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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
For additional species annotation, visit the Alliance of Genome Resources.



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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      skin disease 3754
        Infectious Skin Diseases 361
          Bacterial Skin Diseases + 23
          Parasitic Skin Diseases + 71
          Viral Skin Diseases + 172
          cellulitis + 78
          dermatomycosis + 94
          paronychia 0
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            Infectious Skin Diseases 361
              Bacterial Skin Diseases + 23
              Parasitic Skin Diseases + 71
              Viral Skin Diseases + 172
              cellulitis + 78
              dermatomycosis + 94
              paronychia 0
paths to the root