19838195 PMID:24686847 NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:leukocyte,mononuclear
mRNA:increased expression:kidney (human)
protein:increased expression:renal glomerulus 		RGD PMID:22759859 PMID:22660635 PMID:29925830 RGD:6893373, RGD:155663483, RGD:14974252 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr14:90,468,696...90,556,522
Ensembl chr14:90,469,172...90,557,574 		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 chr10:83,956,850...84,049,861
Ensembl chr10:83,962,030...84,049,861 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19838195 PMID:20728533 PMID:12486603 RGD:1580478 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 PMID:26808113 NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human)
mRNA:increased expression:kidney (human) 		RGD PMID:20493423 PMID:22660635 RGD:8698667, RGD:155663483 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human)
mRNA:increased expression:kidney (human) 		RGD PMID:15470475 PMID:22660635 RGD:7401214, RGD:155663483 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		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 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6421522 RGD:8662948 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Il21 interleukin 21 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs907715) (human) 		CTD
RGD		 PMID:17911475 PMID:23236436 RGD:127285363 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142 		JBrowse link
G Il21r interleukin 21 receptor ISO CTD Direct Evidence: therapeutic
DNA:polymorphism: : rs3093301 (human) 		CTD
RGD		 PMID:17911475 PMID:20424514 PMID:19164519 PMID:19644854 RGD:6892931, RGD:6892937, RGD:6892933 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342 		JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:T cell: RGD PMID:21110900 RGD:8549601 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23054011 RGD:7241039 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		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 9:95,735,533...95,840,584
Ensembl chr 9:95,735,530...95,840,589 		JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28003376 NCBI chr 7:127,561,777...127,588,762
Ensembl chr 7:127,561,717...127,597,109 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 		CTD
OMIM
ClinVar		 PMID:15657875 PMID:16642019 PMID:17189288 PMID:17393452 PMID:17476532 More... NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552 		JBrowse link
G Irf8 interferon regulatory factor 8 susceptibility ISO DNA:SNP: (rs4843869) (human) RGD PMID:27021335 RGD:329961559 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:65,699,284...65,721,062 		JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 PMID:18204448 NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:192,089,542...192,139,943 		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 5:120,895,606...121,004,207
Ensembl chr 5:120,896,046...120,996,758 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21880982 RGD:6483022 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		JBrowse link
G Jazf1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 4:83,210,054...83,513,790
Ensembl chr 4:83,210,058...83,513,644 		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 chr19:40,081,126...40,082,910
Ensembl chr19:40,073,541...40,085,218 		JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr16:53,690,180...53,714,570
Ensembl chr16:53,691,220...53,716,339 		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 chr13:96,071,058...96,095,709
Ensembl chr13:96,071,081...96,095,709 		JBrowse link
G Ldlr low density lipoprotein receptor ISO mRNA:decreased expression:leukocyte RGD PMID:19811272 RGD:5490253 NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675 		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 5:21,437,127...21,553,097
Ensembl chr 5:21,437,084...21,554,461 		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 9:111,698,913...111,855,257
Ensembl chr 9:111,698,913...111,867,850 		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 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:5458961 PMID:7677151 PMID:9668175 PMID:10090880 PMID:10737995 More... NCBI chr10:12,288,514...12,303,337
Ensembl chr10:12,293,782...12,303,333 		JBrowse link
G Mir146a microRNA 146a ISO mRNA:increased expression:kidney (human)
mRNA:increased expression:kidney (mouse) 		RGD PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483 NCBI chr10:28,349,996...28,350,090 JBrowse link
G Mir196a2 microRNA 196a-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr 7:135,988,876...135,988,985
Ensembl chr 7:135,988,876...135,988,985 		JBrowse link
G Mir23b microRNA 23b treatment ISO mRNA, protein:decreased expression:kidney (human)
mRNA:decreased expression:kidney (human) 		RGD PMID:22660635 PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483, RGD:155663483 NCBI chr17:1,819,386...1,819,482 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21693493 RGD:6483529 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593 		JBrowse link
