Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
allergic bronchopulmonary aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl17 chemokine (C-C motif) ligand 17 ISO associated with Cystic Fibrosis RGD PMID:17898016 RGD:4145612 NCBI chr 8:94,809,380...94,812,038
Ensembl chr 8:94,810,453...94,812,036
JBrowse link
G Ccr1 chemokine (C-C motif) receptor 1 IMP RGD PMID:15951834 RGD:5688155 NCBI chr 9:123,962,126...123,968,692
Ensembl chr 9:123,962,124...123,968,692
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IMP RGD PMID:10946288 RGD:8661731 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr 6:18,170,687...18,322,770
Ensembl chr 6:18,170,687...18,322,768
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) RGD PMID:23278646 RGD:36049760 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: : RGD PMID:23278646 RGD:36049760 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP RGD PMID:7743671 RGD:8547590 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:8699818 RGD:7794730 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human)
DNA:SNP:intron:1011G>A(human)
RGD PMID:11474427 PMID:16487239 RGD:4889577, RGD:8693711 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Tlr9 toll-like receptor 9 susceptibility ISO
IMP
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) RGD PMID:18275280 PMID:18936185 RGD:5130863, RGD:5130858 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:8699818 RGD:7794730 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a susceptibility ISO DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) RGD PMID:20646338 RGD:5131174 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Cd8a CD8 antigen, alpha chain ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 6:71,373,427...71,379,171
Ensembl chr 6:71,373,427...71,379,173
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G Ifna16 interferon alpha 16 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 4:88,676,287...88,676,856
Ensembl chr 4:88,675,915...88,676,924
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il12b interleukin 12b treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:129,610,323...129,623,903
Ensembl chr 6:129,610,323...129,623,864
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr14:33,377,898...33,447,353
Ensembl chr14:33,377,898...33,447,158
JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:119,335,934...119,340,018
Ensembl chr 9:119,335,934...119,341,411
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:4,337,715...4,345,184
Ensembl chr 7:4,337,724...4,345,164
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:94,038,305...94,052,553
Ensembl chr 1:94,038,305...94,052,553
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,720,707...124,738,709
Ensembl chr 6:124,720,707...124,738,714
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:167,303,380...167,330,574
Ensembl chr  X:167,304,929...167,330,558
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:167,241,123...167,264,329
Ensembl chr  X:167,242,696...167,264,329
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:156,026,322...156,028,894
Ensembl chr 4:156,026,164...156,028,895
JBrowse link
aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO DNA:SNP:promoter:-374T>A (human) RGD PMID:22114731 RGD:8695981 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Ccl19 chemokine (C-C motif) ligand 19 IEP associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577
JBrowse link
G Ccr7 chemokine (C-C motif) receptor 7 IMP associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr11:99,144,199...99,155,077
Ensembl chr11:99,144,196...99,155,077
JBrowse link
G Cd209d CD209d antigen ISO RGD PMID:21381282 RGD:5131183 NCBI chr 8:3,871,824...3,878,548
Ensembl chr 8:3,871,824...3,878,555
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator severity IMP RGD PMID:22135344 RGD:35673332 NCBI chr 6:18,170,687...18,322,770
Ensembl chr 6:18,170,687...18,322,768
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 6:129,426,684...129,452,000
Ensembl chr 6:129,424,772...129,452,000
JBrowse link
G Clec7a C-type lectin domain family 7, member a 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 6:129,461,591...129,472,785
Ensembl chr 6:129,461,591...129,472,779
JBrowse link
G Crp C-reactive protein, pentraxin-related treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Il15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 8:82,331,624...82,403,252
Ensembl chr 8:82,331,632...82,403,222
JBrowse link
G Mbl1 mannose-binding lectin (protein A) 1 susceptibility IMP RGD PMID:20064561 RGD:8694071 NCBI chr14:41,151,456...41,163,904
Ensembl chr14:41,151,458...41,159,601
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility IMP RGD PMID:20064561 RGD:8694071 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 5:64,924,680...64,933,600
Ensembl chr 5:64,924,679...64,933,563
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 5:64,953,092...64,970,942
Ensembl chr 5:64,952,031...64,960,097
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: Autosomal recessive chronic granulomatous disease 5 OMIM
ClinVar
PMID:28600779 PMID:30312704 PMID:30361506 NCBI chr11:121,222,588...121,229,309
Ensembl chr11:121,222,588...121,229,322
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 chr 8:122,775,470...122,817,887
Ensembl chr 8:122,775,486...122,817,880
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 chr 8:122,574,637...122,576,907
Ensembl chr 8:122,574,635...122,576,909
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 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 chr 8:122,625,136...122,699,332
Ensembl chr 8:122,625,141...122,699,109
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 chr 8:122,568,015...122,573,130
Ensembl chr 8:122,568,015...122,573,554
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 chr 8:122,476,068...122,483,092
Ensembl chr 8:122,476,143...122,484,138
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar Annotator: match by OMIM:233690
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 More... NCBI chr 8:122,424,771...122,432,940
Ensembl chr 8:122,424,776...122,432,930
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfate 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 chr 8:122,578,237...122,611,701
Ensembl chr 8:122,578,242...122,611,463
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-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 chr 8:122,619,471...122,622,735
Ensembl chr 8:122,619,471...122,622,739
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 chr 8:122,481,698...122,551,329
Ensembl chr 8:122,481,698...122,551,329
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 chr 8:122,466,145...122,476,074
Ensembl chr 8:122,466,147...122,476,064
JBrowse link
G Snai3 snail family zinc finger 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 chr 8:122,454,204...122,460,809
Ensembl chr 8:122,454,208...122,460,733
JBrowse link
G Trappc2l trafficking protein particle complex 2-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 chr 8:122,611,626...122,615,591
Ensembl chr 8:122,611,640...122,616,660
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: p47-PHOX DEFICIENCY
ClinVar Annotator: match by term: p47-PHOX, DEFICIENCY OF
ClinVar Annotator: match by OMIM:233700
OMIM
ClinVar
PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:16972229 More... NCBI chr 5:134,220,053...134,229,628
Ensembl chr 5:134,220,053...134,229,625
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 Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
ClinVar Annotator: match by term: p67-PHOX, DEFICIENCY OF
ClinVar Annotator: match by OMIM:233710
OMIM
ClinVar
PMID:7795241 PMID:8781442 PMID:9536098 PMID:10498624 PMID:10598813 More... NCBI chr 1:152,800,153...152,836,990
Ensembl chr 1:152,800,194...152,836,991
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 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 chr 5:134,220,053...134,229,628
Ensembl chr 5:134,220,053...134,229,625
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar Annotator: match by OMIM:613960
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16880254 PMID:17576681 PMID:19692703 More... NCBI chr15:78,244,164...78,262,582
Ensembl chr15:78,244,801...78,262,580
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, sub-family A (ABC1), member 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,428,599...25,448,544
Ensembl chr 2:25,428,703...25,448,540
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,593,057...26,604,417
Ensembl chr 2:26,593,057...26,604,417
JBrowse link
G Ajm1 apical junction component 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,575,416...25,580,099
Ensembl chr 2:25,575,416...25,581,757
JBrowse link
G C8g complement component 8, gamma polypeptide ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,498,650...25,501,777
Ensembl chr 2:25,498,651...25,501,719
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2
ClinVar Annotator: match by OMIM:212050
OMIM
ClinVar
PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 More... NCBI chr 2:26,352,187...26,360,945
Ensembl chr 2:26,352,176...26,360,918
JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,608,629...25,617,678
Ensembl chr 2:25,608,635...25,617,678
JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,456,843...25,458,777
Ensembl chr 2:25,456,838...25,458,776
JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,628,457...26,636,497
Ensembl chr 2:26,628,457...26,636,497
JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,557,824...25,562,084
Ensembl chr 2:25,557,847...25,562,082
JBrowse link
G Egfl7 EGF-like domain 7 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,581,083...26,592,682
Ensembl chr 2:26,580,014...26,593,120
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,395,874...25,401,323
Ensembl chr 2:25,395,874...25,401,321
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,382,798...26,389,340
Ensembl chr 2:26,382,802...26,389,316
JBrowse link
G Fbxw5 F-box and WD-40 domain protein 5 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,500,750...25,505,470
Ensembl chr 2:25,500,750...25,505,471
JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,422,351...25,426,374
Ensembl chr 2:25,423,267...25,426,374
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,396,249...26,409,244
Ensembl chr 2:26,396,249...26,409,203
JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,682,726...25,686,081
Ensembl chr 2:25,682,726...25,686,081
JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,490,845...25,494,061
Ensembl chr 2:25,490,845...25,493,911
JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,644,144...25,648,801 JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,676,638...25,681,608
Ensembl chr 2:25,676,786...25,681,608
JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,653,118...25,656,217
Ensembl chr 2:25,653,120...25,656,217
JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,563,115...25,571,316
Ensembl chr 2:25,563,115...25,574,845
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,332,730...25,352,213
Ensembl chr 2:25,332,338...25,352,212
JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,591,357...26,591,429
Ensembl chr 2:26,591,357...26,591,429
JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663
JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,403,050...25,409,494
Ensembl chr 2:25,399,351...25,409,494
JBrowse link
G Paxx non-homologous end joining factor ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,455,120...25,462,654
Ensembl chr 2:25,455,141...25,461,094
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,573,430...25,575,514
Ensembl chr 2:25,573,430...25,575,224
JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,389,348...26,397,121
Ensembl chr 2:26,389,339...26,397,122
JBrowse link
G Ptgds prostaglandin D2 synthase (brain) ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,466,709...25,470,110
Ensembl chr 2:25,466,709...25,470,046
JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,583,017...25,608,481
Ensembl chr 2:25,583,018...25,608,521
JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,372,035...25,378,213
Ensembl chr 2:25,372,321...25,378,213
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,409,431...26,446,293
Ensembl chr 2:26,409,431...26,445,216
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,362,765...26,380,661
Ensembl chr 2:26,362,765...26,380,653
JBrowse link
G Snhg7 small nucleolar RNA host gene 7 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:26,637,176...26,640,244 JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,620,066...25,622,047
Ensembl chr 2:25,620,067...25,622,005
JBrowse link
G Traf2 TNF receptor-associated factor 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,517,982...25,546,940
Ensembl chr 2:25,517,982...25,546,940
JBrowse link
G Uap1l1 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 2:25,361,489...25,365,682
Ensembl chr 2:25,359,889...25,365,682
JBrowse link
Candidiasis, Familial, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec7a C-type lectin domain family 7, member a ISO ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis OMIM
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr 6:129,461,591...129,472,785
Ensembl chr 6:129,461,591...129,472,779
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
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:20,777,146...20,785,274
Ensembl chr 1:20,777,146...20,790,617
JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G E130307A14Rik RIKEN cDNA E130307A14 gene ISO ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 More... NCBI chr10:39,621,411...39,732,007
Ensembl chr10:39,621,412...39,732,007
JBrowse link
G Traf3ip2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar Annotator: match by OMIM:615527
OMIM
ClinVar
PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 More... NCBI chr10:39,612,934...39,655,307
Ensembl chr10:39,612,934...39,655,307
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:113,483,356...113,493,343
Ensembl chr 6:113,483,297...113,493,343
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 NCBI chr 6:113,471,455...113,483,163
Ensembl chr 6:113,471,427...113,483,140
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,458,699...113,470,758
Ensembl chr 6:113,458,484...113,470,758
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 6:113,442,517...113,448,229
Ensembl chr 6:113,442,569...113,448,229
JBrowse link
cellulitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
chromoblastomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma treatment IDA RGD PMID:29481557 RGD:14975102 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
