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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 IEP associated with Cystic Fibrosis RGD PMID:17898016 RGD:4145612 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) RGD PMID:23278646 RGD:36049760 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP associated with cystic fibrosis; DNA:polymorphisms: : RGD PMID:23278646 RGD:36049760 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP 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 chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G TLR9 toll like receptor 9 susceptibility ISO
IAGP
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) RGD PMID:18936185 PMID:18275280 RGD:5130858, RGD:5130863 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A susceptibility IAGP DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) RGD PMID:20646338 RGD:5131174 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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 IEP protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CD8A CD8 subunit alpha HEP mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G FOXP3 forkhead box P3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G IFNA6 interferon alpha 6 treatment IEP RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,350,253...21,350,956
JBrowse link
G IL10 interleukin 10 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12B interleukin 12B treatment IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL2 interleukin 2 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 IEP protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL4 interleukin 4 treatment IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KLRK1 killer cell lectin like receptor K1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment HEP mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G PDCD1 programmed cell death 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression IEP mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR3 toll like receptor 3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G TLR4 toll like receptor 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR7 toll like receptor 7 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TLR8 toll like receptor 8 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169
JBrowse link
G TLR9 toll like receptor 9 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
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 IAGP DNA:SNP:promoter:-374T>A (human) RGD PMID:22114731 RGD:8695981 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,551,081...40,565,472
JBrowse link
G CD209 CD209 molecule IMP RGD PMID:21381282 RGD:5131183 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G CFTR CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CLEC1A C-type lectin domain family 1 member A susceptibility IAGP
EXP
ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:29489751 NCBI chr12:10,069,554...10,098,985
Ensembl chr12:10,069,554...10,111,627
JBrowse link
G CLEC7A C-type lectin domain containing 7A IAGP
EXP
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 chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
JBrowse link
G CRP C-reactive protein treatment IEP RGD PMID:20879853 RGD:9495929 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G IL15 interleukin 15 IAGP DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G MBL1P mannose binding lectin 1, pseudogene susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr10:79,920,178...79,923,119
Ensembl chr10:79,920,327...79,923,032
Ensembl chr10:79,920,327...79,923,032
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G S100B S100 calcium binding protein B IAGP DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G TLR1 toll like receptor 1 susceptibility IAGP DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,787,555...38,856,817
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR6 toll like receptor 6 susceptibility IAGP DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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 RELA proto-oncogene, NF-kB subunit IAGP ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 More... NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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 IEP mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IEP mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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 containing 7A IAGP
EXP
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 chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
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 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689
JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC114803478 TRAF3IP2 eExon liver enhancer IAGP ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar PMID:22513239 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 NCBI chr 6:111,591,197...111,591,892 JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 More... NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
JBrowse link
G TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 More... NCBI chr 6:111,483,472...111,602,295
Ensembl chr 6:111,483,389...111,598,784
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190
JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255
JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413
JBrowse link
G EMC3 ER membrane protein complex subunit 3 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202
JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255
JBrowse link
G IL17RC interleukin 17 receptor C IAGP 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 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
JBrowse link
G IL17RE interleukin 17 receptor E IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402
JBrowse link
G JAGN1 jagunal homolog 1 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349
JBrowse link
G LOC129936143 ATAC-STARR-seq lymphoblastoid silent region 14050 IAGP ClinVar Annotator: match by term: IL17RC-related condition
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 3:9,932,806...9,932,865 JBrowse link
G LOC129936144 ATAC-STARR-seq lymphoblastoid silent region 14051 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,933,446...9,933,775 JBrowse link
G PRRT3 proline rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
chromoblastomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma treatment ISO RGD PMID:29481557 RGD:14975102 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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 containing 7A IAGP ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive ClinVar PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
JBrowse link
G IL17RA interleukin 17 receptor A IAGP ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
ClinVar PMID:16670328 PMID:18802100 PMID:21178015 PMID:21350122 PMID:24033266 More... NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G LOC129391259 MPRA-validated peak4440 silencer IAGP ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr22:17,105,810...17,106,010 JBrowse link
