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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Infectious Skin Diseases
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Accession:DOID:9000859 term browser 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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allergic bronchopulmonary aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO DNA: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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Autoinflammatory Disease, Familial, Behcet-Like-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
Candidiasis, Familial, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Candidiasis, Familial, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17f interleukin 17F ISO ClinVar Annotator: match by term: Candidiasis, familial, 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 1:20,847,370...20,855,498
Ensembl chr 1:20,847,370...20,860,841
JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr10:39,497,407...39,608,003
Ensembl chr10:39,497,408...39,608,683
JBrowse link
G 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 More... NCBI chr10:39,488,930...39,531,303
Ensembl chr10:39,488,930...39,531,303
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
cellulitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
chromoblastomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
chronic mucocutaneous candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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 More... NCBI chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
JBrowse link
cutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
eczema herpeticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
JBrowse link
G 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 More... NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
JBrowse link
G 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
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024
JBrowse link
G 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 More... NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
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 More... NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 7:79,876,904...79,882,367
Ensembl chr 7:79,876,895...79,882,561
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
eumycotic mycetoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Familial Acne Inversa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:171,893,580...171,910,356
Ensembl chr 1:171,893,580...171,910,362
JBrowse link
Familial Acne Inversa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 7:30,261,290...30,263,052
Ensembl chr 7:30,261,288...30,263,052
JBrowse link
Familial Acne Inversa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973
JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Furunculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
genital herpes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
herpes simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Herpes Simplex Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Herpes Simplex Encephalitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr10:121,382,360...121,422,699
Ensembl chr10:121,382,360...121,422,692
JBrowse link
G 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 More... NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr19:3,985,222...3,999,340
Ensembl chr19:3,985,186...3,999,340
JBrowse link
Herpes Simplex Encephalitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Clba1 clathrin binding box of aftiphilin containing 1 ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr12:112,772,595...112,779,865
Ensembl chr12:112,772,557...112,779,872
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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 More... NCBI chr12:111,132,799...111,233,589
Ensembl chr12:111,132,804...111,233,587
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Herpes Simplex Encephalitis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Herpes Simplex Encephalitis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
herpes simplex virus keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Immunodeficiency 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
immunodeficiency 31C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 More... NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
JBrowse link
immunodeficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Immunodeficiency 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
JBrowse link
invasive aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
mite infestation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
molluscum contagiosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
mucocutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Ocular Onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
paracoccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
pulmonary aspergilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
rhinoscleroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
scabies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G Clu clusterin IEP RGD PMID:11085517 RGD:8746700 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
smallpox term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
sporotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
Staphylococcal Skin Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
strongyloidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
tick infestation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Toxocara Canis Infection (Canine Roundworms) term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
toxocariasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
visceral leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
WHIM syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... RGD:734860 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16188
    sensory system disease 7052
      skin disease 4046
        Infectious Skin Diseases 290
          Bacterial Skin Diseases + 24
          Parasitic Skin Diseases + 72
          Viral Skin Diseases + 158
          cellulitis + 14
          dermatomycosis + 98
          paronychia 0
Path 2
Term Annotations click to browse term
  disease 16188
    disease of anatomical entity 15805
      nervous system disease 13700
        Neurologic Manifestations 10082
          sensory system disease 7052
            skin disease 4046
              Infectious Skin Diseases 290
                Bacterial Skin Diseases + 24
                Parasitic Skin Diseases + 72
                Viral Skin Diseases + 158
                cellulitis + 14
                dermatomycosis + 98
                paronychia 0
paths to the root