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
Accession: DOID:9074
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 .
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Dnase1
deoxyribonuclease 1
ISO
ClinVar Annotator: match by term: Systemic lupus erythematosus 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6
CTD ClinVar
PMID:18204446 PMID:18204448 PMID:25741868
NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Systemic lupus erythematosus 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Egf
epidermal growth factor
ISO
RGD
PMID:21354048
RGD:5688301
NCBI chr 2:68,820,616...68,895,537
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DRB1*1501 (human)
RGD
PMID:12651073
RGD:40902999
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Ina
internexin neuronal intermediate filament protein, alpha
severity
ISO
RGD
PMID:20559547
RGD:40886275
NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all