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
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccr1
C-C motif chemokine receptor 1
IMP
RGD
PMID:15951834
RGD:5688155
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2
C-C motif chemokine receptor 2
IMP
RGD
PMID:10946288
RGD:8661731
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Icam1
intercellular adhesion molecule 1
IEP
RGD
PMID:7743671
RGD:8547590
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Il1a
interleukin 1 alpha
IEP
RGD
PMID:8699818
RGD:7794730
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Mbl2
mannose-binding lectin (protein C) 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 chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Tlr9
toll-like receptor 9
susceptibility
ISO IMP
DNA:SNP:promoter:g.-1237T>C rs5743836 (human)
RGD
PMID:18275280 PMID:18936185
RGD:5130863 , RGD:5130858
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
IEP
RGD
PMID:8699818
RGD:7794730
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1a
tumor necrosis factor 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 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
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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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Ifna16
interferon alpha 16
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:88,594,524...88,595,093
Ensembl chr 4:88,594,152...88,595,161
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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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 chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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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 chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Klrk1
killer cell lectin-like receptor subfamily K, member 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827
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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 chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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Myd88
myeloid differentiation primary response gene 88
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:166,024,119...166,047,325
Ensembl chr X:166,025,692...166,047,325
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf18
tumor necrosis factor receptor superfamily, member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352
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Ager
advanced glycosylation end product-specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Ccl19
C-C motif chemokine ligand 19
IEP
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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Ccr7
C-C motif chemokine receptor 7
IMP
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
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Cd209d
CD209d antigen
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555
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Cftr
cystic fibrosis transmembrane conductance regulator
severity
IMP
RGD
PMID:22135344
RGD:35673332
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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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
OMIM ClinVar CTD
PMID:25741868 PMID:29489751
NCBI chr 6:129,403,647...129,428,963
Ensembl chr 6:129,401,735...129,428,963
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Clec7a
C-type lectin domain family 7, member a
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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Crp
C-reactive protein, pentraxin-related
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Mbl1
mannose-binding lectin (protein A) 1
susceptibility
IMP
RGD
PMID:20064561
RGD:8694071
NCBI chr14:40,873,413...40,885,861
Ensembl chr14:40,873,415...40,881,558
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility
IMP
RGD
PMID:20064561
RGD:8694071
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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S100b
S100 protein, beta polypeptide, neural
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Birc2
baculoviral IAP repeat-containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065
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Birc3
baculoviral IAP repeat-containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
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Clec7a
C-type lectin domain family 7, member a
ISO
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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Il17f
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29458167 PMID:30290665 PMID:32047491 PMID:32185379 PMID:34587561 PMID:35753512 PMID:35874679 More...
NCBI chr 1:20,847,370...20,855,498
Ensembl chr 1:20,847,370...20,860,841
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E130307A14Rik
RIKEN cDNA E130307A14 gene
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr10:39,497,407...39,608,003
Ensembl chr10:39,497,408...39,608,683
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Traf3ip2
TRAF3 interacting protein 2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr10:39,488,930...39,531,303
Ensembl chr10:39,488,930...39,531,303
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Brk1
BRICK1, SCAR/WAVE actin-nucleating complex subunit
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912
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Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721
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Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304
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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 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613
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Fancd2
Fanconi anemia, complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978
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Fancd2os
Fancd2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676
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Il17rc
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101
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Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719
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Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190
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Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
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Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
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Ifng
interferon gamma
treatment
IDA
RGD
PMID:29481557
RGD:14975102
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Clec7a
C-type lectin domain family 7, member a
ISO
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
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Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis | ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:16670328 PMID:18802100 PMID:21178015 PMID:21350122 PMID:24033266 PMID:25741868 PMID:27930337 PMID:28492532 More...