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 polypeptide 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:10759707 PMID:10910929 PMID:19292887 More... RGD:1600791, RGD:11040541, RGD:734861 NCBI chr 8:122,424,771...122,432,940
Ensembl chr 8:122,424,776...122,432,930
JBrowse link
G Cybb cytochrome b-245, beta polypeptide ISO
IEA
DNA:point mutations:promoter
ClinVar Annotator: match by term: Chronic granulomatous disease
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960
DNA:mutations:promoter:
ClinVar
CTD
MouseDO
RGD
PMID:8634410 PMID:11045425 PMID:11122248 PMID:11498749 PMID:17293536 More... RGD:1599664, RGD:11040566 NCBI chr  X:9,435,252...9,487,766
Ensembl chr  X:9,435,252...9,487,771
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:4125296 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Ifng interferon gamma ISO RGD PMID:22883043 RGD:6893353 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO
IEA
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 chr 5:134,220,053...134,229,628
Ensembl chr 5:134,220,053...134,229,625
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease ClinVar
RGD
PMID:2393022 RGD:1624401 NCBI chr 1:152,800,153...152,836,990
Ensembl chr 1:152,800,194...152,836,991
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Granulomatous Disease, Chronic
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar PMID:19692703 PMID:29969437 PMID:34034819 NCBI chr15:78,244,164...78,262,582
Ensembl chr15:78,244,801...78,262,580
JBrowse link
G Tlr5 toll-like receptor 5 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr 1:182,954,752...182,976,044
Ensembl chr 1:182,954,788...182,976,044
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
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 2:26,352,187...26,360,945
Ensembl chr 2:26,352,176...26,360,918
JBrowse link
G Clec7a C-type lectin domain family 7, member a ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 6:129,461,591...129,472,785
Ensembl chr 6:129,461,591...129,472,779
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 1:20,777,146...20,785,274
Ensembl chr 1:20,777,146...20,790,617
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 6:120,463,181...120,483,731
Ensembl chr 6:120,463,247...120,487,559
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 6:113,471,455...113,483,163
Ensembl chr 6:113,471,427...113,483,140
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) RGD PMID:31784499 RGD:150340677 NCBI chr14:33,377,898...33,447,353
Ensembl chr14:33,377,898...33,447,158
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD
ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 More... NCBI chr 1:52,119,438...52,161,865
Ensembl chr 1:52,119,440...52,161,865
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 chr10:39,612,934...39,655,307
Ensembl chr10:39,612,934...39,655,307
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 cellular and humoral immune defects with granulomas ClinVar PMID:8810255 PMID:25739914 PMID:28492532 NCBI chr 2:101,560,779...101,629,031
Ensembl chr 2:101,560,781...101,649,532
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 OMIM:233650
OMIM
ClinVar
PMID:2682973 PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 More... NCBI chr 2:101,638,252...101,649,532
Ensembl chr 2:101,638,282...101,649,501
JBrowse link
G Rag2 recombination activating gene 2 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:2618670 PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 More... NCBI chr 2:101,624,712...101,632,528
Ensembl chr 2:101,624,718...101,632,529
JBrowse link
cutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:decreased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccr1 chemokine (C-C motif) receptor 1 IEP RGD PMID:12874303 RGD:5688168 NCBI chr 9:123,962,126...123,968,692
Ensembl chr 9:123,962,124...123,968,692
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IEP mRNA:increased expression:foot, lymph node RGD PMID:12874303 RGD:5688168 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:23632983 PMID:17214851 RGD:8549764, RGD:8549765 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cd163 CD163 antigen ISO mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) RGD PMID:32023254 RGD:127345130 NCBI chr 6:124,304,636...124,330,529
Ensembl chr 6:124,304,656...124,330,527
JBrowse link
G Cd274 CD274 antigen IMP RGD PMID:16358363 RGD:41410801 NCBI chr19:29,362,107...29,388,095
Ensembl chr19:29,367,455...29,388,095
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO DNA:SNPs: :rs1061237, rs2586488 (human) RGD PMID:25562121 RGD:11041176 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G Ifng interferon gamma treatment ISO
IEP
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013 RGD:40890273 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:Peripheral blood mononuclear cell:
CTD
RGD
PMID:20102417 PMID:29205403 RGD:38455981 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il13 interleukin 13 treatment IEP RGD PMID:12739821 PMID:18924210 RGD:8549536, RGD:8549561 NCBI chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il23a interleukin 23, alpha subunit p19 IMP RGD PMID:29078003 RGD:39457938 NCBI chr10:128,296,140...128,298,084
Ensembl chr10:128,296,139...128,298,752
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 treatment IMP associated with lymphocytic choriomeningitis RGD PMID:26290604 RGD:39128165 NCBI chr 6:129,610,323...129,623,903
Ensembl chr 6:129,610,323...129,623,864
JBrowse link
G Lta lymphotoxin A no_association ISO DNA:SNP:intron:252A>G (human) RGD PMID:16950634 RGD:8548800 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Ltb lymphotoxin B IMP RGD PMID:17911622 RGD:8548820 NCBI chr17:35,194,507...35,196,305
Ensembl chr17:35,194,439...35,196,320
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21091666 PMID:21091666 RGD:8657030 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 IMP RGD PMID:16358363 RGD:41410801 NCBI chr19:29,410,919...29,472,927
Ensembl chr19:29,410,919...29,471,161
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment IMP RGD PMID:27999013 RGD:40890273 NCBI chr 4:149,649,168...149,702,566
Ensembl chr 4:149,649,168...149,702,571
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:insertion/deletion (human) RGD PMID:20089160 RGD:5684930 NCBI chr 1:74,375,014...74,386,057
Ensembl chr 1:74,375,195...74,386,062
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO protein:increased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IMP RGD PMID:10458767 RGD:8661703 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (rs1800629) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20102417 PMID:16950634 RGD:8548800 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
eczema herpeticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ido1 indoleamine 2,3-dioxygenase 1 severity ISO associated with atopic dermatitis; protein:increased activity:serum (human) RGD PMID:26198597 RGD:11528429 NCBI chr 8:24,584,133...24,596,952
Ensembl chr 8:24,584,136...24,597,009
JBrowse link
G Ifng interferon gamma susceptibility ISO mRNA,protein:decreased expression:peripheral mononuclear cell:
DNA:haplotype::
RGD PMID:21458658 PMID:21458658 RGD:6480259, RGD:6480259 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel-like gene family 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 More... NCBI chr11:117,765,985...117,782,193
