RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | allergic disease |
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Accession: | DOID:1205
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browse the term
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Definition: | An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. (DO) |
Synonyms: | exact_synonym: | allergic hypersensitivity disease; allergic reaction; allergic reactions; allergies; allergy; hypersensitivities; hypersensitivity; hypersensitivity reaction type I disease |
| primary_id: | MESH:D006967 |
| xref: | ICD10CM:T78.40; NCI:C3114 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Abcf1 |
ATP-binding cassette, sub-family F (GCN20), member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr17:36,267,711...36,280,642
Ensembl chr17:36,267,711...36,280,653
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Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:10200023 |
RGD:8142344 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Agt |
angiotensinogen (serpin peptidase inhibitor, clade A, member 8) |
susceptibility |
ISO |
DNA:polymorphism: :p.M235T (human) |
RGD |
PMID:10200023 |
RGD:8142344 |
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Akr1b3 |
aldo-keto reductase family 1, member B3 (aldose reductase) |
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ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:16979157 |
RGD:1626088 |
NCBI chr 6:34,280,865...34,294,424
Ensembl chr 6:34,279,369...34,294,413
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Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8431628 |
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NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Bcl2a1b |
B cell leukemia/lymphoma 2 related protein A1b |
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IMP |
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RGD |
PMID:11733571 |
RGD:734640 |
NCBI chr 9:89,081,326...89,089,891
Ensembl chr 9:89,081,262...89,089,880
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Casp1 |
caspase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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Ccl11 |
chemokine (C-C motif) ligand 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl12 |
chemokine (C-C motif) ligand 12 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr11:81,992,671...81,994,225
Ensembl chr11:81,992,671...81,994,226
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Ccl17 |
chemokine (C-C motif) ligand 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccl19 |
chemokine (C-C motif) ligand 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577
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Ccl2 |
chemokine (C-C motif) ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15585374 PMID:21625544 |
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NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl20 |
chemokine (C-C motif) ligand 20 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccl24 |
chemokine (C-C motif) ligand 24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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Ccl3 |
chemokine (C-C motif) ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15585374 PMID:23624239 |
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NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181
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Ccl4 |
chemokine (C-C motif) ligand 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15585374 PMID:21625544 |
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NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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Ccl7 |
chemokine (C-C motif) ligand 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Ccl9 |
chemokine (C-C motif) ligand 9 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr11:83,463,743...83,469,462
Ensembl chr11:83,463,745...83,469,462
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Ccr1 |
chemokine (C-C motif) receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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Ccr2 |
chemokine (C-C motif) receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr6 |
chemokine (C-C motif) receptor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Ccr9 |
chemokine (C-C motif) receptor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:123,596,276...123,612,522
Ensembl chr 9:123,507,504...123,613,395
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Cd14 |
CD14 antigen |
resistance |
ISO |
DNA:polymorphism:promoter:c. -159C>T (human) |
RGD |
PMID:19222419 |
RGD:4144798 |
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cd274 |
CD274 antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20488241 PMID:23624239 |
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NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cd40lg |
CD40 ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr X:56,257,503...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Clec4a3 |
C-type lectin domain family 4, member a3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23624239 |
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NCBI chr 6:122,929,474...122,946,837
Ensembl chr 6:122,929,474...122,946,834
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Commd1 |
COMM domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22216203 |
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NCBI chr11:22,849,728...22,934,539
Ensembl chr11:22,846,136...22,932,382
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Cx3cl1 |
chemokine (C-X3-C motif) ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cxcl1 |
chemokine (C-X-C motif) ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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Cxcl15 |
chemokine (C-X-C motif) ligand 15 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Cxcl3 |
chemokine (C-X-C motif) ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
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Cxcl9 |
chemokine (C-X-C motif) ligand 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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Cxcr2 |
chemokine (C-X-C motif) receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,148...74,200,405
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Cxcr3 |
chemokine (C-X-C motif) receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19022366 |
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NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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Cysltr1 |
cysteinyl leukotriene receptor 1 |
severity |
ISO |
DNA:SNP: :927T>C (human) |
RGD |
PMID:16776674 |
RGD:4782072 |
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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Dsg1a |
desmoglein 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23974871 |
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NCBI chr18:20,443,930...20,476,410
Ensembl chr18:20,443,868...20,476,407
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Fcgr4 |
Fc receptor, IgG, low affinity IV |
treatment |
ISO |
associated with Purpura, Thrombocytopenic, Idiopathic |
RGD |
PMID:22025730 |
RGD:11352264 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Foxp3 |
forkhead box P3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27965764 |
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NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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Gstm1 |
glutathione S-transferase, mu 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:16580705 |
RGD:5490996 |
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstp1 |
glutathione S-transferase, pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:20526719 |
RGD:5133266 |
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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H2-Aa |
histocompatibility 2, class II antigen A, alpha |
susceptibility |
ISO |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD RGD |
PMID:8725357 PMID:15853900 PMID:10202362 PMID:16112029 |
RGD:5147651, RGD:5147866, RGD:5147826 |
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
susceptibility |
ISO |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD RGD |
PMID:8725357 PMID:20684489 PMID:10202362 PMID:16112029 PMID:10689122 PMID:15853900 More...
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RGD:5147606, RGD:5147866, RGD:5147826, RGD:5147814, RGD:5147651 |
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Ea |
histocompatibility 2, class II antigen E alpha |
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ISO |
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RGD |
PMID:9104792 |
RGD:5490205 |
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,933...34,563,619
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H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD RGD |
PMID:8725357 PMID:15853900 PMID:16112029 PMID:10689122 |
RGD:5147651, RGD:5147826, RGD:5147814 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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H2-M2 |
histocompatibility 2, M region locus 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23541086 |
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NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Icam1 |
intercellular adhesion molecule 1 |
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ISO |
associated with Giardiasis;protein:increased expression:serum |
RGD |
PMID:7524984 PMID:15587302 |
RGD:8158114, RGD:8547689 |
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:10886234 PMID:21625544 |
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NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il13 |
interleukin 13 |
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ISO |
DNA:SNP:promoter, 3' utr:-1055C>T, 4738G>A (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21625544 PMID:11588017 |
RGD:4765128 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il16 |
interleukin 16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23624239 |
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NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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Il17a |
interleukin 17A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il1r1 |
interleukin 1 receptor, type I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Il1r2 |
interleukin 1 receptor, type II |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 1:40,123,872...40,164,390
Ensembl chr 1:40,113,239...40,164,391
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Il2 |
interleukin 2 |
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IMP |
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RGD |
PMID:21509781 |
RGD:5147912 |
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il2rb |
interleukin 2 receptor, beta chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
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Il4 |
interleukin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16095146 PMID:21625544 |
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NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il5ra |
interleukin 5 receptor, alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 6:106,687,336...106,725,998
Ensembl chr 6:106,687,318...106,725,998
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6st |
interleukin 6 signal transducer |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620
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Itgb2 |
integrin beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Kng2 |
kininogen 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11160071 |
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NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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Lta |
lymphotoxin A |
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ISO |
DNA:polymorphism, haplotype associated with Nasal Polyps |
RGD |
PMID:11591192 PMID:22545387 |
RGD:8548785, RGD:8548802 |
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Map2k6 |
mitogen-activated protein kinase kinase 6 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21544193 |
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NCBI chr11:110,289,928...110,416,348
Ensembl chr11:110,289,948...110,416,348
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Mif |
macrophage migration inhibitory factor (glycosylation-inhibiting factor) |
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ISO |
DNA:polymorphisms:promoter: |
RGD |
PMID:14962818 |
RGD:4891046 |
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16766537 |
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NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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Mylk |
myosin, light polypeptide kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15621374 |
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NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
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Pf4 |
platelet factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:90,920,294...90,921,242
Ensembl chr 5:90,920,294...90,921,242
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Ppbp |
pro-platelet basic protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23624239 |
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NCBI chr 5:90,916,377...90,917,922
Ensembl chr 5:90,916,377...90,917,922
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Selp |
selectin, platelet |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12929084 |
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NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Spp1 |
secreted phosphoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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G |
Tac1 |
tachykinin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11160071 |
|
NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
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G |
Tap1 |
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
|
ISO |
DNA:polymorphism, haplotype: :p.V333I (human) |
RGD |
PMID:11591192 |
RGD:8548785 |
NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138248 PMID:21625544 |
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NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16095146 PMID:21625544 |
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NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
|
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
|
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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G |
H2-M2 |
histocompatibility 2, M region locus 2 |
|
ISO |
ClinVar Annotator: match by term: Abacavir hypersensitivity |
ClinVar OMIM |
PMID:11888582 PMID:11943262 PMID:12462283 PMID:15024131 PMID:15247624 PMID:15247625 PMID:18256392 PMID:19483685 More...
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NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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G |
F12 |
coagulation factor XII (Hageman factor) |
disease_progression |
ISO |
|
RGD |
PMID:9129025 |
RGD:11565081 |
NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606
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|
G |
F2 |
coagulation factor II |
disease_progression |
ISO |
protein:increased expression:plasma: |
RGD |
PMID:9129025 |
RGD:11565081 |
NCBI chr 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
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G |
F7 |
coagulation factor VII |
disease_progression |
ISO |
|
RGD |
PMID:9129025 |
RGD:11565081 |
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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G |
G6pdx |
glucose-6-phosphate dehydrogenase X-linked |
|
ISO |
ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors |
ClinVar |
PMID:1551674 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2503817 PMID:2912069 PMID:3393536 PMID:4974311 PMID:5305539 PMID:5369703 PMID:6698555 PMID:7203486 PMID:8611726 PMID:8860013 PMID:9342374 PMID:11445808 PMID:12768444 PMID:14278484 PMID:15315792 PMID:15502081 PMID:16119988 PMID:19594365 PMID:22018328 PMID:22906047 PMID:23479361 PMID:24460025 PMID:24586352 PMID:25326637 PMID:25741868 PMID:28492532 PMID:32860008 More...
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NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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G |
Kng2 |
kininogen 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9734886 |
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NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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G |
Serping1 |
serine (or cysteine) peptidase inhibitor, clade G, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:9734886 PMID:23406939 |
|
NCBI chr 2:84,595,704...84,605,778
Ensembl chr 2:84,595,731...84,605,788
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G |
Xpnpep2 |
X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound |
susceptibility |
ISO |
ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:16175507 PMID:20625347 PMID:21898657 |
|
NCBI chr X:47,195,790...47,225,859
Ensembl chr X:47,197,602...47,225,858
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G |
Cxcl15 |
chemokine (C-X-C motif) ligand 15 |
treatment |
ISO |
|
RGD |
PMID:30059697 |
RGD:39939057 |
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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|
G |
Ccl26 |
chemokine (C-C motif) ligand 26 |
treatment |
IDA |
|
RGD |
PMID:25530546 |
RGD:11081163 |
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
treatment |
IMP |
|
RGD |
PMID:23933317 |
RGD:40903070 |
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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G |
Epx |
eosinophil peroxidase |
|
ISO |
protein:increased expression:urine: |
RGD |
PMID:11846868 |
RGD:13506893 |
NCBI chr11:87,754,824...87,766,362
Ensembl chr11:87,754,826...87,766,362
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|
G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO |
|
RGD |
PMID:22397267 |
RGD:13506905 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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G |
H2-M2 |
histocompatibility 2, M region locus 2 |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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G |
H2-Pa |
histocompatibility 2, P region alpha locus |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr17:34,303,587...34,304,826
Ensembl chr17:34,303,575...34,304,797
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G |
Il25 |
interleukin 25 |
treatment |
IMP |
|
RGD |
PMID:17889290 |
RGD:40902975 |
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
exacerbates |
IEP IDA |
|
RGD |
PMID:21592044 PMID:21592044 |
RGD:126928124, RGD:126928124 |
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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G |
Ccl17 |
chemokine (C-C motif) ligand 17 |
|
ISO |
associated with Cystic Fibrosis |
RGD |
PMID:17898016 |
RGD:4145612 |
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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G |
Ccr1 |
chemokine (C-C motif) receptor 1 |
|
IMP |
|
RGD |
PMID:15951834 |
RGD:5688155 |
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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G |
Ccr2 |
chemokine (C-C motif) receptor 2 |
|
IMP |
|
RGD |
PMID:10946288 |
RGD:8661731 |
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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G |
Cftr |
cystic fibrosis transmembrane conductance regulator |
|
ISO |
DNA:mutations: : |
RGD |
PMID:11243954 |
RGD:4140482 |
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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G |
H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
susceptibility |
ISO |
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) |
RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO |
associated with cystic fibrosis; DNA:polymorphisms: : |
RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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G |
Icam1 |
intercellular adhesion molecule 1 |
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IEP |
|
RGD |
PMID:7743671 |
RGD:8547590 |
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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G |
Il1a |
interleukin 1 alpha |
|
IEP |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
susceptibility |
ISO |
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human) |
RGD |
PMID:11474427 PMID:16487239 |
RGD:4889577, RGD:8693711 |
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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G |
Tlr9 |
toll-like receptor 9 |
susceptibility |
ISO IMP |
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) |
RGD |
PMID:18275280 PMID:18936185 |
RGD:5130863, RGD:5130858 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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G |
Tnf |
tumor necrosis factor |
|
IEP |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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G |
Tnfrsf1a |
tumor necrosis factor receptor superfamily, member 1a |
susceptibility |
ISO |
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) |
RGD |
PMID:20646338 |
RGD:5131174 |
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
|
ISO |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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G |
Ccl2 |
chemokine (C-C motif) ligand 2 |
|
IMP |
|
RGD |
PMID:19553621 |
RGD:8548840 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
ISO |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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G |
Ccl7 |
chemokine (C-C motif) ligand 7 |
|
ISO |
protein:increased expression:conjunctiva |
RGD |
PMID:11090473 |
RGD:6483824 |
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
IMP |
|
RGD |
PMID:18658092 |
RGD:6893389 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:8766745 |
RGD:8547686 |
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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G |
Ifng |
interferon gamma |
|
ISO IMP |
|
RGD |
PMID:12234900 PMID:16123425 |
RGD:8142386, RGD:8142391 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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G |
Il10 |
interleukin 10 |
treatment |
ISO IMP |
protein:increased expression:tear |
RGD |
PMID:22092652 PMID:16914468 PMID:15144463 PMID:19060266 |
RGD:7364837, RGD:11041889, RGD:7365076, RGD:7365027 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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G |