NCBI chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
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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 chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115
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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 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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Cat
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccr1
C-C motif chemokine receptor 1
IEP
RGD
PMID:12874303
RGD:5688168
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2
C-C motif chemokine receptor 2
IEP
mRNA:increased expression:foot, lymph node
RGD
PMID:12874303
RGD:5688168
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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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 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd163
CD163 antigen
ISO
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human)
RGD
PMID:32023254
RGD:127345130
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd274
CD274 antigen
IMP
RGD
PMID:16358363
RGD:41410801
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Col1a1
collagen, type I, alpha 1
ISO
DNA:SNPs: :rs1061237, rs2586488 (human)
RGD
PMID:25562121
RGD:11041176
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Ifng
interferon gamma
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013
RGD:40890273
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il13
interleukin 13
treatment
IEP
RGD
PMID:12739821 PMID:18924210
RGD:8549536 , RGD:8549561
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il17a
interleukin 17A
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il23a
interleukin 23, alpha subunit p19
IMP
RGD
PMID:29078003
RGD:39457938
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Klrk1
killer cell lectin-like receptor subfamily K, member 1
treatment
IMP
associated with lymphocytic choriomeningitis
RGD
PMID:26290604
RGD:39128165
NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827
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Lta
lymphotoxin A
no_association
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:16950634
RGD:8548800
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Ltb
lymphotoxin B
IMP
RGD
PMID:17911622
RGD:8548820
NCBI chr17:35,413,483...35,415,281
Ensembl chr17:35,413,415...35,415,296
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Mmp2
matrix metallopeptidase 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21091666 PMID:21091666
RGD:8657030
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Pdcd1lg2
programmed cell death 1 ligand 2
IMP
RGD
PMID:16358363
RGD:41410801
NCBI chr19:29,388,319...29,450,327
Ensembl chr19:29,388,319...29,448,561
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
IMP
RGD
PMID:27999013
RGD:40890273
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
ISO
DNA:insertion/deletion (human)
RGD
PMID:20089160
RGD:5684930
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Sod1
superoxide dismutase 1, soluble
ISO
protein:increased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Stat4
signal transducer and activator of transcription 4
IMP
RGD
PMID:10458767
RGD:8661703
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Tlr2
toll-like receptor 2
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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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 chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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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 chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Tmc6
transmembrane channel-like gene family 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 PMID:36268689 More...
NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
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Tmc8
transmembrane channel-like gene family 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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Tnrc6c
trinucleotide repeat containing 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr11:117,544,529...117,654,265
Ensembl chr11:117,545,115...117,654,265
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Tmc6
transmembrane channel-like gene family 6
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition
ClinVar OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
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Tmc8
transmembrane channel-like gene family 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 chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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Tmc6
transmembrane channel-like gene family 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
G
Tmc8
transmembrane channel-like gene family 8
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
OMIM ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
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Cib1
calcium and integrin binding 1
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
OMIM ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 7:79,876,904...79,882,367
Ensembl chr 7:79,876,895...79,882,561
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Rhoh
ras homolog family member H
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4
OMIM ClinVar
PMID:22850876 PMID:25741868 PMID:28492532
NCBI chr 5:66,018,092...66,054,043
Ensembl chr 5:66,018,556...66,054,043
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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 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
DNA:SNP:promoter:g.-251T>A (human)
RGD
PMID:17709521
RGD:150523787
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Tlr2
toll-like receptor 2
IEP
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
IEP
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Ncstn
nicastrin
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 PMID:26463457 PMID:28492532 PMID:32926179 More...
NCBI chr 1:171,893,580...171,910,356
Ensembl chr 1:171,893,580...171,910,362
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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 7:30,261,290...30,263,052
Ensembl chr 7:30,261,288...30,263,052
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Psen1
presenilin 1
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 3
OMIM ClinVar
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:12433263 PMID:12549925 PMID:14769392 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20929727 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:34389718 PMID:35645353 PMID:35949106 More...
NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973
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Ncstn
nicastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 1:171,893,580...171,910,356
Ensembl chr 1:171,893,580...171,910,362
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973
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Psenen
presenilin enhancer gamma secretase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 7:30,261,290...30,263,052
Ensembl chr 7:30,261,288...30,263,052
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a
nonagouti
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932
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Ccl5
C-C motif chemokine ligand 5
IDA
RGD
PMID:12502811
RGD:4890015
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Ifnar1
interferon (alpha and beta) receptor 1
exacerbates
IMP
RGD
PMID:28264883
RGD:125093738
NCBI chr16:91,281,016...91,307,411
Ensembl chr16:91,282,126...91,304,329
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Ifng
interferon gamma
IEP IMP
protein:increased expression:vaginal secretion:
RGD
PMID:10366565 PMID:10366565
RGD:8158034 , RGD:8158034
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il21
interleukin 21
treatment
IDA
RGD
PMID:24358128
RGD:127285365
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il3
interleukin 3
ISO
RNA: increased expression
RGD
PMID:21175248
RGD:5686876
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
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Irf9
interferon regulatory factor 9
exacerbates
IMP
RGD
PMID:28264883
RGD:125093738
NCBI chr14:55,841,442...55,847,487
Ensembl chr14:55,841,028...55,847,487
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ameliorates
IMP
RGD
PMID:31555293
RGD:42722615
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Rnasel
ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent)
severity
IMP
RGD
PMID:17157346
RGD:40902623
NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967
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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 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Apoe