G Mmd monocyte to macrophage differentiation-associated ISO associated with Pregnancy Complications;mRNA:increased expression:blood (human) RGD PMID:31684818 RGD:155630630 NCBI chr10:75,570,366...75,598,610
Ensembl chr10:75,570,397...75,598,609 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964 		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:7,904...8,584 		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 1:215,267,286...215,276,008
Ensembl chr 1:215,267,046...215,276,062 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:26,974,601...26,976,304 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:28,121,366...28,131,079 		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 chr19:34,555,832...34,596,281
Ensembl chr19:34,555,832...34,722,846 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA:increased expression:bone marrow macrophage (mouse) RGD PMID:22011580 RGD:5508848 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15304052 PMID:15304052 RGD:6480537 NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:145,629,967...145,633,410 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:17182544 RGD:11074797 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567 		JBrowse link
G Pcnx3 pecanex 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:212,380,657...212,402,967
Ensembl chr 1:212,379,851...212,403,166 		JBrowse link
G Pdcd1 programmed cell death 1 ISO
ISS 		DNA:polymorphism: : 7,146 G>A (human)
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 		MouseDO
RGD		 PMID:17228327 PMID:19116915 RGD:7248674, RGD:7248679 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:serum RGD PMID:19276301 RGD:6483612 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:110,547,153...110,557,747 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr 1:205,763,264...205,796,478
Ensembl chr 1:205,763,549...205,801,557 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:16365454 RGD:6482698 NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:54,478,603...54,529,509 		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 6:137,639,948...137,647,462
Ensembl chr 6:137,639,945...137,649,024 		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 chr16:76,081,903...76,105,174
Ensembl chr16:76,081,864...76,108,180 		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 4:150,095,743...150,221,104
Ensembl chr 4:150,095,787...150,221,104 		JBrowse link
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO RGD PMID:21746932 RGD:5686291 NCBI chr18:34,904,686...35,357,299
Ensembl chr18:34,904,686...35,356,977 		JBrowse link
G Prdm1 PR/SET domain 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 		CTD
MouseDO		 PMID:19838195 NCBI chr20:49,542,465...49,564,088
Ensembl chr20:49,542,465...49,564,088 		JBrowse link
G Prf1 perforin 1 severity ISO RGD PMID:21906646 RGD:6482798 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14870917 NCBI chr17:38,287,355...38,298,234
Ensembl chr17:38,288,162...38,298,217 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17761345 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		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
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
OMIM
CTD
RGD		 PMID:18204446 PMID:21190368 PMID:25741868 PMID:17092257 PMID:23076337 More... RGD:5147973, RGD:11534992, RGD:11533999, RGD:11532755 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		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 chr13:52,147,717...52,259,810
Ensembl chr13:52,147,717...52,259,746 		JBrowse link
G Pxk PX domain containing serine/threonine kinase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr15:19,190,085...19,258,711
Ensembl chr15:19,190,085...19,258,671 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 		CTD
MouseDO		 PMID:26808113 NCBI chr 3:124,624,039...124,684,079
Ensembl chr 3:124,622,313...124,684,434 		JBrowse link
G Rasgrp3 RAS guanyl releasing protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 6:25,647,386...25,745,952
Ensembl chr 6:25,647,386...25,710,591 		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 chr13:45,189,768...45,255,277
Ensembl chr13:45,189,804...45,255,277 		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 chr13:75,707,098...75,779,114
Ensembl chr13:75,707,338...75,772,816 		JBrowse link
G Retn resistin ISO RGD PMID:21885493 RGD:7207148 NCBI chr12:6,508,653...6,511,115
Ensembl chr12:6,508,801...6,511,116 		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 chr13:58,049,838...58,070,828
Ensembl chr13:58,049,858...58,076,264 		JBrowse link
G Rpl12 ribosomal protein L12 ISO RGD PMID:11161982 RGD:11035232 NCBI chr 3:36,661,940...36,664,314
Ensembl chr 3:36,661,939...36,664,306 		JBrowse link
G Rpl14 ribosomal protein L14 ISO RGD PMID:12051391 RGD:11036103 NCBI chr 8:129,163,620...129,166,745
Ensembl chr 8:129,163,317...129,167,459 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:11436868 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms:cds:HLA-DQB1*0201 (human) 		RGD PMID:12651073 PMID:21658414 PMID:18552411 RGD:40902999, RGD:5147560, RGD:5147620 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms:cds:HLA-DRB1*0301 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*1501 (human) 		RGD