Il13 |
interleukin 13 |
|
ISO |
associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) |
RGD |
PMID:9191598 PMID:22023794 |
RGD:8549533, RGD:8549595 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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G |
Il1b |
interleukin 1 beta |
treatment |
IEP |
|
RGD |
PMID:9326725 |
RGD:7401198 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il1rn |
interleukin 1 receptor antagonist |
treatment |
ISO |
human protein in a mouse model |
RGD |
PMID:10549671 |
RGD:8549802 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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G |
Il4ra |
interleukin 4 receptor, alpha |
susceptibility |
ISO |
associated with rhinitis; DNA:SNP: : rs2107356 (human) |
RGD |
PMID:20002627 |
RGD:4890389 |
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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G |
Irf1 |
interferon regulatory factor 1 |
|
ISO |
|
RGD |
PMID:14605445 |
RGD:5128787 |
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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G |
Lck |
lymphocyte protein tyrosine kinase |
|
ISO |
protein:increased phosphorylation:T cell |
RGD |
PMID:14507881 |
RGD:1600225 |
NCBI chr 4:129,442,137...129,467,434
Ensembl chr 4:129,442,137...129,467,434
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G |
Muc1 |
mucin 1, transmembrane |
severity |
ISO |
|
RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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G |
Muc2 |
mucin 2 |
severity |
ISO |
|
RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
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G |
Muc4 |
mucin 4 |
severity |
ISO IEP |
|
RGD |
PMID:17177679 PMID:11581187 |
RGD:7349351, RGD:7349400 |
NCBI chr16:32,555,089...32,602,761
Ensembl chr16:32,555,015...32,602,754
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G |
Pla2g2a |
phospholipase A2, group IIA (platelets, synovial fluid) |
|
ISO |
protein:increased expression:body fluid or substance |
RGD |
PMID:21042565 |
RGD:6482725 |
NCBI chr 4:138,559,168...138,562,500
Ensembl chr 4:138,559,171...138,562,497
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
IMP |
|
RGD |
PMID:16914468 |
RGD:11041889 |
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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G |
Tlr2 |
toll-like receptor 2 |
|
IMP |
associated with Staphylococcal Infections; |
RGD |
PMID:19358332 |
RGD:8552826 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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G |
Tlr4 |
toll-like receptor 4 |
|
IMP ISO |
mRNA,protein:increased expression:conjunctiva: |
RGD |
PMID:21820713 PMID:16023216 PMID:21391988 |
RGD:7777131, RGD:7794849, RGD:7794770 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:decreased expression:conjunctiva: |
RGD |
PMID:16023216 |
RGD:7794849 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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G |
Tnc |
tenascin C |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18305139 |
RGD:4889589 |
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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|
G |
Abca6 |
ATP-binding cassette, sub-family A (ABC1), member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr11:110,065,464...110,142,811
Ensembl chr11:110,067,646...110,142,602
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G |
Asrgl1 |
asparaginase like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr19:9,089,083...9,112,930
Ensembl chr19:9,087,232...9,113,000
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G |
Bcl2 |
B cell leukemia/lymphoma 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr13:38,529,692...38,684,290
Ensembl chr13:38,529,083...38,684,278
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G |
Calcrl |
calcitonin receptor-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 2:84,160,970...84,255,786
Ensembl chr 2:84,160,970...84,255,755
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G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:58,834,398...58,886,662
Ensembl chr 1:58,834,533...58,886,662
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G |
Ccl17 |
chemokine (C-C motif) ligand 17 |
|
IEP |
|
RGD |
PMID:15491423 |
RGD:1626251 |
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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G |
Ccl19 |
chemokine (C-C motif) ligand 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577
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G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
IEP |
protein:increased expression:ear (mouse) |
RGD |
PMID:15491423 |
RGD:1626251 |
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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G |
Ccr1 |
chemokine (C-C motif) receptor 1 |
|
ISO |
|
RGD |
PMID:18844696 |
RGD:5688176 |
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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G |
Ccr2 |
chemokine (C-C motif) receptor 2 |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17374397 PMID:10899907 |
RGD:8661227 |
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
IDA |
|
RGD |
PMID:22075493 |
RGD:6892916 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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G |
Ccr5 |
chemokine (C-C motif) receptor 5 |
|
ISO |
mRNA:increased expression:skin, lymph node (rat) |
RGD |
PMID:16977379 |
RGD:2325935 |
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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G |
Cd36 |
CD36 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 5:17,986,688...18,093,957
Ensembl chr 5:17,986,688...18,093,799
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G |
Cd3d |
CD3 antigen, delta polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637
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G |
Cidec |
cell death-inducing DFFA-like effector c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721
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G |
Cish |
cytokine inducible SH2-containing protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 9:107,173,858...107,179,983
Ensembl chr 9:107,173,225...107,179,983
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G |
Cntn3 |
contactin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 6:102,140,265...102,541,575
Ensembl chr 6:102,139,616...102,550,062
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G |
Crem |
cAMP responsive element modulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr18:3,263,181...3,337,688
Ensembl chr18:3,266,048...3,337,748
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G |
Ctsc |
cathepsin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 7:87,927,220...87,965,069
Ensembl chr 7:87,927,293...87,960,096
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G |
Cxcl2 |
chemokine (C-X-C motif) ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23178550 |
|
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:19022366 |
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NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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G |
Emb |
embigin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr13:117,357,109...117,410,951
Ensembl chr13:117,345,072...117,410,951
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G |
Ets2 |
E26 avian leukemia oncogene 2, 3' domain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr16:95,503,274...95,522,093
Ensembl chr16:95,502,942...95,522,095
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G |
F13a1 |
coagulation factor XIII, A1 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
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G |
Fgl2 |
fibrinogen-like protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 5:21,577,671...21,583,384
Ensembl chr 5:21,577,640...21,583,372
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G |
Flt1 |
FMS-like tyrosine kinase 1 |
|
ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 |
RGD:7421586 |
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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G |
Fyb |
FYN binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr15:6,552,280...6,695,089
Ensembl chr15:6,552,334...6,692,794
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr19:4,336,027...4,356,350
Ensembl chr19:4,336,029...4,356,250
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:192,903,948...192,946,353
Ensembl chr 1:192,903,942...192,946,383
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G |
Ifi30 |
interferon gamma inducible protein 30 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 8:71,215,418...71,219,307
Ensembl chr 8:71,215,419...71,219,307
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|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:12484431 PMID:15347381 |
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NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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G |
Igsf6 |
immunoglobulin superfamily, member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 7:120,663,290...120,673,753
Ensembl chr 7:120,663,290...120,673,795
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G |
Il10 |
interleukin 10 |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15347381 PMID:23760007 |
RGD:7364806 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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|
G |
Il18 |
interleukin 18 |
treatment |
IEP ISO IMP |
mRNA:increased expression:skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27585668 PMID:9781803 PMID:12874202 |
RGD:8655902, RGD:8655940 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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G |
Il18bp |
interleukin 18 binding protein |
treatment |
ISO |
|
RGD |
PMID:12874202 |
RGD:8655940 |
NCBI chr 7:101,664,281...101,669,699
Ensembl chr 7:101,664,092...101,667,897
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23178550 |
|
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:22245253 |
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NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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G |
Il2ra |
interleukin 2 receptor, alpha chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12484431 PMID:21804303 |
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NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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G |
Il5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15347381 |
|
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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G |
Ipcef1 |
interaction protein for cytohesin exchange factors 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr10:6,835,779...6,973,185
Ensembl chr10:6,835,796...7,002,478
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G |
Itgam |
integrin alpha M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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G |
Jam2 |
junction adhesion molecule 2 |
|
IMP |
|
RGD |
PMID:16297198 |
RGD:7488919 |
NCBI chr16:84,571,011...84,623,268
Ensembl chr16:84,571,011...84,622,816
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G |
Jam3 |
junction adhesion molecule 3 |
|
IMP |
|
RGD |
PMID:16297198 |
RGD:7488919 |
NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717
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|
G |
Kdr |
kinase insert domain protein receptor |
|
ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 |
RGD:7421586 |
NCBI chr 5:76,093,487...76,139,885
Ensembl chr 5:76,093,487...76,139,118
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|
G |
Kmo |
kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:175,459,759...175,488,419
Ensembl chr 1:175,447,947...175,489,682
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G |
Mc1r |
melanocortin 1 receptor |
|
IEP |
|
RGD |
PMID:20126537 |
RGD:5687319 |
NCBI chr 8:124,133,821...124,137,483
Ensembl chr 8:124,133,846...124,137,483
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|
G |
Meox1 |
mesenchyme homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr11:101,768,336...101,785,309
Ensembl chr11:101,768,336...101,785,200
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G |
Mir155 |
microRNA 155 |
treatment |
ISO |
|
RGD |
PMID:29404871 |
RGD:21079472 |
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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|
G |
Mir21a |
microRNA 21a |
treatment |
ISO |
|
RGD |
PMID:29282578 |
RGD:41404666 |
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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G |
Mki67 |
antigen identified by monoclonal antibody Ki 67 |
|
IDA |
|
RGD |
PMID:21294775 |
RGD:6483538 |
NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
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|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO IMP |
mRNA:increased expression:skin, lymph node |
RGD |
PMID:16977379 PMID:10359808 |
RGD:2325935, RGD:8693317 |
NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO IMP |
mRNA:increased expression:skin, lymph node |
RGD |
PMID:16977379 PMID:10359808 PMID:10415717 |
RGD:2325935, RGD:8693317, RGD:8547869 |
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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|
G |
Mrc1 |
mannose receptor, C type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
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|
G |
Mxd1 |
MAX dimerization protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 6:86,624,026...86,646,217
Ensembl chr 6:86,624,024...86,646,143
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|
G |
Nampt |
nicotinamide phosphoribosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
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|
G |
Nat1 |
N-acetyl transferase 1 |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:19663877 |
RGD:8552666 |
NCBI chr 8:67,943,620...67,945,183
Ensembl chr 8:67,933,573...67,944,756
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|
G |
Nat2 |
N-acetyltransferase 2 (arylamine N-acetyltransferase) |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:16533241 |
RGD:8552663 |
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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|
G |
Nfe2l2 |
nuclear factor, erythroid derived 2, like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23564646 |
|
NCBI chr 2:75,505,857...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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G |
Ninj1 |
ninjurin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr13:49,341,005...49,349,727
Ensembl chr13:49,340,961...49,349,720
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|
G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 7:101,583,169...101,664,166
Ensembl chr 7:101,583,318...101,664,171
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G |
Ogg1 |
8-oxoguanine DNA-glycosylase 1 |
|
IMP |
|
RGD |
PMID:15677345 |
RGD:8657146 |
NCBI chr 6:113,303,871...113,311,838
Ensembl chr 6:113,303,933...113,312,029
|
|
G |
Phlda1 |
pleckstrin homology like domain, family A, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr10:111,342,147...111,344,510
Ensembl chr10:111,342,147...111,344,506
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|
G |
Pim1 |
proviral integration site 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086
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|
G |
Plat |
plasminogen activator, tissue |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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|
G |
Prdx4 |
peroxiredoxin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr X:154,106,914...154,125,268
Ensembl chr X:154,106,914...154,123,750
|
|
G |
Qpct |
glutaminyl-peptide cyclotransferase (glutaminyl cyclase) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr17:79,359,335...79,397,807
Ensembl chr17:79,359,335...79,397,807
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|
G |
Rab32 |
RAB32, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr10:10,420,783...10,433,951
Ensembl chr10:10,420,746...10,434,009
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|
G |
Rgs1 |
regulator of G-protein signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:144,120,407...144,124,862
Ensembl chr 1:144,118,034...144,124,980
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|
G |
Sat1 |
spermidine/spermine N1-acetyl transferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr X:153,996,122...153,999,445
Ensembl chr X:153,996,128...153,999,445
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|
G |
Sele |
selectin, endothelial cell |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,803...163,885,246
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|
G |
Slc2a3 |
solute carrier family 2 (facilitated glucose transporter), member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 6:122,704,768...122,779,322
Ensembl chr 6:122,704,768...122,778,599
|
|
G |
Slc7a5 |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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|
G |
Socs1 |
suppressor of cytokine signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
|
|
G |
Socs2 |
suppressor of cytokine signaling 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr10:95,219,765...95,253,176
Ensembl chr10:95,221,224...95,253,042
|
|
G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14555839 |
|
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
|
|
G |
St6gal1 |
beta galactoside alpha 2,6 sialyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr16:23,043,478...23,179,100
Ensembl chr16:23,043,490...23,179,100
|
|
G |
Stac |
src homology three (SH3) and cysteine rich domain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 9:111,386,476...111,519,673
Ensembl chr 9:111,390,505...111,519,416
|
|
G |
Tap2 |
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) |
susceptibility |
ISO |
|
RGD |
PMID:9303338 |
RGD:6482276 |
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO IMP |
|
RGD |
PMID:20711192 PMID:18725520 |
RGD:7777133, RGD:7794737 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
|
|
G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr X:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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|
G |
Tmsb10 |
thymosin, beta 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 6:72,934,330...72,935,731
Ensembl chr 6:72,934,330...72,935,731
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15849067 |
|
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
|
|
G |
Tnfaip6 |
tumor necrosis factor alpha induced protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 PMID:17374397 |
|
NCBI chr 2:51,928,125...51,946,693
Ensembl chr 2:51,928,021...51,946,698
|
|
G |
Tslp |
thymic stromal lymphopoietin |
treatment |
IEP |
|
RGD |
PMID:30187507 |
RGD:38596345 |
NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850
|
|
G |
Upp1 |
uridine phosphorylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr11:9,068,008...9,086,170
Ensembl chr11:9,068,103...9,086,170
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 PMID:7876550 |
RGD:7421586, RGD:7421586 |
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
|
|
|
G |
Csf3 |
colony stimulating factor 3 (granulocyte) |
treatment |
ISO |
associated with Severe Congenital Neutropenia; |
RGD |
PMID:20100783 |
RGD:11039037 |
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
|
|
|
G |
Abcb1a |
ATP-binding cassette, sub-family B (MDR/TAP), member 1A |
severity |
ISO |
DNA:snp:exon:c.1236C>T (human) |
RGD |
PMID:24040855 |
RGD:8657076 |
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
|
|
G |
Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
no_association |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15112973 |
RGD:8142345 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
|
|
G |
Bcl2 |
B cell leukemia/lymphoma 2 |
|
ISO |
mRNA, protein:increased expression:nasal mucosa (rat) |
RGD |
PMID:15362690 |
RGD:11522724 |
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
|
|
G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29028686 |
|
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
|
|
G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
treatment |
ISO |
|
RGD |
PMID:23089405 |
RGD:7248414 |
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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|
G |
Ccl26 |
chemokine (C-C motif) ligand 26 |
|
ISO |
protein:increased expression:oronasal secretion (human) |
RGD |
PMID:23883806 |
RGD:7364793 |
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
|
|
G |
Cd40 |
CD40 antigen |
|
ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr X:56,257,503...56,269,402
Ensembl chr X:56,257,503...56,269,402
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
IDA |
|
RGD |
PMID:10436391 |
RGD:11344920 |
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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|
G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:21711961 |
RGD:5147783 |
NCBI chr 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
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|
G |
Fcgr4 |
Fc receptor, IgG, low affinity IV |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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|
G |
H2-M3 |
histocompatibility 2, M region locus 3 |
|
ISO |
|
RGD |
PMID:20487636 |
RGD:5144132 |
NCBI chr17:37,581,094...37,585,376
Ensembl chr17:37,581,111...37,585,375
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G |
Hrh1 |
histamine receptor H1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23333628 |
|
NCBI chr 6:114,374,897...114,460,259
Ensembl chr 6:114,374,897...114,460,257
|
|
G |
Ifng |
interferon gamma |
treatment |
ISO |
associated with Asthma |
RGD |
PMID:12787306 PMID:18510219 |
RGD:7829803, RGD:10755770 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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|
G |
Il10 |
interleukin 10 |
treatment |
ISO IDA |
|
RGD |
PMID:23883806 PMID:23253209 |
RGD:7364793, RGD:7364818 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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|
G |
Il13 |
interleukin 13 |
susceptibility no_association |
ISO |
DNA:polymorphism:exon:c. 2044G>A (human) ClinVar Annotator: match by term: Allergic rhinitis CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R130Q (rs20541) (human) DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) DNA:SNP:promoter:-1512A>C (rs1881457) (human) |
ClinVar CTD OMIM RGD |
PMID:10699178 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716 More...
