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: Infectious Skin Diseases
Accession: DOID:9000859
browse the term
Definition: Skin diseases caused by bacteria, fungi, parasites, or viruses.
Synonyms: exact_synonym: Infectious Skin Disease
primary_id: MESH:D012874
alt_id: RDO:0005153
For additional species annotation, visit the
Alliance of Genome Resources .
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Mbl2
mannose binding lectin 2
susceptibility
ISO
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 PMID:16487239
RGD:4889577 , RGD:8693711
NCBI chr 1:228,016,439...228,024,736
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Tlr9
toll-like receptor 9
susceptibility
ISO
DNA:SNP:promoter:g.-1237T>C rs5743836 (human)
RGD
PMID:18275280 PMID:18936185
RGD:5130863 , RGD:5130858
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cd8a
CD8a molecule
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ifna1
interferon, alpha 1
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 5:103,095,767...103,098,260
Ensembl chr 5:103,097,356...103,097,925
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Klrk1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mapk8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:69,614,744...69,622,570
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Ager
advanced glycosylation end product-specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ccl19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccr7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd209d
CD209d molecule
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cftr
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Clec1a
C-type lectin domain family 1, member A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:29489751
NCBI chr 4:162,875,360...162,902,571
Ensembl chr 4:162,877,346...162,901,247
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Clec7a
C-type lectin domain containing 7A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:19864674 PMID:20807886 PMID:24033266
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Crp
C-reactive protein
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Mbl1
mannose binding lectin 1
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
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Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr 1:228,016,439...228,024,736
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S100b
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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Cybc1
cytochrome b-245 chaperone 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5
OMIM ClinVar
PMID:28600779 PMID:30312704 PMID:30361506
NCBI chr10:106,498,730...106,505,549
Ensembl chr10:106,498,725...106,505,596
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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Aprt
adenine phosphoribosyl transferase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
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Cbfa2t3
CBFA2/RUNX1 partner transcriptional co-repressor 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
OMIM ClinVar
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 PMID:4384563 PMID:8168815 PMID:9445163 PMID:9536098 PMID:10440830 PMID:10759707 PMID:10910929 PMID:10914676 PMID:12073015 PMID:16199547 PMID:17576681 PMID:18422995 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:21190454 PMID:22336310 PMID:22876374 PMID:22924696 PMID:23910690 PMID:25741868 PMID:26185101 PMID:26915675 PMID:26936803 PMID:27537055 PMID:27701760 PMID:27980538 PMID:28341171 PMID:28492532 PMID:29454792 PMID:30470980 PMID:30709874 PMID:31456102 PMID:32040803 PMID:32081864 PMID:33717137 More...
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:23910690 PMID:28492532
NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l
PABPN1 like
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Snai3
snail family transcriptional repressor 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Trappc2l
trafficking protein particle complex subunit 2L
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar
PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532
NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY | ClinVar Annotator: match by term: p47-PHOX DEFICIENCY
OMIM ClinVar
PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:16972229 PMID:24446915 PMID:25741868 More...
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Acbd6
acyl-CoA binding domain containing 6
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Cacna1e
calcium voltage-gated channel subunit alpha1 E
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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Cep350
centrosomal protein 350
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,023,327...68,164,478
Ensembl chr13:68,026,891...68,165,214
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Dhx9
DExH-box helicase 9
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069
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Fam163a
family with sequence similarity 163, member A
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,262,867...68,341,323
Ensembl chr13:68,262,872...68,341,049
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Glul
glutamate-ammonia ligase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Ier5
immediate early response 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,270,134...67,272,226
Ensembl chr13:67,270,135...67,272,227
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Lamc1
laminin subunit gamma 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
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Lamc2
laminin subunit gamma 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
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Lhx4
LIM homeobox 4
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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LOC684709
similar to putative membrane protein Re9
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,968,943...66,007,077
Ensembl chr13:66,000,281...66,001,189
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Mr1
major histocompatibility complex, class I-related
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,298,362...67,317,985
Ensembl chr13:67,299,585...67,317,970
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Ncf2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
OMIM ClinVar
PMID:7795241 PMID:8781442 PMID:9536098 PMID:10498624 PMID:10598813 PMID:11499676 PMID:16199547 PMID:16937026 PMID:17576681 PMID:18625437 PMID:19624736 PMID:20167518 PMID:21900546 PMID:23821607 PMID:24033266 PMID:24931457 PMID:25741868 PMID:25937994 PMID:26272171 PMID:28492532 PMID:30290665 PMID:32281309 More...
NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277
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Nmnat2
nicotinamide nucleotide adenylyltransferase 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Npl
N-acetylneuraminate pyruvate lyase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372
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Qsox1
quiescin sulfhydryl oxidase 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
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RGD1304622
similar to 6820428L09 protein
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,388,916...67,427,392
Ensembl chr13:67,389,044...67,421,272
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Rgs16
regulator of G-protein signaling 16
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,887,788...65,891,232
Ensembl chr13:65,887,530...65,892,857
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Rgs8
regulator of G-protein signaling 8
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,804,703...65,848,953
Ensembl chr13:65,804,797...65,846,807
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Rgsl1
regulator of G-protein signaling like 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,915,052...65,969,846
Ensembl chr13:65,915,097...65,968,954
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Rnasel
ribonuclease L
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Shcbp1l
SHC binding and spindle associated 1 like
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:65,568,863...65,599,155
Ensembl chr13:65,568,863...65,599,154
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Smg7
SMG7 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:64,986,145...65,050,698
Ensembl chr13:64,987,434...65,050,582
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Stx6
syntaxin 6
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
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Tdrd5
tudor domain containing 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,394,180...68,447,745
Ensembl chr13:68,394,061...68,441,319
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Tor1aip1
torsin 1A interacting protein 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862
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Tor1aip2
torsin 1A interacting protein 2
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:68,225,226...68,256,536
Ensembl chr13:68,230,009...68,256,536 Ensembl chr13:68,230,009...68,256,536
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Xpr1
xenotropic and polytropic retrovirus receptor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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Zfp648
zinc finger protein 648
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
ClinVar
PMID:28492532
NCBI chr13:66,337,098...66,344,963
Ensembl chr13:66,342,427...66,344,031
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Csf2rb
colony stimulating factor 2 receptor subunit beta
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:24446915 PMID:25741868
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Ncf4
neutrophil cytosolic factor 4
ISO
ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16880254 PMID:17576681 PMID:19692703 PMID:20167518 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29454792 PMID:29969437 PMID:31027832 PMID:34547651 More...
NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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Tex33
testis expressed 33
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072
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Tst
thiosulfate sulfurtransferase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar
PMID:28492532
NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216
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Abca2
ATP binding cassette subfamily A member 2
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Ajm1
apical junction component 1 homolog
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321
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C8g
complement C8 gamma chain
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495
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Card9
caspase recruitment domain family, member 9
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY | ClinVar Annotator: match by term: Candidiasis, familial, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:29307770 PMID:29890237 PMID:30429846 More...
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Ccdc183
coiled-coil domain containing 183
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
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Clic3
chloride intracellular channel 3
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
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Dipk1b
divergent protein kinase domain 1B
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
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Edf1
endothelial differentiation-related factor 1
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
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Egfl7
EGF-like-domain, multiple 7
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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Fbxw5
F-box and WD repeat domain containing 5
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
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Fut7
fucosyltransferase 7
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Lcn10
lipocalin 10
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
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Lcn12
lipocalin 12
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495
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Lcn6
lipocalin 6
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
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Lcn8
lipocalin 8
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
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Mamdc4
MAM domain containing 4
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
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Man1b1
mannosidase, alpha, class 1B, member 1
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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Mir126b
microRNA 126b
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,415,087...9,415,159
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Npdc1
neural proliferation, differentiation and control, 1
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
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Paxx
PAXX, non-homologous end joining factor
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521
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Phpt1
phosphohistidine phosphatase 1
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,392,926...8,394,325
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Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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Ptgds
prostaglandin D2 synthase
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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Rabl6
RAB, member RAS oncogene family-like 6
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
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Sapcd2
suppressor APC domain containing 2
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
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Sec16a
SEC16 homolog A, endoplasmic reticulum export factor
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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Tmem141
transmembrane protein 141
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
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Traf2
Tnf receptor-associated factor 2
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
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Uap1l1
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY
ClinVar
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
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Clec7a
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis
OMIM ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Il17f
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30290665 More...
NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482
G
Traf3ip2
Traf3 interacting protein 2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
G
Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
G
Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
G
Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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Il17rc
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532
NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
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Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:29481557
RGD:14975102
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Cyba
cytochrome b-245 alpha chain
ISO
autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human) ClinVar Annotator: match by term: Chronic granulomatous disease CTD Direct Evidence: marker/mechanism DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human) DNA:mutations:multiple (human)
ClinVar CTD RGD
PMID:1763037 PMID:2243141 PMID:3368442 PMID:8168815 PMID:9445163 PMID:9536098 PMID:10440830 PMID:10759707 PMID:10910929 PMID:16199547 PMID:17576681 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:21190454 PMID:22336310 PMID:22876374 PMID:22924696 PMID:25741868 PMID:26185101 PMID:26936803 PMID:27537055 PMID:27701760 PMID:28341171 PMID:28492532 PMID:29454792 PMID:30709874 PMID:31456102 PMID:32040803 PMID:32081864 PMID:33717137 PMID:1415254 PMID:10759707 PMID:2243141 More...
RGD:1600791 , RGD:11040541 , RGD:734861
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cybb
cytochrome b-245 beta chain
ISO
DNA:point mutations:promoter ClinVar Annotator: match by term: Chronic granulomatous disease CTD Direct Evidence: marker/mechanism|therapeutic DNA:mutations:promoter:
ClinVar CTD RGD
PMID:1347621 PMID:8634410 PMID:11045425 PMID:11122248 PMID:11498749 PMID:17293536 PMID:18546332 PMID:20729109 PMID:21190454 PMID:21278736 PMID:22924737 PMID:23859418 PMID:24276928 PMID:25741868 PMID:28492532 PMID:29560547 PMID:8083361 PMID:11122248 More...
RGD:1599664 , RGD:11040566
NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
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G6pd
glucose-6-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4125296
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Ifng
interferon gamma
ISO
RGD
PMID:22883043
RGD:6893353
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ncf1
neutrophil cytosolic factor 1
ISO ISS
autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960
MouseDO RGD
PMID:7678602 PMID:2393022
RGD:1600562 , RGD:1624401
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Ncf2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar RGD
PMID:2393022
RGD:1624401
NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277
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Ncf4
neutrophil cytosolic factor 4
ISO
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar
PMID:19692703 PMID:29969437 PMID:34034819
NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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Tlr5
toll-like receptor 5
ISO
protein:decreased expression:blood, neutrophil (human)
RGD
PMID:18155283
RGD:5130865
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:blood, neutrophil (human)
RGD
PMID:18155283
RGD:5130865
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Card9
caspase recruitment domain family, member 9
ISS
OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445
MouseDO
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Clec7a
C-type lectin domain containing 7A
ISS
OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445
MouseDO
NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897
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Il17f
interleukin 17F
ISS
OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445
MouseDO
NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482
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Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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Il17rc
interleukin 17 receptor C
ISS
OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445
MouseDO
NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
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Mapk8
mitogen-activated protein kinase 8
ISO
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)
RGD
PMID:31784499
RGD:150340677
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 More...
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Traf3ip2
Traf3 interacting protein 2
ISS
OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445
MouseDO
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
ClinVar
PMID:8810255 PMID:25739914 PMID:28492532
NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
OMIM ClinVar
PMID:290284 PMID:2682973 PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28783691 PMID:28864286 PMID:29107076 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31503426 PMID:31980526 PMID:32447396 PMID:33193364 PMID:33365035 PMID:33628209 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
OMIM ClinVar
PMID:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17572155 PMID:18025461 PMID:18033247 PMID:18463379 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29658452 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:31058115 PMID:31334206 PMID:31388879 PMID:31838659 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33628209 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Cat
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12874303
RGD:5688168
NCBI chr 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:foot, lymph node
RGD
PMID:12874303
RGD:5688168
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:23632983 PMID:17214851
RGD:8549764 , RGD:8549765
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd163
CD163 molecule
ISO
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human)
RGD
PMID:32023254
RGD:127345130
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd274
CD274 molecule
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Col1a1
collagen type I alpha 1 chain
ISO
DNA:SNPs: :rs1061237, rs2586488 (human)
RGD
PMID:25562121
RGD:11041176
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013
RGD:40890273
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:Peripheral blood mononuclear cell:
CTD RGD
PMID:20102417 PMID:29205403
RGD:38455981
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
treatment
ISO
RGD
PMID:12739821 PMID:18924210
RGD:8549536 , RGD:8549561
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:29078003
RGD:39457938
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Klrk1
killer cell lectin like receptor K1
treatment
ISO
associated with lymphocytic choriomeningitis
RGD
PMID:26290604
RGD:39128165
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Lta
lymphotoxin alpha
no_association
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:16950634
RGD:8548800
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Ltb
lymphotoxin beta
ISO
RGD
PMID:17911622
RGD:8548820
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
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Mmp2
matrix metallopeptidase 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21091666 PMID:21091666
RGD:8657030
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Pdcd1lg2
programmed cell death 1 ligand 2
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 1:227,158,941...227,223,938
Ensembl chr 1:227,158,941...227,223,938
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion (human)
RGD
PMID:20089160
RGD:5684930
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:10458767
RGD:8661703
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tlr2
toll-like receptor 2
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
no_association
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20102417 PMID:16950634
RGD:8548800
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ido1
indoleamine 2,3-dioxygenase 1
severity
ISO
associated with atopic dermatitis; protein:increased activity:serum (human)
RGD
PMID:26198597
RGD:11528429
NCBI chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
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Ifng
interferon gamma
susceptibility
ISO
mRNA,protein:decreased expression:peripheral mononuclear cell: DNA:haplotype::
RGD
PMID:21458658 PMID:21458658
RGD:6480259 , RGD:6480259
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Tmc6
transmembrane channel like 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Tnrc6c
trinucleotide repeat containing adaptor 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194
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Tmc6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
OMIM ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 More...