G LOC130066893 ATAC-STARR-seq lymphoblastoid silent region 13429 IAGP ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:25741868 NCBI chr22:17,084,783...17,085,002 JBrowse link
G LOC130066894 ATAC-STARR-seq lymphoblastoid silent region 13430 IAGP ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr22:17,085,023...17,085,142 JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IAGP associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) RGD PMID:31784499 RGD:150340677 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G STAT1 signal transducer and activator of transcription 1 EXP
IAGP
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 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
cutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase IEP protein:decreased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:12874303 RGD:5688168 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:foot, lymph node RGD PMID:12874303 RGD:5688168 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association IAGP DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:23632983 PMID:17214851 RGD:8549764, RGD:8549765 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD163 CD163 molecule IEP mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) RGD PMID:32023254 RGD:127345130 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:16358363 RGD:41410801 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP DNA:SNPs: :rs1061237, rs2586488 (human) RGD PMID:25562121 RGD:11041176 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G FOXP3 forkhead box P3 IEP mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G IFNG interferon gamma treatment EXP
ISO
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013 RGD:40890273 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL10 interleukin 10 EXP
IEP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:Peripheral blood mononuclear cell:
CTD
RGD
PMID:20102417 PMID:29205403 RGD:38455981 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL13 interleukin 13 treatment ISO RGD PMID:12739821 PMID:18924210 RGD:8549536, RGD:8549561 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL17A interleukin 17A IEP mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL23A interleukin 23 subunit alpha ISO RGD PMID:29078003 RGD:39457938 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
JBrowse link
G IL32 interleukin 32 susceptibility
ameliorates
IAGP
IMP
DNA:SNPs:enhancers: (rs4786370, rs4349147) (human) RGD PMID:32023240 PMID:28709468 RGD:150340717, RGD:150340742 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G IL4 interleukin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO associated with lymphocytic choriomeningitis RGD PMID:26290604 RGD:39128165 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G LTA lymphotoxin alpha no_association IAGP DNA:SNP:intron:252A>G (human) RGD PMID:16950634 RGD:8548800 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G LTB lymphotoxin beta ISO RGD PMID:17911622 RGD:8548820 NCBI chr 6:31,580,558...31,582,425
Ensembl chr 6:31,580,525...31,582,522
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21091666 PMID:21091666 RGD:8657030 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO RGD PMID:16358363 RGD:41410801 NCBI chr 9:5,510,531...5,571,282
Ensembl chr 9:5,510,531...5,571,282
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:insertion/deletion (human) RGD PMID:20089160 RGD:5684930 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SOD1 superoxide dismutase 1 IEP protein:increased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:10458767 RGD:8661703 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
G TLR2 toll like receptor 2 IEP protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR4 toll like receptor 4 IEP protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR9 toll like receptor 9 IEP protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor no_association IAGP
EXP
DNA:SNP:promoter:-308G>A (rs1800629) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20102417 PMID:16950634 RGD:8548800 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IEP associated with atopic dermatitis; protein:increased activity:serum (human) RGD PMID:26198597 RGD:11528429 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IFNG interferon gamma susceptibility IEP
IAGP
mRNA,protein:decreased expression:peripheral mononuclear cell:
DNA:haplotype::
RGD PMID:21458658 PMID:21458658 RGD:6480259, RGD:6480259 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061783 ATAC-STARR-seq lymphoblastoid active region 12855 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr17:78,121,180...78,121,239 JBrowse link
G LOC130061785 ATAC-STARR-seq lymphoblastoid active region 12857 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,122,490...78,122,639 JBrowse link
G LOC130061786 ATAC-STARR-seq lymphoblastoid silent region 9039 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,124,789...78,125,038 JBrowse link
G LOC130061792 ATAC-STARR-seq lymphoblastoid silent region 9043 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... NCBI chr17:78,131,459...78,131,978 JBrowse link
G LOC130061793 ATAC-STARR-seq lymphoblastoid silent region 9044 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr17:78,132,089...78,132,478 JBrowse link
G LOC130061795 ATAC-STARR-seq lymphoblastoid active region 12864 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 More... NCBI chr17:78,138,134...78,138,303 JBrowse link
G TMC6 transmembrane channel like 6 EXP
IAGP
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 chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
JBrowse link
G TNRC6C trinucleotide repeat containing adaptor 6C IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr17:77,957,557...78,108,835
Ensembl chr17:77,958,703...78,108,822
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061785 ATAC-STARR-seq lymphoblastoid active region 12857 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,122,490...78,122,639 JBrowse link
G LOC130061786 ATAC-STARR-seq lymphoblastoid silent region 9039 IAGP ClinVar Annotator: match by term: TMC6-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,124,789...78,125,038 JBrowse link
G LOC130061792 ATAC-STARR-seq lymphoblastoid silent region 9043 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr17:78,131,459...78,131,978 JBrowse link
G LOC130061795 ATAC-STARR-seq lymphoblastoid active region 12864 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr17:78,138,134...78,138,303 JBrowse link
G TMC6 transmembrane channel like 6 susceptibility IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
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 chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061792 ATAC-STARR-seq lymphoblastoid silent region 9043 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr17:78,131,459...78,131,978 JBrowse link
G LOC130061795 ATAC-STARR-seq lymphoblastoid active region 12864 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:25741868 NCBI chr17:78,138,134...78,138,303 JBrowse link