Ensembl chr11:117,765,988...117,782,198
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel-like gene family 6 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 More... NCBI chr11:117,765,985...117,782,193
Ensembl chr11:117,765,988...117,782,198
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 More... NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
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 (calmyrin) ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 More... NCBI chr 7:80,227,156...80,232,805
Ensembl chr 7:80,227,147...80,232,813
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 chr 5:65,860,742...65,896,700
Ensembl chr 5:65,861,213...65,896,700
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 3:7,572,028...7,613,760
Ensembl chr 3:7,569,994...7,613,760
JBrowse link
eumycotic mycetoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comt catechol-O-methyltransferase severity ISO DNA:missense mutation:cds: (rs4680) (human) RGD PMID:20184498 RGD:8662334 NCBI chr16:18,406,882...18,426,716
Ensembl chr16:18,406,886...18,426,852
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
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: Familial acne inversa 1 ClinVar
OMIM
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 More... NCBI chr 1:172,066,013...172,082,789
Ensembl chr 1:172,066,013...172,082,795
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 ClinVar
OMIM
PMID:20929727 PMID:21412258 PMID:27900998 PMID:28287404 PMID:28492532 More... NCBI chr 7:30,561,865...30,563,627
Ensembl chr 7:30,561,863...30,563,627
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 ClinVar
OMIM
PMID:11389157 PMID:20929727 PMID:28492532 NCBI chr12:83,688,152...83,735,095
Ensembl chr12:83,688,152...83,735,199
JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncstn nicastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 1:172,066,013...172,082,789
Ensembl chr 1:172,066,013...172,082,795
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr12:83,688,152...83,735,095
Ensembl chr12:83,688,152...83,735,199
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 7:30,561,865...30,563,627
Ensembl chr 7:30,561,863...30,563,627
JBrowse link
Furunculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti EXP CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr 2:154,950,599...155,051,012
Ensembl chr 2:154,791,402...155,051,012
Ensembl chr 2:154,791,402...155,051,012
JBrowse link
genital herpes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl5 chemokine (C-C motif) ligand 5 IDA RGD PMID:12502811 RGD:4890015 NCBI chr11:83,525,778...83,530,518
Ensembl chr11:83,525,778...83,530,518
JBrowse link
G Ifnar1 interferon (alpha and beta) receptor 1 exacerbates IMP RGD PMID:28264883 RGD:125093738 NCBI chr16:91,485,032...91,510,523
Ensembl chr16:91,485,238...91,507,441
JBrowse link
G Ifng interferon gamma IEP
IMP
protein:increased expression:vaginal secretion: RGD PMID:10366565 PMID:10366565 RGD:8158034, RGD:8158034 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Il21 interleukin 21 treatment IDA RGD PMID:24358128 RGD:127285365 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il3 interleukin 3 ISO RNA: increased expression RGD PMID:21175248 RGD:5686876 NCBI chr11:54,265,085...54,267,279
Ensembl chr11:54,265,303...54,267,277
JBrowse link
G Irf9 interferon regulatory factor 9 exacerbates IMP RGD PMID:28264883 RGD:125093738 NCBI chr14:55,603,985...55,610,030
Ensembl chr14:55,603,571...55,610,030
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ameliorates IMP RGD PMID:31555293 RGD:42722615 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Rnasel ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) severity IMP RGD PMID:17157346 RGD:40902623 NCBI chr 1:153,749,344...153,768,690
Ensembl chr 1:153,749,426...153,764,221
JBrowse link
G Stat4 signal transducer and activator of transcription 4 treatment
severity
ISO DNA:SNP:intron:rs7572482 (human)
DNA:SNPs, haplotype: :multiple
RGD PMID:22718836 PMID:22718836 RGD:8661697, RGD:8661697 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
herpes simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO RGD PMID:17101197 RGD:7771596 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G C3 complement component 3 IMP RGD PMID:11509581 RGD:7401276 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 IEP mRNA:increased expression:cornea (mouse) RGD PMID:9544579 RGD:8549472 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd1d1 CD1d1 antigen exacerbates IMP RGD PMID:18614643 RGD:127345112 NCBI chr 3:86,995,834...87,012,358
Ensembl chr 3:86,995,834...86,999,441
JBrowse link
G Cd274 CD274 antigen IMP RGD PMID:29669784 RGD:41412169 NCBI chr19:29,362,107...29,388,095
Ensembl chr19:29,367,455...29,388,095
JBrowse link
G Cd40lg CD40 ligand IMP RGD PMID:11134274 RGD:8547770 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd8a CD8 antigen, alpha chain IEP mRNA:increased expression:trigeminal ganglion (mouse) RGD PMID:19151393 RGD:124715454 NCBI chr 6:71,373,427...71,379,171
Ensembl chr 6:71,373,427...71,379,173
JBrowse link
G Dock8 dedicator of cytokinesis 8 severity IMP RGD PMID:25776845 RGD:11055046 NCBI chr19:24,999,321...25,202,432
Ensembl chr19:24,999,534...25,202,432
JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 IMP RGD PMID:30050136 RGD:40902865 NCBI chr11:95,957,163...96,005,944
Ensembl chr11:95,957,163...96,005,940
JBrowse link
G Il18 interleukin 18 treatment IDA RGD PMID:9971824 RGD:8655923 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il21 interleukin 21 treatment IMP
IEP
mRNA:increased expression:spleen (mouse) RGD PMID:19233474 PMID:16406655 RGD:127285367, RGD:127285372 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il33 interleukin 33 ISO
IEP
protein:increased expression:skin RGD PMID:26872602 PMID:26872602 RGD:39939003, RGD:39939003 NCBI chr19:29,925,113...29,960,718
Ensembl chr19:29,925,114...29,960,718
JBrowse link
G Irf5 interferon regulatory factor 5 susceptibility ISO associated with multiple sclerosis;DNA:SNP: :rs3807306 (human) RGD PMID:20861862 RGD:40924643 NCBI chr 6:29,526,130...29,541,869
Ensembl chr 6:29,526,625...29,541,871
JBrowse link
G Mbl1 mannose-binding lectin (protein A) 1 IEP protein:increased expression:serum: RGD PMID:15498041 RGD:8693727 NCBI chr14:41,151,456...41,163,904
Ensembl chr14:41,151,458...41,159,601
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility
disease_progression
ISO DNA:polymorphism:cds: RGD PMID:19480845 PMID:15498041 PMID:15498041 RGD:8693725, RGD:8693727, RGD:8693727 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10729168 NCBI chr 9:43,737,075...43,807,461
Ensembl chr 9:43,743,984...43,832,658
Ensembl chr 9:43,743,984...43,832,658
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10729168 PMID:11602758 PMID:30319691 NCBI chr 7:19,716,644...19,749,573
Ensembl chr 7:19,716,644...19,750,483
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates IMP RGD PMID:30050136 PMID:25316792 RGD:40902865, RGD:127229943 NCBI chr14:55,784,995...55,788,857
Ensembl chr14:55,784,995...55,788,865
JBrowse link
G Rpl30 ribosomal protein L30 ISO protein:increased serine phosphorylation:ribosome RGD PMID:7588575 RGD:11039399 NCBI chr15:34,440,505...34,443,276
Ensembl chr15:34,440,505...34,443,640
JBrowse link