apolipoprotein E
ISO
RGD
PMID:17101197
RGD:7771596
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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C3
complement component 3
IMP
RGD
PMID:11509581
RGD:7401276
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl2
C-C motif chemokine ligand 2
IEP
mRNA:increased expression:cornea (mouse)
RGD
PMID:9544579
RGD:8549472
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cd1d1
CD1d1 antigen
exacerbates
IMP
RGD
PMID:18614643
RGD:127345112
NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748
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Cd274
CD274 antigen
IMP
RGD
PMID:29669784
RGD:41412169
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cd40lg
CD40 ligand
IMP
RGD
PMID:11134274
RGD:8547770
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cd8a
CD8 subunit alpha
IEP
mRNA:increased expression:trigeminal ganglion (mouse)
RGD
PMID:19151393
RGD:124715454
NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
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Dock8
dedicator of cytokinesis 8
severity
IMP
RGD
PMID:25776845
RGD:11055046
NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
IMP
RGD
PMID:30050136
RGD:40902865
NCBI chr11:95,847,989...95,896,770
Ensembl chr11:95,847,989...95,896,766
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Il18
interleukin 18
treatment
IDA
RGD
PMID:9971824
RGD:8655923
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il21
interleukin 21
treatment
IMP IEP
mRNA:increased expression:spleen (mouse)
RGD
PMID:19233474 PMID:16406655
RGD:127285367 , RGD:127285372
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il33
interleukin 33
ISO IEP
protein:increased expression:skin
RGD
PMID:26872602 PMID:26872602
RGD:39939003 , RGD:39939003
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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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 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870
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Mbl1
mannose-binding lectin (protein A) 1
IEP
protein:increased expression:serum:
RGD
PMID:15498041
RGD:8693727
NCBI chr14:40,873,413...40,885,861
Ensembl chr14:40,873,415...40,881,558
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Mbl2
mannose-binding lectin (protein C) 2
susceptibility disease_progression
ISO
DNA:polymorphism:cds:
RGD
PMID:19480845 PMID:15498041 PMID:15498041
RGD:8693725 , RGD:8693727 , RGD:8693727
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Nectin1
nectin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168
NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955
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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 7:19,450,569...19,483,498
Ensembl chr 7:19,450,569...19,484,408
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Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
IMP
RGD
PMID:30050136 PMID:25316792
RGD:40902865 , RGD:127229943
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
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Rpl30
ribosomal protein L30
ISO
protein:increased serine phosphorylation:ribosome
RGD
PMID:7588575
RGD:11039399
NCBI chr15:34,440,649...34,443,405
Ensembl chr15:34,440,651...34,443,786
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Aqp4
aquaporin 4
IEP
RGD
PMID:17454447
RGD:8698664
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Calca
calcitonin/calcitonin-related polypeptide, alpha
treatment
ISO
RGD
PMID:22761571
RGD:7240516
NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
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Calcr
calcitonin receptor
treatment
ISO
RGD
PMID:22761571
RGD:7240516
NCBI chr 6:3,685,678...3,764,713
Ensembl chr 6:3,685,680...3,764,714
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Ccr2
C-C motif chemokine receptor 2
IMP
RGD
PMID:22377584
RGD:8661752
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr5
C-C motif chemokine receptor 5
IMP
RGD
PMID:23391218
RGD:8551839
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cx3cr1
C-X3-C motif chemokine receptor 1
IMP
RGD
PMID:22377584
RGD:8661752
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Gdnf
glial cell line derived neurotrophic factor
IEP
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
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Il1rl1
interleukin 1 receptor-like 1
severity
IMP
RGD
PMID:26872602
RGD:39939003
NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
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Irf3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:44,647,072...44,652,272
Ensembl chr 7:44,647,072...44,652,272
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Lta
lymphotoxin A
IMP
RGD
PMID:11145686
RGD:8548806
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Mmp2
matrix metallopeptidase 2
IDA
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
treatment
IMP IDA
protein:increased activity:brain
RGD
PMID:20483026 PMID:15364410
RGD:8547867 , RGD:8547868
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Stat4
signal transducer and activator of transcription 4
susceptibility
IMP
RGD
PMID:17266445
RGD:8661706
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Ticam1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:56,576,462...56,583,767
Ensembl chr17:56,576,319...56,583,786
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Tlr2
toll-like receptor 2
disease_progression
IMP ISO
RGD
PMID:14739339 PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:20806060
RGD:5130178
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr9
toll-like receptor 9
resistance
ISO
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Traf3
TNF receptor-associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr12:111,132,799...111,233,589
Ensembl chr12:111,132,804...111,233,587
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr19:3,985,222...3,999,340
Ensembl chr19:3,985,186...3,999,340
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Ankrd37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,449,945...46,452,904
Ensembl chr 8:46,449,939...46,458,744
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Ccdc110
coiled-coil domain containing 110
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,387,656...46,398,643
Ensembl chr 8:46,387,656...46,397,182
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Cfap96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477
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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:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,615,515...46,648,627
Ensembl chr 8:46,604,808...46,648,627
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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:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:45,758,838...45,786,200
Ensembl chr 8:45,757,981...45,786,253
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F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068
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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:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:45,789,752...45,835,328
Ensembl chr 8:45,789,754...45,835,328
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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Klkb1
kallikrein B, plasma 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896
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Lrp2bp
Lrp2 binding protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,463,639...46,482,515
Ensembl chr 8:46,452,340...46,482,514
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Mtnr1a
melatonin receptor 1A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:45,522,144...45,542,270
Ensembl chr 8:45,522,174...45,541,543
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Pdlim3
PDZ and LIM domain 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,338,524...46,372,672
Ensembl chr 8:46,338,498...46,372,585
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Slc25a4
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,660,205...46,664,099
Ensembl chr 8:46,659,834...46,664,321
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Snx25
sorting nexin 25
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,486,298...46,605,535
Ensembl chr 8:46,486,298...46,605,196
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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:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:45,960,470...46,280,943
Ensembl chr 8:45,960,825...46,280,943
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Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 More...