|
RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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|
G |
Il13ra2 |
interleukin 13 receptor, alpha 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 |
RGD:8549521 |
NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188
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|
G |
Il17a |
interleukin 17A |
susceptibility |
ISO |
DNA:snp:promoter:c.-444A>G (human) mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:22507625 PMID:21535180 |
RGD:9068429, RGD:5147409 |
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
|
|
G |
Il18 |
interleukin 18 |
severity no_association |
ISO |
DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human) |
RGD |
PMID:22840759 PMID:22840759 |
RGD:8655914, RGD:8655914 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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|
G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:7750009 |
RGD:7401199 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:12592663 |
RGD:8662963 |
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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|
G |
Il4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048 |
RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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G |
Il5 |
interleukin 5 |
treatment |
ISO |
|
RGD |
PMID:23934070 PMID:24620662 |
RGD:11354976, RGD:11522769 |
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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|
G |
Itgb2 |
integrin beta 2 |
treatment |
ISO |
|
RGD |
PMID:12046991 |
RGD:9698435 |
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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|
G |
Muc1 |
mucin 1, transmembrane |
severity |
ISO |
mRNA,protein:decreased expression:nasal mucosa |
RGD |
PMID:31425778 PMID:31425778 PMID:31425778 |
RGD:127345100, RGD:127345100, RGD:127345100 |
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
|
|
G |
Muc5ac |
mucin 5, subtypes A and C, tracheobronchial/gastric |
|
ISO |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:22972875 |
RGD:7364746 |
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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|
G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
mRNA:increased expression:nasal mucosa (human) |
RGD |
PMID:23858718 |
RGD:8547523 |
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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|
G |
Pon1 |
paraoxonase 1 |
severity |
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:23406590 |
RGD:8547583 |
NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
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|
G |
Prkg1 |
protein kinase, cGMP-dependent, type I |
|
ISO |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:24012634 |
RGD:7775060 |
NCBI chr19:30,541,887...31,742,667
Ensembl chr19:30,541,889...31,742,433
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16979129 |
|
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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G |
Scgb1a1 |
secretoglobin, family 1A, member 1 (uteroglobin) |
|
IEP |
mRNA:decreased expression:nasal mucosa, lung |
RGD |
PMID:17882576 |
RGD:5144135 |
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility |
ISO |
DNA:SNP: :rs7726552 (human) |
RGD |
PMID:21410962 |
RGD:5144225 |
NCBI chr18:43,897,346...43,900,464
Ensembl chr18:43,897,354...43,900,464
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G |
Serpine1 |
serine (or cysteine) peptidase inhibitor, clade E, member 1 |
|
IEP |
mRNA:increased expression:nasal mucosa (mouse) |
RGD |
PMID:21339035 |
RGD:8547809 |
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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G |
Tacr1 |
tachykinin receptor 1 |
|
ISO |
mRNA:increased expression:nasal mucosa |
RGD |
PMID:12768696 |
RGD:5147835 |
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
|
RGD |
PMID:31368266 |
RGD:14995445 |
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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|
G |
Tlr2 |
toll-like receptor 2 |
severity |
ISO IDA |
DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa: |
RGD |
PMID:22402138 PMID:22555057 PMID:18381801 PMID:18219831 |
RGD:7800732, RGD:8552993, RGD:8552972, RGD:7800742 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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G |
Tlr4 |
toll-like receptor 4 |
severity treatment susceptibility no_association |
ISO |
DNA:polymorphism:cds:p.D299G(human) protein:increased expression:nasal lavage,leukocyte, bone marrow: protein:decreased expression:nasal mucosa: DNA:SNP: :rs1927911(human) DNA:polymorphism: :4216G>C(human) |
RGD |
PMID:22402138 PMID:22555057 PMID:22577387 PMID:17069098 PMID:23639307 PMID:19763595 More...
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RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354 |
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
protein:decreased expression:nasal mucosa: |
RGD |
PMID:22577387 |
RGD:7800740 |
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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|
|
G |
Cyp2c38 |
cytochrome P450, family 2, subfamily c, polypeptide 38 |
treatment |
ISO |
associated with Eosinophilic Esophagitis; DNA:polymorphisms:: |
RGD |
PMID:26416193 |
RGD:11352743 |
NCBI chr19:39,378,000...39,451,547
Ensembl chr19:39,378,000...39,451,519
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|
G |
Cyp2c66 |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
treatment |
ISO |
associated with Eosinophilic Esophagitis; DNA:polymorphisms:: |
RGD |
PMID:26416193 |
RGD:11352743 |
NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516
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G |
Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) |
RGD |
PMID:23953855 |
RGD:13506915 |
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
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G |
Adrb1 |
adrenergic receptor, beta 1 |
disease_progression |
ISO |
|
RGD |
PMID:20959119 |
RGD:6893644 |
NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545
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G |
Agt |
angiotensinogen (serpin peptidase inhibitor, clade A, member 8) |
|
ISO |
|
RGD |
PMID:1422942 |
RGD:8548893 |
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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|
G |
Aspg |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:65671 |
|
NCBI chr12:112,073,117...112,094,007
Ensembl chr12:112,073,113...112,093,993
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|
G |
Btk |
Bruton agammaglobulinemia tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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|
G |
Cabs1 |
calcium binding protein, spermatid specific 1 |
treatment |
ISO |
|
RGD |
PMID:25632019 |
RGD:14400306 |
NCBI chr 5:88,127,310...88,129,400
Ensembl chr 5:88,127,298...88,129,403
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G |
Cma1 |
chymase 1, mast cell |
|
ISO |
protein:increased expression:lung, mast cell (human) |
RGD |
PMID:17081716 |
RGD:5128820 |
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
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G |
Fcgr3 |
Fc receptor, IgG, low affinity III |
susceptibility |
ISO |
associated with Agammaglobulinemia;DNA:mutation:splice junction: |
RGD |
PMID:23545275 PMID:26396093 |
RGD:11040993, RGD:11040995 |
NCBI chr 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504
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|
G |
Grap2 |
GRB2-related adaptor protein 2 |
ameliorates |
IMP |
|
RGD |
PMID:18664516 |
RGD:126790488 |
NCBI chr15:80,456,798...80,537,055
Ensembl chr15:80,456,795...80,537,055
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G |
Hdac3 |
histone deacetylase 3 |
|
IMP |
|
RGD |
PMID:24619412 |
RGD:9590165 |
NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
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G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:12147031 |
RGD:11041789 |
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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G |
Il4 |
interleukin 4 |
|
IEP ISO |
mRNA:increased expression:lung, intestine, spleen associated with cystic echinococcosis; protein:increased expression:blood |
RGD |
PMID:24468678 PMID:28095662 |
RGD:10402796, RGD:14696684 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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G |
Kng2 |
kininogen 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7623993 |
|
NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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|
G |
Ltb4r1 |
leukotriene B4 receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10934231 |
|
NCBI chr14:56,003,419...56,005,949
Ensembl chr14:56,003,419...56,005,951
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G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19767079 |
|
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
ISO |
|
RGD |
PMID:18480553 |
RGD:2300247 |
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO IMP |
|
RGD |
PMID:18480553 PMID:17822719 |
RGD:2300247, RGD:1642600 |
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:21604443 |
RGD:7207802 |
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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|
G |
Wfdc6a |
WAP four-disulfide core domain 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20693069 |
|
NCBI chr 2:164,421,439...164,427,704
Ensembl chr 2:164,421,439...164,427,367
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8458210 |
|
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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G |
F12 |
coagulation factor XII (Hageman factor) |
|
ISO |
DNA:missense:exon:T309K,T309R ClinVar Annotator: match by term: Angioedema |
ClinVar RGD |
PMID:16638441 PMID:25741868 PMID:16638441 |
RGD:1601106 |
NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606
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|
G |
H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15784113 |
|
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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|
G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15784113 |
|
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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G |
Plat |
plasminogen activator, tissue |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16184341 PMID:18453163 PMID:20547619 |
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NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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|
G |
Serping1 |
serine (or cysteine) peptidase inhibitor, clade G, member 1 |
susceptibility |
ISO |
DNA:mutations:exon ClinVar Annotator: match by term: Angioedema |
ClinVar RGD |
PMID:12402344 |
RGD:1600545 |
NCBI chr 2:84,595,704...84,605,778
Ensembl chr 2:84,595,731...84,605,788
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|
G |
Slc34a1 |
solute carrier family 34 (sodium phosphate), member 1 |
|
ISO |
ClinVar Annotator: match by term: Angioedema |
ClinVar |
PMID:16638441 PMID:25741868 |
|
NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405
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|
G |
Sytl2 |
synaptotagmin-like 2 |
|
ISO |
ClinVar Annotator: match by term: Angioedema |
ClinVar |
PMID:28327206 |
|
NCBI chr 7:89,951,421...90,059,927
Ensembl chr 7:89,951,460...90,059,927
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|
G |
Xpnpep2 |
X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16175507 |
|
NCBI chr X:47,195,790...47,225,859
Ensembl chr X:47,197,602...47,225,858
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|
|
G |
Btk |
Bruton agammaglobulinemia tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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|
G |
Cfd |
complement factor D (adipsin) |
|
ISO |
|
RGD |
PMID:10605043 |
RGD:1624328 |
NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489
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|
G |
Cx3cr1 |
chemokine (C-X3-C motif) receptor 1 |
|
IMP |
|
RGD |
PMID:23470165 |
RGD:9068463 |
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,730,682...119,898,945
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G |
Fcgr3 |
Fc receptor, IgG, low affinity III |
treatment |
ISO |
|
RGD |
PMID:10762218 |
RGD:9588604 |
NCBI chr 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504
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|
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G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
DNA:SNP:promoter:-374T>A (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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|
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
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G |
Ccr7 |
chemokine (C-C motif) receptor 7 |
|
IMP |
associated with Neutropenia |
RGD |
PMID:19783686 |
RGD:5130908 |
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
|
|
G |
Cd209d |
CD209d antigen |
|
ISO |
|
RGD |
PMID:21381282 |
RGD:5131183 |
NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555
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|
G |
Cftr |
cystic fibrosis transmembrane conductance regulator |
severity |
IMP |
|
RGD |
PMID:22135344 |
RGD:35673332 |
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
|
|
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 6:129,403,647...129,428,963
Ensembl chr 6:129,401,735...129,428,963
|
|
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 6:129,438,554...129,449,748
Ensembl chr 6:129,438,554...129,449,742
|
|
G |
Crp |
C-reactive protein, pentraxin-related |
treatment |
ISO |
|
RGD |
PMID:20879853 |
RGD:9495929 |
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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|
G |
Il15 |
interleukin 15 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:16893395 |
RGD:4981337 |
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
|
|
G |
Mbl1 |
mannose-binding lectin (protein A) 1 |
susceptibility |
IMP |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr14:40,873,413...40,885,861
Ensembl chr14:40,873,415...40,881,558
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|
G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
susceptibility |
IMP |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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|
G |
S100b |
S100 protein, beta polypeptide, neural |
|
ISO |
DNA:SNP: :427C>T (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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|
G |
Tlr1 |
toll-like receptor 1 |
susceptibility |
ISO |
DNA:SNPs: :p.R80T, p.N248S (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
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|
G |
Tlr2 |
toll-like receptor 2 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:19781388 |
RGD:4145322 |
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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|
G |
Tlr6 |
toll-like receptor 6 |
susceptibility |
ISO |
DNA:SNP: :p.S249P (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr 5:65,109,379...65,128,387
Ensembl chr 5:65,109,374...65,117,440
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|
|
G |
Cacng6 |
calcium channel, voltage-dependent, gamma subunit 6 |
susceptibility |
ISO |
DNA:SNP,haplotype:rs192808(human) |
RGD |
PMID:20860846 |
RGD:13524562 |
NCBI chr 7:3,472,017...3,484,183
Ensembl chr 7:3,472,711...3,484,183
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|
G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20485159 PMID:20022477 |
RGD:4145619 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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|
G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 PMID:17641958 PMID:20485159 |
|
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
|
|
G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:15970796 |
RGD:5144000 |
NCBI chr14:73,263,515...73,286,554
Ensembl chr14:73,263,043...73,286,554
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|
G |
Fancc |
Fanconi anemia, complementation group C |
|
ISO |
DNA:haplotype::rs4647416(human) |
RGD |
PMID:21670957 |
RGD:11045795 |
NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092
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|
G |
H2-Aa |
histocompatibility 2, class II antigen A, alpha |
susceptibility |
ISO |
|
RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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|
G |
H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
susceptibility |
ISO |
|
RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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|
G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility |
ISO |
|
RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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|
G |
Il4 |
interleukin 4 |
susceptibility |
ISO |
DNA:SNPs:promoter,5'UTR,intron:multiple |
RGD |
PMID:20921925 |
RGD:11528633 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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|
G |
Ltc4s |
leukotriene C4 synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159 |
|
NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443
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|
G |
Ms4a2 |
membrane-spanning 4-domains, subfamily A, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
|
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
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G |
Postn |
periostin, osteoblast specific factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
|
NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458
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|
G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
|
NCBI chr19:10,901,883...10,919,875
Ensembl chr19:10,914,524...10,919,875
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|
G |
Ptger2 |
prostaglandin E receptor 2 (subtype EP2) |
|
ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15496426 PMID:16502481 |
|
NCBI chr14:45,225,568...45,241,277
Ensembl chr14:45,225,652...45,241,277
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|
G |
Ptgir |
prostaglandin I receptor (IP) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
|
NCBI chr 7:16,640,415...16,644,830
Ensembl chr 7:16,640,415...16,644,830
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:9487340 |
RGD:5143936 |
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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|
G |
Tap2 |
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) |
|
ISO |
|
RGD |
PMID:21796142 |
RGD:5147839 |
NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
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|
G |
Tbx21 |
T-box 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15806396 PMID:16502481 |
|
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
|
|
G |
Tbxa2r |
thromboxane A2 receptor |
susceptibility |
ISO |
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:15898979 |
RGD:11059537 |
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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|
|
G |
Abcb1a |
ATP-binding cassette, sub-family B (MDR/TAP), member 1A |
|
ISO |
protein:increased expression:blood, lymphocyte |
RGD |
PMID:19484671 |
RGD:4890020 |
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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|
G |
Abcc1 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
|
IMP |
|
RGD |
PMID:18931056 |
RGD:5128825 |
NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601
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|
G |
Abo |
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase) |
no_association |
ISO |
|
RGD |
PMID:16008680 PMID:19771478 |
RGD:5128831, RGD:5128835 |
NCBI chr 2:26,732,508...26,755,007
Ensembl chr 2:26,732,515...26,754,991
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|
G |
Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:19383228 PMID:19484664 |
RGD:4140919, RGD:4140913 |
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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|
G |
Acsl3 |
acyl-CoA synthetase long-chain family member 3 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:19221603 |
RGD:13831295 |
NCBI chr 1:78,635,542...78,685,460
Ensembl chr 1:78,635,542...78,685,460
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|
G |
Ada |
adenosine deaminase |
susceptibility |
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:16754522 |
RGD:5128848 |
NCBI chr 2:163,568,491...163,592,161
Ensembl chr 2:163,568,504...163,592,159
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|
G |
Adam33 |
a disintegrin and metallopeptidase domain 33 |
susceptibility no_association disease_progression |
ISO IEP |
DNA:SNPs: :multiple (human) DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) mRNA:increased expression:bronchus DNA:polymorphism: :p.M764T (human) mRNA:increased expression:lung DNA:SNPs (human) |
RGD GAD |
PMID:18778489 PMID:15118671 PMID:16893396 PMID:17339047 PMID:17961406 PMID:19635592 PMID:19940503 More...