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Tmc6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
OMIM ClinVar
PMID:10084299 PMID:12426567 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Cib1
calcium and integrin binding 1
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
OMIM ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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Rhoh
ras homolog family member H
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4
ClinVar OMIM
PMID:22850876
NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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Il7
interleukin 7
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5
OMIM ClinVar
PMID:25981006
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Ncstn
nicastrin
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 1
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 PMID:28492532 PMID:32926179 More...
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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Psenen
presenilin enhancer gamma secretase subunit
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 2
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 PMID:28492532 PMID:28601418 More...
NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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Psen1
presenilin 1
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 3
OMIM ClinVar
PMID:11389157 PMID:20929727 PMID:25741868 PMID:28492532
NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Ncstn
nicastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Psenen
presenilin enhancer gamma secretase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Ifnar1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifng
interferon gamma
ISO
protein:increased expression:vaginal secretion:
RGD
PMID:10366565
RGD:8158034
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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Il3
interleukin 3
ISO
RNA: increased expression
RGD
PMID:21175248
RGD:5686876
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Irf9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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Nfe2l2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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Rnasel
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Stat4
signal transducer and activator of transcription 4
treatment severity
ISO
DNA:SNP:intron:rs7572482 (human) DNA:SNPs, haplotype: :multiple
RGD
PMID:22718836 PMID:22718836
RGD:8661697 , RGD:8661697
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Apoe
apolipoprotein E
ISO
RGD
PMID:17101197
RGD:7771596
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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C3
complement C3
ISO
RGD
PMID:11509581
RGD:7401276
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:9544579
RGD:8549472
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:18614643
RGD:127345112
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Cd274
CD274 molecule
ISO
RGD
PMID:29669784
RGD:41412169
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd40lg
CD40 ligand
ISO
RGD
PMID:11134274
RGD:8547770
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cd8a
CD8a molecule
ISO
mRNA:increased expression:trigeminal ganglion (mouse)
RGD
PMID:19151393
RGD:124715454
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Dock8
dedicator of cytokinesis 8
severity
ISO
RGD
PMID:25776845
RGD:11055046
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:30050136
RGD:40902865
NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
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Il18
interleukin 18
treatment
ISO
RGD
PMID:9971824
RGD:8655923
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il21
interleukin 21
treatment
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:19233474 PMID:16406655
RGD:127285367 , RGD:127285372
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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Il33
interleukin 33
ISO
protein:increased expression:skin
RGD
PMID:26872602 PMID:26872602
RGD:39939003 , RGD:39939003
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Irf5
interferon regulatory factor 5
susceptibility
ISO
associated with multiple sclerosis;DNA:SNP: :rs3807306 (human)
RGD
PMID:20861862
RGD:40924643
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Mbl1
mannose binding lectin 1
ISO
protein:increased expression:serum:
RGD
PMID:15498041
RGD:8693727
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
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Mbl2
mannose binding lectin 2
susceptibility disease_progression
ISO
DNA:polymorphism:cds:
RGD
PMID:19480845 PMID:15498041 PMID:15498041
RGD:8693725 , RGD:8693727 , RGD:8693727
NCBI chr 1:228,016,439...228,024,736
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Nectin1
nectin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168 PMID:11602758 PMID:30319691
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30050136 PMID:25316792
RGD:40902865 , RGD:127229943
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Rpl30
ribosomal protein L30
ISO
protein:increased serine phosphorylation:ribosome
RGD
PMID:7588575
RGD:11039399
NCBI chr 7:65,648,470...65,651,363
Ensembl chr 7:65,645,991...65,651,363 Ensembl chr10:65,645,991...65,651,363
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Aqp4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Calca
calcitonin-related polypeptide alpha
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Calcr
calcitonin receptor
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Irf3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
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Lta
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:brain
RGD
PMID:20483026 PMID:15364410
RGD:8547867 , RGD:8547868
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Ticam1
toll-like receptor adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:1,102,559...1,115,573
Ensembl chr 9:1,102,366...1,123,147
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Tlr2
toll-like receptor 2
disease_progression
ISO IEP
RGD
PMID:14739339 PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
IEP
RGD
PMID:20806060
RGD:5130178