NCBI chr10:121,382,360...121,422,699
Ensembl chr10:121,382,360...121,422,692
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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:15042513 PMID:16199547 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:19763152 PMID:20307669 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:22406018 PMID:24033266 PMID:25118264 PMID:25339207 PMID:25629076 PMID:25741868 PMID:26193622 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 8:46,428,551...46,449,995
Ensembl chr 8:46,428,565...46,449,995
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Unc93b1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr19:3,985,222...3,999,340
Ensembl chr19:3,985,186...3,999,340
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A530016L24Rik
RIKEN cDNA A530016L24 gene
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,455,829...112,466,362
Ensembl chr12:112,455,882...112,466,361
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Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,586,481...112,607,789
Ensembl chr12:112,586,479...112,607,794
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Ahnak2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,738,631...112,766,278
Ensembl chr12:112,738,628...112,766,277
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Akt1
thymoma viral proto-oncogene 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Amn
amnionless
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
G
Ankrd9
ankyrin repeat domain 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:110,942,854...110,945,516
Ensembl chr12:110,941,787...110,945,474
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Aspg
asparaginase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,073,117...112,094,007
Ensembl chr12:112,073,113...112,093,993
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Atp5mj
ATP synthase membrane subunit j
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,927,808...111,933,443
Ensembl chr12:111,927,809...111,933,411
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Bag5
BCL2-associated athanogene 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,675,922...111,679,690
Ensembl chr12:111,675,922...111,679,691
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Brf1
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324
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Btbd6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,937,880...112,943,113
Ensembl chr12:112,940,102...112,942,565
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Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,259,406...111,347,985
Ensembl chr12:111,259,410...111,344,152
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Cdca4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,783,849...112,793,141
Ensembl chr12:112,783,849...112,793,043
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Cep170b
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,687,950...112,713,026
Ensembl chr12:112,686,889...112,713,026
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Cinp
cyclin dependent kinase 2 interacting protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:110,839,044...110,855,579
Ensembl chr12:110,839,044...110,855,579
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Ckb
creatine kinase, brain
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,635,789...111,638,772
Ensembl chr12:111,635,795...111,638,772
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Clba1
clathrin binding box of aftiphilin containing 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,772,595...112,779,865
Ensembl chr12:112,772,557...112,779,872
G
Coa8
cytochrome c oxidase assembly factor 8
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,679,394...111,721,491
Ensembl chr12:111,679,695...111,721,487
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379
G
Eif5
eukaryotic translation initiation factor 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,504,535...111,513,187
Ensembl chr12:111,504,450...111,513,186
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Exoc3l4
exocyst complex component 3-like 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,383,864...111,398,114
Ensembl chr12:111,383,451...111,398,112
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Gpr132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,814,493...112,832,035
Ensembl chr12:112,814,493...112,831,848
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Hsp90aa1
heat shock protein 90, alpha (cytosolic), class A member 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:110,657,470...110,662,829
Ensembl chr12:110,657,039...110,669,162
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Inf2
inverted formin, FH2 and WH2 domain containing
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991
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Jag2
jagged 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396
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Kif26a
kinesin family member 26A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,109,378...112,148,181
Ensembl chr12:112,112,642...112,148,181
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Klc1
kinesin light chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,724,869...111,774,278
Ensembl chr12:111,725,283...111,774,278
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Mark3
MAP/microtubule affinity regulating kinase 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,540,929...111,622,661
Ensembl chr12:111,540,957...111,622,655
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Mok
MOK protein kinase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:110,770,404...110,807,391
Ensembl chr12:110,774,232...110,807,373
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Nudt14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,897,911...112,905,762
Ensembl chr12:112,897,911...112,905,744
G
Pacs2
phosphofurin acidic cluster sorting protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,977,998...113,038,021
Ensembl chr12:112,978,128...113,038,021
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Pld4
phospholipase D family member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,727,089...112,735,420
Ensembl chr12:112,727,089...112,735,424
G
Ppp1r13b
protein phosphatase 1, regulatory subunit 13B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,794,892...111,874,549
Ensembl chr12:111,794,891...111,874,544
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 chr12:110,413,532...110,549,509
Ensembl chr12:110,413,554...110,549,496
G
Rcor1
REST corepressor 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,005,801...111,082,336
Ensembl chr12:111,005,785...111,082,335
G
Rd3l
retinal degeneration 3-like
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,945,625...111,947,751
Ensembl chr12:111,945,545...111,947,751
G
Siva1
SIVA1, apoptosis-inducing factor
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,611,262...112,615,586
Ensembl chr12:112,611,113...112,615,583
G
Tdrd9
tudor domain containing 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,937,922...112,035,288
Ensembl chr12:111,937,993...112,035,288
G
Tecpr2
tectonin beta-propeller repeat containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:110,855,681...110,938,828
Ensembl chr12:110,855,698...110,938,828
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Tmem179
transmembrane protein 179
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,466,618...112,477,594
Ensembl chr12:112,466,623...112,483,181
G
Tnfaip2
tumor necrosis factor, alpha-induced protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,408,898...111,421,452
Ensembl chr12:111,408,903...111,421,452
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Traf3
TNF receptor-associated factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 More...