CTD		 PMID:11436868 PMID:12651073 PMID:21658414 PMID:20191587 RGD:40902999, RGD:5147560, RGD:5147581 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		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 chr11:81,420,261...81,469,415
Ensembl chr11:81,412,617...81,469,424 		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 3:31,387,892...31,474,415
Ensembl chr 3:31,388,223...31,474,417 		JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr13:78,950,100...78,969,604
Ensembl chr13:78,950,015...78,969,600 		JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression:serum RGD PMID:19833760 RGD:4143493 NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,080,567...17,094,036 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr12:40,391,755...40,414,336
Ensembl chr12:40,392,633...40,414,335 		JBrowse link
G Siglec5 sialic acid binding Ig-like lectin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:102,904,705...102,913,281
Ensembl chr 1:102,904,578...102,913,281 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr: (human) RGD PMID:21233146 RGD:5684928 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238 		JBrowse link
G Slc15a4 solute carrier family 15 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr12:34,684,583...34,718,429
Ensembl chr12:34,698,955...34,719,819 		JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO RGD PMID:10940910 PMID:22454191 RGD:10448935, RGD:10448939 NCBI chr 1:104,992,518...105,012,851
Ensembl chr 1:104,992,442...105,012,851 		JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO RGD PMID:8647956 RGD:10766446 NCBI chr20:5,890,229...5,908,410
Ensembl chr20:5,890,229...5,908,410 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide severity IDA mouse model RGD PMID:12571858 RGD:10755713 NCBI chr18:1,969,351...1,980,207
Ensembl chr18:1,969,674...1,980,207 		JBrowse link
G Snrpd2 small nuclear ribonucleoprotein D2 polypeptide ISO RGD PMID:11823543 RGD:10766471 NCBI chr 1:87,926,030...87,929,259
Ensembl chr 1:87,926,048...87,933,339
Ensembl chr20:87,926,048...87,933,339 		JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide ISO RGD PMID:17640359 RGD:10755704 NCBI chr20:13,129,555...13,145,100
Ensembl chr20:13,109,294...13,145,763 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar
RGD		 PMID:33087723 PMID:14499118 RGD:150573686 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:5,389,334...5,391,847 		JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:SNP, haplotype: :1183C>T (human) RGD PMID:14611903 RGD:1581249 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 onset
treatment 		ISO ClinVar Annotator: match by term: STAT4-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11
CTD Direct Evidence: marker/mechanism
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
ClinVar
CTD
RGD		 PMID:17804842 PMID:18204446 PMID:19109131 PMID:19838193 PMID:19838195 More... RGD:7207867, RGD:7207881, RGD:7207879, RGD:7207878, RGD:7207877, RGD:7207874, RGD:7207869 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Syngr1 synaptogyrin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 7:113,516,246...113,542,918
Ensembl chr 7:113,516,265...113,542,917 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:22660635 RGD:155663483 NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:4,195,400...4,245,485 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:22660635 RGD:155663483 NCBI chr  X:53,923,473...53,995,777
Ensembl chr  X:53,923,492...53,995,610 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member no_association ISO RGD PMID:9014588 RGD:6482277 NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,658,172...4,668,810 		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 chr20:4,638,257...4,652,296
Ensembl chr20:4,638,257...4,651,537 		JBrowse link
G Tcf7 transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr10:36,924,363...36,954,279
Ensembl chr10:36,924,363...36,954,279 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:11709459 RGD:11060258 NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:89,939,868...89,980,742 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:18484695 RGD:5684995 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		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 chr10:31,686,994...31,723,095
Ensembl chr10:31,686,862...31,723,077 		JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:19841185 RGD:7241088 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tlr5 toll-like receptor 5 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 1 		CTD
OMIM
ClinVar		 PMID:14623910 PMID:16027372 PMID:23447684 PMID:25741868 NCBI chr13:97,166,430...97,190,642
Ensembl chr13:97,166,405...97,192,525 		JBrowse link
G Tlr7 toll-like receptor 7 ISS
ISO 		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
ClinVar Annotator: match by term: Systemic lupus erythematosus 		MouseDO
ClinVar		 PMID:35477763 NCBI chr  X:30,644,324...30,670,796