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RGD:4145378, RGD:1331525, RGD:4145382, RGD:4145380, RGD:4145379, RGD:4145360, RGD:4145359 |
NCBI chr 2:130,892,739...130,905,734
Ensembl chr 2:130,892,511...130,905,734
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|
G |
Adam8 |
a disintegrin and metallopeptidase domain 8 |
severity |
ISO IEP IMP |
mRNA:increased expression:bronchus mRNA:increased expression:respiratory tract |
RGD |
PMID:17339047 PMID:19373511 PMID:20194813 |
RGD:4145380, RGD:5128878, RGD:5128872 |
NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475
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|
G |
Adcy2 |
adenylate cyclase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr13:68,768,162...69,147,719
Ensembl chr13:68,768,162...69,147,660
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|
G |
Adcyap1r1 |
adenylate cyclase activating polypeptide 1 receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21059121 |
|
NCBI chr 6:55,428,486...55,478,440
Ensembl chr 6:55,428,963...55,478,436
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|
G |
Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
susceptibility |
ISO IMP |
protein:increased expression:respiratory system fluid/secretion DNA:SNPs: :rs1154404, rs28730619 (human) |
RGD |
PMID:19514054 PMID:19395503 PMID:17543375 PMID:15919956 |
RGD:5128890, RGD:5128891, RGD:5128882, RGD:5128892 |
NCBI chr 3:138,142,961...138,161,260
Ensembl chr 3:138,148,854...138,161,260
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|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
IMP |
|
RGD |
PMID:19168697 |
RGD:5686821 |
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
|
|
G |
Adora1 |
adenosine A1 receptor |
|
ISO IMP |
DNA:SNPs: :1405C>T (human) protein:increased expression:bronchus |
RGD |
PMID:19019667 PMID:20400685 PMID:17959644 |
RGD:4890386, RGD:4145444, RGD:5129097 |
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,961...134,163,169
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|
G |
Adora2a |
adenosine A2a receptor |
|
ISO IMP IDA IEP |
DNA:SNP (human) mRNA:decreased expression:aorta |
RGD |
PMID:19019667 PMID:17293374 PMID:16339780 PMID:18310516 |
RGD:4890386, RGD:4890380, RGD:4890385, RGD:4890366 |
NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
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|
G |
Adrb2 |
adrenergic receptor, beta 2 |
susceptibility |
ISO IMP |
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to CTD Direct Evidence: marker/mechanism DNA:SNP: :-1023A>G (human) DNA:SNPs: :p.R16G, p.Q27E (human) DNA:polymorphism: :p.R16G (human) DNA:SNPs:promoter:multiple (human) DNA:SNP: :p.Q27E (human) |
ClinVar CTD OMIM RGD |
PMID:8383511 PMID:15284533 PMID:16596417 PMID:1655856 PMID:15118671 PMID:19638684 PMID:18785519 PMID:19029431 PMID:20443840 PMID:20004781 PMID:19800676 PMID:18569231 PMID:19423772 More...
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RGD:5129113, RGD:1331525, RGD:4145081, RGD:4145094, RGD:4145092, RGD:4145108, RGD:4145105, RGD:4145061, RGD:4145096, RGD:4145107 |
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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|
G |
Ager |
advanced glycosylation end product-specific receptor |
treatment onset |
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung (rat) |
CTD RGD |
PMID:23304218 PMID:33075463 PMID:21920897 PMID:23304218 |
RGD:7244279, RGD:6767554, RGD:7244279 |
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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|
G |
Agtr1a |
angiotensin II receptor, type 1a |
|
IMP ISO |
|
RGD |
PMID:17877756 PMID:19080339 |
RGD:5147452, RGD:5147457 |
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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|
G |
Agtr2 |
angiotensin II receptor, type 2 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:19080339 |
RGD:5147457 |
NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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|
G |
Aldh2 |
aldehyde dehydrogenase 2, mitochondrial |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9600491 PMID:11506308 PMID:15118671 |
RGD:1331525 |
NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887
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|
G |
Alox15 |
arachidonate 15-lipoxygenase |
|
IEP IMP |
protein:increased expression:lung |
RGD |
PMID:19628725 PMID:18692885 |
RGD:5509605, RGD:5509784 |
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
|
|
G |
Alox5 |
arachidonate 5-lipoxygenase |
no_association susceptibility treatment severity |
ISO IMP IEP IDA |
DNA:polymorphism:promoter (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood, leukocyte protein:increased expression:lung DNA:repeat:promoter (human) DNA:polymorphism:cds:p.E254K (human) |
CTD OMIM RGD |
PMID:20128419 PMID:10369259 PMID:9642160 PMID:12911785 PMID:8879219 PMID:11035107 PMID:19033731 PMID:16364163 PMID:18204779 PMID:17394438 More...
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RGD:4890407, RGD:734557, RGD:5147467, RGD:5147465, RGD:5147462, RGD:4890422, RGD:4890408, RGD:4890415, RGD:4890410, RGD:4890413 |
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
|
|
G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
susceptibility no_association |
ISO IMP IEP |
DNA:SNP: :rs10507391 (human) mRNA:increased expression:blood, leukocyte DNA:repeat:promoter:-169(A)21 (human) DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) protein:increased expression:lung DNA:polymorphism:promoter (human) DNA:SNPs (human) |
RGD |
PMID:20067482 PMID:9642160 PMID:10527888 PMID:12911785 PMID:15784112 PMID:8879219 PMID:11035107 PMID:20128419 PMID:18547289 More...
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RGD:4890405, RGD:5147467, RGD:5147466, RGD:5147465, RGD:5147464, RGD:5147462, RGD:4890422, RGD:4890407, RGD:4890409 |
NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
|
|
G |
Ambp |
alpha 1 microglobulin/bikunin precursor |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:14621078 |
RGD:6904149 |
NCBI chr 4:63,061,512...63,072,409
Ensembl chr 4:63,061,512...63,073,036
|
|
G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
severity |
ISO |
protein:increased expression:sputum |
RGD |
PMID:16478840 |
RGD:6892719 |
NCBI chr14:51,328,534...51,339,466
Ensembl chr14:51,328,607...51,339,466
|
|
G |
Anxa1 |
annexin A1 |
|
IMP |
|
RGD |
PMID:22092555 |
RGD:7421657 |
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
|
|
G |
Areg |
amphiregulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15696081 |
|
NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
|
|
G |
Arg1 |
arginase, liver |
|
ISO IEP |
DNA:SNP: :rs2781667 (human) CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:lung, mononuclear cell (human) mRNA:increased expression:lung (mouse) |
CTD RGD |
PMID:19281908 PMID:19800904 PMID:20124949 PMID:12813022 PMID:12813022 |
RGD:5129205, RGD:4143187, RGD:4143187 |
NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382
|
|
G |
Arg2 |
arginase type II |
severity susceptibility |
ISO IEP |
DNA:SNP: :rs3742879, rs17249437 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:SNPs (human) |
CTD RGD |
PMID:19281908 PMID:20124949 PMID:12813022 PMID:16387594 |
RGD:5129205, RGD:4143187, RGD:5129207 |
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
|
|
G |
Bcl2 |
B cell leukemia/lymphoma 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18357729 |
|
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
|
|
G |
Bdkrb2 |
bradykinin receptor, beta 2 |
onset |
ISO |
DNA:polymorphism:exon (human) protein:increased expression:blood, eosinophil |
RGD |
PMID:11517947 PMID:8856156 PMID:14727005 PMID:19038786 |
RGD:4890456, RGD:4891042, RGD:4890454, RGD:4891028 |
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
|
|
G |
Bdnf |
brain derived neurotrophic factor |
susceptibility severity |
ISO |
protein:decreased expression:blood, eosinophil DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) DNA:polymorphisms: :p.V66M, -270C>T (human) protein:increased expression:plasma DNA:polymorphisms: :p.V66M (rs6265) (human) |
RGD |
PMID:12752594 PMID:21723144 PMID:17584309 PMID:20874832 PMID:19895626 PMID:11737043 More...
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RGD:4891122, RGD:8655967, RGD:4891067, RGD:4891063, RGD:4891117, RGD:4891123 |
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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G |
Bglap |
bone gamma carboxyglutamate protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8429434 |
|
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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|
G |
Bmpr1b |
bone morphogenetic protein receptor, type 1B |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186
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|
G |
Bmpr2 |
bone morphogenetic protein receptor, type II (serine/threonine kinase) |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173
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|
G |
C3 |
complement component 3 |
severity |
IMP ISO IEP |
protein:increased expression:serum DNA:SNP:intron:rs11569562 (human) DNA:SNP: :4896C>T (human) protein:increased expression:respiratory system fluid/secretion Interaction with IL4RA DNA:SNPs: :multiple (human) |
RGD |
PMID:11591733 PMID:20589464 PMID:18566738 PMID:15278436 PMID:20802484 PMID:20402389 PMID:20395963 PMID:16355111 More...
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RGD:5129517, RGD:5129519, RGD:5129501, RGD:5129512, RGD:5129681, RGD:5129537, RGD:5129538, RGD:5129505 |
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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|
G |
C3ar1 |
complement component 3a receptor 1 |
severity |
ISO IMP IEP |
mRNA:increased expression:lung protein:increased expression:lung, leukocyte |
RGD |
PMID:15278436 PMID:20802484 PMID:20045013 PMID:17544263 PMID:15940127 PMID:17544263 More...
|
RGD:5129512, RGD:5129681, RGD:5129686, RGD:5129560, RGD:5129561, RGD:5129560 |
NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120
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|
G |
C5ar1 |
complement component 5a receptor 1 |
severity |
IMP IEP ISO |
protein:increased expression:lung, leukocyte protein:increased expression:respiratory tract |
RGD |
PMID:16511606 PMID:20802484 PMID:17544263 PMID:15940127 |
RGD:5130166, RGD:5129681, RGD:5129560, RGD:5129561 |
NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465
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G |
Card11 |
caspase recruitment domain family, member 11 |
susceptibility |
IMP |
|
RGD |
PMID:16751370 |
RGD:11100037 |
NCBI chr 5:140,858,754...140,986,351
Ensembl chr 5:140,858,745...140,986,337
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|
G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 9:21,458,168...21,500,763
Ensembl chr 9:21,458,190...21,503,919
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G |
Casp1 |
caspase 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12396474 |
RGD:5130192 |
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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G |
Cat |
catalase |
severity |
ISO IDA |
DNA:polymorphism:promoter:-21A>T (human) CTD Direct Evidence: marker/mechanism protein:decreased activity DNA:polymorphism:promoter:-262C>T (human) protein:increased expression:erythrocyte |
CTD RGD |
PMID:18048809 PMID:19373626 PMID:16622028 PMID:18048809 PMID:19475625 |
RGD:5130753, RGD:5130867, RGD:5130856, RGD:5130751 |
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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G |
Ccl1 |
chemokine (C-C motif) ligand 1 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20455898 |
RGD:4891420 |
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
susceptibility treatment severity |
ISO IEP IMP |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.A23T (human) mRNA:increased expression:lung |
CTD OMIM RGD |
PMID:16304252 PMID:22932891 PMID:17074272 PMID:17845580 PMID:20704746 PMID:18250471 PMID:9034156 PMID:17060636 More...
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RGD:5130930, RGD:7248416, RGD:4145461, RGD:4145457, RGD:4145387, RGD:4145392, RGD:4145451, RGD:4891485 |
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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G |
Ccl17 |
chemokine (C-C motif) ligand 17 |
|
ISO IMP IEP IDA |
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15993846 PMID:11160256 PMID:20074456 PMID:15947487 PMID:20237293 |
RGD:2306304, RGD:4145603, RGD:4145487, RGD:4145513, RGD:4145486 |
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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G |
Ccl19 |
chemokine (C-C motif) ligand 19 |
|
ISO |
protein:increased expression:bronchus submucosa, mast cell |
RGD |
PMID:16959919 |
RGD:5130911 |
NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577
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G |
Ccl2 |
chemokine (C-C motif) ligand 2 |
severity treatment |
ISO IEP IDA |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:haplotype::-2518A>G (human) protein:increased expression:lung |
CTD RGD |
PMID:19373627 PMID:19373627 PMID:12055264 PMID:25441643 PMID:23454776 PMID:17964702 PMID:20205697 More...
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RGD:4891466, RGD:11528570, RGD:11528569, RGD:8551842, RGD:2307055, RGD:4145509 |
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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G |
Ccl20 |
chemokine (C-C motif) ligand 20 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion associated with Allergic Rhinitis;protein:increased expression:serum |
RGD |
PMID:18422729 PMID:22469443 |
RGD:7483597, RGD:7483618 |
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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G |
Ccl22 |
chemokine (C-C motif) ligand 22 |
|
IMP ISO IEP |
mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:10384142 PMID:18684970 PMID:15993846 PMID:18316417 |
RGD:4891475, RGD:4145489, RGD:2306304, RGD:4891474 |
NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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G |
Ccl24 |
chemokine (C-C motif) ligand 24 |
susceptibility |
ISO IMP |
DNA:SNPs: :179T>C, 275C>T (human) DNA:SNPs: :304C>A, 1272A>G (human) protein:increased expression:respiratory system fluid/secretion DNA:SNP: :1265A>G (human) protein:increased expression:plasma |
RGD |
PMID:15207712 PMID:17548626 PMID:18712274 PMID:12952266 PMID:12761043 PMID:17060636 PMID:16304252 More...
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RGD:4891495, RGD:4891484, RGD:4891483, RGD:4891496, RGD:5130932, RGD:4891485, RGD:5130930 |
NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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G |
Ccl26 |
chemokine (C-C motif) ligand 26 |
treatment |
ISO IDA |
protein:increased expression:plasma DNA:SNPs: :77C>T, 2497T>G (human) DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) |
RGD |
PMID:16304252 PMID:25399816 PMID:25530546 PMID:15207712 PMID:18712274 |
RGD:5130930, RGD:11087575, RGD:11081163, RGD:4891495, RGD:4891483 |
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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G |
Ccl27a |
chemokine (C-C motif) ligand 27A |
|
ISO |
|
RGD |
PMID:19541356 |
RGD:5130899 |
NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247
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G |
Ccl28 |
chemokine (C-C motif) ligand 28 |
|
IEP |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:16290206 |
RGD:4892195 |
NCBI chr13:120,085,355...120,115,895
Ensembl chr13:120,085,355...120,115,895
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G |
Ccl4 |
chemokine (C-C motif) ligand 4 |
|
ISO |
|
RGD |
PMID:18774390 |
RGD:5130915 |
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
susceptibility |
IEP ISO |
protein:increased expression:lung, secretion (mouse) CTD Direct Evidence: marker/mechanism protein:increased expression:smooth muscle cell DNA:transition:5' utr:-403G>A (human) |
CTD RGD |
PMID:8534483 PMID:20092989 PMID:18208670 PMID:20430255 |
RGD:4891430, RGD:2307112, RGD:4891381 |
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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G |
Ccl7 |
chemokine (C-C motif) ligand 7 |
|
ISO IEP |
|
RGD |
PMID:21388664 PMID:19965981 |
RGD:5130983, RGD:5130979 |
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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G |
Ccr1 |
chemokine (C-C motif) receptor 1 |
severity |
IEP IMP |
mRNA:increased expression:lung associated with Respiratory Syncytial Virus Infections |
RGD |
PMID:15654816 PMID:15593301 |
RGD:5688158, RGD:5688159 |
NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
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G |
Ccr2 |
chemokine (C-C motif) receptor 2 |
susceptibility |
ISO IEP |
DNA:SNP:cds:p.V64I (human) DNA:haplotype:cds:p.V64I(human) protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:17298432 PMID:23454776 PMID:19917684 |
RGD:4145110, RGD:8551842, RGD:8549811 |
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
IMP ISO IDA |
protein:increased expression:respiratory system fluid/secretion, neutrophil DNA:SNP:exon:51T>C (human) |
RGD |
PMID:18699933 PMID:19017998 PMID:17145927 PMID:16978084 PMID:20220260 PMID:19657453 PMID:20134116 More...