NCBI chr12:111,132,799...111,233,589
Ensembl chr12:111,132,804...111,233,587
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Trmt61a
tRNA methyltransferase 61A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,644,539...111,650,336
Ensembl chr12:111,644,539...111,650,336
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Wdr20
WD repeat domain 20
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:110,701,459...110,770,709
Ensembl chr12:110,704,378...110,770,672
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Xrcc3
X-ray repair complementing defective repair in Chinese hamster cells 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307
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Zbtb42
zinc finger and BTB domain containing 42
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181
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Zfp839
zinc finger protein 839
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:110,816,686...110,838,346
Ensembl chr12:110,816,687...110,836,430
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Zfyve21
zinc finger, FYVE domain containing 21
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr12:111,780,600...111,794,822
Ensembl chr12:111,780,604...111,798,626
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Ticam1
TIR domain containing adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
OMIM ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr17:56,576,462...56,583,767
Ensembl chr17:56,576,319...56,583,786
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Irf3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 7:44,647,072...44,652,272
Ensembl chr 7:44,647,072...44,652,272
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:18515564
RGD:7771550
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Atm
ataxia telangiectasia mutated
ameliorates
IMP
RGD
PMID:24370835
RGD:126781690
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Ccl2
C-C motif chemokine ligand 2
severity
IMP
associated with Herpes Simplex, Type 1
RGD
PMID:16997857
RGD:8548890
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
IEP
RGD
PMID:15287366
RGD:7483593
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccr5
C-C motif chemokine receptor 5
IMP
RGD
PMID:18798077 PMID:16476970
RGD:8551819 , RGD:8551837
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Ccr6
C-C motif chemokine receptor 6
IEP
RGD
PMID:15287366
RGD:7483593
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Cd274
CD274 antigen
IMP
RGD
PMID:16253242
RGD:41410794
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cxcr3
C-X-C motif chemokine receptor 3
IMP
RGD
PMID:18798077
RGD:8551819
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
treatment
IMP
RGD
PMID:15670795
RGD:40902819
NCBI chr17:79,157,933...79,190,001
Ensembl chr17:79,159,993...79,190,002
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Ifnb1
interferon beta 1, fibroblast
treatment
IMP
RGD
PMID:15670795
RGD:40902819
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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Ifng
interferon gamma
IMP
RGD
PMID:12162877
RGD:8157603
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10
interleukin 10
treatment
IDA
RGD
PMID:22467659
RGD:7364834
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il1b
interleukin 1 beta
IEP
mRNA:increased expression:cornea
RGD
PMID:10624423
RGD:7401196
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:15258192
RGD:8549793
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il21
interleukin 21
treatment
IMP
RGD
PMID:29370719 PMID:21204603
RGD:127285376 , RGD:127285545
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il23a
interleukin 23, alpha subunit p19
IEP
mRNA;increased expression:trigeminal ganglion (mouse)
RGD
PMID:12162874
RGD:39457946
NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
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Kdr
kinase insert domain protein receptor
treatment
IEP IDA
protein:increased expression:cornea:
RGD
PMID:16951377 PMID:16951377
RGD:8549742 , RGD:8549742
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Rnasel
ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent)
treatment
IMP
RGD
PMID:15670795
RGD:40902819
NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967
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Stat4
signal transducer and activator of transcription 4
susceptibility
IMP
RGD
PMID:17266445
RGD:8661706
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:17686871
RGD:7794851
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
IMP ISO
mRNA:increased expression:cornea:
RGD
PMID:17686871 PMID:17667620
RGD:7794851 , RGD:8552970
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr9
toll-like receptor 9
IMP
RGD
PMID:17686871
RGD:7794851
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Tnf
tumor necrosis factor
IEP IMP
mRNA:increased expression:cornea
RGD
PMID:10624423 PMID:12162877
RGD:7401196 , RGD:8157603
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Cd163
CD163 antigen
ISO
protein:increased expression:dermis (human)
RGD
PMID:29603182
RGD:127285799
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
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Il17d
interleukin 17D
sexual_dimorphism
ISO
mRNA:increased expression:apocrine gland (human)
RGD
PMID:32031713
RGD:40903066
NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623
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Lcn2
lipocalin 2
disease_progression
ISO
RGD
PMID:28256718
RGD:126781708
NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
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Mefv
Mediterranean fever
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism,haplotype:promoter:-238G>A(human)
RGD
PMID:23106544
RGD:7777155
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Card9
caspase recruitment domain family, member 9
susceptibility
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
OMIM ClinVar
PMID:9536098 PMID:9835960 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:28842327 PMID:29080677 PMID:29307770 PMID:29890237 PMID:30136218 PMID:30429846 PMID:30537277 PMID:30809743 PMID:30837984 PMID:31102464 PMID:31414217 PMID:31469433 PMID:32888943 PMID:33414972 PMID:33558980 PMID:33872781 PMID:34234782 PMID:35628702 PMID:35727133 More...
NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930
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Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328
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Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215
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Pmpca
peptidase (mitochondrial processing) alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134
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Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665
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Cd28
CD28 antigen
ISO
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis
OMIM ClinVar
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
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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: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26513235 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:28753426 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:31677808 PMID:32582194 PMID:32888943 PMID:33679782 More...
NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
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2510002D24Rik
RIKEN cDNA 2510002D24 gene
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,655,263...18,658,910
Ensembl chr16:18,655,328...18,658,910
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Arvcf
armadillo repeat gene deleted in velocardiofacial syndrome
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826
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Atp6v1e1
ATPase, H+ transporting, lysosomal V1 subunit E1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,772,205...120,799,659
Ensembl chr 6:120,771,266...120,799,754
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Bcl2l13
BCL2 like 13
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,813,167...120,869,803
Ensembl chr 6:120,813,173...120,869,803
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Bid
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,870,080...120,894,074
Ensembl chr 6:120,868,891...120,893,814
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737
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Cecr2
CECR2, histone acetyl-lysine reader
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,643,275...120,748,152
Ensembl chr 6:120,643,330...120,748,151
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,658,219...17,709,592
Ensembl chr16:17,657,346...17,716,426
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Dgcr6
DiGeorge syndrome critical region gene 6
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,870,736...17,889,497
Ensembl chr16:17,870,724...17,889,496
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Ess2
ess-2 splicing factor
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,718,573...17,729,225
Ensembl chr16:17,718,573...17,729,212
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Gnb1l
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429
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Gp1bb
glycoprotein Ib, beta polypeptide
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153
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Gsc2
goosecoid homebox 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,730,978...17,732,891
Ensembl chr16:17,730,971...17,732,923
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Hdhd5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,486,453...120,508,319
Ensembl chr 6:120,486,455...120,508,280
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059
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Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:24552284 PMID:24552285 PMID:25741868 PMID:26607704 PMID:26871944 PMID:27930337 PMID:28492532 More...
NCBI chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
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Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,908,507...121,150,716
Ensembl chr 6:120,908,668...121,107,959
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,690,767...18,695,875
Ensembl chr16:18,690,768...18,695,612
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Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796
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Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,889,593...17,907,147
Ensembl chr16:17,878,221...17,908,067
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704
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Slc25a1
solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083
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Slc25a18
solute carrier family 25 (mitochondrial carrier), member 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,750,527...120,771,297
Ensembl chr 6:120,750,539...120,771,297
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Tango2
transport and golgi organization 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967
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Tbx1
T-box 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
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Tmem121b
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:120,465,900...120,470,907
Ensembl chr 6:120,465,900...120,470,768
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Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:17,716,501...17,717,888
Ensembl chr16:17,716,501...17,717,888
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:121,187,666...121,209,304
Ensembl chr 6:121,187,655...121,203,813
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823
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Ufd1
ubiquitin recognition factor in ER-associated degradation 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr16:18,630,486...18,654,011
Ensembl chr16:18,630,529...18,654,011
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Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 6:121,222,865...121,247,876
Ensembl chr 6:121,222,865...121,247,876
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Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections
ClinVar OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
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Ager
advanced glycosylation end product-specific receptor
IMP
RGD
PMID:21423669
RGD:5508765
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Ccl2
C-C motif chemokine ligand 2
severity
IMP
RGD
PMID:11160230
RGD:11528533
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20
C-C motif chemokine ligand 20
IEP
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccr6
C-C motif chemokine receptor 6
disease_progression
IMP
RGD
PMID:17379855
RGD:7483617
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cybb
cytochrome b-245, beta polypeptide
IMP
RGD
PMID:24054721
RGD:10450528
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Elane
elastase, neutrophil expressed
IMP
RGD
PMID:24054721
RGD:10450528
NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
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Il17a
interleukin 17A