Ensembl chr  X:30,644,355...30,672,151 		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 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
mRNA:increased expression:kidney (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:polymorphisms, haplotype:promoter:multiple (human) 		ClinVar
RGD		 PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... RGD:7245570, RGD:155663483, RGD:7245571 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		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 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979 		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 chr10:46,301,336...46,322,460
Ensembl chr10:46,301,316...46,324,408 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO protein:increased expression:serum RGD PMID:8393677 RGD:7245539 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		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 5:162,356,250...162,387,411
Ensembl chr 5:162,353,848...162,387,411 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059267 PMID:19838193 NCBI chr13:76,256,654...76,280,133
Ensembl chr13:76,256,654...76,280,133 		JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 PMID:19838195 NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,537,437...39,585,158 		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 chr20:44,565,992...44,609,240
Ensembl chr20:44,517,242...44,609,618 		JBrowse link
G Trex1 three prime repair exonuclease 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus 		CTD
OMIM
ClinVar		 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO RGD PMID:18693542 RGD:7241211 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746 		JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:173,078,904...173,101,508
Ensembl chr 3:173,079,041...173,101,854 		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 ClinVar PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 More... NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:154,402,279...154,407,840 		JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More... NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468 		JBrowse link
C1q Deficiency 1 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 1 | ClinVar Annotator: match by term: C1QA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
C1q Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition OMIM
ClinVar		 PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532 NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:154,402,279...154,407,840 		JBrowse link
C1q Deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition OMIM
ClinVar		 PMID:7029321 PMID:8630118 PMID:24157463 PMID:25741868 PMID:28492532 NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468 		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 chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:55,428,024...55,458,679 		JBrowse link
G C3 complement C3 ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:31182691 PMID:21888025 RGD:7175544 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		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 chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:18187931 RGD:7241814 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374 		JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:23799000 PMID:18566369 PMID:19265127 RGD:7248418, RGD:7248429, RGD:7248425 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		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:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Cfb complement factor B ISO RGD PMID:10623824 PMID:3183062 PMID:21893562 RGD:7242736, RGD:7242763, RGD:7242755 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Cfh complement factor H ISO RGD PMID:22171659 RGD:5684551 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Clu clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		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 chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Crp C-reactive protein no_association ISO DNA:SNP RGD PMID:18852001 PMID:17596285 PMID:20039408 PMID:15692982 RGD:6907400, RGD:5508454, RGD:6909146, RGD:6909145 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:21885670 PMID:17659436 RGD:7257567, RGD:7257589 NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:198,065,405...198,084,468 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Egf epidermal growth factor ISO RGD PMID:21354048 RGD:5688301 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:220,893,660...220,976,297 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33632240 PMID:38555047 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:missense mutation:cds:p.H131R (human)
ClinVar Annotator: match by term: Lupus nephritis, susceptibility to 		ClinVar
RGD		 PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 More... RGD:5147975 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO RGD PMID:15681388 RGD:7240529 NCBI chr13:85,725,897...85,740,517
Ensembl chr13:85,725,897...85,740,517 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum,urine
CTD Direct Evidence: marker/mechanism