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RGD:4145633, RGD:4145632, RGD:1601020, RGD:4145646, RGD:4145638, RGD:4145623, RGD:4145618 |
NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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G |
Ccr4 |
chemokine (C-C motif) receptor 4 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984
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G |
Ccr5 |
chemokine (C-C motif) receptor 5 |
no_association |
IMP ISO IEP |
DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) mRNA:increased expression:lung (mouse) protein:decreased expression:blood, lymphocyte (human) DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) |
RGD |
PMID:16474097 PMID:23454776 PMID:18094012 PMID:15256090 PMID:20220260 |
RGD:4892093, RGD:8551842, RGD:4892088, RGD:4892108, RGD:4145638 |
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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G |
Ccr6 |
chemokine (C-C motif) receptor 6 |
|
IEP |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:19917684 |
RGD:8549811 |
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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G |
Ccr7 |
chemokine (C-C motif) receptor 7 |
|
IEP |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:19917684 |
RGD:8549811 |
NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903
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G |
Ccr8 |
chemokine (C-C motif) receptor 8 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 9:119,921,199...119,923,972
Ensembl chr 9:119,921,180...119,923,972
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G |
Ccr9 |
chemokine (C-C motif) receptor 9 |
|
ISO |
mRNA, protein:increased expression:blood, mature NK T cell |
RGD |
PMID:16210593 |
RGD:5130925 |
NCBI chr 9:123,596,276...123,612,522
Ensembl chr 9:123,507,504...123,613,395
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G |
Cd14 |
CD14 antigen |
severity no_association susceptibility |
ISO |
DNA:polymorphism:promoter:c. -260C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:c. -159C>T (human) DNA:SNPs: : protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) |
CTD RGD |
PMID:17607003 PMID:15940135 PMID:15741437 PMID:19096003 PMID:18312481 PMID:16387800 More...
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RGD:4144814, RGD:4144815, RGD:4144228, RGD:4144208, RGD:4144813 |
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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G |
Cd1d1 |
CD1d1 antigen |
susceptibility |
IMP |
associated with fasciolopsiasis |
RGD |
PMID:20304473 |
RGD:4140417 |
NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748
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G |
Cd209a |
CD209a antigen |
|
ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr 8:3,793,395...3,798,984
Ensembl chr 8:3,793,397...3,798,984
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G |
Cd274 |
CD274 antigen |
treatment |
IMP |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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G |
Cd28 |
CD28 antigen |
|
ISO |
|
RGD |
PMID:21356099 |
RGD:5131612 |
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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G |
Cd40 |
CD40 antigen |
treatment |
ISO IEP |
|
RGD |
PMID:19220210 PMID:20205594 PMID:19159017 PMID:20941750 |
RGD:5132272, RGD:8547792, RGD:4144188, RGD:4892277 |
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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G |
Cd40lg |
CD40 ligand |
severity |
IMP |
|
RGD |
PMID:9502776 |
RGD:11352238 |
NCBI chr X:56,257,503...56,269,402
Ensembl chr X:56,257,503...56,269,402
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G |
Cd80 |
CD80 antigen |
|
IEP |
|
RGD |
PMID:21051864 PMID:21440530 PMID:21352203 |
RGD:5132621, RGD:5132619, RGD:5132620 |
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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G |
Cd86 |
CD86 antigen |
treatment |
IEP IMP ISO |
protein:increased expression:lung, alveolar macrophage (mouse) protein:increased expression:blood, B cell (human) protein:increased expression:lung, dendritic cell (rat) DNA:snp:exon:p.I179V rs2681417 (human) |
RGD |
PMID:20941750 PMID:25344652 PMID:9449507 PMID:20668438 PMID:9551945 PMID:17513529 More...
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RGD:4892277, RGD:11354965, RGD:4892555, RGD:4892199, RGD:4892202, RGD:4892280 |
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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G |
Cdh1 |
cadherin 1 |
|
ISO |
|
RGD |
PMID:21540309 |
RGD:5132878 |
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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|
G |
Cdhr3 |
cadherin-related family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
|
NCBI chr12:33,083,781...33,142,900
Ensembl chr12:33,083,795...33,142,874
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|
G |
Cftr |
cystic fibrosis transmembrane conductance regulator |
susceptibility |
ISO |
DNA:deletion: :p.F508del(human) |
RGD |
PMID:20298391 |
RGD:4140387 |
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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|
G |
Chat |
choline acetyltransferase |
|
ISO |
Protein:decreased expression:lung epithelium |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr14:32,130,160...32,187,866
Ensembl chr14:32,130,160...32,187,946
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G |
Chia1 |
chitinase, acidic 1 |
no_association |
ISO IMP IEP |
DNA:snps:5' utr, cds:multiple (human) DNA:snps:multiple (human) mRNA:increased expression:lung, epithelial cell (human) mRNA:increased expression:lung (mouse) |
RGD |
PMID:16179638 PMID:20226308 PMID:19548841 PMID:15192232 PMID:14734765 |
RGD:4996473, RGD:5024922, RGD:5024921, RGD:4985150, RGD:4990463 |
NCBI chr 3:106,020,698...106,039,434
Ensembl chr 3:106,020,545...106,039,436
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G |
Chil1 |
chitinase-like 1 |
susceptibility |
ISO |
human gene in mouse model CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 DNA:snp:5' utr:g.-131C>G rs4950928 (human) protein:increased secretion:serum (human) |
CTD OMIM ClinVar RGD |
PMID:18403759 PMID:19414556 PMID:19568425 PMID:18003958 |
RGD:4892663, RGD:4892630, RGD:4892632 |
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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G |
Chml |
choroideremia-like |
|
ISO |
|
RGD |
PMID:18343558 |
RGD:5133238 |
NCBI chr 1:175,509,803...175,515,919
Ensembl chr 1:175,509,803...175,520,467
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G |
Chrm1 |
cholinergic receptor, muscarinic 1, CNS |
|
ISO |
|
RGD |
PMID:16931638 |
RGD:5133416 |
NCBI chr19:8,641,369...8,660,970
Ensembl chr19:8,641,153...8,660,951
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G |
Chrm2 |
cholinergic receptor, muscarinic 2, cardiac |
|
ISO |
DNA:SNP: :rs6962027 (human) |
RGD |
PMID:19308904 |
RGD:5509586 |
NCBI chr 6:36,364,928...36,505,573
Ensembl chr 6:36,365,019...36,505,349
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|
G |
Chrm3 |
cholinergic receptor, muscarinic 3, cardiac |
severity |
ISO IMP |
|
RGD |
PMID:20394512 PMID:18348887 |
RGD:5133437, RGD:5133438 |
NCBI chr13:9,925,522...10,411,131
Ensembl chr13:9,925,522...10,410,883
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|
G |
Chuk |
conserved helix-loop-helix ubiquitous kinase |
|
IMP |
|
RGD |
PMID:21496385 |
RGD:5133703 |
NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919
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G |
Clca1 |
chloride channel accessory 1 |
susceptibility |
IMP ISO |
DNA:SNPs (human) |
RGD |
PMID:11296262 PMID:17898169 PMID:15318163 |
RGD:4145661, RGD:4145653, RGD:4145656 |
NCBI chr 3:144,710,298...144,738,537
Ensembl chr 3:144,709,578...144,738,537
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|
G |
Cldn18 |
claudin 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27215490 |
|
NCBI chr 9:99,572,849...99,599,320
Ensembl chr 9:99,571,514...99,599,320
|
|
G |
Cma1 |
chymase 1, mast cell |
severity susceptibility no_association |
ISO |
protein:increased expression:lung epithelium, mast cell (human) DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) |
RGD |
PMID:20813890 PMID:15924217 PMID:15248847 |
RGD:5128804, RGD:1625396, RGD:1625397 |
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
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|
G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
ISO |
DNA:SNP: :RS242941 (human) DNA:SNPs: :rs1876828, rs242939, rs242941 (human) |
RGD |
PMID:19663668 PMID:16113459 |
RGD:5147485, RGD:5147488 |
NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
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|
G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18408560 |
RGD:5130938 |
NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001
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|
G |
Crp |
C-reactive protein, pentraxin-related |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21140796 |
RGD:5131288 |
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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|
G |
Csf2 |
colony stimulating factor 2 (granulocyte-macrophage) |
severity |
IEP IMP ISO |
protein:increased expression:lung protein:increased expression:sputum |
RGD |
PMID:20405019 PMID:9717963 PMID:19213775 |
RGD:5131473, RGD:10449521, RGD:5131476 |
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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|
G |
Csf2rb |
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) |
|
ISO |
|
RGD |
PMID:17145927 |
RGD:1601020 |
NCBI chr15:78,210,000...78,235,201
Ensembl chr15:78,209,952...78,238,047
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|
G |
Csf2rb2 |
colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage) |
|
ISO |
|
RGD |
PMID:17145927 |
RGD:1601020 |
NCBI chr15:78,166,707...78,189,921
Ensembl chr15:78,166,707...78,189,921
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|
G |
Csf3 |
colony stimulating factor 3 (granulocyte) |
|
IEP ISO |
protein:increased expression:lung |
RGD |
PMID:20405019 PMID:21396376 |
RGD:5131473, RGD:5133731 |
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
severity treatment no_association |
ISO IDA IMP IEP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNP: :rs3087243 (human) DNA:polymorphism:promoter:-318C>T (human) DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) |
CTD RGD |
PMID:28807506 PMID:15871446 PMID:11726402 PMID:15316504 PMID:19895365 PMID:18699801 PMID:12956753 PMID:12114354 PMID:17237396 PMID:16926542 PMID:16677453 PMID:16708626 PMID:17469155 More...
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RGD:4891529, RGD:11344922, RGD:4891519, RGD:4891526, RGD:4891510, RGD:4891521, RGD:4891522, RGD:4891514, RGD:4891528, RGD:4891517, RGD:4891516, RGD:4891527 |
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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G |
Ctnna3 |
catenin (cadherin associated protein), alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19187332 |
|
NCBI chr10:63,265,877...64,841,174
Ensembl chr10:63,265,877...64,839,446
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|
G |
Cx3cl1 |
chemokine (C-X3-C motif) ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:14657873 |
RGD:4891906 |
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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|
G |
Cx3cr1 |
chemokine (C-X3-C motif) receptor 1 |
no_association |
IMP ISO |
DNA:SNPs: :p.V249I, rs2669849 (human) DNA:polymorphisms: :p.V249I, p.T280M (human) |
RGD |
PMID:21037587 PMID:17082760 PMID:17505143 |
RGD:4891882, RGD:4891895, RGD:4891904 |
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,730,682...119,898,945
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G |
Cxcl1 |
chemokine (C-X-C motif) ligand 1 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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|
G |
Cxcl10 |
chemokine (C-X-C motif) ligand 10 |
|
ISO IMP |
protein:decreased expression:plasma |
RGD |
PMID:17302903 PMID:16602032 PMID:11994485 |
RGD:5135439, RGD:5135457, RGD:5135452 |
NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
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G |
Cxcl14 |
chemokine (C-X-C motif) ligand 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 |
|
NCBI chr13:56,436,456...56,444,624
Ensembl chr13:56,436,456...56,444,364
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|
G |
Cxcl2 |
chemokine (C-X-C motif) ligand 2 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:20045013 |
RGD:5129686 |
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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|
G |
Cxcl3 |
chemokine (C-X-C motif) ligand 3 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
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|
G |
Cxcl5 |
chemokine (C-X-C motif) ligand 5 |
|
ISO IEP |
mRNA:increased expression:bronchus epithelium |
RGD |
PMID:17234659 PMID:9620668 |
RGD:5135243, RGD:5135265 |
NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
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|
G |
Cxcl9 |
chemokine (C-X-C motif) ligand 9 |
|
IMP |
|
RGD |
PMID:15210824 |
RGD:5135447 |
NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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|
G |
Cxcr3 |
chemokine (C-X-C motif) receptor 3 |
susceptibility severity |
IEP ISO |
DNA:SNP:intron:IVS1+234G>A (human) protein:decreased expression:respiratory system fluid/secretion, T cell |
RGD |
PMID:18094012 PMID:16043121 PMID:16548899 PMID:17641057 |
RGD:4892088, RGD:5143934, RGD:5143932, RGD:5135484 |
NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875
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G |
Cyba |
cytochrome b-245, alpha polypeptide |
susceptibility |
ISO |
DNA:polymorphism: :-930A>G (human) DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) |
RGD |
PMID:19459419 PMID:18716406 |
RGD:4311041, RGD:4772770 |
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
IEP |
mRNA, protein:increased expression, decreased activity:lung |
RGD |
PMID:12415424 |
RGD:4892074 |
NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
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|
G |
Cyp2d22 |
cytochrome P450, family 2, subfamily d, polypeptide 22 |
|
ISO |
DNA:polymorphism: :1934G>A (human) |
RGD |
PMID:19575027 |
RGD:5143944 |
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO IEP |
mRNA:decreased expression:leukocyte CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28807506 PMID:20514434 PMID:17081494 |
RGD:4892076, RGD:4892220 |
NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
no_association severity |
ISO IMP |
DNA:SNPs:promoter, exon:multiple (human) DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) DNA:SNP: :927T>C (human) mRNA, protein:increased expression:respiratory system mucosa |
RGD |
PMID:16771777 PMID:16630147 PMID:16776674 PMID:8087328 PMID:11591188 PMID:17153879 PMID:17689528 PMID:16387808 PMID:16123393 More...
