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: lupus erythematosus
Accession: DOID:8857
browse the term
Definition: An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. (DO)
Synonyms: exact_synonym: lupus
xref: ICD10CM:L93 ; ICD9CM:695.4 ; NCI:C27153
For additional species annotation, visit the
Alliance of Genome Resources .
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CD1D
CD1d molecule
ameliorates
ISO
RGD
PMID:14561706
RGD:127345108
NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
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C1QA
complement C1q A chain
IAGP
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 PMID:22472776 PMID:25741868 PMID:26563161 PMID:28492532 PMID:29739689 PMID:30008451 More...
NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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C1QB
complement C1q B chain
IAGP
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532
NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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C1QC
complement C1q C chain
IAGP
ClinVar Annotator: match by term: C1Q deficiency
ClinVar
PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 PMID:24157463 PMID:25741868 PMID:28082982 PMID:28492532 PMID:30008451 PMID:31357913 More...
NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
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C1QA
complement C1q A chain
IAGP
ClinVar Annotator: match by term: C1QA-related condition ClinVar Annotator: match by term: C1Q deficiency 1
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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C1QB
complement C1q B chain
IAGP
ClinVar Annotator: match by term: C1Q deficiency 2 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 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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C1QC
complement C1q C chain
IAGP
ClinVar Annotator: match by term: C1QC-related condition ClinVar Annotator: match by term: C1Q deficiency 3
OMIM ClinVar
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532
NCBI chr 1:22,643,633...22,648,108
Ensembl chr 1:22,643,014...22,648,110
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Chilblain lupus
ClinVar
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25741868 PMID:25848017 PMID:28492532 More...
NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Chilblain lupus
ClinVar
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25741868 PMID:25848017 PMID:28492532 More...
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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TREX1
three prime repair exonuclease 1
IAGP
ClinVar Annotator: match by term: Chilblain lupus
ClinVar
PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 PMID:20871604 PMID:21808053 PMID:22829693 PMID:23989343 PMID:25741868 PMID:25848017 PMID:28492532 More...
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Chilblain lupus 1
ClinVar
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 PMID:39825153 More...
NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Chilblain lupus 1
ClinVar
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 PMID:39825153 More...
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27566796
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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STING1
stimulator of interferon response cGAMP interactor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27566796
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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TREX1
three prime repair exonuclease 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chilblain lupus 1
CTD OMIM ClinVar
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27566796 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 PMID:39825153 More...
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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LOC130065805
ATAC-STARR-seq lymphoblastoid silent region 12883
IAGP
ClinVar Annotator: match by term: Chilblain lupus 2
ClinVar
PMID:25741868
NCBI chr20:36,951,203...36,951,422
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SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
IAGP
ClinVar Annotator: match by term: SAMHD1-related condition ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition
OMIM ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:21402907 PMID:22461318 PMID:22973040 PMID:24033266 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:27943079 PMID:28229507 PMID:28492532 PMID:30275001 PMID:33857133 PMID:36311265 More...
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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TLDC2
TBC/LysM-associated domain containing 2
IAGP
ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar Annotator: match by term: SAMHD1-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235
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CCR3
C-C motif chemokine receptor 3
IEP
RGD
PMID:21844117
RGD:6892918
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
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CD40
CD40 molecule
IEP
RGD
PMID:18050371
RGD:8547765
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
IEP
RGD
PMID:18050371
RGD:8547765
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:18981160
RGD:7257572
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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IL17A
interleukin 17A
IEP
protein:increased expression:epidermis (human)
RGD
PMID:20493423
RGD:8698667
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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TREX1
three prime repair exonuclease 1
ISS
MouseDO
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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ANXA1
annexin A1
IDA
RGD
PMID:20701627
RGD:7421565
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629
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CD40
CD40 molecule
IEP
RGD
PMID:18050371
RGD:8547765
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
IEP
RGD
PMID:18050371
RGD:8547765
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:polymorphism: :HLA-DQA1*0102
RGD
PMID:7883595
RGD:8547567
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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IL17A
interleukin 17A
IEP
protein:increased expression:epidermis (human)
RGD
PMID:20493423
RGD:8698667
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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NAT2
N-acetyltransferase 2
treatment
IAGP
DNA:polymorphisms: :
RGD
PMID:9170150
RGD:8552671
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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OGG1
8-oxoguanine DNA glycosylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33072095
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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TRAF3IP2
TRAF3 interacting protein 2
IAGP
ClinVar Annotator: match by term: Discoid lupus erythematosus
ClinVar
PMID:25741868
NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
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TRAF3IP2-AS1
TRAF3IP2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Discoid lupus erythematosus
ClinVar
PMID:25741868
NCBI chr 6:111,483,472...111,602,295
Ensembl chr 6:111,483,389...111,598,784
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AGER
advanced glycosylation end-product specific receptor
IAGP
DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human)
RGD
PMID:22513366
RGD:6767309
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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APOC3
apolipoprotein C3
IEP
protein:increased expression:serum
RGD
PMID:17957542
RGD:7207211
NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
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C3