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
resistance
IEP
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Traf3
Tnf receptor-associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
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Aldh3b1
aldehyde dehydrogenase 3 family, member B1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 1:201,145,309...201,162,675
Ensembl chr 1:201,145,309...201,163,921
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Ankrd37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,269,025...46,271,971
Ensembl chr16:46,268,443...46,271,963
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Ccdc110
coiled-coil domain containing 110
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,315,745...46,337,050
Ensembl chr16:46,315,745...46,337,021
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Cfap97
cilia and flagella associated protein 97
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,086,104...46,135,194
Ensembl chr16:46,086,111...46,125,933
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Cyp4v3
cytochrome P450, family 4, subfamily v, polypeptide 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
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F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437
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Fam149a
family with sequence similarity 149, member A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,855,377...46,914,553
Ensembl chr16:46,854,635...46,912,066
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Klkb1
kallikrein B1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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Lrp2bp
Lrp2 binding protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,241,554...46,269,221
Ensembl chr16:46,243,430...46,269,642
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Mtnr1a
melatonin receptor 1A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
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Ndufs8
NADH:ubiquinone oxidoreductase core subunit S8
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
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Pdlim3
PDZ and LIM domain 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
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RGD1564308
similar to LOC495042 protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Snx25
sorting nexin 25
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,134,552...46,238,471
Ensembl chr16:46,125,804...46,238,440
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Sorbs2
sorbin and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,435,220...46,748,743
Ensembl chr16:46,435,237...46,626,514
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Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 More...
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
OMIM ClinVar
PMID:9536098 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
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Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
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Ahnak2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,830,668...131,876,311
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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Ankrd9
ankyrin repeat domain 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
G
Aspg
asparaginase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
G
Atp5mj-ps1
ATP synthase membrane subunit j, pseudogene 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 1:168,472,019...168,472,630
Ensembl chr 1:168,472,329...168,472,610
G
Bag5
BAG cochaperone 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970
G
Brf1
BRF1, RNA polymerase III transcription initiation factor subunit
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
G
Btbd6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587
G
Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377
G
Cdca4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564
G
Cep170b
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658
G
Cinp
cyclin-dependent kinase 2-interacting protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,878,618...129,899,575
Ensembl chr 6:129,885,570...129,899,480
G
Ckb
creatine kinase B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
G
Clba1
clathrin binding box of aftiphilin containing 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662
G
Coa8
cytochrome c oxidase assembly factor 8
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
G
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
G
Eif5
eukaryotic translation initiation factor 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,589,200...130,597,656
Ensembl chr 6:130,589,143...130,597,656
G
Exoc3l4
exocyst complex component 3-like 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,452,680...130,466,684
Ensembl chr 6:130,452,661...130,466,683
G
Gpr132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168
G
Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
G
Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
G
Jag2
jagged canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
G
Kif26a
kinesin family member 26A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,214,839...131,250,874
Ensembl chr 6:131,214,861...131,250,320
G
Klc1
kinesin light chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
G
LOC691485
hypothetical protein LOC691485
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,557,193...131,568,245
Ensembl chr 6:131,559,690...131,567,342
G
Mark3
microtubule affinity regulating kinase 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647
G
Mok
MOK protein kinase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700
G
Nudt14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298
G
Pacs2
phosphofurin acidic cluster sorting protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
G
Pld4
phospholipase D family, member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
G
Ppp1r13b
protein phosphatase 1, regulatory subunit 13B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,890,679...130,963,845
Ensembl chr 6:130,890,679...130,963,330
G
Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
G
Rcor1
REST corepressor 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