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RGD:4889116, RGD:4784257, RGD:4782072, RGD:4888514, RGD:4848936, RGD:4781742, RGD:4781449, RGD:4843543, RGD:4847129 |
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
DNA:polymorphism: :601A>G (human) DNA:polymorphism: :-1220A>C (human) |
RGD |
PMID:15475736 PMID:15454733 |
RGD:5144002, RGD:5144003 |
NCBI chr14:73,263,515...73,286,554
Ensembl chr14:73,263,043...73,286,554
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G |
Dcn |
decorin |
|
ISO |
|
RGD |
PMID:16387756 |
RGD:2311423 |
NCBI chr10:97,315,362...97,354,025
Ensembl chr10:97,315,471...97,354,005
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|
G |
Defb1 |
defensin beta 1 |
susceptibility |
ISO |
DNA:SNP: :-1816 T>C (human) DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) |
RGD |
PMID:15696078 PMID:16435024 |
RGD:4892263, RGD:4892254 |
NCBI chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198
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G |
Dnmt1 |
DNA methyltransferase (cytosine-5) 1 |
|
IEP ISO |
DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23423710 PMID:23196709 |
RGD:9588646 |
NCBI chr 9:20,818,501...20,871,184
Ensembl chr 9:20,818,505...20,871,184
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G |
Dpp10 |
dipeptidylpeptidase 10 |
|
ISO |
DNA:SNPs (human) DNA:SNP:exon (human) protein:increased expression:bronchus DNA:SNP: :rs10208402 (human) |
RGD GAD |
PMID:21103062 PMID:15118671 PMID:14566338 PMID:17967935 PMID:19672052 |
RGD:4889866, RGD:1331525, RGD:4892276, RGD:4892278, RGD:4892275 |
NCBI chr 1:123,259,867...124,773,809
Ensembl chr 1:123,249,200...124,773,776
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G |
Ear1 |
eosinophil-associated, ribonuclease A family, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8874658 PMID:12153692 PMID:12587966 |
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NCBI chr14:44,056,222...44,057,096
Ensembl chr14:44,056,222...44,112,974
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G |
Ebi3 |
Epstein-Barr virus induced gene 3 |
|
IMP |
|
RGD |
PMID:21255010 |
RGD:5128488 |
NCBI chr17:56,259,623...56,264,022
Ensembl chr17:56,259,640...56,264,022
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G |
Edn1 |
endothelin 1 |
|
ISO |
DNA:transition:intron:g.4124T>C (human) CTD Direct Evidence: marker/mechanism Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) |
CTD RGD |
PMID:16981460 PMID:11668616 PMID:20588001 |
RGD:4144869, RGD:4144895 |
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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G |
Ednra |
endothelin receptor type A |
|
IMP |
|
RGD |
PMID:18632188 PMID:17448648 |
RGD:4892288, RGD:4892322 |
NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093
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G |
Ednrb |
endothelin receptor type B |
|
IMP ISO |
DNA:polymorphism (human) mRNA:increased expression:bronchus, smooth muscle cell |
RGD |
PMID:18632188 PMID:17470272 PMID:15245576 |
RGD:4892288, RGD:4892321, RGD:4892324 |
NCBI chr14:104,052,051...104,083,248
Ensembl chr14:104,052,061...104,081,838
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G |
Egfr |
epidermal growth factor receptor |
severity |
IMP ISO IEP |
protein:increased expression:bronchial epithelium (human) protein:increased expression:lung epithelium (mouse) protein:increased expression:lung epithelium (rat) |
RGD |
PMID:21224214 PMID:12580917 PMID:21072743 PMID:19954006 |
RGD:5131633, RGD:5131468, RGD:5131642, RGD:5131870 |
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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G |
Egr1 |
early growth response 1 |
|
IMP ISO |
mRNA:increased expression:bronchoalveolar lavage cell (human) DNA:snp:5' utr:g.-4071A>G rs7729723 (human) |
RGD |
PMID:11254538 PMID:18774390 PMID:18507785 |
RGD:5131985, RGD:5130915, RGD:5131993 |
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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G |
Elp1 |
elongator complex protein 1 |
no_association |
ISO |
|
RGD |
PMID:11281413 PMID:12774215 |
RGD:5129157, RGD:5129158 |
NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
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|
G |
Ephx1 |
epoxide hydrolase 1, microsomal |
susceptibility |
ISO |
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) |
RGD |
PMID:17711870 |
RGD:4889407 |
NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469
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G |
Epx |
eosinophil peroxidase |
severity disease_progression |
ISO |
protein:increased activity:sputum,nasal,pharyngeal mucosa |
RGD |
PMID:26645423 PMID:12199967 PMID:20813885 |
RGD:11574908, RGD:13506892, RGD:13506891 |
NCBI chr11:87,754,824...87,766,362
Ensembl chr11:87,754,826...87,766,362
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G |
Esr2 |
estrogen receptor 2 (beta) |
|
ISO |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:18375789 |
RGD:8694127 |
NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
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G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:plasma associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus |
RGD |
PMID:21658190 PMID:21711961 |
RGD:5147753, RGD:5147783 |
NCBI chr 2:91,442,742...91,466,802
Ensembl chr 2:91,455,665...91,466,759
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G |
F2rl1 |
coagulation factor II (thrombin) receptor-like 1 |
|
ISO |
|
RGD |
PMID:19864598 |
RGD:4892589 |
NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735
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G |
F7 |
coagulation factor VII |
treatment |
ISO |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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|
G |
Fas |
Fas (TNF receptor superfamily member 6) |
|
ISO |
mRNA:increased expression:eosinophil |
RGD |
PMID:16337971 |
RGD:1600350 |
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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|
G |
Fcer1a |
Fc receptor, IgE, high affinity I, alpha polypeptide |
severity |
ISO |
Asthma symptoms persistent despite steroids in humans Fatal asthma subjects |
RGD |
PMID:20937062 PMID:21388666 |
RGD:5128717, RGD:5128711 |
NCBI chr 1:173,048,836...173,054,799
Ensembl chr 1:173,048,851...173,054,781
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|
G |
Fcgr2b |
Fc receptor, IgG, low affinity IIb |
|
IMP |
|
RGD |
PMID:20179765 |
RGD:11344929 |
NCBI chr 1:170,788,127...170,803,691
Ensembl chr 1:170,786,186...170,804,116
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G |
Fcgr4 |
Fc receptor, IgG, low affinity IV |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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|
G |
Fga |
fibrinogen alpha chain |
treatment |
ISO |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
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|
G |
Fkbp5 |
FK506 binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar |
|
|
NCBI chr17:28,617,727...28,705,123
Ensembl chr17:28,618,068...28,736,501
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|
G |
Foxp3 |
forkhead box P3 |
treatment |
ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27965764 PMID:29317916 PMID:28944907 PMID:27633092 |
RGD:38549365, RGD:38548920 |
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
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|
G |
Gata3 |
GATA binding protein 3 |
|
ISO |
|
RGD |
PMID:9949310 PMID:18186587 |
RGD:5128802, RGD:5128803 |
NCBI chr 2:9,861,889...9,892,762
Ensembl chr 2:9,861,889...9,894,845
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|
G |
Gc |
vitamin D binding protein |
|
IMP ISO |
protein, mRNA:increased expression:bronchoalveolar lavage fluid: |
RGD |
PMID:21169467 PMID:21169467 |
RGD:5509920, RGD:5509920 |
NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
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|
G |
Gsta1 |
glutathione S-transferase, alpha 1 (Ya) |
susceptibility |
ISO |
DNA:polymorphism:promoter: -69C>T (human) |
RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr 9:78,137,951...78,149,965
Ensembl chr 9:78,137,938...78,149,966
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|
G |
Gstm1 |
glutathione S-transferase, mu 1 |
resistance susceptibility |
ISO |
DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16870661 PMID:18988661 PMID:17651144 PMID:21051083 PMID:11075422 |
RGD:4142509, RGD:5490962, RGD:4140921 |
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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|
G |
Gstm3 |
glutathione S-transferase, mu 3 |
|
ISO |
DNA:polymorphism |
RGD |
PMID:11470996 PMID:17550934 |
RGD:5135039, RGD:5135038 |
NCBI chr 3:107,871,012...107,876,490
Ensembl chr 3:107,871,012...107,876,599
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|
G |
Gstm5 |
glutathione S-transferase, mu 5 |
|
ISO |
DNA:polymorphism |
RGD |
PMID:11470996 PMID:17550934 |
RGD:5135038 RGD:5135039 |
NCBI chr 3:107,803,170...107,806,001
Ensembl chr 3:107,803,137...107,806,002
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|
G |
Gsto2 |
glutathione S-transferase omega 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p. N142D (human) |
RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr19:47,853,879...47,874,747
Ensembl chr19:47,853,973...47,874,763
|
|
G |
Gstp1 |
glutathione S-transferase, pi 1 |
severity susceptibility disease_progression no_association |
ISO IAGP |
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) DNA:SNPs: :p.I105V, p.A114V (human) DNA:polymorphism:exon:p.I105V (human) DNA:SNP: :p.A114V (human) |
CTD RGD |
PMID:11994713 PMID:16870661 PMID:18988661 PMID:24117884 PMID:29411558 PMID:10806136 PMID:15693909 PMID:20210814 PMID:20858151 PMID:18057098 PMID:16176403 PMID:18709160 PMID:18787219 More...
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RGD:4142526, RGD:5490999, RGD:5490991, RGD:5490985, RGD:4140951, RGD:4142519, RGD:4140947, RGD:4140946 |
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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G |
Gstt1 |
glutathione S-transferase, theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:15300848 PMID:21051083 PMID:11075422 |
RGD:4142539, RGD:5490962, RGD:4140921 |
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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G |
H2-Aa |
histocompatibility 2, class II antigen A, alpha |
|
ISO |
DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD RGD |
PMID:10792356 PMID:12890388 PMID:10051703 PMID:11802952 PMID:19052351 |
RGD:5147799, RGD:1331670, RGD:5147831, RGD:5147617 |
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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G |
H2-Ab1 |
histocompatibility 2, class II antigen A, beta 1 |
susceptibility disease_progression no_association |
ISO |
Alternaria sensitive asthma DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD RGD |
PMID:10792356 PMID:20298583 PMID:20159242 PMID:20214848 PMID:23331206 PMID:11802952 PMID:12890388 PMID:19052351 More...
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RGD:4144113, RGD:13506913, RGD:4144181, RGD:13506906, RGD:5147831, RGD:5147799, RGD:5147617 |
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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G |
H2-Ea |
histocompatibility 2, class II antigen E alpha |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:20159242 |
RGD:13506913 |
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,933...34,563,619
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G |
H2-Eb1 |
histocompatibility 2, class II antigen E beta |
susceptibility no_association severity |
ISO |
DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD RGD |
PMID:16792590 PMID:19528258 PMID:20159242 PMID:23331206 PMID:10051703 PMID:19439981 PMID:20486920 PMID:20214848 More...
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RGD:4144196, RGD:13506913, RGD:13506906, RGD:1331670, RGD:5147663, RGD:5147607, RGD:4144181 |
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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G |
H2-M2 |
histocompatibility 2, M region locus 2 |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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G |
H2-M3 |
histocompatibility 2, M region locus 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:15611928 |
RGD:5144118 |
NCBI chr17:37,581,094...37,585,376
Ensembl chr17:37,581,111...37,585,375
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G |
H2-Pa |
histocompatibility 2, P region alpha locus |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:21814517 |
RGD:13506911 |
NCBI chr17:34,303,587...34,304,826
Ensembl chr17:34,303,575...34,304,797
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
|
RGD |
PMID:20628202 |
RGD:5128851 |
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
|
IMP |
|
RGD |
PMID:17517968 |
RGD:5135525 |
NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
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G |
Hc |
hemolytic complement |
severity |
IEP ISO IAGP |
mRNA:decreased expression:lung |
RGD |
PMID:10973279 PMID:15278436 PMID:20143644 PMID:11591795 PMID:20802484 |
RGD:5130158, RGD:5129512, RGD:5129706, RGD:1600651, RGD:5129681 |
NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
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G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
mRNA:decreased expression:macrophage: |
RGD |
PMID:20538962 |
RGD:9590321 |
NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885
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G |
Hdc |
histidine decarboxylase |
|
ISO |
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) |
RGD |
PMID:20608921 |
RGD:5128884 |
NCBI chr 2:126,435,579...126,465,942
Ensembl chr 2:126,435,587...126,461,219
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G |
Hif1a |
hypoxia inducible factor 1, alpha subunit |
treatment |
IEP |
|
RGD |
PMID:18160846 |
RGD:10402541 |
NCBI chr12:73,948,098...73,994,328
Ensembl chr12:73,948,149...73,994,304
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-Coenzyme A reductase |
|
ISO |
|
RGD |
PMID:20084838 |
RGD:5508450 |
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
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G |
Hmox1 |
heme oxygenase 1 |
severity |
IDA ISO |
CTD Direct Evidence: marker/mechanism mRNA;protein:increased expression:Leukocytes, Mononuclear |
CTD RGD |
PMID:18048809 PMID:20596599 PMID:16196283 |
RGD:4145403, RGD:4145408 |
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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G |
Hnmt |
histamine N-methyltransferase |
no_association susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:10752634 PMID:10803682 PMID:16205835 PMID:17651147 PMID:15693910 PMID:21040557 PMID:17651147 PMID:10803682 PMID:16205835 More...
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RGD:5128888, RGD:5128883, RGD:5128885, RGD:5128881, RGD:5128887 |
NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
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G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:21471098 PMID:21169467 |
RGD:5144151, RGD:5509920 |
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932298 |
|
NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620
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G |
Htr2a |
5-hydroxytryptamine (serotonin) receptor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25322896 |
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NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO IEP |
protein:increased expression:lung, serum (rat) CTD Direct Evidence: marker/mechanism mRNA:increased expression:aorta (mouse) protein:increased secretion:lung (human) |
CTD RGD |
PMID:17014439 PMID:25003170 PMID:20953388 PMID:20400685 PMID:20205697 |
RGD:4145331, RGD:4145444, RGD:4145509 |
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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G |
Ifng |
interferon gamma |
treatment resistance |
IDA IMP ISO |
protein:increased expression:sputum |
RGD GAD |
PMID:19542437 PMID:12396623 PMID:15118671 PMID:20953328 PMID:20817868 |
RGD:5128479, RGD:10755706, RGD:1331525, RGD:4145525, RGD:4145651 |
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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G |
Ifngr1 |
interferon gamma receptor 1 |
|
IAGP ISO |
DNA: SNP: Leu467Pro |
RGD |
PMID:21737883 PMID:12851715 |
RGD:6480255, RGD:6480431 |
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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G |
Ifnl2 |
interferon lambda 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
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NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880
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G |
Ikzf3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25256354 |
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NCBI chr11:98,355,436...98,437,157
Ensembl chr11:98,355,728...98,436,857
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G |
Il10 |
interleukin 10 |
treatment susceptibility |
ISO IMP IEP |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-627C>A (human) protein:decreased expression:plasma |
CTD RGD |
PMID:29317916 PMID:20560982 PMID:21998459 PMID:20237464 PMID:20644177 PMID:12938145 PMID:20121766 PMID:20230687 More...
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RGD:5131623, RGD:11046261, RGD:4140471, RGD:4140459, RGD:4143221, RGD:4140451, RGD:4140421 |
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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G |
Il12a |
interleukin 12a |
|
IMP |
|
RGD |
PMID:17056578 PMID:17548618 |
RGD:4438438, RGD:4373570 |
NCBI chr 3:68,597,977...68,605,883
Ensembl chr 3:68,597,977...68,605,880
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G |
Il12b |
interleukin 12b |
severity susceptibility |
ISO |
DNA:polymorphisms:introns: DNA:polymorphisms:promoter, 3'utr: DNA:polymorphism:promoter |
RGD |
PMID:15322986 PMID:16210052 PMID:12241719 |
RGD:1600043, RGD:4145438, RGD:4145428 |
NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
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G |
Il13 |
interleukin 13 |
susceptibility severity no_association |
IMP ISO IDA IEP |
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with Dermatitis, Atopic;DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) DNA:polymorphism: :-1512A>C, -1112C>T, 2044G>A (human) mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid protein:increased expression:serum DNA:polymorphism:cds:p.R130Q (human) DNA:polymorphisms:promoters,exon4: rs1881457, rs1800925, rs20541 (human) DNA:polymorphism: :p. R110Q (human) DNA:SNP: :c. -646A>G (human) protein:increased expression:sputum DNA:polymorphism: :c. 1923C>T (human) DNA:polymorphism:promoter:c. -1055C>T (human) DNA:polymorphisms: :rs20541, rs1295685(human) DNA:polymorphism:3'utr:c.4738G>A (human) DNA:polymorphism: :c.-1055C>T (human) DNA:polymorphism: :c. 2044G>A (human) |
ClinVar OMIM CTD RGD |
PMID:10699178 PMID:11588017 PMID:11709756 PMID:12847555 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:15879126 PMID:22867017 PMID:16120094 PMID:23317483 PMID:17006604 PMID:12604708 PMID:12091879 PMID:20819635 PMID:16393274 PMID:18222984 PMID:11758895 PMID:11678850 PMID:19796199 PMID:18258919 PMID:15315330 PMID:17303794 PMID:18328894 PMID:19575932 PMID:16024972 PMID:20484924 PMID:11588017 PMID:20198887 PMID:18341619 More...
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RGD:4206706, RGD:8549509, RGD:4892639, RGD:2301686, RGD:4145664, RGD:4145453, RGD:4145508, RGD:2307110, RGD:4763153, RGD:4763761, RGD:4145601, RGD:4145639, RGD:4321828, RGD:4146241, RGD:4145777, RGD:4145775, RGD:4220633, RGD:4145534, RGD:4765128, RGD:4145593, RGD:4145776 |
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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G |
Il13ra1 |
interleukin 13 receptor, alpha 1 |
no_association |
IDA ISO IMP IEP |
DNA:polymorphism: :1398A>G (human) DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) DNA:polymorphism: :1050C>T (human) mRNA:increased expression:bronchus |
RGD |
PMID:11714828 PMID:17006604 PMID:17392323 PMID:10686479 PMID:18480254 PMID:20383033 More...