complement C3
IEP EXP
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31182691 PMID:21888025
RGD:7175544
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CCL2
C-C motif chemokine ligand 2
severity susceptibility
IEP IAGP
protein:increased expression:urine (human) DNA:snp:promoter:g.-2518A>G (human)
RGD
PMID:8558841 PMID:15188361
RGD:8549732 , RGD:11528534
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL3
C-C motif chemokine ligand 3
ISO
RGD
PMID:18187931
RGD:7241814
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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CCR1
C-C motif chemokine receptor 1
disease_progression
ISO
RGD
PMID:15153561
RGD:5688164
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:23799000 PMID:18566369 PMID:19265127
RGD:7248418 , RGD:7248429 , RGD:7248425
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
treatment
IEP ISO IMP IDA
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:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CFB
complement factor B
ISO IEP
RGD
PMID:10623824 PMID:3183062 PMID:21893562
RGD:7242736 , RGD:7242763 , RGD:7242755
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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CFH
complement factor H
IAGP
RGD
PMID:22171659
RGD:5684551
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CLU
clusterin
ISO
mRNA:increased expression: epithelial cell of renal tubule
RGD
PMID:9546356
RGD:8890679
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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COL1A1
collagen type I alpha 1 chain
IEP 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 chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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CRP
C-reactive protein
no_association
IDA IAGP
DNA:SNP
RGD
PMID:18852001 PMID:17596285 PMID:20039408 PMID:15692982
RGD:6907400 , RGD:5508454 , RGD:6909146 , RGD:6909145
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CSF1
colony stimulating factor 1
ISO IEP
RGD
PMID:21885670 PMID:17659436
RGD:7257567 , RGD:7257589
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IDA
RGD
PMID:15146424
RGD:7204726
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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EGF
epidermal growth factor
IEP
RGD
PMID:21354048
RGD:5688301
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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FAS
Fas cell surface death receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33632240 PMID:38555047
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FCGR2A
Fc gamma receptor IIa
IAGP
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 PMID:19965803 PMID:24033266 PMID:25741868 PMID:15004265 More...
RGD:5147975
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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FCGR2B
Fc gamma receptor IIb
ISO
RGD
PMID:15681388
RGD:7240529
NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
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FCGR3A
Fc gamma receptor IIIa
susceptibility
IAGP
DNA:SNP:cds:p.V158F (human)
RGD
PMID:17596285
RGD:5508454
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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FCGR3B
Fc gamma receptor IIIb
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16482158
NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:polymorphisms:cds:HLA-DQA1*0101 (human) DNA:polymorphisms:cds:HLA-DQA1*0102 (human)
RGD
PMID:12651073 PMID:12651073
RGD:40902999 , RGD:40902999
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
DNA:polymorphisms:cds:HLA-DRB1*1501 (human)
RGD
PMID:12651073
RGD:40902999
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IFNG
interferon gamma
IEP EXP IDA
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 chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL17A
interleukin 17A
treatment
ISO
RGD
PMID:25129462
RGD:9244623
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
ISO
RGD
PMID:20980973
RGD:6893449
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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IL1B
interleukin 1 beta
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:21641991 PMID:20410215
RGD:7175315 , RGD:7175344
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
resistance
IEP
associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human)
RGD
PMID:20538031
RGD:6907068
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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ITGAM
integrin subunit alpha M
IAGP
RGD
PMID:21719445
RGD:5147916
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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JAK1
Janus kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
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KLKB1
kallikrein B1
susceptibility
IAGP
DNA:SNPs:promoter:
RGD
PMID:19307730
RGD:7327150
NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
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MBL2
mannose binding lectin 2
disease_progression
IAGP
DNA:polymorphism:exon:
RGD
PMID:24850777
RGD:12910847
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MIR125A
microRNA 125a
ISO
RNA:decreased expression:kidney
RGD
PMID:30972208
RGD:26884458
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
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MMP2
matrix metallopeptidase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MPO
myeloperoxidase
susceptibility
IAGP
DNA:polymorphism: :−463G > A (human)
RGD
PMID:17896805
RGD:7174701
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:17283580
RGD:7245502
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MUC20
mucin 20, cell surface associated
ISO
RGD
PMID:14565953
RGD:7364790
NCBI chr 3:195,720,978...195,733,551
Ensembl chr 3:195,720,884...195,741,123
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO IEP
RGD
PMID:21509671 PMID:17880936
RGD:7174713 , RGD:7174734
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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OTUB1
OTU deubiquitinase, ubiquitin aldehyde binding 1
IEP
protein:increased expression:kidney
RGD
PMID:22279542
RGD:7175260
NCBI chr11:63,986,438...63,998,412
Ensembl chr11:63,985,853...64,001,811
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PDCD1
programmed cell death 1
onset
IAGP 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 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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SELL
selectin L
ISO
RGD
PMID:20512127
RGD:7175284
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
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SERPING1
serpin family G member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:4014294
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
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SNRPE
small nuclear ribonucleoprotein polypeptide E
treatment
IDA
mouse model
RGD
PMID:15494537
RGD:10760401
NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152
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STAT1
signal transducer and activator of transcription 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:31182691
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:20980973
RGD:6893449
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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STAT6
signal transducer and activator of transcription 6
disease_progression
ISO
RGD
PMID:12874250
RGD:7244140
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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TLR7
toll like receptor 7
ISO
RGD
PMID:19944565
RGD:7246905
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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TLR9
toll like receptor 9
severity treatment no_association
ISO IEP IAGP
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 More...