Herpes Simplex Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:11118260 RGD:7771554 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:17454447 RGD:8698664 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha treatment ISO RGD PMID:22761571 RGD:7240516 NCBI chr 7:114,625,981...114,636,910
Ensembl chr 7:114,631,478...114,636,357
JBrowse link
G Calcr calcitonin receptor treatment ISO RGD PMID:22761571 RGD:7240516 NCBI chr 6:3,685,678...3,764,713
Ensembl chr 6:3,685,680...3,764,714
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IMP RGD PMID:22377584 RGD:8661752 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 IMP RGD PMID:23391218 RGD:8551839 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 IMP RGD PMID:22377584 RGD:8661752 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link
G Gdnf glial cell line derived neurotrophic factor IEP mRNA:increased expression:brain: RGD PMID:15950786 RGD:8657070 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity IMP RGD PMID:26872602 RGD:39939003 NCBI chr 1:40,404,864...40,465,418
Ensembl chr 1:40,429,570...40,465,415
JBrowse link
G Irf3 interferon regulatory factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:44,997,648...45,002,848
Ensembl chr 7:44,997,648...45,002,848
JBrowse link
G Lta lymphotoxin A IMP RGD PMID:11145686 RGD:8548806 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA protein:increased activity:brain RGD PMID:15364410 RGD:8547868 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IMP
IDA
protein:increased activity:brain RGD PMID:20483026 PMID:15364410 RGD:8547867, RGD:8547868 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility IMP RGD PMID:17266445 RGD:8661706 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Ticam1 toll-like receptor adaptor molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:56,269,462...56,276,767
Ensembl chr17:56,269,319...56,276,786
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression IMP
ISO
RGD PMID:14739339 PMID:20806060 RGD:8553026, RGD:5130178 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr3 toll-like receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:20806060 RGD:5130178 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr9 toll-like receptor 9 resistance ISO mRNA:increased expression:cheek (rat) RGD PMID:20806060 RGD:5130178 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Traf3 TNF receptor-associated factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:111,166,321...111,267,155
Ensembl chr12:111,166,370...111,267,153
JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:3,935,158...3,949,340
Ensembl chr19:3,935,186...3,949,340
JBrowse link
Herpes Simplex Encephalitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr3 toll-like receptor 3 ISO ClinVar Annotator: match by term: 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 chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis 1 ClinVar
OMIM
PMID:9536098 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr19:3,935,158...3,949,340
Ensembl chr19:3,935,186...3,949,340
JBrowse link
Herpes Simplex Encephalitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnionless ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr12:111,271,096...111,276,426
Ensembl chr12:111,271,095...111,276,426
JBrowse link
G Traf3 TNF receptor-associated factor 3 susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:28492532 PMID:31681265 NCBI chr12:111,166,321...111,267,155
Ensembl chr12:111,166,370...111,267,153
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 ClinVar
OMIM
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532 NCBI chr17:56,269,462...56,276,767
Ensembl chr17:56,269,319...56,276,786
JBrowse link
Herpes Simplex Encephalitis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf3 interferon regulatory factor 3 susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 7 OMIM
ClinVar
PMID:26216125 PMID:26513235 PMID:28492532 NCBI chr 7:44,997,648...45,002,848
Ensembl chr 7:44,997,648...45,002,848
JBrowse link
herpes simplex virus keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E treatment ISO RGD PMID:18515564 RGD:7771550 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Atm ataxia telangiectasia mutated ameliorates IMP RGD PMID:24370835 RGD:126781690 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 severity IMP associated with Herpes Simplex, Type 1 RGD PMID:16997857 RGD:8548890 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 IEP RGD PMID:15287366 RGD:7483593 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 IMP RGD PMID:18798077 PMID:16476970 RGD:8551819, RGD:8551837 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Ccr6 chemokine (C-C motif) receptor 6 IEP RGD PMID:15287366 RGD:7483593 NCBI chr17:8,236,041...8,258,519
Ensembl chr17:8,236,043...8,257,141
JBrowse link
G Cd274 CD274 antigen IMP RGD PMID:16253242 RGD:41410794 NCBI chr19:29,362,107...29,388,095
Ensembl chr19:29,367,455...29,388,095
JBrowse link
G Cxcr3 chemokine (C-X-C motif) receptor 3 IMP RGD PMID:18798077 RGD:8551819 NCBI chr  X:101,731,535...101,734,147
Ensembl chr  X:101,731,535...101,734,269
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 treatment IMP RGD PMID:15670795 RGD:40902819 NCBI chr17:78,850,504...78,882,572
Ensembl chr17:78,852,564...78,882,573
JBrowse link
G Ifnb1 interferon beta 1, fibroblast treatment IMP RGD PMID:15670795 RGD:40902819 NCBI chr 4:88,522,025...88,522,794
Ensembl chr 4:88,522,025...88,522,774
JBrowse link
G Ifng interferon gamma IMP RGD PMID:12162877 RGD:8157603 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:22467659 RGD:7364834 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:cornea RGD PMID:10624423 RGD:7401196 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a mouse model RGD PMID:15258192 RGD:8549793 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il21 interleukin 21 treatment IMP RGD PMID:29370719 PMID:21204603 RGD:127285376, RGD:127285545 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il23a interleukin 23, alpha subunit p19 IEP mRNA;increased expression:trigeminal ganglion (mouse) RGD PMID:12162874 RGD:39457946 NCBI chr10:128,296,140...128,298,084
Ensembl chr10:128,296,139...128,298,752
JBrowse link
G Kdr kinase insert domain protein receptor treatment IEP
IDA
protein:increased expression:cornea: RGD PMID:16951377 PMID:16951377 RGD:8549742, RGD:8549742 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Rnasel ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) treatment IMP RGD PMID:15670795 RGD:40902819 NCBI chr 1:153,749,344...153,768,690
Ensembl chr 1:153,749,426...153,764,221
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility IMP RGD PMID:17266445 RGD:8661706 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:17686871 RGD:7794851 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr4 toll-like receptor 4 IMP
ISO
mRNA:increased expression:cornea: RGD PMID:17686871 PMID:17667620 RGD:7794851, RGD:8552970 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr9 toll-like receptor 9 IMP RGD PMID:17686871 RGD:7794851 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnf tumor necrosis factor IEP
IMP
mRNA:increased expression:cornea RGD PMID:10624423 PMID:12162877 RGD:7401196, RGD:8157603 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 antigen ISO protein:increased expression:dermis (human) RGD PMID:29603182 RGD:127285799 NCBI chr 6:124,304,636...124,330,529