G
Rd3l
RD3 like
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,042,274...131,044,178
Ensembl chr 6:131,042,185...131,044,163
G
Siva1
SIVA1, apoptosis-inducing factor
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,705,312...131,709,697
Ensembl chr 6:131,705,323...131,709,690
G
Tdrd9
tudor domain containing 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651
G
Tecpr2
tectonin beta-propeller repeat containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
G
Tmem179
transmembrane protein 179
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,569,289...131,580,413
Ensembl chr 6:131,569,290...131,580,305
G
Tnfaip2
TNF alpha induced protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914
G
Traf3
Tnf receptor-associated factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31681265
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
G
Trmt61a
tRNA methyltransferase 61A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,737,230...130,743,251
Ensembl chr 6:130,737,219...130,743,243
G
Wdr20
WD repeat domain 20
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,751,952...129,821,464
Ensembl chr 6:129,752,014...129,847,339
G
Xrcc3
X-ray repair cross complementing 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
G
Zbtb42
zinc finger and BTB domain containing 42
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685
G
Zfp839
zinc finger protein 839
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,865,859...129,885,816
Ensembl chr 6:129,864,915...129,886,389
G
Zfyve21
zinc finger FYVE-type containing 21
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,873,979...130,894,618
Ensembl chr 6:130,873,912...130,894,411
G
Ticam1
toll-like receptor adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
OMIM ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr 9:1,102,559...1,115,573
Ensembl chr 9:1,102,366...1,123,147
G
Irf3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 7
OMIM ClinVar
PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
G
Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:18515564
RGD:7771550
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:24370835
RGD:126781690
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
associated with Herpes Simplex, Type 1
RGD
PMID:16997857
RGD:8548890
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl20
C-C motif chemokine ligand 20
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18798077 PMID:16476970
RGD:8551819 , RGD:8551837
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Ccr6
C-C motif chemokine receptor 6
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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Cd274
CD274 molecule
ISO
RGD
PMID:16253242
RGD:41410794
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:18798077
RGD:8551819
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
G
Ifnb1
interferon beta 1
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 5:103,020,969...103,021,523
Ensembl chr 5:103,020,969...103,021,523
G
Ifng
interferon gamma
ISO
RGD
PMID:12162877
RGD:8157603
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:22467659
RGD:7364834
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il1b
interleukin 1 beta
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423
RGD:7401196
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:15258192
RGD:8549793
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il21
interleukin 21
treatment
ISO
RGD
PMID:29370719 PMID:21204603
RGD:127285376 , RGD:127285545
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
G
Il23a
interleukin 23 subunit alpha
ISO
mRNA;increased expression:trigeminal ganglion (mouse)
RGD
PMID:12162874
RGD:39457946
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Kdr
kinase insert domain receptor
treatment
ISO
protein:increased expression:cornea:
RGD
PMID:16951377 PMID:16951377
RGD:8549742 , RGD:8549742
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Rnasel
ribonuclease L
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:17686871
RGD:7794851
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cornea:
RGD
PMID:17686871 PMID:17667620
RGD:7794851 , RGD:8552970
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:17686871
RGD:7794851
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423 PMID:12162877
RGD:7401196 , RGD:8157603
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Cd163
CD163 molecule
ISO
protein:increased expression:dermis (human)
RGD
PMID:29603182
RGD:127285799
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
Il17d
interleukin 17D
sexual_dimorphism
ISO
mRNA:increased expression:apocrine gland (human)
RGD
PMID:32031713
RGD:40903066
NCBI chr15:31,665,795...31,688,840
G
Lcn2
lipocalin 2
disease_progression
ISO
RGD
PMID:28256718
RGD:126781708
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Mefv
MEFV innate immuity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
G
Ncstn
nicastrin
ISS
OMIM:142690 | OMIM:613736 | OMIM:613737
MouseDO
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Psen1
presenilin 1
ISS
OMIM:142690 | OMIM:613736 | OMIM:613737
MouseDO
NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
G
Psenen
presenilin enhancer gamma secretase subunit
ISS
OMIM:142690 | OMIM:613736 | OMIM:613737
MouseDO
NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
G
Tnf
tumor necrosis factor
ISO
DNA:polymorphism,haplotype:promoter:-238G>A(human)
RGD
PMID:23106544
RGD:7777155
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 7
ClinVar
PMID:25741868
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
G
Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 31C
OMIM ClinVar
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26494717 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28815025 PMID:30317461 PMID:30442829 More...
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
G
Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Immunodeficiency 51
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:26871944 PMID:27930337 PMID:28492532 More...
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
G
Tlr3
toll-like receptor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 2 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS
OMIM ClinVar
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 More...