RGD:7245987 , RGD:7246911 , RGD:7246897 , RGD:7246896 , RGD:7245989 , RGD:7246884
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF
tumor necrosis factor
IEP
protein:increased expression:glomerular mesangial cell
RGD
PMID:7750940
RGD:7394786
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF11B
TNF receptor superfamily member 11b
IEP
associated with Lupus Erythematosus, Systemic;protein:increased expression:urine
RGD
PMID:21691937
RGD:7205483
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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TNFRSF1A
TNF receptor superfamily member 1A
severity
ISO IEP
RGD
PMID:19201910 PMID:10906156
RGD:7245569 , RGD:7245572
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
treatment
IDA ISO
RGD
PMID:22846145 PMID:22674120
RGD:7245541 , RGD:7245544
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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VCAM1
vascular cell adhesion molecule 1
severity
IEP
protein:increased expression:urine
RGD
PMID:22788914
RGD:7241032
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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FCGR3A
Fc gamma receptor IIIa
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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FCGR3B
Fc gamma receptor IIIb
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
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INA
internexin neuronal intermediate filament protein alpha
severity
IDA
RGD
PMID:20559547
RGD:40886275
NCBI chr10:103,277,138...103,290,346
Ensembl chr10:103,277,138...103,290,346
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ITGAM
integrin subunit alpha M
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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SELP
selectin P
IEP
RGD
PMID:20179168
RGD:6478687
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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ACE
angiotensin I converting enzyme
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
IEP
protein:decreased expression:plasma (human)
RGD
PMID:12935979
RGD:10449040
NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19109165
RGD:5686827
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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AGER
advanced glycosylation end-product specific receptor
IAGP
DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human)
RGD
PMID:22513366
RGD:6767309
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:21900645
RGD:6892717
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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ANXA3
annexin A3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr 4:78,551,770...78,610,447
Ensembl chr 4:78,551,747...78,610,451
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AP4B1-AS1
AP4B1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:25741868
NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,812,379...113,901,237
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APOA1
apolipoprotein A1
treatment severity
ISO IDA
RGD
PMID:20482780 PMID:20131231
RGD:7241863 , RGD:7241864
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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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 chr 6:106,184,476...106,325,760
Ensembl chr 6:106,045,423...106,325,791
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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 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
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:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35456422 PMID:36586737 More...
NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
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:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35456422 PMID:36586737 More...
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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BANK1
B cell scaffold protein with ankyrin repeats 1
susceptibility
IAGP EXP
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 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812
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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 chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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BLK
BLK proto-oncogene, Src family tyrosine kinase
IAGP EXP
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 PMID:28492532 PMID:29663334 PMID:30191644 PMID:31101814 PMID:31670388 PMID:31683055 PMID:32313195 PMID:19180478 More...
RGD:2316189
NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
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BLK-AS1
BLK antisense RNA 1
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:18204098 PMID:19667185 PMID:24023612 PMID:25741868 PMID:28492532 PMID:29663334 PMID:31670388 PMID:32313195 More...