Ensembl chr 6:124,304,656...124,330,527
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Il17d interleukin 17D sexual_dimorphism ISO mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr14:57,524,829...57,543,166
Ensembl chr14:57,524,777...57,543,166
JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO RGD PMID:28256718 RGD:126781708 NCBI chr 2:32,384,637...32,387,739
Ensembl chr 2:32,384,633...32,388,252
JBrowse link
G Mefv Mediterranean fever ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr16:3,706,974...3,718,211
Ensembl chr16:3,707,218...3,718,097
JBrowse link
G Ncstn nicastrin ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr 1:172,066,013...172,082,789
Ensembl chr 1:172,066,013...172,082,795
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr11:59,541,569...59,566,955
Ensembl chr11:59,541,568...59,566,956
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:88,647,315...88,688,474
Ensembl chr 8:88,647,315...88,688,474
JBrowse link
G Psen1 presenilin 1 ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr12:83,688,152...83,735,095
Ensembl chr12:83,688,152...83,735,199
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr 7:30,561,865...30,563,627
Ensembl chr 7:30,561,863...30,563,627
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 9:56,078,445...56,128,890
Ensembl chr 9:56,089,962...56,128,888
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
immunodeficiency 31C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 31C ClinVar PMID:25741868 NCBI chr 7:125,603,252...125,634,397
Ensembl chr 7:125,603,429...125,633,570
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar Annotator: match by term: Candidiasis, familial, 7
ClinVar Annotator: match by OMIM:614162
OMIM
ClinVar
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 More... NCBI chr 1:52,119,438...52,161,865
Ensembl chr 1:52,119,440...52,161,865
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
ClinVar Annotator: match by OMIM:613953
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 6:120,463,181...120,483,731
Ensembl chr 6:120,463,247...120,487,559
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
ClinVar
OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 More... NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
invasive aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor IMP RGD PMID:21423669 RGD:5508765 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 severity IMP RGD PMID:11160230 RGD:11528533 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 IEP protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ccr6 chemokine (C-C motif) receptor 6 disease_progression IMP RGD PMID:17379855 RGD:7483617 NCBI chr17:8,236,041...8,258,519
Ensembl chr17:8,236,043...8,257,141
JBrowse link
G Cxcr3 chemokine (C-X-C motif) receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:101,731,535...101,734,147
Ensembl chr  X:101,731,535...101,734,269
JBrowse link
G Cybb cytochrome b-245, beta polypeptide IMP RGD PMID:24054721 RGD:10450528 NCBI chr  X:9,435,252...9,487,766
Ensembl chr  X:9,435,252...9,487,771
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr19:39,389,556...39,463,103
Ensembl chr19:39,389,556...39,463,075
JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:24054721 RGD:10450528 NCBI chr10:79,886,312...79,888,216
Ensembl chr10:79,886,247...79,888,215
JBrowse link
G Il17a interleukin 17A severity IMP RGD PMID:21807912 RGD:8698654 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Ptx3 pentraxin related gene severity ISO DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527
protein:increased expression:bronchoalveolar lavage fluid (human)
RGD PMID:30275011 PMID:28487045 RGD:38501097, RGD:38508892 NCBI chr 3:66,219,887...66,225,806
Ensembl chr 3:66,219,910...66,225,805
JBrowse link
G S100b S100 protein, beta polypeptide, neural IMP RGD PMID:21423669 RGD:5508765 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:16113258 RGD:8553022 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:12917249 RGD:11528529 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Itih4 inter alpha-trypsin inhibitor, heavy chain 4 ISO protein:increased expression:respiratory system fluid/secretion, serum RGD PMID:24360996 RGD:40903005 NCBI chr14:30,886,476...30,901,986
Ensembl chr14:30,886,476...30,902,353
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Ptx3 pentraxin related gene susceptibility
no_association
ISO DNA:SNP:intron:rs1840680 (human)
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD PMID:29020397 PMID:29964232 PMID:29020397 PMID:29020397 RGD:38501098, RGD:38508894, RGD:38501098, RGD:38501098 NCBI chr 3:66,219,887...66,225,806
Ensembl chr 3:66,219,910...66,225,805
JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor IEP protein:increased expression:brain RGD PMID:25014011 RGD:8695986 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Arg1 arginase, liver ISO CTD Direct Evidence: marker/mechanism CTD PMID:21232540 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase susceptibility IMP RGD PMID:28783468 RGD:124715477 NCBI chr  X:134,542,334...134,583,628
Ensembl chr  X:134,542,336...134,583,570
JBrowse link
G C3 complement component 3 IMP RGD PMID:15378355 RGD:7401274 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IMP RGD PMID:10899907 RGD:8661227 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 disease_progression IMP
ISO
associated with HIV Infections;protein:increased expression:blood, T cell RGD PMID:10553079 PMID:17457607 RGD:8551832, RGD:8551841 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218153 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IMP RGD PMID:21471446 RGD:7771536 NCBI chr17:26,505,591...26,508,472
Ensembl chr17:26,505,590...26,562,128
JBrowse link
G Dusp6 dual specificity phosphatase 6 treatment IMP RGD PMID:21471446 RGD:7771536 NCBI chr10:99,263,231...99,267,489
Ensembl chr10:99,263,231...99,267,489
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16540374 PMID:17218153 PMID:2145107 RGD:7829781 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 PMID:20404924 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il18 interleukin 18 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16879623 PMID:10768930 RGD:8655909 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il2 interleukin 2 IDA RGD PMID:6224858 RGD:8693326 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il21 interleukin 21 exacerbates IEP protein:increased expression:popliteal lymph node (mouse) RGD PMID:22429963 RGD:127285547 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il27 interleukin 27 exacerbates IMP RGD PMID:25466588 RGD:126790552 NCBI chr 7:126,589,009...126,595,035
Ensembl chr 7:126,589,010...126,594,941
JBrowse link
G Il4 interleukin 4 treatment ISO
IMP
protein:increased expression:serum RGD PMID:2145107 PMID:2521244 RGD:7829781, RGD:7829820 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Itgb2 integrin beta 2 ameliorates IMP RGD PMID:14502280 RGD:127285813 NCBI chr10:77,530,329...77,565,708
Ensembl chr10:77,530,252...77,565,708
JBrowse link
G Mcl1 myeloid cell leukemia sequence 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670606 NCBI chr 3:95,656,944...95,663,179
Ensembl chr 3:95,658,788...95,663,176
JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ISO lupoid leishmaniasis;protein:increased expression:skin of body (human) RGD PMID:23989888 RGD:36947873 NCBI chr11:76,998,597...77,032,343
Ensembl chr11:76,998,603...77,032,340
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20139272 NCBI chr 4:156,026,322...156,028,894
Ensembl chr 4:156,026,164...156,028,895
JBrowse link
G Tnfsf4 tumor necrosis factor (ligand) superfamily, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10637281 NCBI chr 1:161,395,438...161,418,206
Ensembl chr 1:161,395,409...161,418,410
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 severity IMP RGD PMID:24453980 RGD:126925972 NCBI chr17:48,232,713...48,246,927
Ensembl chr17:48,232,768...48,246,924
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor IMP RGD PMID:17551101 RGD:8158083 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
mite infestation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29253318 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
molluscum contagiosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
mucocutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:7854095 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Lta lymphotoxin A ISO DNA:polymorphism:intron RGD PMID:7595196 RGD:8548799 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:7595196 RGD:8548799 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
MUCOCUTANEOUS ULCERATION, CHRONIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO ClinVar Annotator: match by term: MUCOCUTANEOUS ULCERATION, CHRONIC ClinVar
OMIM
PMID:28600438 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
JBrowse link
onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103; RGD PMID:22117902 RGD:8547660 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G H2-Pa histocompatibility 2, P region alpha locus ISO RGD PMID:8854084 RGD:6480649 NCBI chr17:34,084,613...34,085,852
Ensembl chr17:34,084,601...34,085,823
JBrowse link
G Il13 interleukin 13 severity ISO protein:increased expression:serum RGD PMID:22805723 RGD:8549600 NCBI chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
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 I IMP RGD PMID:19168746 RGD:8662882 NCBI chr 1:40,222,480...40,316,201
Ensembl chr 1:40,225,080...40,317,257
JBrowse link
G Tlr4 toll-like receptor 4 IMP RGD PMID:11884755 RGD:7794682 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
paracoccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 chemokine (C-C motif) receptor 5 IMP RGD PMID:18292527 RGD:4892087 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cd28 CD28 antigen IMP RGD PMID:20713624 RGD:5131616 NCBI chr 1:60,746,388...60,773,359
Ensembl chr 1:60,716,800...60,773,359
JBrowse link
G Cfb complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta severity ISO DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human) RGD PMID:17325942 RGD:5147631 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Icam1 intercellular adhesion molecule 1 IMP RGD PMID:17003484 RGD:8547589 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 IEP mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) RGD PMID:27992577 RGD:39939072 NCBI chr 8:24,584,133...24,596,952
Ensembl chr 8:24,584,136...24,597,009
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 1:40,404,864...40,465,418
Ensembl chr 1:40,429,570...40,465,415
JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr19:29,925,113...29,960,718
Ensembl chr19:29,925,114...29,960,718
JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:19765107 RGD:8657058 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 IDA RGD PMID:19765107 RGD:8657058 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
pulmonary aspergilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptx3 pentraxin related gene ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human) RGD PMID:29964232 RGD:38508894 NCBI chr 3:66,219,887...66,225,806
Ensembl chr 3:66,219,910...66,225,805
JBrowse link
rhinoscleroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
scabies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase treatment ISO RGD PMID:17884035 RGD:9479747 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Clu clusterin IEP RGD PMID:11085517 RGD:8746700 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Fgf10 fibroblast growth factor 10 IEP protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr13:118,714,699...118,792,573
Ensembl chr13:118,669,791...118,792,115
JBrowse link
G Mir21a microRNA 21a ameliorates IMP RGD PMID:21646541 RGD:41404663 NCBI chr11:86,584,067...86,584,158
Ensembl chr11:86,584,067...86,584,158
JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:31,807,452...32,891,609
Ensembl chr 8:31,814,551...32,884,797
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
smallpox term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf1 interferon regulatory factor 1 treatment ISO DNA:SNPs,haplotype: :rs839, rs9282763(human) RGD PMID:18454680 RGD:42722608 NCBI chr11:53,770,014...53,778,374
Ensembl chr11:53,770,014...53,778,374
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:SNP:exon:rs1801133(human) RGD PMID:18454680 RGD:42722608 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
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 IMP RGD PMID:19740386 RGD:7794681 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
Staphylococcal Skin Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17a interleukin 17A IMP RGD PMID:24614654 RGD:9068425 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Il18 interleukin 18 treatment IDA RGD PMID:21536791 RGD:8655921 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il33 interleukin 33 treatment IEP
IDA
mRNA,protein:increased expression:skin RGD PMID:23892028 PMID:23892028 RGD:40400893, RGD:40400893 NCBI chr19:29,925,113...29,960,718
Ensembl chr19:29,925,114...29,960,718
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ameliorates IMP RGD PMID:27524612 RGD:127229915 NCBI chr14:55,784,995...55,788,857
Ensembl chr14:55,784,995...55,788,865
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 severity IMP RGD PMID:25515118 RGD:36174009 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
strongyloidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il18 interleukin 18 treatment IDA RGD PMID:16129701 RGD:8655932 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il5 interleukin 5 severity IMP RGD PMID:9824515 RGD:11354934 NCBI chr11:53,720,794...53,725,103
Ensembl chr11:53,720,794...53,725,106
JBrowse link
tick infestation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha IEP RGD PMID:7835923 RGD:7794724 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
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 chemokine (C-C motif) ligand 11 IEP protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:16168564 RGD:7248410 NCBI chr11:82,057,832...82,062,955
Ensembl chr11:82,057,823...82,062,955
JBrowse link
toxocariasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4 interleukin 4 treatment ISO RGD PMID:26732352 RGD:11534298 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 IEP RGD PMID:25773181 RGD:40902825 NCBI chr16:91,225,550...91,228,677
Ensembl chr16:91,225,457...91,228,677
JBrowse link
visceral leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase IMP
IEP
mRNA:altered expression:Bcell,CD4Tcell RGD PMID:31001826 PMID:31001826 RGD:32716386, RGD:32716386 NCBI chr 6:122,553,809...122,564,180