severity
IMP
RGD
PMID:21807912
RGD:8698654
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Mbl2
mannose-binding lectin (protein C) 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Ptx3
pentraxin related gene
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 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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S100b
S100 protein, beta polypeptide, neural
IMP
RGD
PMID:21423669
RGD:5508765
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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Tlr2
toll-like receptor 2
IMP
RGD
PMID:16113258
RGD:8553022
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:12917249
RGD:11528529
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Itih4
inter alpha-trypsin inhibitor, heavy chain 4
ISO
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310
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Mbl2
mannose-binding lectin (protein C) 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Ptx3
pentraxin related gene
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 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Ager
advanced glycosylation end product-specific receptor
IEP
protein:increased expression:brain
RGD
PMID:25014011
RGD:8695986
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Arg1
arginase, liver
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21232540
NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382
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Btk
Bruton agammaglobulinemia tyrosine kinase
susceptibility
IMP
RGD
PMID:28783468
RGD:124715477
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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C3
complement component 3
IMP
RGD
PMID:15378355
RGD:7401274
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccr2
C-C motif chemokine receptor 2
IMP
RGD
PMID:10899907
RGD:8661227
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr5
C-C motif chemokine receptor 5
disease_progression
IMP ISO
associated with HIV Infections;protein:increased expression:blood, T cell
RGD
PMID:10553079 PMID:17457607
RGD:8551832 , RGD:8551841
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218153
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Dusp1
dual specificity phosphatase 1
treatment
IMP
RGD
PMID:21471446
RGD:7771536
NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
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Dusp6
dual specificity phosphatase 6
treatment
IMP
RGD
PMID:21471446
RGD:7771536
NCBI chr10:99,098,676...99,103,351
Ensembl chr10:99,099,093...99,103,351
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16540374 PMID:17218153 PMID:2145107
RGD:7829781
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:20404924
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il18
interleukin 18
treatment
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16879623 PMID:10768930
RGD:8655909
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il2
interleukin 2
IDA
RGD
PMID:6224858
RGD:8693326
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il21
interleukin 21
exacerbates
IEP
protein:increased expression:popliteal lymph node (mouse)
RGD
PMID:22429963
RGD:127285547
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il27
interleukin 27
exacerbates
IMP
RGD
PMID:25466588
RGD:126790552
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il4
interleukin 4
treatment
ISO IMP
protein:increased expression:serum
RGD
PMID:2145107 PMID:2521244
RGD:7829781 , RGD:7829820
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Itgb2
integrin beta 2
ameliorates
IMP
RGD
PMID:14502280
RGD:127285813
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Mcl1
myeloid cell leukemia sequence 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670606
NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487
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Slc6a4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
ISO
lupoid leishmaniasis;protein:increased expression:skin of body (human)
RGD
PMID:23989888
RGD:36947873
NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf18
tumor necrosis factor receptor superfamily, member 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20139272
NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352
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Tnfsf4
tumor necrosis factor (ligand) superfamily, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10637281
NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981
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Trem1
triggering receptor expressed on myeloid cells 1
severity
IMP
RGD
PMID:24453980
RGD:126925972
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
IMP
RGD
PMID:17551101
RGD:8158083
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29253318
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7854095
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Lta
lymphotoxin A
ISO
DNA:polymorphism:intron
RGD
PMID:7595196
RGD:8548799
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:7595196
RGD:8548799
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Il1r1
interleukin 1 receptor, type I
IMP
RGD
PMID:19168746
RGD:8662882
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Tlr4
toll-like receptor 4
IMP
RGD
PMID:11884755
RGD:7794682
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103;
RGD
PMID:22117902
RGD:8547660
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Pa
histocompatibility 2, P region alpha locus
ISO
RGD
PMID:8854084
RGD:6480649
NCBI chr17:34,303,587...34,304,826
Ensembl chr17:34,303,575...34,304,797
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Il13
interleukin 13
severity
ISO
protein:increased expression:serum
RGD
PMID:22805723
RGD:8549600
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Ccr5
C-C motif chemokine receptor 5
IMP
RGD
PMID:18292527
RGD:4892087
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd28
CD28 antigen
IMP
RGD
PMID:20713624
RGD:5131616
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
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H2-Eb1
histocompatibility 2, class II antigen E beta
severity
ISO
DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human)
RGD
PMID:17325942
RGD:5147631
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Icam1
intercellular adhesion molecule 1
IMP
RGD
PMID:17003484
RGD:8547589
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ido1
indoleamine 2,3-dioxygenase 1
IEP
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
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Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Mmp2
matrix metallopeptidase 2
IDA
RGD
PMID:19765107
RGD:8657058
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
IDA
RGD
PMID:19765107
RGD:8657058
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Ptx3
pentraxin related gene
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
G
H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Cat
catalase
treatment
ISO
RGD
PMID:17884035
RGD:9479747
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Clu
clusterin