NCBI chr 8:11,552,486...11,558,265
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BLTP3A
bridge-like lipid transfer protein family member 3A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr 6:34,792,083...34,877,514
Ensembl chr 6:34,792,083...34,877,514
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C1QA
complement C1q A chain
EXP 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 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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C2
complement C2
IEP
RGD
PMID:6409476
RGD:7421516
NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673
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C3
complement C3
severity
IDA
protein:increased processing
RGD
PMID:7510492
RGD:11040772
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C3AR1
complement C3a receptor 1
ISO
protein:increased expression:lung, leukocyte
RGD
PMID:17544263
RGD:5129560
NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359
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C4A
complement C4A (Chido/Rodgers blood group)
IAGP
RGD
PMID:17503323
RGD:5688260
NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
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C4B
complement C4B (Chido/Rodgers blood group)
IAGP 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 chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
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C5AR1
complement C5a receptor 1
ISO
protein:increased expression:lung, leukocyte
RGD
PMID:17544263
RGD:5129560
NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
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CA1
carbonic anhydrase 1
IDA
RGD
PMID:12806141
RGD:408425977
NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014
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CA2
carbonic anhydrase 2
IDA
RGD
PMID:12806141
RGD:408425977
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
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CAST
calpastatin
IDA
RGD
PMID:12367559
RGD:5683623
NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,247,756...96,779,595 Ensembl chr 5:96,247,756...96,779,595
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CAT
catalase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27497885
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CCL2
C-C motif chemokine ligand 2
susceptibility no_association
IAGP
DNA:snp:promoter:g.-2518A>G (human)
RGD
PMID:20414371 PMID:11844145
RGD:11528535 , RGD:11528536
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL4
C-C motif chemokine ligand 4
disease_progression
IEP
protein:increased expression:serum
RGD
PMID:16924394
RGD:5683895
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCR3
C-C motif chemokine receptor 3
severity
IEP
RGD
PMID:21180278
RGD:6893428
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
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CCR5
C-C motif chemokine receptor 5
IEP
mRNA:increased expression:blood, mononuclear cell
RGD
PMID:21180278
RGD:6893428
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CD226
CD226 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr18:69,853,274...69,961,773
Ensembl chr18:69,831,158...69,961,803
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CD4
CD4 molecule
treatment
ISO
RGD
PMID:7914411
RGD:10058961
NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
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CD40
CD40 molecule
susceptibility
IAGP
DNA:SNP: :rs4810485 (human) DNA:SNP: :rs3765456 (human)
RGD
PMID:21914625 PMID:23256180
RGD:5490522 , RGD:7248721
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
IEP ISS EXP ISO
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:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CD46
CD46 molecule
severity
IEP
mRNA:increased expression:leukocyte (human)
RGD
PMID:22247341
RGD:6483457
NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
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CD80
CD80 molecule
IEP
RGD
PMID:20653937
RGD:6902898
NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
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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 chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CENPA
centromere protein A
HDA
RGD
PMID:28460084
RGD:36947378
NCBI chr 2:26,786,056...26,794,589
Ensembl chr 2:26,764,289...26,801,067
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CFB
complement factor B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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CFH
complement factor H
susceptibility
IAGP
RGD
PMID:21637784
RGD:5684554
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CHAF1A
chromatin assembly factor 1 subunit A
IDA
RGD
PMID:24836587
RGD:9587742
NCBI chr19:4,402,640...4,450,830
Ensembl chr19:4,402,640...4,445,018
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CIITA
class II major histocompatibility complex transactivator
resistance no_association
IAGP
DNA:polymorphism:intron:g.485A>G DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006)
RGD
PMID:15897313 PMID:17693604 PMID:17711409
RGD:5491190 , RGD:5491204 , RGD:5491203
NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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CLEC16A
C-type lectin domain containing 16A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr16:10,944,564...11,182,186
Ensembl chr16:10,944,539...11,182,186
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CLU
clusterin
IEP EXP
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15304052 PMID:10090169
RGD:8696021
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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CR2
complement C3d receptor 2
ISO IAGP EXP
protein:decreased expression:B cell ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9 ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:9536098 PMID:17576681 PMID:24029428 PMID:24033266 PMID:25741868 PMID:26325596 PMID:28492532 PMID:28499783 PMID:32888943 PMID:9233655 More...
RGD:127285806
NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
G
CRP
C-reactive protein
disease_progression no_association treatment
IDA EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17718048 PMID:17014014 PMID:20039408 PMID:8261665
RGD:6907402 , RGD:6909146 , RGD:6909144
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:15383612
RGD:7257578
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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CSK
C-terminal Src kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23042117
NCBI chr15:74,782,080...74,803,197
Ensembl chr15:74,782,080...74,803,197
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CTLA4
cytotoxic T-lymphocyte associated protein 4
disease_progression
ISO IAGP EXP
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 PMID:11098935 PMID:11158025 PMID:15138458 PMID:15301861 PMID:15688186 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:28983403 PMID:29077208 PMID:29200144 PMID:29330115 PMID:29729943 PMID:30048690 PMID:30377434 PMID:30940614 PMID:32181586 PMID:32499327 PMID:33864888 PMID:34034269 PMID:34111452 PMID:34234304 PMID:34619682 PMID:34975878 PMID:35250968 PMID:35753512 PMID:19966213 PMID:18185908 More...
RGD:7204684 , RGD:7204691
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CX3CR1
C-X3-C motif chemokine receptor 1
severity
IEP
mRNA:increased expression:blood, mononuclear cell
RGD
PMID:21180278
RGD:6893428
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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CXCR2
C-X-C motif chemokine receptor 2
severity
IEP
RGD
PMID:14596426
RGD:7257684
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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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:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
susceptibility
IAGP
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 chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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DEF6
DEF6 guanine nucleotide exchange factor
EXP 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 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
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DNASE1
deoxyribonuclease 1
susceptibility
IAGP ISS EXP
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to ClinVar Annotator: match by term: DNASE1-related condition 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 MouseDO CTD OMIM
PMID:10835632 PMID:11479590 PMID:15333586 PMID:18486922 PMID:24206041 PMID:25741868 PMID:28492532 More...
NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143
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DNASE1L3
deoxyribonuclease 1L3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019780
NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
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DNASE2
deoxyribonuclease 2, lysosomal
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595
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DNMT1
DNA methyltransferase 1
no_association
IEP
mRNA:decreased expression:T cell:
RGD
PMID:21595664 PMID:18194272
RGD:9588656 , RGD:9588670
NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
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ELN
elastin
IDA
RGD
PMID:12643515
RGD:9585739
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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ENG
endoglin
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532 PMID:32190976
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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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 chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EPOR
erythropoietin receptor
IDA
RGD
PMID:23151030
RGD:11041604
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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ESR2
estrogen receptor 2
susceptibility
IAGP ISO IEP
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 chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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ETS1
ETS proto-oncogene 1, transcription factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193
NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558
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F2
coagulation factor II, thrombin
susceptibility
IAGP IDA
DNA:SNP: :19911A>G (rs3136516) (human)
RGD
PMID:21239755 PMID:20807656
RGD:5147772 , RGD:5147776
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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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 chr20:56,358,974...56,368,663
Ensembl chr20:56,358,974...56,368,663
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FAS
Fas cell surface death receptor
susceptibility
IAGP EXP ISS IEP
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 chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FCGR2A
Fc gamma receptor IIa
susceptibility no_association
IAGP EXP IDA IEP
CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:p.H131R (human) protein:decreased expression:blood, monocyte DNA:SNP (human)
OMIM CTD RGD
PMID:18204446 PMID:21719445 PMID:8254199 PMID:11561111 PMID:14747618 PMID:17092257 PMID:17557887 PMID:18204446 More...
RGD:5147916 , RGD:5147984 , RGD:5147979 , RGD:5147976 , RGD:5147973 , RGD:5147972 , RGD:5147926
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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FCGR2B
Fc gamma receptor IIb
no_association severity susceptibility treatment
IAGP ISS EXP ISO
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) DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
OMIM MouseDO CTD ClinVar RGD
PMID:12115230 PMID:15459183 PMID:15895258 PMID:16115811 PMID:16170323 PMID:17435165 PMID:20385827 PMID:19502269 PMID:26084639 PMID:26084639 PMID:15895258 PMID:15153543 PMID:20530521 PMID:18156625 More...
RGD:7240540 , RGD:11056171 , RGD:11056171 , RGD:1547880 , RGD:1547879 , RGD:9588603 , RGD:9588566
NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
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FCGR3A
Fc gamma receptor IIIa
susceptibility
IEP IAGP
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 chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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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 1:67,685,201...67,688,334
Ensembl chr 1:67,685,201...67,688,334
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GSTM1
glutathione S-transferase mu 1
susceptibility
IAGP
DNA:deletion: :
RGD
PMID:20226777
RGD:5490989
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11436868
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
DNA:polymorphisms: :multiple (human) DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
RGD
PMID:21658414 PMID:12651073 PMID:18552411
RGD:5147560 , RGD:40902999 , RGD:5147620
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP EXP
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)
CTD RGD
PMID:11436868 PMID:21658414 PMID:12651073 PMID:20191587
RGD:5147560 , RGD:40902999 , RGD:5147581
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HSPA1A
heat shock protein family A (Hsp70) member 1A
IAGP
DNA:SNP: :rs1043618 (human)
RGD
PMID:20498198
RGD:5147600
NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
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HSPA1L
heat shock protein family A (Hsp70) member 1 like
IAGP
DNA:SNPs: :rs2075800, rs2227956 (human)
RGD
PMID:20498198
RGD:5147600
NCBI chr 6:31,809,619...31,815,283
Ensembl chr 6:31,809,619...31,815,283
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HSPD1
heat shock protein family D (Hsp60) member 1
IEP
protein:increased expression:serum:
RGD
PMID:8255671
RGD:12910480
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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IFIH1
interferon induced with helicase C domain 1
EXP 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 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IFNG
interferon gamma
IEP 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 chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IKZF1
IKAROS family zinc finger 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193
NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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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 chr17:39,757,715...39,864,312
Ensembl chr17:39,757,715...39,864,312
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IL10
interleukin 10
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19838195 PMID:20728533 PMID:12486603
RGD:1580478
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL12B
interleukin 12B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195 PMID:26808113
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL13
interleukin 13
IEP
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL17A
interleukin 17A
IEP
protein:increased expression:epidermis (human) mRNA:increased expression:kidney (human)
RGD
PMID:20493423 PMID:22660635
RGD:8698667 , RGD:155663483
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1B
interleukin 1 beta
IAGP IEP
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 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
IEP IAGP
protein:increased expression:plasma (human) DNA:polymorphism:exon:g.14709C>T rs315952 (human)
RGD
PMID:20805419 PMID:17176440
RGD:6906963 , RGD:6907356
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL2
interleukin 2
IDA
RGD
PMID:6421522
RGD:8662948
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL21
interleukin 21
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs907715) (human)
CTD RGD
PMID:17911475 PMID:23236436
RGD:127285363
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL21R
interleukin 21 receptor
ISO EXP IAGP
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 chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
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IL23R
interleukin 23 receptor
IEP
protein:increased expression:T cell:
RGD
PMID:21110900
RGD:8549601
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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IL4
interleukin 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18158872
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL5
interleukin 5
IEP
RGD
PMID:23054011
RGD:7241039
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18158872
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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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 2:233,060,342...233,207,903
Ensembl chr 2:233,059,967...233,207,903
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IRAK4
interleukin 1 receptor associated kinase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28003376
NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
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IRF5
interferon regulatory factor 5
IAGP EXP
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10 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:18063667 PMID:18204446 PMID:19838193 PMID:25741868 More...