Ensembl chr 6:122,553,801...122,564,180
JBrowse link
G Ccl4 chemokine (C-C motif) ligand 4 ISO protein:increased expression:serum RGD PMID:21991751 RGD:5683905 NCBI chr11:83,648,624...83,664,683
Ensembl chr11:83,662,584...83,664,683
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IEP
IMP
associated with Malnutrition;mRNA:increased expression:lymph node,spleen: RGD PMID:24818662 PMID:24818662 RGD:8661728, RGD:8661728 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Ccr3 chemokine (C-C motif) receptor 3 ISO protein:increased expression:blood, T cell RGD PMID:15379987 RGD:6893393 NCBI chr 9:124,017,825...124,031,692
Ensembl chr 9:124,021,972...124,031,689
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 treatment IMP RGD PMID:24617012 RGD:14401738 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:28355218 RGD:127345133 NCBI chr 6:124,304,636...124,330,529
Ensembl chr 6:124,304,656...124,330,527
JBrowse link
G Cd40 CD40 antigen treatment IMP RGD PMID:14573667 RGD:8547750 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand IMP RGD PMID:14573667 RGD:8547750 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:10467834 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17404324 PMID:8035028 RGD:10449527 NCBI chr11:54,247,270...54,249,899
Ensembl chr11:54,247,271...54,249,667
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 IEP mRNA:increased expression:liver RGD PMID:16239557 RGD:27095947 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:g.-251A>T (human)
CTD
RGD
PMID:22461696 PMID:32984951 PMID:25821028 RGD:150523791, RGD:150523789 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:enhancer: (rs9271858) (human)
CTD
RGD
PMID:23291585 PMID:23291585 RGD:127285406 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291585 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22461696 PMID:23729024 RGD:42724459 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Ifng interferon gamma treatment IDA
IEP
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013 RGD:8158041, RGD:40890273 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990 RGD:14975172 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15716043 NCBI chr 9:45,253,837...45,269,149
Ensembl chr 9:45,253,837...45,269,149
JBrowse link
G Il18 interleukin 18 susceptibility IMP RGD PMID:16879623 RGD:8655922 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il27 interleukin 27 IEP mRNA, protein:increased expression:spleen, liver (mouse) RGD PMID:27245409 RGD:126790520 NCBI chr 7:126,589,009...126,595,035
Ensembl chr 7:126,589,010...126,594,941
JBrowse link
G Il2rb interleukin 2 receptor, beta chain susceptibility ISO DNA:polymorphisms:exon:8777, 8838(human) RGD PMID:17108990 RGD:42724466 NCBI chr15:78,479,256...78,511,621
Ensembl chr15:78,479,256...78,495,271
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554475 PMID:17404324 PMID:22461696 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Irf5 interferon regulatory factor 5 IMP
IEP
protein:increased expression:CD4 T cell, nucleus RGD PMID:32038622 PMID:30067973 RGD:40924560, RGD:40924629 NCBI chr 6:29,526,130...29,541,869
Ensembl chr 6:29,526,625...29,541,871
JBrowse link
G Lta lymphotoxin A severity ISO
IMP
DNA:polymorphisms RGD PMID:12438370 PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Ltb lymphotoxin B IMP RGD PMID:12115620 RGD:8548822 NCBI chr17:35,194,507...35,196,305
Ensembl chr17:35,194,439...35,196,320
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 disease_progression
susceptibility
ISO protein:increased expression:serum:
DNA:SNPs,haplotype:promoter,exon:
DNA:polymorphism:promoter:
RGD PMID:17357060 PMID:26297290 PMID:26297290 PMID:22995279 PMID:17357060 RGD:8693721, RGD:11522692, RGD:11522692, RGD:8693726, RGD:8693721 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Mir155 microRNA 155 IMP RGD PMID:31182615 RGD:21081525 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Mir21a microRNA 21a treatment IEP RGD PMID:31608064 RGD:40925951 NCBI chr11:86,584,067...86,584,158
Ensembl chr11:86,584,067...86,584,158
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO RGD PMID:23729024 RGD:42724459 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment IMP RGD PMID:27999013 RGD:40890273 NCBI chr 4:149,649,168...149,702,566
Ensembl chr 4:149,649,168...149,702,571
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16597321 PMID:17067929 RGD:5684944 NCBI chr 1:74,375,014...74,386,057
Ensembl chr 1:74,375,195...74,386,062
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IMP RGD PMID:24242758 RGD:8661696 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression IMP RGD PMID:23589575 RGD:15090808 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tnf tumor necrosis factor severity ISO
IMP
DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 chemokine (C-X-C motif) receptor 4 ISO
IEA
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM:193670
CTD Direct Evidence: marker/mechanism
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by OMIM:193670
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr 1:128,588,199...128,592,299
Ensembl chr 1:128,588,199...128,592,293
JBrowse link
G Dars aspartyl-tRNA synthetase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,363,707...128,417,416
Ensembl chr 1:128,363,707...128,417,368
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 polypeptide ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:28492532 NCBI chr 8:122,424,771...122,432,940
Ensembl chr 8:122,424,776...122,432,930
JBrowse link
G Cybb cytochrome b-245, beta polypeptide treatment ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant
ClinVar Annotator: match by OMIM:306400
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:9,435,252...9,487,766
Ensembl chr  X:9,435,252...9,487,771
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:9,654,270...9,662,983
Ensembl chr  X:9,654,267...9,663,003
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:9,846,947...9,847,500
Ensembl chr  X:9,846,928...9,847,508
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:10,252,230...10,321,024
Ensembl chr  X:10,252,305...10,321,024
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:10,158,216...10,216,795
Ensembl chr  X:10,073,621...10,216,920
JBrowse link
G Srpx sushi-repeat-containing protein ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:10,037,977...10,117,640
Ensembl chr  X:10,037,977...10,117,709
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:9,747,622...9,998,864
Ensembl chr  X:9,885,622...9,994,543
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    sensory system disease 5514
      skin disease 2868
        Infectious Skin Diseases 246
          Bacterial Skin Diseases + 24
          Parasitic Skin Diseases + 72
          Viral Skin Diseases + 92
          cellulitis + 45
          dermatomycosis + 91
          paronychia 0
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14222
      nervous system disease 11653
        sensory system disease 5514
          skin disease 2868
            Infectious Skin Diseases 246
              Bacterial Skin Diseases + 24
              Parasitic Skin Diseases + 72
              Viral Skin Diseases + 92
              cellulitis + 45
              dermatomycosis + 91
              paronychia 0
paths to the root