G TMC6 transmembrane channel like 6 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 susceptibility IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
OMIM
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 More... NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
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 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 More... NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
JBrowse link
G LOC130057907 ATAC-STARR-seq lymphoblastoid silent region 6817 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 ClinVar PMID:30068544 NCBI chr15:90,233,434...90,233,883 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 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 ClinVar
OMIM
PMID:22850876 PMID:25741868 PMID:28492532 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967
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 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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 IAGP DNA:missense mutation:cds: (rs4680) (human) RGD PMID:20184498 RGD:8662334 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IAGP DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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 IAGP ClinVar Annotator: match by term: Acne inversa, familial, 1
ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition
ClinVar
OMIM
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 More... NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
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 IAGP ClinVar Annotator: match by term: Acne inversa, familial, 2 ClinVar
OMIM
PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 More... NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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 IAGP ClinVar Annotator: match by term: Acne inversa, familial, 3 ClinVar
OMIM
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCSTN nicastrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
JBrowse link
G PSEN1 presenilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
Furunculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
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 ISO RGD PMID:12502811 RGD:4890015 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:vaginal secretion: RGD PMID:10366565 RGD:8158034 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:24358128 RGD:127285365 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL3 interleukin 3 IEP RNA: increased expression RGD PMID:21175248 RGD:5686876 NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204
JBrowse link
G IRF9 interferon regulatory factor 9 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr14:24,161,265...24,166,565
Ensembl chr14:24,161,234...24,168,043
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ameliorates ISO RGD PMID:31555293 RGD:42722615 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G RNASEL ribonuclease L severity ISO RGD PMID:17157346 RGD:40902623 NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
JBrowse link
G STAT4 signal transducer and activator of transcription 4 treatment
severity
IAGP DNA:SNP:intron:rs7572482 (human)
DNA:SNPs, haplotype: :multiple
RGD PMID:22718836 PMID:22718836 RGD:8661697, RGD:8661697 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
herpes simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IMP RGD PMID:17101197 RGD:7771596 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G C3 complement C3 ISO RGD PMID:11509581 RGD:7401276 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:cornea (mouse) RGD PMID:9544579 RGD:8549472 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD1D CD1d molecule exacerbates ISO RGD PMID:18614643 RGD:127345112 NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:29669784 RGD:41412169 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:11134274 RGD:8547770 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD8A CD8 subunit alpha ISO mRNA:increased expression:trigeminal ganglion (mouse) RGD PMID:19151393 RGD:124715454 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G DOCK8 dedicator of cytokinesis 8 severity ISO RGD PMID:25776845 RGD:11055046 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:30050136 RGD:40902865 NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:9971824 RGD:8655923 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL21 interleukin 21 treatment ISO mRNA:increased expression:spleen (mouse) RGD PMID:19233474 PMID:16406655 RGD:127285367, RGD:127285372 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL32 interleukin 32 IEP associated with human immunodeficiency virus infectious disease; protein,mRNA:decreased expression:CD4-positive��helper��T��cell��(human) RGD PMID:28007920 RGD:150340722 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G IL33 interleukin 33 IEP
ISO
protein:increased expression:skin RGD PMID:26872602 PMID:26872602 RGD:39939003, RGD:39939003 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G IRF5 interferon regulatory factor 5 susceptibility IAGP associated with multiple sclerosis;DNA:SNP: :rs3807306 (human) RGD PMID:20861862 RGD:40924643 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G MBL1P mannose binding lectin 1, pseudogene ISO protein:increased expression:serum: RGD PMID:15498041 RGD:8693727 NCBI chr10:79,920,178...79,923,119
Ensembl chr10:79,920,327...79,923,032
Ensembl chr10:79,920,327...79,923,032
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility
disease_progression
IAGP
IEP
IDA
DNA:polymorphism:cds: RGD PMID:19480845 PMID:15498041 PMID:15498041 RGD:8693725, RGD:8693727, RGD:8693727 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10729168 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10729168 PMID:11602758 PMID:30319691 NCBI chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:30050136 PMID:25316792 RGD:40902865, RGD:127229943 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G RPL30 ribosomal protein L30 IDA protein:increased serine phosphorylation:ribosome RGD PMID:7588575 RGD:11039399 NCBI chr 8:98,041,721...98,045,545
Ensembl chr 8:98,024,851...98,046,469
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 IAGP DNA:polymorphism:exon: RGD PMID:11118260 RGD:7771554 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:17454447 RGD:8698664 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G CALCA calcitonin related polypeptide alpha treatment ISO RGD PMID:22761571 RGD:7240516 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
JBrowse link
G CALCR calcitonin receptor treatment ISO RGD PMID:22761571 RGD:7240516 NCBI chr 7:93,424,486...93,574,724
Ensembl chr 7:93,424,486...93,574,730
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:22377584 RGD:8661752 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:23391218 RGD:8551839 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:22377584 RGD:8661752 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:brain: RGD PMID:15950786 RGD:8657070 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO RGD PMID:26872602 RGD:39939003 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
JBrowse link
G IRF3 interferon regulatory factor 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