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
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IRF8
interferon regulatory factor 8
susceptibility
IAGP
DNA:SNP: (rs4843869) (human)
RGD
PMID:27021335
RGD:329961559
NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606
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ITGAM
integrin subunit alpha M
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204446 PMID:18204448
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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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 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
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JAK2
Janus kinase 2
ISO
RGD
PMID:21880982
RGD:6483022
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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JAZF1
JAZF zinc finger 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
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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 chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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KLKB1
kallikrein B1
susceptibility
IAGP
DNA:SNPs:promoter:
RGD
PMID:19307730
RGD:7327150
NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
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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 chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LDLR
low density lipoprotein receptor
IEP
mRNA:decreased expression:leukocyte
RGD
PMID:19811272
RGD:5490253
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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LOC126805994
BRD4-independent group 4 enhancer GRCh37_chr1:207642622-207643821
IAGP
ClinVar Annotator: match by term: CR2-related condition ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9 ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:207,469,277...207,470,476
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LOC126860303
CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11407118-11408317
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:18204098 PMID:19667185 PMID:24023612 PMID:25741868 PMID:28492532 PMID:30191644 PMID:31101814 PMID:31670388 PMID:32313195 More...
NCBI chr 8:11,549,609...11,550,808
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LOC130058479
ATAC-STARR-seq lymphoblastoid silent region 7198
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:33087723
NCBI chr16:11,255,350...11,255,499
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LPA
lipoprotein(a)
IEP
protein:increased ezpression:serum
RGD
PMID:20026018
RGD:5509911
NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275
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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 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
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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 5:109,689,927...109,869,625
Ensembl chr 5:109,689,927...109,869,625
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MBL2
mannose binding lectin 2
susceptibility
IAGP
DNA:SNP:exon DNA:SNP,haplotype:cds:p.G54D,G57E(human)
RGD
PMID:21510992 PMID:11561111
RGD:6903266 , RGD:5147979
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MEFV
MEFV innate immunity regulator, pyrin
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar
PMID:5458961 PMID:7677151 PMID:9668175 PMID:10090880 PMID:10737995 PMID:10854115 PMID:11464238 PMID:11464248 PMID:11588211 PMID:11903360 PMID:11938447 PMID:12955725 PMID:15024140 PMID:15458961 PMID:15717684 PMID:15805719 PMID:16439437 PMID:16627024 PMID:18097735 PMID:18328141 PMID:18662100 PMID:19820229 PMID:19929404 PMID:19967574 PMID:20041150 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20534143 PMID:20602240 PMID:20669279 PMID:20890251 PMID:21358337 PMID:21598804 PMID:21995303 PMID:22261745 PMID:22532615 PMID:23400211 PMID:23588594 PMID:23592051 PMID:23844200 PMID:23907647 PMID:23973724 PMID:24082139 PMID:24289199 PMID:24318677 PMID:24433404 PMID:24797171 PMID:24965843 PMID:25073670 PMID:25261100 PMID:25393764 PMID:25741868 PMID:25866490 PMID:25959027 PMID:26131005 PMID:26215181 PMID:26360812 PMID:26467025 PMID:26537665 PMID:27364639 PMID:27457448 PMID:27994174 PMID:28001092 PMID:28492532 PMID:28573371 PMID:28927886 PMID:29080837 PMID:29314707 PMID:29599418 PMID:30915208 PMID:31204589 PMID:32312770 PMID:32741030 PMID:33497256 PMID:33560333 PMID:33715276 PMID:35490273 PMID:35780723 PMID:37481715 More...