IEP
RGD
PMID:11085517
RGD:8746700
NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
G
Fgf10
fibroblast growth factor 10
IEP
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651
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Mir21a
microRNA 21a
ameliorates
IMP
RGD
PMID:21646541
RGD:41404663
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
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Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Irf1
interferon regulatory factor 1
treatment
ISO
DNA:SNPs,haplotype: :rs839, rs9282763(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:SNP:exon:rs1801133(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Ada
adenosine deaminase
ISO
protein:altered activity:serum,lymphocyte
RGD
PMID:22169893
RGD:152995407
NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
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Tlr4
toll-like receptor 4
IMP
RGD
PMID:19740386
RGD:7794681
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Il17a
interleukin 17A
IMP
RGD
PMID:24614654
RGD:9068425
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
treatment
IDA
RGD
PMID:21536791
RGD:8655921
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il33
interleukin 33
treatment
IEP IDA
mRNA,protein:increased expression:skin
RGD
PMID:23892028 PMID:23892028
RGD:40400893 , RGD:40400893
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
IMP
RGD
PMID:27524612
RGD:127229915
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
severity
IMP
RGD
PMID:25515118
RGD:36174009
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Il18
interleukin 18
treatment
IDA
RGD
PMID:16129701
RGD:8655932
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il5
interleukin 5
severity
IMP
RGD
PMID:9824515
RGD:11354934
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Il1a
interleukin 1 alpha
IEP
RGD
PMID:7835923
RGD:7794724
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Ccl11
C-C motif chemokine ligand 11
IEP
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:16168564
RGD:7248410
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Il4
interleukin 4
treatment
ISO
RGD
PMID:26732352
RGD:11534298
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Olig2
oligodendrocyte transcription factor 2
IEP
RGD
PMID:25773181
RGD:40902825
NCBI chr16:91,016,745...91,025,567
Ensembl chr16:91,022,345...91,025,565
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Aicda
activation-induced cytidine deaminase
IMP IEP
mRNA:altered expression:Bcell,CD4Tcell
RGD
PMID:31001826 PMID:31001826
RGD:32716386 , RGD:32716386
NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
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Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21991751
RGD:5683905
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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Ccr2
C-C motif chemokine receptor 2
IEP IMP
associated with Malnutrition;mRNA:increased expression:lymph node,spleen:
RGD
PMID:24818662 PMID:24818662
RGD:8661728 , RGD:8661728
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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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 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Ccr5
C-C motif chemokine receptor 5
treatment
IMP
RGD
PMID:24617012
RGD:14401738
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd163
CD163 antigen
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd40
CD40 antigen
treatment
IMP
RGD
PMID:14573667
RGD:8547750
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
IMP
RGD
PMID:14573667
RGD:8547750
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17404324 PMID:8035028
RGD:10449527
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Cxcl10
C-X-C motif chemokine ligand 10
IEP
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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Cxcl15
C-X-C motif chemokine ligand 15
treatment susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:g.-251A>T (human)
CTD RGD
PMID:22461696 PMID:32984951 PMID:25821028
RGD:150523791 , RGD:150523789
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:enhancer: (rs9271858) (human)
CTD RGD
PMID:23291585 PMID:23291585
RGD:127285406
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461696 PMID:23729024
RGD:42724459
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Ifng
interferon gamma
treatment
IDA IEP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013
RGD:8158041 , RGD:40890273
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il10ra
interleukin 10 receptor, alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447
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Il18
interleukin 18
susceptibility
IMP
RGD
PMID:16879623
RGD:8655922
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il27
interleukin 27
IEP
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il2rb
interleukin 2 receptor, beta chain
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Irf5
interferon regulatory factor 5
IMP IEP
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:32038622 PMID:30067973
RGD:40924560 , RGD:40924629
NCBI chr 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870
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Lta
lymphotoxin A
severity
ISO IMP
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Ltb
lymphotoxin B
IMP
RGD
PMID:12115620
RGD:8548822
NCBI chr17:35,413,483...35,415,281
Ensembl chr17:35,413,415...35,415,296
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Mbl2
mannose-binding lectin (protein C) 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 chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Mir155
microRNA 155
IMP
RGD
PMID:31182615
RGD:21081525
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir21a
microRNA 21a
treatment
IEP
RGD
PMID:31608064
RGD:40925951
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
IMP
RGD
PMID:27999013
RGD:40890273
NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
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Slc11a1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
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Stat4
signal transducer and activator of transcription 4
IMP
RGD
PMID:24242758
RGD:8661696
NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
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Tlr2
toll-like receptor 2
disease_progression
IMP
RGD
PMID:23589575
RGD:15090808
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tnf
tumor necrosis factor
severity
ISO IMP
DNA:polymorphisms CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Cxcr4
C-X-C motif chemokine receptor 4
ISO IAGP
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 OMIM:193670 CTD Direct Evidence: marker/mechanism DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
OMIM ClinVar MouseDO CTD 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:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:35947323 PMID:36089616 PMID:12692554 More...
RGD:734860
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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