JBrowse link
G LTA lymphotoxin alpha ISO RGD PMID:11145686 RGD:8548806 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity:brain RGD PMID:15364410 RGD:8547868 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased activity:brain RGD PMID:20483026 PMID:15364410 RGD:8547867, RGD:8547868 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO RGD PMID:14739339 PMID:20806060 RGD:8553026, RGD:5130178 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR3 toll like receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:20806060 RGD:5130178 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR9 toll like receptor 9 resistance ISO mRNA:increased expression:cheek (rat) RGD PMID:20806060 RGD:5130178 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TRAF3 TNF receptor associated factor 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982
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 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,396,841...185,400,723
Ensembl chr 4:185,396,021...185,400,628
JBrowse link
G CCDC110 coiled-coil domain containing 110 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,445,182...185,471,733
Ensembl chr 4:185,445,182...185,471,752
JBrowse link
G CFAP96 cilia and flagella associated protein 96 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826
JBrowse link
G CFAP97 cilia and flagella associated protein 97 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,159,665...185,210,248
Ensembl chr 4:185,159,665...185,209,504
JBrowse link
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:186,191,567...186,213,463
Ensembl chr 4:186,191,567...186,213,463
JBrowse link
G F11 coagulation factor XI IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
JBrowse link
G FAM149A family with sequence similarity 149 member A IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:186,104,704...186,175,337
Ensembl chr 4:186,104,419...186,175,337
JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
JBrowse link
G KLKB1 kallikrein B1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
JBrowse link
G LOC130006234 ATAC-STARR-seq lymphoblastoid active region 5128 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:16973841 PMID:28492532 NCBI chr11:68,003,100...68,003,149 JBrowse link
G LOC130006235 ATAC-STARR-seq lymphoblastoid silent region 3653 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr11:68,003,450...68,003,859 JBrowse link
G LRP2BP LRP2 binding protein IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,363,872...185,397,287
Ensembl chr 4:185,363,872...185,395,924
JBrowse link
G MTNR1A melatonin receptor 1A IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:186,533,655...186,555,567
Ensembl chr 4:186,526,792...186,555,567
JBrowse link
G PDLIM3 PDZ and LIM domain 3 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,500,660...185,535,507
Ensembl chr 4:185,500,660...185,535,507
JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
JBrowse link
G SNX25 sorting nexin 25 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,204,237...185,378,642
Ensembl chr 4:185,204,237...185,370,185
JBrowse link
G SORBS2 sorbin and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,585,523...185,956,372
Ensembl chr 4:185,585,444...185,956,652
JBrowse link
G TBK1 TANK binding kinase 1 IAGP ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 More... NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link
G TLR3 toll like receptor 3 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
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 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator susceptibility IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:16973841 PMID:17576681 PMID:24033266 More... NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982
JBrowse link
Herpes Simplex Encephalitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325
JBrowse link
G AHNAK2 AHNAK nucleoprotein 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,937,253...104,978,374
Ensembl chr14:104,937,244...104,978,374
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G AMN amnion associated transmembrane protein IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596
JBrowse link
G ANKRD9 ankyrin repeat domain 9 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799
JBrowse link
G ASPG asparaginase IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,085,700...104,115,582
Ensembl chr14:104,085,686...104,115,582
JBrowse link
G ATP5MJ ATP synthase membrane subunit j IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,912,288...103,921,529
Ensembl chr14:103,912,288...103,928,269
JBrowse link
G BAG5 BAG cochaperone 5 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657
JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
JBrowse link
G BTBD6 BTB domain containing 6 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:105,248,533...105,251,093
Ensembl chr14:105,248,533...105,251,093
JBrowse link
G C14orf180 chromosome 14 open reading frame 180 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,579,764...104,590,515
Ensembl chr14:104,579,764...104,590,515
JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
JBrowse link
G CDCA4 cell division cycle associated 4 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:105,009,573...105,021,083
Ensembl chr14:105,009,573...105,021,083
JBrowse link
G CEP170B centrosomal protein 170B IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,864,513...104,896,747
Ensembl chr14:104,865,268...104,896,747
JBrowse link
G CINP cyclin dependent kinase 2 interacting protein IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,348,282...102,362,890
Ensembl chr14:102,341,102...102,362,916
JBrowse link
G CKB creatine kinase B IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,519,667...103,522,830
Ensembl chr14:103,519,667...103,522,833
JBrowse link
G CLBA1 clathrin binding box of aftiphilin containing 1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,985,788...105,001,274
Ensembl chr14:104,985,775...105,010,482
JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G EIF5 eukaryotic translation initiation factor 5 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,334,237...103,345,025
Ensembl chr14:103,333,544...103,345,025
JBrowse link
G EXOC3L4 exocyst complex component 3 like 4 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,094,174...103,110,559
Ensembl chr14:103,094,725...103,110,559
JBrowse link
G GPR132 G protein-coupled receptor 132 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:105,049,395...105,065,430
Ensembl chr14:105,049,395...105,065,445
JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535
JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824
JBrowse link
G KIF26A kinesin family member 26A IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894
JBrowse link
G KLC1 kinesin light chain 1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249
JBrowse link
G LOC126862065 BRD4-independent group 4 enhancer GRCh37_chr14:103352003-103353202 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,885,666...102,886,865 JBrowse link