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MIR146A
microRNA 146a
IEP ISO
mRNA:increased expression:kidney (human) mRNA:increased expression:kidney (mouse)
RGD
PMID:22660635 PMID:22660635
RGD:155663483 , RGD:155663483
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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MIR196A2
microRNA 196a-2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27816459
NCBI chr12:53,991,738...53,991,847
Ensembl chr12:53,991,738...53,991,847
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MIR23B
microRNA 23b
treatment
IEP ISO
mRNA, protein:decreased expression:kidney (human) mRNA:decreased expression:kidney (mouse)
RGD
PMID:22660635 PMID:22660635 PMID:22660635
RGD:155663483 , RGD:155663483 , RGD:155663483
NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304
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MKI67
marker of proliferation Ki-67
IEP
RGD
PMID:21693493
RGD:6483529
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
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MMD
monocyte to macrophage differentiation associated
IEP
associated with Pregnancy Complications;mRNA:increased expression:blood (human)
RGD
PMID:31684818
RGD:155630630
NCBI chr17:55,392,622...55,421,835
Ensembl chr17:55,392,622...55,421,924
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MMP1
matrix metallopeptidase 1
IEP
protein:increased expression:plasma (human)
RGD
PMID:9972954
RGD:7207129
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
IAGP
DNA:transition:cds:m.9055A>G (human)
RGD
PMID:18708297
RGD:5490259
NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
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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 chr11:62,593,214...62,601,865
Ensembl chr11:62,593,214...62,601,865
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NAT2
N-acetyltransferase 2
susceptibility
IAGP
DNA:polymorphism: :
RGD
PMID:10599336
RGD:5147680
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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NCF1
neutrophil cytosolic factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
IEP IAGP
protein:increased expression:monocyte DNA:mutation:cds:p.G908R (rs2066845)(human)
RGD
PMID:21886831 PMID:16642031
RGD:5508746 , RGD:13204710
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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NOS2
nitric oxide synthase 2
ISO
mRNA:increased expression:bone marrow macrophage (mouse)
RGD
PMID:22011580
RGD:5508848
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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P2RY12
purinergic receptor P2Y12
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15304052 PMID:15304052
RGD:6480537
NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753
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PARP1
poly(ADP-ribose) polymerase 1
ISO
RGD
PMID:17182544
RGD:11074797
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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PCNX3
pecanex 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr11:65,615,776...65,637,439
Ensembl chr11:65,615,776...65,637,439
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PDCD1
programmed cell death 1
IAGP ISS IDA
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 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PGF
placental growth factor
IEP
protein:increased expression:serum
RGD
PMID:19276301
RGD:6483612
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PHRF1
PHD and ring finger domains 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204446
NCBI chr11:576,470...612,222
Ensembl chr11:576,470...612,222
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:16365454
RGD:6482698
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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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 chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761
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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 chr 8:42,338,494...42,371,808
Ensembl chr 8:42,338,454...42,371,808
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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 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
IEP
RGD
PMID:21746932
RGD:5686291
NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,580,742...147,084,784
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PRDM1
PR/SET domain 1
EXP 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 chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939
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PRF1
perforin 1
severity
IEP
RGD
PMID:21906646
RGD:6482798
NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
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PRL
prolactin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14870917
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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PTGS2
prostaglandin-endoperoxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17761345
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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PTPN22
protein tyrosine phosphatase non-receptor type 22
susceptibility
IAGP EXP
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 PMID:23950893 PMID:18981062 More...
RGD:5147973 , RGD:11534992 , RGD:11533999 , RGD:11532755
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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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 chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,759,342
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PXK
PX domain containing serine/threonine kinase like
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204446
NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127
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RASGRP1
RAS guanyl releasing protein 1
EXP 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 chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
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RASGRP3
RAS guanyl releasing protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193
NCBI chr 2:33,436,348...33,564,731
Ensembl chr 2:33,436,324...33,586,669
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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 chr 1:206,507,531...206,589,448
Ensembl chr 1:206,507,531...206,589,448
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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 chr 1:173,931,084...174,022,357
Ensembl chr 1:173,931,084...174,022,357
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RETN
resistin
IEP
RGD
PMID:21885493
RGD:7207148
NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
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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 chr 1:193,059,612...193,091,777
Ensembl chr 1:193,059,454...193,091,777
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RPL12
ribosomal protein L12
IDA
RGD
PMID:11161982
RGD:11035232
NCBI chr 9:127,447,674...127,451,406
Ensembl chr 9:127,447,674...127,451,406
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RPL14
ribosomal protein L14
IDA
RGD
PMID:12051391
RGD:11036103
NCBI chr 3:40,457,339...40,468,587
Ensembl chr 3:40,457,292...40,468,587
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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 chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727
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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 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
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SELL
selectin L
IEP
RGD
PMID:20512127
RGD:7175284
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
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SFTPD
surfactant protein D
IEP
protein:decreased expression:serum
RGD
PMID:19833760
RGD:4143493
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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SH2B3
SH2B adaptor protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838195
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
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SIGLEC6