protein:increased processing:kidney 		CTD
RGD		 PMID:31182691 PMID:22764573 PMID:29925830 RGD:6893369, RGD:14974252 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		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 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		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 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Itgam integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:192,089,542...192,139,943 		JBrowse link
G Jak1 Janus kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:120,896,046...120,996,758 		JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr16:53,690,180...53,714,570
Ensembl chr16:53,691,220...53,716,339 		JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Mir125a microRNA 125a IEP RNA:decreased expression:kidney RGD PMID:30972208 RGD:26884458 NCBI chr 1:67,350,675...67,350,759
Ensembl chr 1:67,350,675...67,350,759 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mpo myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:73,092,400...73,102,056 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr11:81,492,844...81,506,571
Ensembl chr11:81,492,891...81,506,571 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:21509671 PMID:17880936 RGD:7174713, RGD:7174734 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843 		JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chr 1:213,816,400...213,824,679
Ensembl chr 1:213,816,400...213,824,679 		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 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms:cds:HLA-DQA1*0102 (human) 		RGD PMID:12651073 RGD:40902999 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*1501 (human) RGD PMID:12651073 RGD:40902999 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr13:78,950,100...78,969,604
Ensembl chr13:78,950,015...78,969,600 		JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chr 3:90,249,410...90,259,299
Ensembl chr 3:90,249,423...90,258,717 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E treatment IDA mouse model RGD PMID:15494537 RGD:10760401 NCBI chr13:47,596,324...47,609,390
Ensembl chr 8:129,294,325...129,294,603
Ensembl chr13:129,294,325...129,294,603 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:65,365,306...65,383,795 		JBrowse link
G Tlr7 toll-like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:30,644,324...30,670,796
Ensembl chr  X:30,644,355...30,672,151 		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 More... RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		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 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO RGD PMID:19201910 PMID:10906156 RGD:7245569, RGD:7245572 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:22846145 PMID:22674120 RGD:7245541, RGD:7245544 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:162,353,848...162,387,411 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		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 gamma receptor 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr 1:255,838,129...255,849,680
Ensembl chr 1:255,838,129...255,849,680 		JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:192,089,542...192,139,943 		JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr13:79,009,379...79,044,994
Ensembl chr13:79,009,475...79,044,987 		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 1L3 ISO ClinVar Annotator: match by term: DNASE1L3-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus 16 OMIM
ClinVar		 PMID:21692081 PMID:22019780 PMID:24206041 PMID:25741868 PMID:27821515 More... NCBI chr15:19,351,683...19,378,536
Ensembl chr15:19,352,493...19,378,531 		JBrowse link
Systemic Lupus Erythematosus 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr7 toll-like receptor 7 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus 17 OMIM
ClinVar		 PMID:28492532 PMID:35477763 NCBI chr  X:30,644,324...30,670,796
Ensembl chr  X:30,644,355...30,672,151 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      Immune & Inflammatory Diseases 5763
        Inflammation 2849
          systemic lupus erythematosus 212
            C1q Deficiency + 3
            Lupus Vasculitis, Central Nervous System 4
            Neonatal Systemic Lupus Erythematosus 0
            Systemic Lupus Erythematosus 16 1
            Systemic Lupus Erythematosus 17 1
            lupus nephritis 53
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      Immune & Inflammatory Diseases 5763
        immune system disease 5076
          primary immunodeficiency disease 4482
            autoimmune disease 2379
              autoimmune disease of musculoskeletal system 1004
                lupus erythematosus 218
                  systemic lupus erythematosus 212
                    C1q Deficiency + 3
                    Lupus Vasculitis, Central Nervous System 4
                    Neonatal Systemic Lupus Erythematosus 0
                    Systemic Lupus Erythematosus 16 1
                    Systemic Lupus Erythematosus 17 1
                    lupus nephritis 53
paths to the root