G LOC130056550 ATAC-STARR-seq lymphoblastoid active region 9091 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,901,504...102,901,933 JBrowse link
G LOC130056551 ATAC-STARR-seq lymphoblastoid active region 9092 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,916,710...102,916,849 JBrowse link
G LOC130056552 ATAC-STARR-seq lymphoblastoid silent region 6134 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,922,887...102,923,086 JBrowse link
G LOC130056553 ATAC-STARR-seq lymphoblastoid silent region 6135 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,928,299...102,928,488 JBrowse link
G LOC130056554 ATAC-STARR-seq lymphoblastoid silent region 6136 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,930,018...102,930,277 JBrowse link
G MARK3 microtubule affinity regulating kinase 3 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,385,415...103,503,831
Ensembl chr14:103,385,377...103,503,831
JBrowse link
G MIR203A microRNA 203a IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,117,405...104,117,514
Ensembl chr14:104,117,405...104,117,514
JBrowse link
G MOK MOK protein kinase IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,214,596...102,305,164
Ensembl chr14:102,224,500...102,305,190
JBrowse link
G NUDT14 nudix hydrolase 14 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:105,172,939...105,181,312
Ensembl chr14:105,172,938...105,181,323
JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
JBrowse link
G PLD4 phospholipase D family member 4 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761
JBrowse link
G PPP1R13B protein phosphatase 1 regulatory subunit 13B IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,733,195...103,848,814
Ensembl chr14:103,733,195...103,847,575
JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:101,760,573...101,927,992
Ensembl chr14:101,761,709...101,927,989
JBrowse link
G RCOR1 REST corepressor 1 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,592,649...102,730,561
Ensembl chr14:102,592,649...102,730,561
JBrowse link
G RD3L RD3 like IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,940,426...103,942,529
Ensembl chr14:103,940,426...103,942,561
JBrowse link
G SIVA1 SIVA1 apoptosis inducing factor IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,753,147...104,759,654
Ensembl chr14:104,753,147...104,768,494
JBrowse link
G TDRD9 tudor domain containing 9 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
JBrowse link
G TMEM179 transmembrane protein 179 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,590,864...104,604,772
Ensembl chr14:104,474,678...104,605,647
JBrowse link
G TNFAIP2 TNF alpha induced protein 2 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,121,469...103,137,439
Ensembl chr14:103,121,476...103,137,439
JBrowse link
G TRAF3 TNF receptor associated factor 3 susceptibility IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3-related condition
ClinVar Annotator: match by term: TRAF3 haploinsufficiency
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31681265 More... NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
JBrowse link
G TRMT61A tRNA methyltransferase 61A IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,529,196...103,537,073
Ensembl chr14:103,529,196...103,537,073
JBrowse link
G WDR20 WD repeat domain 20 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,139,423...102,224,839
Ensembl chr14:102,139,503...102,224,847
JBrowse link
G XRCC3 X-ray repair cross complementing 3 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
JBrowse link
G ZBTB42 zinc finger and BTB domain containing 42 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:104,800,554...104,804,712
Ensembl chr14:104,800,596...104,804,712
JBrowse link
G ZFYVE21 zinc finger FYVE-type containing 21 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:103,715,810...103,733,664
Ensembl chr14:103,715,730...103,733,668
JBrowse link
G ZNF839 zinc finger protein 839 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:102,317,506...102,342,367
Ensembl chr14:102,317,377...102,342,702
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 IAGP ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
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
ClinVar
OMIM
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532 NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
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 IAGP 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 chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
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 IDA RGD PMID:18515564 RGD:7771550 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATM ATM serine/threonine kinase ameliorates ISO RGD PMID:24370835 RGD:126781690 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO associated with Herpes Simplex, Type 1 RGD PMID:16997857 RGD:8548890 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:18798077 PMID:16476970 RGD:8551819, RGD:8551837 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:16253242 RGD:41410794 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:18798077 RGD:8551819 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
JBrowse link
G IFNB1 interferon beta 1 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
JBrowse link
G IFNG interferon gamma ISO RGD PMID:12162877 RGD:8157603 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:22467659 RGD:7364834 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:cornea RGD PMID:10624423 RGD:7401196 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment IDA human protein in a mouse model RGD PMID:15258192 RGD:8549793 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:29370719 PMID:21204603 RGD:127285376, RGD:127285545 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL23A interleukin 23 subunit alpha ISO mRNA;increased expression:trigeminal ganglion (mouse) RGD PMID:12162874 RGD:39457946 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
JBrowse link
G KDR kinase insert domain receptor treatment ISO protein:increased expression:cornea: RGD PMID:16951377 PMID:16951377 RGD:8549742, RGD:8549742 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G RNASEL ribonuclease L treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR4 toll like receptor 4 ISO
IEP
mRNA:increased expression:cornea: RGD PMID:17686871 PMID:17667620 RGD:7794851, RGD:8552970 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor ISO mRNA:increased expression:cornea RGD PMID:10624423 PMID:12162877 RGD:7401196, RGD:8157603 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule IEP protein:increased expression:dermis (human) RGD PMID:29603182 RGD:127285799 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G GJB2 gap junction protein beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G IL17D interleukin 17D sexual_dimorphism HEP mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
JBrowse link
G IL32 interleukin 32 exacerbates IEP mRNA,protein:increased expression:zone of skin, blood serum (human) RGD PMID:28301691 RGD:150340720 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G LCN2 lipocalin 2 disease_progression IEP RGD PMID:28256718 RGD:126781708 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475