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RGD:4892654, RGD:4892639, RGD:4892650, RGD:4892655, RGD:4892647, RGD:4892646 |
NCBI chr X:35,375,761...35,434,915
Ensembl chr X:35,375,763...35,434,912
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G |
Il13ra2 |
interleukin 13 receptor, alpha 2 |
|
IMP ISO IEP |
protein:increased expression:serum mRNA:increased expression:bronchus |
RGD |
PMID:17885690 PMID:21462799 PMID:20383033 |
RGD:4892649, RGD:8549521, RGD:4892646 |
NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188
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G |
Il15 |
interleukin 15 |
no_association |
IMP ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:15843549 PMID:16629787 PMID:11160248 PMID:15131572 PMID:19133918 |
RGD:5000757, RGD:4984421, RGD:4990462, RGD:5000758, RGD:5000760 |
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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G |
Il16 |
interleukin 16 |
no_association severity |
IMP ISO |
DNA:SNP:promoter:-295T>C (human) protein:increased expression:serum associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:10585533 PMID:15784111 PMID:16387589 PMID:12872394 PMID:16734115 |
RGD:5024937, RGD:5024935, RGD:5024934, RGD:5024930, RGD:5024928 |
NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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G |
Il17a |
interleukin 17A |
susceptibility |
ISO IMP |
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum protein:increased expression:sputum protein:increased expression:alveolar macrophage DNA:SNP:promoter:rs2275913 (human) |
RGD |
PMID:18060619 PMID:20351038 PMID:15730730 PMID:18941201 PMID:20437253 |
RGD:4839043, RGD:4888527, RGD:4889114, RGD:4889152, RGD:4889139 |
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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G |
Il17rb |
interleukin 17 receptor B |
|
IMP |
associated with Picornaviridae Infections |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr14:29,718,125...29,730,853
Ensembl chr14:29,718,092...29,730,853
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G |
Il18 |
interleukin 18 |
severity susceptibility disease_progression |
ISO IMP |
DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) DNA:SNP:promoter:c.and -137G>C (rs187238)(human) protein:increased expression:serum DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:polymorphism: :c. -105A>C (human) |
RGD |
PMID:17767553 PMID:20497957 PMID:16433859 PMID:18826499 PMID:11174201 PMID:20497957 PMID:19745201 PMID:18200581 More...
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RGD:4889585, RGD:4889898, RGD:4889923, RGD:4889908, RGD:4889863, RGD:4889898, RGD:4889900, RGD:4889910 |
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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G |
Il18r1 |
interleukin 18 receptor 1 |
|
ISO IEP |
DNA:SNP: :rs3771166 (human) DNA:SNPs: :multiple (human) |
RGD |
PMID:19910030 PMID:20860503 PMID:18382474 PMID:11972614 PMID:18774397 |
RGD:5024945, RGD:5024942, RGD:5024947, RGD:5024948, RGD:5024946 |
NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014
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G |
Il19 |
interleukin 19 |
|
IEP |
mRNA, protein:increased expression:lung, serum |
RGD |
PMID:15557163 |
RGD:5037236 |
NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
DNA:polymorphisms: : |
RGD |
PMID:18763028 |
RGD:4142802 |
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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G |
Il1b |
interleukin 1 beta |
susceptibility |
IDA ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:neutrophil DNA:polymorphism: :-511C>T (human) |
CTD RGD |
PMID:9176529 PMID:19684087 PMID:19842845 PMID:18926055 |
RGD:4142836, RGD:4142830, RGD:4142864 |
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
susceptibility severity |
IEP ISO IMP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNP: :rs1420101 (human) DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) DNA:SNP: :rs10197862 (human) DNA:SNP: :rs1041973 (human) |
CTD RGD |
PMID:19198610 PMID:21150878 PMID:21804549 PMID:24241537 PMID:27472835 PMID:17623648 PMID:17407196 PMID:19179489 PMID:19198610 PMID:19852851 PMID:21150878 PMID:21281963 PMID:11463601 More...
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RGD:5144235, RGD:5144245, RGD:5144244, RGD:5144243, RGD:5144242, RGD:5144240, RGD:5144239, RGD:5144237 |
NCBI chr 1:40,444,025...40,504,578
Ensembl chr 1:40,468,730...40,504,575
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility severity |
ISO |
DNA:SNP: :rs2234678 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNPs: :rs447713, rs3087271 (human) protein:increased expression:plasma DNA, protein:repeat, decreased expression (human) DNA:polymorphism:intron (human) |
CTD RGD |
PMID:9176529 PMID:17107994 PMID:15020290 PMID:16409203 PMID:16724092 PMID:10843772 PMID:11027520 PMID:18926055 PMID:18763028 More...
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RGD:4143208, RGD:4143216, RGD:4143163, RGD:4143209, RGD:4143225, RGD:4143224, RGD:4142864, RGD:4142802 |
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:SNP:promoter:rs2069762(human) |
RGD |
PMID:20926789 PMID:16333313 |
RGD:4889118, RGD:8663473 |
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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G |
Il21 |
interleukin 21 |
|
ISO |
DNA:SNP:exon:5250C>T (human) |
RGD |
PMID:18802358 |
RGD:5147396 |
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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G |
Il22 |
interleukin 22 |
treatment severity |
IMP ISO |
mRNA:increased expression:blood, mononuclear cell protein:increased expression:serum |
RGD |
PMID:21789181 PMID:21998459 PMID:21535180 PMID:21297073 |
RGD:5147401, RGD:11046261, RGD:5147409, RGD:5147403 |
NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
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G |
Il22b |
interleukin 22B |
severity |
ISO |
protein:increased expression:serum mRNA:increased expression:blood, mononuclear cell |
RGD |
PMID:21297073 PMID:21535180 |
RGD:5147403 RGD:5147409 |
NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943
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G |
Il23r |
interleukin 23 receptor |
|
IMP |
|
RGD |
PMID:19935773 |
RGD:5037240 |
NCBI chr 6:67,399,916...67,468,839
Ensembl chr 6:67,399,916...67,468,839
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G |
Il25 |
interleukin 25 |
|
IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
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G |
Il27 |
interleukin 27 |
treatment susceptibility |
IDA IMP ISO |
protein:increased expression:sputum DNA:SNP: :g.-964A>G (human) |
RGD |
PMID:17878337 PMID:26595888 PMID:20817868 PMID:17318299 PMID:19542437 |
RGD:5128491, RGD:11076728, RGD:4145651, RGD:5128485, RGD:5128479 |
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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G |
Il27ra |
interleukin 27 receptor, alpha |
|
IMP |
|
RGD |
PMID:16081811 |
RGD:5128496 |
NCBI chr 8:84,756,915...84,769,250
Ensembl chr 8:84,756,923...84,769,218
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G |
Il2ra |
interleukin 2 receptor, alpha chain |
|
IMP |
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RGD |
PMID:21377197 PMID:20525707 |
RGD:5147437, RGD:5147445 |
NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004
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G |
Il2rb |
interleukin 2 receptor, beta chain |
|
ISO IMP |
DNA:SNP: :rs2284033 (human) |
RGD |
PMID:20860503 PMID:18641329 |
RGD:5024942, RGD:5147447 |
NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
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G |
Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) DNA:polymorphism:cds:+79T>C(S27P)(human) |
RGD |
PMID:24684517 PMID:15372320 |
RGD:13506914, RGD:13506916 |
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
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G |
Il33 |
interleukin 33 |
treatment severity |
ISO IMP |
CTD Direct Evidence: marker/mechanism associated with viral pneumonia; associated with fungal infectious disease |
CTD RGD |
PMID:19198610 PMID:21804549 PMID:24241537 PMID:27472835 PMID:29067999 PMID:28947081 PMID:25746970 More...
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RGD:39939002, RGD:39938968 |
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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G |
Il4 |
interleukin 4 |
treatment no_association |
IMP ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA, protein:increase expression:leukocyte, serum protein:increased expression:lung DNA:SNP: :589C>T (human) DNA:polymorphism (human) mRNA:increased expression:lung, spleen protein:increased expression:respiratory system fluid/secretion |
CTD RGD |
PMID:18357729 PMID:21375458 PMID:24946644 PMID:24450480 PMID:18211752 PMID:20524005 PMID:21103062 PMID:21364926 PMID:21354484 More...
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RGD:5128557, RGD:10402799, RGD:10402791, RGD:2317290, RGD:5128560, RGD:4889866, RGD:5128500, RGD:5128502 |
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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G |
Il4ra |
interleukin 4 receptor, alpha |
susceptibility severity disease_progression |
ISO IEA IMP |
DNA:polymorphism:cds:p.Q551R (human) OMIM:600807 DNA:polymorphism:cds:p.I50V (human) DNA:polymorphism::-1902G/A (human) DNA:SNPs: :multiple DNA:SNPs:cds:p. I75V, Q576R (human) protein:increased secretion:plasma|DNA:polymorphism:promoter:c.-3223C>T (human) DNA:SNPs:cds:p.E375A, Q551R (human) DNA:polymorphism:cds:p.Q576R (human) DNA:polymorphism:cds:p. S478P (human) DNA:mutation:cds:p.Q576R (mouse) |
MouseDO RGD |
PMID:17586032 PMID:18425216 PMID:20868478 PMID:17823973 PMID:11398072 PMID:12133990 PMID:15479272 PMID:17170387 PMID:12940513 PMID:11709756 PMID:20953944 PMID:20605987 PMID:19770271 PMID:16917945 More...
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RGD:4890348, RGD:4890346, RGD:4890387, RGD:4890347, RGD:4890406, RGD:4890404, RGD:4890351, RGD:4890349, RGD:4890402, RGD:4890024, RGD:5128514, RGD:5128553, RGD:4890003, RGD:4890352 |
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
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G |
Il5 |
interleukin 5 |
treatment disease_progression |
IEP ISO IMP |
protein:increased expression:respiratory system fluid/secretion CTD Direct Evidence: marker/mechanism protein:increased expression:lungs, respiratory system fluid/secretion protein: increased levels: sputum DNA:polymorphism:promoter:-703C>T (human) |
CTD RGD |
PMID:7540862 PMID:23266719 PMID:15626484 PMID:25008888 PMID:11159041 PMID:22085848 PMID:22186238 PMID:15502111 PMID:9182686 PMID:17074272 PMID:9493449 PMID:18629290 PMID:19947994 More...
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RGD:4890947, RGD:11354973, RGD:5687189, RGD:5687144, RGD:5687140, RGD:4890948, RGD:4890963, RGD:4145461, RGD:4890962, RGD:4890940, RGD:4890938 |
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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G |
Il5ra |
interleukin 5 receptor, alpha |
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IMP ISO |
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human) |
RGD |
PMID:10848907 PMID:20592918 PMID:17276963 PMID:10224351 PMID:16217591 PMID:20513521 More...
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RGD:5128627, RGD:5128614, RGD:5128617, RGD:5128623, RGD:5128626, RGD:5128625 |
NCBI chr 6:106,687,336...106,725,998
Ensembl chr 6:106,687,318...106,725,998
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G |
Il6 |
interleukin 6 |
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IDA ISO |
CTD Direct Evidence: marker/mechanism associated with Hypersensitivity;protein:increased expression:sputum protein:increased expression:lung |
CTD RGD |
PMID:29902480 PMID:21115736 PMID:20840469 PMID:20816188 PMID:20658762 |
RGD:5128630, RGD:4143265, RGD:4143266, RGD:4143271 |
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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G |
Il6ra |
interleukin 6 receptor, alpha |
|
IMP ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29902480 PMID:17496315 PMID:21115736 |
RGD:5128662, RGD:5128630 |
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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G |
Il9 |
interleukin 9 |
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ISO IMP IEP |
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum, macrophage, cytoplasm |
RGD |
PMID:21356110 PMID:17446528 PMID:15531759 PMID:15303135 PMID:12153980 |
RGD:5128707, RGD:5128686, RGD:5128690, RGD:5128691, RGD:5128700 |
NCBI chr13:56,627,090...56,630,070
Ensembl chr13:56,627,090...56,630,059
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G |
Il9r |
interleukin 9 receptor |
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ISO |
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RGD |
PMID:10629460 |
RGD:5128704 |
NCBI chr11:32,137,544...32,155,283
Ensembl chr11:32,137,541...32,150,279
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G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:17503328 |
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NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
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G |
Irf1 |
interferon regulatory factor 1 |
no_association susceptibility |
ISO |
DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) DNA:repeat:intron (human) protein:increased expression:respiratory tract epithelium |
RGD |
PMID:11069564 PMID:16961714 PMID:10225979 |
RGD:5128726, RGD:5128724, RGD:5128723 |
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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G |
Irf3 |
interferon regulatory factor 3 |
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IMP |
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RGD |
PMID:20673978 |
RGD:5128793 |
NCBI chr 7:44,647,072...44,652,272
Ensembl chr 7:44,647,072...44,652,272
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G |
Itgb3 |
integrin beta 3 |
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ISO |
DNA:SNPs: : |
RGD |
PMID:17556058 |
RGD:5037230 |
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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G |
Itgb6 |
integrin beta 6 |
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IEA |
OMIM:600807 |
MouseDO |
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NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor 1 |
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ISO |
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RGD |
PMID:21777465 |
RGD:5147661 |
NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
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G |
Kdr |
kinase insert domain protein receptor |
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IMP ISO |
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: |
RGD |
PMID:20921519 PMID:17651148 |
RGD:5684385, RGD:8551771 |
NCBI chr 5:76,093,487...76,139,885
Ensembl chr 5:76,093,487...76,139,118
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G |
Kif3a |
kinesin family member 3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr11:53,456,531...53,495,075
Ensembl chr11:53,458,206...53,492,794
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G |
Krt19 |
keratin 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15478392 |
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NCBI chr11:100,031,636...100,036,752
Ensembl chr11:100,031,636...100,039,491
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G |
Lep |
leptin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:19705789 |
RGD:5128781 |
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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G |
Lgals3 |
lectin, galactose binding, soluble 3 |
treatment |
ISO |
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RGD |
PMID:16424226 |
RGD:9685213 |
NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
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G |
Lta |
lymphotoxin A |
susceptibility no_association |
ISO |
DNA:polymorphisms:promoter DNA:polymorphism:intron |
RGD |
PMID:15969671 PMID:18947013 PMID:17536219 PMID:12530118 |
RGD:4143373, RGD:4143370, RGD:4143371, RGD:4143254 |
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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G |
Lta4h |
leukotriene A4 hydrolase |
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ISO |
mRNA:increased expression:lung, cerebral cortex (rat) |
RGD |
PMID:15715933 |
RGD:2316607 |
NCBI chr10:93,289,258...93,320,758
Ensembl chr10:93,289,273...93,320,737
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G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
susceptibility |
ISO |
associated with Bronchiolitis;DNA:polymorphism:exon: DNA:SNP:cds:p.G54D(human) |
RGD |
PMID:22512728 PMID:22674410 |
RGD:8693709, RGD:12910828 |
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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G |
Mefv |
Mediterranean fever |
susceptibility |
ISO |
DNA:mutations:exons |
RGD |
PMID:18219832 |
RGD:5129186 |
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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G |
Mif |
macrophage migration inhibitory factor (glycosylation-inhibiting factor) |
severity |
ISO IMP |
protein:increased expression:bronchoalveolar lavage fluid DNA:SNP:promoter:rs755622(human) DNA:repeats:promoter |
RGD |
PMID:9637721 PMID:19317738 PMID:17373669 PMID:16186482 PMID:16455830 |
RGD:4891043, RGD:4891059, RGD:4891035, RGD:4891052, RGD:1641985 |
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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G |
Mmp10 |
matrix metallopeptidase 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
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NCBI chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241
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G |
Mmp1b |
matrix metallopeptidase 1b (interstitial collagenase) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469321 |
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NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:lung DNA:SNP: : rs2664538(human) mRNA, protein:increased expression:lung |
CTD RGD |
PMID:11742282 PMID:15131573 PMID:21439806 PMID:19361849 PMID:20181264 PMID:16191269 PMID:19940022 More...