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
RGD
PMID:11160230
RGD:11528533
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccr6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Cybb
cytochrome b-245 beta chain
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
G
Cyp2c6v1
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
G
Elane
elastase, neutrophil expressed
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
G
Il17a
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr 1:228,016,439...228,024,736
G
Ptx3
pentraxin 3
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:30275011 PMID:28487045
RGD:38501097 , RGD:38508892
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
S100b
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:12917249
RGD:11528529
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Cd209d
CD209d molecule
susceptibility
ISO
DNA:SNPs:3'utr,intron:multiple
RGD
PMID:22384201
RGD:39938996
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
G
Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
IEP
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
G
Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr 1:228,016,439...228,024,736
G
Ptx3
pentraxin 3
susceptibility no_association
ISO
DNA:SNP:intron:rs1840680 (human) protein:increased expression:bronchoalveolar lavage fluid, plasma (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD
PMID:29020397 PMID:29964232 PMID:29020397 PMID:29020397
RGD:38501098 , RGD:38508894 , RGD:38501098 , RGD:38501098
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:brain
RGD
PMID:25014011
RGD:8695986
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Arg1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21232540
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
G
Btk
Bruton tyrosine kinase
susceptibility
ISO
RGD
PMID:28783468
RGD:124715477
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
C3
complement C3
ISO
RGD
PMID:15378355
RGD:7401274
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10899907
RGD:8661227
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr5
C-C motif chemokine receptor 5
disease_progression
ISO
associated with HIV Infections;protein:increased expression:blood, T cell
RGD
PMID:10553079 PMID:17457607
RGD:8551832 , RGD:8551841
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218153
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
G
Dusp1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr10:16,680,489...16,683,276
G
Dusp6
dual specificity phosphatase 6
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16540374 PMID:17218153 PMID:2145107
RGD:7829781
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:20404924
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il18
interleukin 18
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16879623 PMID:10768930
RGD:8655909
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il2
interleukin 2
ISO
RGD
PMID:6224858
RGD:8693326
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il21
interleukin 21
exacerbates
ISO
protein:increased expression:popliteal lymph node (mouse)
RGD
PMID:22429963
RGD:127285547
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
G
Il27
interleukin 27
exacerbates
ISO
RGD
PMID:25466588
RGD:126790552
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:2145107 PMID:2521244
RGD:7829781 , RGD:7829820
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Itgb2
integrin subunit beta 2
ameliorates
ISO
RGD
PMID:14502280
RGD:127285813
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670606
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
G
Slc6a4
solute carrier family 6 member 4
ISO
lupoid leishmaniasis;protein:increased expression:skin of body (human)
RGD
PMID:23989888
RGD:36947873
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf18
TNF receptor superfamily member 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20139272
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
G
Tnfsf4
TNF superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10637281
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
G
Trem1
triggering receptor expressed on myeloid cells 1
severity
ISO
RGD
PMID:24453980
RGD:126925972
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Vdr
vitamin D receptor
ISO
RGD
PMID:17551101
RGD:8158083
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29253318
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7854095
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Lta
lymphotoxin alpha
ISO
DNA:polymorphism:intron
RGD
PMID:7595196
RGD:8548799
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:7595196
RGD:8548799
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic
OMIM ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Il13
interleukin 13
severity
ISO
protein:increased expression:serum
RGD
PMID:22805723
RGD:8549600
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103;
RGD
PMID:22117902
RGD:8547660
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Ha
RT1 class II, locus Ha
ISO
RGD
PMID:8854084
RGD:6480649
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
G
Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:19168746
RGD:8662882
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
G
Tlr4
toll-like receptor 4
ISO
RGD
PMID:11884755
RGD:7794682
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18292527
RGD:4892087
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cd28
Cd28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
RT1-Db1
RT1 class II, locus Db1
severity
ISO
DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human)
RGD
PMID:17325942
RGD:5147631
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Ptx3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Cat
catalase
treatment
ISO
RGD
PMID:17884035
RGD:9479747
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Clu
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
G
Fgf10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
G
Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Irf1
interferon regulatory factor 1
treatment
ISO
DNA:SNPs,haplotype: :rs839, rs9282763(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
G
Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:SNP:exon:rs1801133(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Tlr4
toll-like receptor 4
ISO
RGD