sialic acid binding Ig like lectin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr19:51,517,819...51,531,670
Ensembl chr19:51,517,819...51,531,856
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SLC11A1
solute carrier family 11 member 1
IAGP
DNA:deletion:3' utr: (human)
RGD
PMID:21233146
RGD:5684928
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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SLC15A4
solute carrier family 15 member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193
NCBI chr12:128,793,194...128,823,958
Ensembl chr12:128,793,194...128,823,958
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SNRNP70
small nuclear ribonucleoprotein U1 subunit 70
ISO IDA
RGD
PMID:10940910 PMID:22454191
RGD:10448935 , RGD:10448939
NCBI chr19:49,085,451...49,108,604
Ensembl chr19:49,085,419...49,108,605
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SNRPC
small nuclear ribonucleoprotein polypeptide C
IDA
RGD
PMID:8647956
RGD:10766446
NCBI chr 6:34,757,505...34,773,857
Ensembl chr 6:34,757,505...34,773,857
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SNRPD1
small nuclear ribonucleoprotein D1 polypeptide
severity
IDA
mouse model
RGD
PMID:12571858
RGD:10755713
NCBI chr18:21,612,314...21,633,520
Ensembl chr18:21,612,314...21,633,524
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SNRPD2
small nuclear ribonucleoprotein D2 polypeptide
IDA
RGD
PMID:11823543
RGD:10766471
NCBI chr19:45,687,454...45,692,316
Ensembl chr19:45,687,460...45,692,569
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SNRPD3
small nuclear ribonucleoprotein D3 polypeptide
IDA
RGD
PMID:17640359
RGD:10755704
NCBI chr22:24,555,650...24,574,971
Ensembl chr22:24,555,958...24,582,052
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SOCS1
suppressor of cytokine signaling 1
ISO IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus
ClinVar RGD
PMID:33087723 PMID:14499118
RGD:150573686
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
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SOD2
superoxide dismutase 2
IAGP
DNA:SNP, haplotype: :1183C>T (human)
RGD
PMID:14611903
RGD:1581249
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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STAT4
signal transducer and activator of transcription 4
onset treatment
ISO IAGP EXP
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 PMID:25741868 PMID:28492532 PMID:22798666 PMID:18516230 PMID:18803832 PMID:20479942 PMID:23049788 PMID:16920939 PMID:22729903 More...
RGD:7207867 , RGD:7207881 , RGD:7207879 , RGD:7207878 , RGD:7207877 , RGD:7207874 , RGD:7207869
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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SYNGR1
synaptogyrin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr22:39,349,991...39,385,575
Ensembl chr22:39,349,925...39,385,575
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TAB2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
IEP
mRNA, protein:increased expression:kidney (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
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TAB3
TGF-beta activated kinase 1 (MAP3K7) binding protein 3
IEP
mRNA, protein:increased expression:kidney (human)
RGD
PMID:22660635
RGD:155663483
NCBI chr X:30,827,442...30,889,254
Ensembl chr X:30,827,442...30,975,084
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TAP1
transporter 1, ATP binding cassette subfamily B member
no_association
IAGP
RGD
PMID:9014588
RGD:6482277
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility no_association
IAGP
RGD
PMID:12634240 PMID:9014588
RGD:6482273 , RGD:6482277
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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TCF7
transcription factor 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr 5:134,108,218...134,148,210
Ensembl chr 5:134,114,681...134,151,865
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TERT
telomerase reverse transcriptase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26808113
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TFPI
tissue factor pathway inhibitor
IEP
protein:decreased expression:plasma:
RGD
PMID:11709459
RGD:11060258
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
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THBD
thrombomodulin
IEP
protein:increased expression:serum
RGD
PMID:18484695
RGD:5684995
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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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 chr 5:156,919,292...156,963,226
Ensembl chr 5:156,919,292...156,963,226
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TLR4
toll like receptor 4
ISO
RGD
PMID:19841185
RGD:7241088
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR5
toll like receptor 5
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1 ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:25741868
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TLR7
toll like receptor 7
ISS IAGP
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:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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TLR9
toll like receptor 9
susceptibility severity
IAGP 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 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF
tumor necrosis factor
IEP IAGP
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 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:22760475 PMID:22992668 PMID:15642275 PMID:22660635 PMID:11607787 More...
RGD:7245570 , RGD:155663483 , RGD:7245571
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFAIP3
TNF alpha induced protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19165918 PMID:19165919 PMID:19838193 PMID:21336280
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
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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 chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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TNFRSF1A
TNF receptor superfamily member 1A
severity
IEP
protein:increased expression:serum
RGD
PMID:8393677
RGD:7245539
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
severity no_association
IEP IAGP
protein:increased expression:serum DNA:missense mutation:cds:p.M196R (human)
RGD
PMID:8393677 PMID:11607787
RGD:7245539 , RGD:7245571
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TNFSF4
TNF superfamily member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18059267 PMID:19838193
NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583
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TNIP1
TNFAIP3 interacting protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838193 PMID:19838195
NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577
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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 chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
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TREX1
three prime repair exonuclease 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD OMIM 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:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35456422 PMID:36586737 More...
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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VCAM1
vascular cell adhesion molecule 1
severity
IEP
RGD
PMID:18693542
RGD:7241211
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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VIM
vimentin
IDA
RGD
PMID:3780056
RGD:6480476
NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
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YWHAB
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr20:44,885,705...44,908,532
Ensembl chr20:44,885,702...44,908,532
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DNASE1L3
deoxyribonuclease 1L3
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus 16 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 PMID:28492532 PMID:30707351 More...
NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
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TLR7
toll like receptor 7
IAGP
ClinVar Annotator: match by term: Systemic lupus erythematosus 17
OMIM ClinVar
PMID:28492532 PMID:35477763
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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