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RGD:5129204, RGD:5129687, RGD:5130859, RGD:2325953, RGD:5129522 |
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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G |
Mpo |
myeloperoxidase |
susceptibility |
ISO |
DNA:polymorphism: :−463G > A (human) protein:increased expression:serum |
RGD |
PMID:19544176 PMID:10731862 |
RGD:5130989, RGD:5130994 |
NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239
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G |
Ms4a2 |
membrane-spanning 4-domains, subfamily A, member 2 |
susceptibility |
ISO |
DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 DNA:SNPs: : rs556917, rs502581, rs502419 (human) DNA:SNP: : -109C>T (human) Atopy and bronchial hyperresponsiveness, OMIM:147050 |
RGD |
PMID:19218813 PMID:21320344 PMID:19862939 PMID:8817330 |
RGD:5131151, RGD:5131149, RGD:5131092, RGD:1599903 |
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:20456312 |
RGD:4891145 |
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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G |
Muc1 |
mucin 1, transmembrane |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:11802251 |
RGD:5131281 |
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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G |
Muc2 |
mucin 2 |
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ISO IEP |
associated with hypersensitivity |
RGD |
PMID:11062147 PMID:14594655 |
RGD:5131178, RGD:7349354 |
NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430
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G |
Muc5ac |
mucin 5, subtypes A and C, tracheobronchial/gastric |
treatment |
ISO IDA IEP |
protein:increased expression:lung mRNA, protein:increased expression:lung mRNA,protein:increased expression:lung |
RGD |
PMID:17698377 PMID:21549818 PMID:21780541 PMID:14594655 PMID:17590487 |
RGD:5131204, RGD:7364729, RGD:7349407, RGD:7349354, RGD:2324962 |
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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G |
Muc5b |
mucin 5, subtype B, tracheobronchial |
|
ISO IEP |
protein:altered expression:sputum |
RGD |
PMID:11802783 PMID:11587997 |
RGD:5131252, RGD:7364763 |
NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821
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G |
Myb |
myeloblastosis oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
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G |
Myd88 |
myeloid differentiation primary response gene 88 |
ameliorates |
IMP |
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RGD |
PMID:26882889 |
RGD:11531666 |
NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477
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G |
Mylk |
myosin, light polypeptide kinase |
|
ISO |
|
RGD |
PMID:17472811 |
RGD:4891492 |
NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
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G |
Nat2 |
N-acetyltransferase 2 (arylamine N-acetyltransferase) |
susceptibility |
ISO |
DNA:polymorphisms: : Asthma, Aspirin-Induced; DNA:polymorphism: : |
RGD |
PMID:16924569 PMID:20602614 |
RGD:5131606, RGD:5131600 |
NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
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G |
Nfe2l2 |
nuclear factor, erythroid derived 2, like 2 |
severity |
ISO |
mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) |
RGD |
PMID:21514635 |
RGD:6893376 |
NCBI chr 2:75,505,857...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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G |
Ngf |
nerve growth factor |
severity |
ISO IEP |
protein:increased expression:blood, eosinophil protein:increased expression:lung, serum |
RGD |
PMID:12752594 PMID:17164945 PMID:11737043 PMID:17497413 |
RGD:4891122, RGD:4891108, RGD:4891123, RGD:4891068 |
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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G |
Ngfr |
nerve growth factor receptor (TNFR superfamily, member 16) |
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IMP |
|
RGD |
PMID:16603479 PMID:12540484 |
RGD:5144070, RGD:5144072 |
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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G |
Nod1 |
nucleotide-binding oligomerization domain containing 1 |
susceptibility |
ISO |
DNA:SNP: :rs2075817 (human) DNA:insertion:cds: |
RGD |
PMID:16918516 PMID:15718249 |
RGD:5131519, RGD:5131518 |
NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO IDA |
DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human) |
RGD |
PMID:16008671 PMID:21051079 |
RGD:5131477, RGD:5508757 |
NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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G |
Nos1 |
nitric oxide synthase 1, neuronal |
susceptibility |
ISO |
DNA:repeats:exon DNA:repeats:intron DNA:repeats: : |
RGD |
PMID:10833424 PMID:14767694 PMID:10673365 PMID:20609134 |
RGD:5132860, RGD:5132615, RGD:5132869, RGD:5132863 |
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
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G |
Nos2 |
nitric oxide synthase 2, inducible |
severity disease_progression no_association |
IMP ISO IEP |
CTD Direct Evidence: marker/mechanism protein:increased expression, increased activity:lung (rat) DNA:repeats:promoter protein:increased expression:lung, bronchoalveolar lavage fluid associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa DNA:repeats:promoter, introns (human) DNA:SNP:exon:p.S608L (human) mRNA:increased expression:monocyte DNA:repeat:promoter |
CTD RGD |
PMID:19800904 PMID:20841959 PMID:21847581 PMID:18714530 PMID:17161822 PMID:18254476 PMID:17189532 PMID:17177683 PMID:20842520 PMID:16540403 PMID:16703578 More...
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RGD:4891480, RGD:5509073, RGD:4891508, RGD:4891927, RGD:4891910, RGD:4891924, RGD:4891925, RGD:4891419, RGD:4891957, RGD:4891953 |
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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G |
Nos3 |
nitric oxide synthase 3, endothelial cell |
susceptibility |
ISO |
DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) DNA:repeats:intron |
RGD |
PMID:18486767 PMID:16837812 PMID:16081038 |
RGD:4892053, RGD:4892058, RGD:4892062 |
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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G |
Npsr1 |
neuropeptide S receptor 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 |
CTD OMIM ClinVar RGD |
PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187 PMID:15073379 PMID:18285428 PMID:17702965 More...
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RGD:4891921, RGD:4891922, RGD:4891923 |
NCBI chr 9:24,009,212...24,229,151
Ensembl chr 9:24,009,292...24,227,694
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G |
Npy |
neuropeptide Y |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9731035 |
|
NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
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G |
Nqo1 |
NAD(P)H dehydrogenase, quinone 1 |
susceptibility |
ISO |
DNA:SNP:exon:c. 609C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:c.609C>T (human) |
CTD RGD |
PMID:20049212 PMID:19027876 PMID:19591959 |
RGD:5135006, RGD:5135005 |
NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
treatment susceptibility severity |
ISO |
DNA:polymorphism:intron protein:increased expression, decreased activity:leukocyte, mononuclear |
RGD |
PMID:18396779 PMID:20727335 PMID:21113676 PMID:18799869 PMID:15295049 |
RGD:4892328, RGD:7174728, RGD:4892568, RGD:4892594, RGD:4892609 |
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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G |
Ntf3 |
neurotrophin 3 |
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IEP ISO |
protein:increased expression:lung, serum |
RGD |
PMID:17497413 PMID:11737043 |
RGD:4891068, RGD:4891123 |
NCBI chr 6:126,078,375...126,143,734
Ensembl chr 6:126,078,375...126,143,873
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Ntf5 |
neurotrophin 5 |
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IEP |
protein:increased expression:lung, serum |
RGD |
PMID:17497413 |
RGD:4891068 |
NCBI chr 7:45,063,119...45,066,603
Ensembl chr 7:45,063,119...45,066,603
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G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
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IMP ISO |
mRNA:increased expression:lung: |
RGD |
PMID:20934630 PMID:16708804 |
RGD:5684766, RGD:5684772 |
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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G |
Ormdl3 |
ORM1-like 3 (S. cerevisiae) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 PMID:25256354 |
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NCBI chr11:98,472,120...98,478,071
Ensembl chr11:98,472,082...98,478,194
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G |
P2ry12 |
purinergic receptor P2Y, G-protein coupled 12 |
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ISO IMP |
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RGD |
PMID:22010907 PMID:19822647 |
RGD:6480532, RGD:6480533 |
NCBI chr 3:59,123,692...59,170,408
Ensembl chr 3:59,123,693...59,170,292
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G |
Parp1 |
poly (ADP-ribose) polymerase family, member 1 |
treatment |
IMP ISO |
CTD Direct Evidence: marker/mechanism protein:increased activation:lung, blood, mononuclear cell |
CTD RGD |
PMID:18261157 PMID:12594058 PMID:26205779 PMID:26205779 |
RGD:5683910, RGD:11073727, RGD:11073727 |
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
IMP |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
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G |
Pde4b |
phosphodiesterase 4B, cAMP specific |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr 4:101,944,529...102,464,472
Ensembl chr 4:101,944,740...102,464,456
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G |
Pde4d |
phosphodiesterase 4D, cAMP specific |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19426955 PMID:21611147 |
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NCBI chr13:108,790,711...110,092,503
Ensembl chr13:108,586,482...110,089,995
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G |
Pdgfb |
platelet derived growth factor, B polypeptide |
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IEP ISO |
protein: increased expression |
RGD |
PMID:21216974 PMID:21216974 |
RGD:6483071, RGD:6483071 |
NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
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G |
Pgf |
placental growth factor |
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IMP |
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RGD |
PMID:22268141 |
RGD:6483605 |
NCBI chr12:85,213,411...85,224,559
Ensembl chr12:85,213,409...85,224,564
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
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IMP |
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RGD |
PMID:18754810 |
RGD:6482695 |
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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G |
Pin1 |
peptidyl-prolyl cis/trans isomerase, NIMA-interacting 1 |
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IMP |
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RGD |
PMID:18188456 |
RGD:8693422 |
NCBI chr 9:20,563,335...20,575,008
Ensembl chr 9:20,563,391...20,577,880
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G |
Pla2g4a |
phospholipase A2, group IVA (cytosolic, calcium-dependent) |
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ISO |
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RGD |
PMID:15557087 |
RGD:1642462 |
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
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G |
Pla2g7 |
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma and atopy, susceptibility to |
OMIM CTD ClinVar RGD |
PMID:10733466 PMID:15115767 PMID:10733466 |
RGD:1581025 |
NCBI chr17:43,878,885...43,923,093
Ensembl chr17:43,878,989...43,923,092
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21912604 PMID:18519237 |
RGD:4892037 |
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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G |
Ppp2ca |
protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22205926 |
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NCBI chr11:51,989,651...52,013,576
Ensembl chr11:51,989,508...52,018,605
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G |
Prf1 |
perforin 1 (pore forming protein) |
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IMP ISO |
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RGD |
PMID:22250087 PMID:21426642 |
RGD:6482815, RGD:6482818 |
NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459
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G |
Prg2 |
proteoglycan 2, bone marrow |
severity disease_progression no_association |
ISO IMP |
mRNA:increased expression:eosinophil: associated with cough;protein:increased expression:sputum: associated with viral infection;mRNA:increased expression:sputum: |
RGD |
PMID:16982448 PMID:22022864 PMID:24450586 PMID:11067904 |
RGD:13506941, RGD:13506944, RGD:13506943, RGD:13506942 |
NCBI chr 2:84,810,805...84,813,977
Ensembl chr 2:84,810,805...84,813,976
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G |
Prmt1 |
protein arginine N-methyltransferase 1 |
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ISO |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 7:44,626,179...44,635,844
Ensembl chr 7:44,625,413...44,635,992
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G |
Prmt2 |
protein arginine N-methyltransferase 2 |
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ISO |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr10:76,043,060...76,073,699
Ensembl chr10:76,043,056...76,073,699
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G |
Prmt3 |
protein arginine N-methyltransferase 3 |
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ISO |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 7:49,428,067...49,508,016
Ensembl chr 7:49,428,094...49,508,013
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G |
Prmt5 |
protein arginine N-methyltransferase 5 |
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ISO |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
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Proc |
protein C |
treatment |
ISO |
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RGD |
PMID:26381519 |
RGD:11099992 |
NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
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G |
Prol1 |
proline rich, lacrimal 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, protection against CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:11378823 PMID:16759176 |
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NCBI chr 5:88,465,171...88,476,676
Ensembl chr 5:88,465,171...88,476,673
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17982072 |
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NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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G |
Ptgdr |
prostaglandin D receptor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr14:45,088,692...45,096,832
Ensembl chr14:45,088,692...45,096,832
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G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
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ISO IMP |
Aspirin exacerbated asthma CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:27103662 PMID:19796209 PMID:19392992 PMID:18757520 |
RGD:5135020, RGD:5135019, RGD:5135018 |
NCBI chr19:10,901,883...10,919,875
Ensembl chr19:10,914,524...10,919,875
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G |
Ptger3 |
prostaglandin E receptor 3 (subtype EP3) |
treatment |
ISO |
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RGD |
PMID:23221044 |
RGD:10043366 |
NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
susceptibility severity |
ISO IEP IMP |
mRNA:increased expression:lung DNA:SNP: :8473T>C (human) mRNA, protein:increased expression:lung: DNA:SNP: :rs689465 (human) |
RGD |
PMID:19862936 PMID:19878559 PMID:15316498 PMID:17573729 PMID:18097056 PMID:18489027 PMID:19342146 More...
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RGD:5135515, RGD:5135514, RGD:5143931, RGD:5143923, RGD:5135534, RGD:5135526, RGD:5135522 |
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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G |
Rad50 |
RAD50 double strand break repair protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
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NCBI chr11:53,540,346...53,598,146
Ensembl chr11:53,540,346...53,598,146
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G |
Rhoa |
ras homolog family member A |
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ISO |
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RGD |
PMID:18391481 |
RGD:2298885 |
NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133
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G |
Runx1 |
runt related transcription factor 1 |
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ISO |
DNA:SNPs: :multiple |
RGD |
PMID:21803869 |
RGD:6482835 |
NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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G |
Runx3 |
runt related transcription factor 3 |
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IEA |
OMIM:600807 |
MouseDO |
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NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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G |
Scgb1a1 |
secretoglobin, family 1A, member 1 (uteroglobin) |
susceptibility |
ISO |
mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung: ClinVar Annotator: match by term: Asthma, susceptibility to associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) protein:decreased expression:serum |
ClinVar RGD |
PMID:9550363 PMID:12921604 PMID:21255142 PMID:15467329 |
RGD:5144052, RGD:5144226, RGD:5144148 |
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility severity no_association |
ISO IEP IDA |
DNA:SNP:promoter:-112G>A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma, susceptibility to mRNA,protein:decreased expression:;lung protein:increased expression:sputum |
CTD OMIM ClinVar RGD |
PMID:11813133 PMID:11813133 PMID:15531759 PMID:16456148 PMID:17218572 PMID:18089940 PMID:18201431 More...
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RGD:5144229, RGD:5128690, RGD:5144233, RGD:5144232, RGD:5144231, RGD:5144230 |
NCBI chr18:43,897,346...43,900,464
Ensembl chr18:43,897,354...43,900,464
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G |
Sell |
selectin, lymphocyte |
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IMP |
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RGD |
PMID:21437035 PMID:21515793 |
RGD:5685685, RGD:5685696 |
NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750
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G |
Serpine1 |
serine (or cysteine) peptidase inhibitor, clade E, member 1 |
severity susceptibility no_association |
ISO |
protein:increased expression:plasma DNA:polymorphism:promoter:rs1799768 (human) protein:increased activity, increased expression:plasma, lung |
RGD |
PMID:19703828 PMID:19063817 PMID:19604112 PMID:18594148 |
RGD:4144831, RGD:4144832, RGD:4144833, RGD:4144836 |
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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G |
Sftpa1 |
surfactant associated protein A1 |
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ISO IEP |
protein:decreased expression:lung, Clara cell, pneumocyte mRNA, protein:increased expression:lung |
RGD |
PMID:15816355 PMID:16629790 PMID:18926058 PMID:18802356 |
RGD:4143398, RGD:4143462, RGD:4143289, RGD:4143516 |
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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G |
Sftpb |
surfactant associated protein B |
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ISO IEP |
protein:increased expression:lung mRNA, protein:decreased expression:lung protein:decreased expression:lung, Clara cell |
RGD |
PMID:16629790 PMID:11472974 PMID:15816355 PMID:18926058 |
RGD:4143462, RGD:4143465, RGD:4143398, RGD:4143289 |
NCBI chr 6:72,281,594...72,291,356
Ensembl chr 6:72,281,594...72,291,354
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G |
Sftpc |
surfactant associated protein C |
susceptibility |
ISO IEP |
DNA:polymorphism: :p.A53T (human) protein:increased expression:lung mRNA, protein:decreased expression:lung |
RGD |
PMID:19910179 | |