PMID:19740386
RGD:7794681
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Il17a
interleukin 17A
ISO
RGD
PMID:24614654
RGD:9068425
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il33
interleukin 33
treatment
ISO
mRNA,protein:increased expression:skin
RGD
PMID:23892028 PMID:23892028
RGD:40400893 , RGD:40400893
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:27524612
RGD:127229915
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Serpinf1
serpin family F member 1
severity
ISO
RGD
PMID:25515118
RGD:36174009
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:16129701
RGD:8655932
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il5
interleukin 5
severity
ISO
RGD
PMID:9824515
RGD:11354934
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:7835923
RGD:7794724
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Ccl11
C-C motif chemokine ligand 11
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:16168564
RGD:7248410
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:26732352
RGD:11534298
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Olig2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:25773181
RGD:40902825
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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Aicda
activation-induced cytidine deaminase
ISO
mRNA:altered expression:Bcell,CD4Tcell
RGD
PMID:31001826
RGD:32716386
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21991751
RGD:5683905
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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Ccr2
C-C motif chemokine receptor 2
ISO
associated with Malnutrition;mRNA:increased expression:lymph node,spleen:
RGD
PMID:24818662
RGD:8661728
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
treatment
ISO
RGD
PMID:24617012
RGD:14401738
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17404324 PMID:8035028
RGD:10449527
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461696 PMID:23729024
RGD:42724459
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013
RGD:8158041 , RGD:40890273
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990
RGD:14975172
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il10ra
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il27
interleukin 27
ISO
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il2rb
interleukin 2 receptor subunit beta
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:32038622 PMID:30067973
RGD:40924560 , RGD:40924629
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Lta
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Ltb
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
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Mbl2
mannose binding lectin 2
disease_progression susceptibility
ISO
protein:increased expression:serum: DNA:SNPs,haplotype:promoter,exon: DNA:polymorphism:promoter:
RGD
PMID:17357060 PMID:26297290 PMID:26297290 PMID:22995279 PMID:17357060
RGD:8693721 , RGD:11522692 , RGD:11522692 , RGD:8693726 , RGD:8693721
NCBI chr 1:228,016,439...228,024,736
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Mir155
microRNA 155
ISO
RGD
PMID:31182615
RGD:21081525
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir21
microRNA 21
treatment
ISO
RGD
PMID:31608064
RGD:40925951
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:enhancer: (rs9271858) (human)
CTD RGD
PMID:23291585 PMID:23291585
RGD:127285406
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tlr2
toll-like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tnf
tumor necrosis factor
severity
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28166811 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:12692554 More...
RGD:734860
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dars1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:28492532
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cybb
cytochrome b-245 beta chain
treatment
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant DNA:deletion:cds: DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)
OMIM ClinVar RGD
PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 PMID:2072910 PMID:2523713 PMID:2556453 PMID:2838754 PMID:3600768 PMID:8070813 PMID:8101486 PMID:8182143 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:8961628 PMID:9536098 PMID:9585602 PMID:9667376 PMID:9774399 PMID:9856476 PMID:10068684 PMID:10089913 PMID:10627478 PMID:10828042 PMID:10914676 PMID:10980575 PMID:11112388 PMID:11162142 PMID:11413138 PMID:11435314 PMID:11462241 PMID:11566256 PMID:11700292 PMID:11997083 PMID:12094329 PMID:12139950 PMID:12589359 PMID:14697745 PMID:15082894 PMID:15338276 PMID:15454837 PMID:16199547 PMID:17576681 PMID:18509647 PMID:18546332 PMID:18708296 PMID:19410294 PMID:19483051 PMID:20228266 PMID:20724480 PMID:20729109 PMID:21190454 PMID:21604087 PMID:21659519 PMID:22540226 PMID:22876374 PMID:22924696 PMID:22924737 PMID:22929960 PMID:23193493 PMID:23859418 PMID:23910690 PMID:23956436 PMID:24276928 PMID:24943880 PMID:24999735 PMID:25252997 PMID:25525159 PMID:25666294 PMID:25741868 PMID:26185101 PMID:26453586 PMID:26936803 PMID:27701760 PMID:27853979 PMID:27980538 PMID:28168067 PMID:28251166 PMID:28492532 PMID:29560547 PMID:29702544 PMID:30237823 PMID:30470980 PMID:30506560 PMID:30633606 PMID:30716179 PMID:32040803 PMID:12804147 PMID:7694872 PMID:10068684 More...
RGD:11040567 , RGD:11040562 , RGD:11040560
NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
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Dynlt3
dynein light chain Tctex-type 3
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139
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H2ap
H2A.P histone
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,907,962...12,908,516
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Otc
ornithine transcarbamylase
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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Srpx
sushi-repeat-containing protein, X-linked
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
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Sytl5
synaptotagmin-like 5
ISO
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked
ClinVar
PMID:22929960 PMID:27701760 PMID:28492532
NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
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