JBrowse link
G TNF tumor necrosis factor IAGP DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar
OMIM
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 More... NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
JBrowse link
G ENTR1 endosome associated trafficking regulator 1 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G LOC113839540 Sharpr-MPRA regulatory region 3996 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:25741868 NCBI chr 9:136,373,537...136,373,831 JBrowse link
G LOC130003002 ATAC-STARR-seq lymphoblastoid silent region 20510 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:136,364,010...136,364,109 JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992
JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176
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 molecule IAGP ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis OMIM
ClinVar
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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 IAGP ClinVar Annotator: match by term: Immunodeficiency 31C ClinVar PMID:25741868 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
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
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 More... NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
immunodeficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
JBrowse link
G BCL2L13 BCL2 like 13 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,628,877...17,730,855
Ensembl chr22:17,628,855...17,730,855
JBrowse link
G BID BH3 interacting domain death agonist IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,734,138...17,774,665
Ensembl chr22:17,734,138...17,774,770
JBrowse link
G C22orf39 chromosome 22 open reading frame 39 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,440,886...19,447,711
Ensembl chr22:19,351,368...19,447,711
JBrowse link
G CDC45 cell division cycle 45 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
JBrowse link
G CECR2 CECR2 histone acetyl-lysine reader IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,359,949...17,558,151
Ensembl chr22:17,359,949...17,558,151
JBrowse link
G CECR3 cat eye syndrome chromosome region, candidate 3 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,256,859...17,266,733
Ensembl chr22:17,256,859...17,266,822
JBrowse link
G CLDN5 claudin 5 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545
JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719
JBrowse link
G COMT catechol-O-methyltransferase IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
JBrowse link
G GNB1L G protein subunit beta 1 like IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GSC2 goosecoid homeobox 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292
JBrowse link
G HDHD5 haloacid dehalogenase like hydrolase domain containing 5 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,137,520...17,165,287
Ensembl chr22:17,137,511...17,165,287
JBrowse link
G HIRA histone cell cycle regulator IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G IL17RA interleukin 17 receptor A IAGP ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G LOC126863094 MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 IAGP ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:17,106,957...17,108,156 JBrowse link
G LOC129391259 MPRA-validated peak4440 silencer IAGP ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:17,105,810...17,106,010 JBrowse link
G LOC130066893 ATAC-STARR-seq lymphoblastoid silent region 13429 IAGP ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar NCBI chr22:17,084,783...17,085,002 JBrowse link
G LOC130066894 ATAC-STARR-seq lymphoblastoid silent region 13430 IAGP ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr22:17,085,023...17,085,142 JBrowse link
G MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,787,649...18,024,561
Ensembl chr22:17,787,649...18,024,561
JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,432,545...19,436,075
Ensembl chr22:19,432,545...19,436,075
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
JBrowse link
G PRODH proline dehydrogenase 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553
JBrowse link
G RTL10 retrotransposon Gag like 10 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896
JBrowse link
G SEPTIN5 septin 5 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224
JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
JBrowse link
G SLC25A18 solute carrier family 25 member 18 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,563,498...17,590,995
Ensembl chr22:17,563,450...17,590,995
JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TMEM121B transmembrane protein 121B IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:17,116,297...17,121,360
Ensembl chr22:17,116,297...17,121,367
JBrowse link
G TSSK2 testis specific serine kinase 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,131,308...19,132,622
Ensembl chr22:19,131,308...19,132,622
JBrowse link
G TUBA8 tubulin alpha 8 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683
JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397
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 IAGP 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 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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 ISO RGD PMID:21423669 RGD:5508765 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CCR6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 IEP RGD PMID:17298426 RGD:5135501 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G CYBB cytochrome b-245 beta chain ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment IAGP DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G IL17A interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G MBL2 mannose binding lectin 2 IAGP DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G PTX3 pentraxin 3 severity IAGP
IEP
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 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR4 toll like receptor 4 susceptibility IAGP DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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 chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD209 CD209 molecule susceptibility IAGP DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G FGF2 fibroblast growth factor 2 treatment IDA RGD PMID:23303813 RGD:8655596 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
JBrowse link
G IL1A interleukin 1 alpha IAGP DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta IAGP DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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 chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
JBrowse link
G MBL2 mannose binding lectin 2 treatment IDA RGD PMID:17335555 RGD:8693746 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G PTX3 pentraxin 3 susceptibility
no_association
IAGP
IEP
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 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
JBrowse link
G VEGFA vascular endothelial growth factor A treatment IDA RGD PMID:23303813 RGD:8655596 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 ISO protein:increased expression:brain RGD PMID:25014011 RGD:8695986 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G ARG1 arginase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21232540 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G BTK Bruton tyrosine kinase susceptibility ISO RGD PMID:28783468 RGD:124715477 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G C3 complement C3 ISO RGD PMID:15378355 RGD:7401274 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10899907 RGD:8661227 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR5 C-C motif chemokine receptor 5 disease_progression ISO
IEP
associated with HIV Infections;protein:increased expression:blood, T cell RGD PMID:10553079 PMID:17457607 RGD:8551832, RGD:8551841 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:17218153 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:21471446 RGD:7771536 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
JBrowse link
G DUSP6 dual specificity phosphatase 6 treatment ISO RGD PMID:21471446 RGD:7771536 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
JBrowse link
G IFNG interferon gamma IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16540374 PMID:17218153 PMID:2145107 RGD:7829781 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL10 interleukin 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16540374 PMID:20404924 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL18 interleukin 18 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16879623 PMID:10768930 RGD:8655909 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6224858 RGD:8693326 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 exacerbates ISO protein:increased expression:popliteal lymph node (mouse) RGD PMID:22429963 RGD:127285547 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL27 interleukin 27 exacerbates ISO RGD PMID:25466588 RGD:126790552 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL4 interleukin 4 treatment IEP
ISO
protein:increased expression:serum RGD PMID:2145107 PMID:2521244 RGD:7829781, RGD:7829820 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16540374 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G ITGB2 integrin subunit beta 2 ameliorates ISO RGD PMID:14502280 RGD:127285813 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670606 NCBI chr 1:150,574,558...150,579,610
Ensembl chr 1:150,560,895...150,579,738
JBrowse link
G SLC6A4 solute carrier family 6 member 4 IEP lupoid leishmaniasis;protein:increased expression:skin of body (human) RGD PMID:23989888 RGD:36947873 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16540374 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20139272 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
JBrowse link
G TNFSF4 TNF superfamily member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10637281 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 severity ISO RGD PMID:24453980 RGD:126925972 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,100...41,286,682
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:17551101 RGD:8158083 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29253318 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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 IEP protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
mucocutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma EXP CTD Direct Evidence: therapeutic CTD PMID:7854095 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G LTA lymphotoxin alpha IAGP DNA:polymorphism:intron RGD PMID:7595196 RGD:8548799 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G TNF tumor necrosis factor IAGP DNA:SNP:promoter:-308G>A (human) RGD PMID:7595196 RGD:8548799 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 1 ISO RGD PMID:19168746 RGD:8662882 NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:11884755 RGD:7794682 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP RGD PMID:8854084 RGD:6480649 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103; RGD PMID:22117902 RGD:8547660 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G IL13 interleukin 13 severity IEP protein:increased expression:serum RGD PMID:22805723 RGD:8549600 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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 ISO RGD PMID:18292527 RGD:4892087 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
JBrowse link
G CFB complement factor B IEP RGD PMID:7921333 RGD:7421526 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 severity IAGP DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human) RGD PMID:17325942 RGD:5147631 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) RGD PMID:27992577 RGD:39939072 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IL18 interleukin 18 treatment IEP RGD PMID:28992214 RGD:39938858 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL1B interleukin 1 beta treatment IEP RGD PMID:28992214 RGD:39938858 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment IEP RGD PMID:28992214 RGD:39938858 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
JBrowse link
G IL32 interleukin 32 IEP protein:increased expression:mouth mucosa, mononuclear cell (human) RGD PMID:33771629 RGD:150340738 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G IL33 interleukin 33 treatment IEP RGD PMID:28992214 RGD:39938858 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G IL37 interleukin 37 treatment IEP RGD PMID:28992214 RGD:39938858 NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G TNF tumor necrosis factor susceptibility IAGP DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
pulmonary aspergilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTX3 pentraxin 3 IEP protein:increased expression:bronchoalveolar lavage fluid, plasma (human) RGD PMID:29964232 RGD:38508894 NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
JBrowse link
rhinoscleroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
scabies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase treatment IEP RGD PMID:17884035 RGD:9479747 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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 IEP protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CLU clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G FGF10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G MIR21 microRNA 21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G NRG1 neuregulin 1 HEP DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G TLR2 toll like receptor 2 IEP protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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 IAGP DNA:SNPs,haplotype: :rs839, rs9282763(human) RGD PMID:18454680 RGD:42722608 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment IAGP DNA:SNP:exon:rs1801133(human) RGD PMID:18454680 RGD:42722608 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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 chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:19740386 RGD:7794681 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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 ISO RGD PMID:24614654 RGD:9068425 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:21536791 RGD:8655921 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL33 interleukin 33 treatment ISO mRNA,protein:increased expression:skin RGD PMID:23892028 PMID:23892028 RGD:40400893, RGD:40400893 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:27524612 RGD:127229915 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:25515118 RGD:36174009 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
strongyloidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL18 interleukin 18 treatment ISO RGD PMID:16129701 RGD:8655932 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL5 interleukin 5 severity ISO RGD PMID:9824515 RGD:11354934 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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 ISO RGD PMID:7835923 RGD:7794724 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:16168564 RGD:7248410 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
toxocariasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4 interleukin 4 treatment IEP RGD PMID:26732352 RGD:11534298 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G OLIG2 oligodendrocyte transcription factor 2 ISO RGD PMID:25773181 RGD:40902825 NCBI chr21:33,025,935...33,029,185
Ensembl chr21:33,025,935...33,029,196
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 ISO mRNA:altered expression:Bcell,CD4Tcell RGD PMID:31001826 RGD:32716386 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
JBrowse link
G CCL4 C-C motif chemokine ligand 4 IEP protein:increased expression:serum RGD PMID:21991751 RGD:5683905 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO associated with Malnutrition;mRNA:increased expression:lymph node,spleen: RGD PMID:24818662 RGD:8661728 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR3 C-C motif chemokine receptor 3 IEP protein:increased expression:blood, T cell RGD PMID:15379987 RGD:6893393 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G CCR5 C-C motif chemokine receptor 5 treatment ISO RGD PMID:24617012 RGD:14401738 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD163 CD163 molecule exacerbates IEP protein:increased expression:blood serum (human) RGD PMID:28355218 RGD:127345133 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:14573667 RGD:8547750 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:14573667 RGD:8547750 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:10467834 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF2 colony stimulating factor 2 treatment IDA
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17404324 PMID:8035028 RGD:10449527 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO mRNA:increased expression:liver RGD PMID:16239557 RGD:27095947 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 treatment
susceptibility
EXP
IDA
IAGP
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 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:SNP:enhancer: (rs9271858) (human)
CTD
RGD
PMID:23291585 PMID:23291585 RGD:127285406 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291585 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HMOX1 heme oxygenase 1 treatment EXP
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22461696 PMID:23729024 RGD:42724459 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IFNG interferon gamma treatment ISO
EXP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013 RGD:8158041, RGD:40890273 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL10 interleukin 10 EXP
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990 RGD:14975172 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha EXP CTD Direct Evidence: therapeutic CTD PMID:15716043 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037
JBrowse link
G IL18 interleukin 18 susceptibility ISO RGD PMID:16879623 RGD:8655922 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17404324 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL27 interleukin 27 ISO mRNA, protein:increased expression:spleen, liver (mouse) RGD PMID:27245409 RGD:126790520 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL2RB interleukin 2 receptor subunit beta susceptibility IAGP DNA:polymorphisms:exon:8777, 8838(human) RGD PMID:17108990 RGD:42724466 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
JBrowse link
G IL32 interleukin 32 ameliorates IMP human gene in a mouse model RGD PMID:29483288 RGD:150340719 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7554475 PMID:17404324 PMID:22461696 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRF5 interferon regulatory factor 5 ISO protein:increased expression:CD4 T cell, nucleus RGD PMID:32038622 PMID:30067973 RGD:40924560, RGD:40924629 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G LTA lymphotoxin alpha severity IAGP
ISO
DNA:polymorphisms RGD PMID:12438370 PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G LTB lymphotoxin beta ISO RGD PMID:12115620 RGD:8548822 NCBI chr 6:31,580,558...31,582,425
Ensembl chr 6:31,580,525...31,582,522
JBrowse link
G MBL2 mannose binding lectin 2 disease_progression
susceptibility
IEP
IAGP
DNA:polymorphism:promoter:
DNA:SNPs,haplotype:promoter,exon:
protein:increased expression:serum:
RGD PMID:17357060 PMID:17357060 PMID:22995279 PMID:26297290 PMID:26297290 RGD:8693721, RGD:8693721, RGD:8693726, RGD:11522692, RGD:11522692 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MIR155 microRNA 155 ISO RGD PMID:31182615 RGD:21081525 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR21 microRNA 21 treatment ISO RGD PMID:31608064 RGD:40925951 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment IEP RGD PMID:23729024 RGD:42724459 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16597321 PMID:17067929 RGD:5684944 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:24242758 RGD:8661696 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO RGD PMID:23589575 RGD:15090808 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TNF tumor necrosis factor severity IAGP
EXP
ISO
DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP
ISS
EXP
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1
OMIM:193670
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97337
    sensory system disease 20855
      skin disease 10850
        Infectious Skin Diseases 342
          Bacterial Skin Diseases + 28
          Parasitic Skin Diseases + 88
          Viral Skin Diseases + 177
          cellulitis + 16
          dermatomycosis + 112
          paronychia 0
Path 2
Term Annotations click to browse term
  disease 97337
    disease of anatomical entity 90962
      nervous system disease 52942
        Neurologic Manifestations 31796
          sensory system disease 20855
            skin disease 10850
              Infectious Skin Diseases 342
                Bacterial Skin Diseases + 28
                Parasitic Skin Diseases + 88
                Viral Skin Diseases + 177
                cellulitis + 16
                dermatomycosis + 112
                paronychia 0
paths to the root