Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:24033266 and PMID:28492532 | MHC class I deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar | PMID:1570316 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:10074494 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:10074494 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:17576681 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:15897556 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:28492532 | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:28492532 | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:28492532 | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:25741868 | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar | PMID:25741868 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:10074494 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:10074494 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:10074494 and PMID:3891604 | proteasome-associated autoinflammatory syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Transporter associated with antigen processing (TAP) 1 gene polymorphisms in patients with hypersensitivity pneumonitis. | Aquino-Galvez A, etal., Exp Mol Pathol. 2008 Apr;84(2):173-7. Epub 2008 Feb 14. |
| 2. | Susceptibility to Reiter's syndrome is associated with alleles of TAP genes. | Barron KS, etal., Arthritis Rheum. 1995 May;38(5):684-9. |
| 3. | The genetic association database. | Becker KG, etal., Nat Genet. 2004 May;36(5):431-2. |
| 4. | TAP1 and TAP2 transporter genes and predisposition to insulin dependent diabetes mellitus. | Caillat-Zucman S, etal., C R Acad Sci III. 1992;315(13):535-9. |
| 5. | Variation in HLA class I antigen-processing genes and susceptibility to human papillomavirus type 16-associated cervical cancer. | Deshpande A, etal., J Infect Dis. 2008 Feb 1;197(3):371-81. |
| 6. | The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children. | Dogru D, etal., Pediatr Pulmonol. 2007 Mar;42(3):237-41. |
| 7. | Transporter associated with antigen processing and the chaperone tapasin: are non-classical HLA genes keys to the pathogenesis of schizophrenia? | Fellerhoff B and Wank R, Med Hypotheses. 2009 May;72(5):535-8. Epub 2009 Feb 12. |
| 8. | TAP1 and TAP2 polymorphisms associated with ankylosing spondylitis in genetically homogenous Chinese Han population. | Feng M, etal., Hum Immunol. 2009 Apr;70(4):257-61. Epub 2009 Feb 4. |
| 9. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 10. | TAP1, TAP2, and HLA-DR2 alleles are predictors of cervical cancer risk. | Gostout BS, etal., Gynecol Oncol. 2003 Mar;88(3):326-32. |
| 11. | TAP1 gene AccI polymorphism is associated with atopic bronchial asthma. | Hang LW, etal., J Clin Lab Anal. 2003;17(2):57-60. |
| 12. | The interaction of the polymorphisms in transporter of antigen peptides (TAP) and lymphotoxin alpha (LT-alpha) genes and atopic diseases in the Czech population. | Izakovicova Holla L, etal., Clin Exp Allergy. 2001 Sep;31(9):1418-23. |
| 13. | TAP1 and TAP2 gene polymorphisms in Korean patients with allergic rhinitis. | Kim KR, etal., J Korean Med Sci. 2007 Oct;22(5):825-31. |
| 14. | Transporter associated with antigen processing gene 1 codon 333 and codon 637 polymorphisms are associated with primary open-angle glaucoma. | Lin HJ, etal., Mol Diagn. 2004;8(4):245-52. |
| 15. | Down-regulation of HLA class I antigen-processing machinery components in esophageal squamous cell carcinomas: association with disease progression. | Liu Q, etal., Scand J Gastroenterol. 2009;44(8):960-9. |
| 16. | Evaluation of TAP1 polymorphisms with insulin dependent diabetes mellitus in Finnish diabetic patients. The Childhood Diabetes in Finland (DiMe) Study Group. | Ma L, etal., Hum Immunol. 1997 Apr 1;53(2):159-66. |
| 17. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 18. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 19. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 20. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 21. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 22. | Association of TAP1 and TAP2 gene polymorphisms with systemic sclerosis in Korean patients. | Song YW, etal., Hum Immunol. 2005 Jul;66(7):810-7. |
| 23. | Association of TAP 1 and 2 gene polymorphisms with human immunodeficiency virus-tuberculosis co-infection. | Sunder SR, etal., Hum Immunol. 2011 Oct;72(10):908-11. Epub 2011 Jul 31. |
| 24. | Polymorphisms of the TAP1 and TAP2 transporter genes in Japanese SLE. | Takeuchi F, etal., Ann Rheum Dis. 1996 Dec;55(12):924-6. |
| 25. | Lack of association between gene polymorphism of transporters associated with antigen processing and allergic rhinitis in a Japanese population. | Takeuchi K, etal., Ann Otol Rhinol Laryngol. 2002 May;111(5 Pt 1):460-3. |
| 26. | Altered expression of TAP-1 and major histocompatibility complex class I in laryngeal papillomatosis: correlation of TAP-1 with disease. | Vambutas A, etal., Clin Diagn Lab Immunol. 2000 Jan;7(1):79-85. |
| 27. | Polymorphism of transporter associated with antigen presentation 1 as a potential determinant for severity of disease in recurrent respiratory papillomatosis caused by human papillomavirus types 6 and 11. | Vambutas A, etal., J Infect Dis. 2004 Mar 1;189(5):871-9. Epub 2004 Feb 16. |
| 28. | Polymorphisms in inflammation genes (angiotensinogen, TAP1 and TNF-beta) in psoriasis. | Vasku V, etal., Arch Dermatol Res. 2000 Nov;292(11):531-4. |
| 29. | Reduced expression of Tap1 and Lmp2 antigen-processing genes in the nonobese diabetic (NOD) mouse due to a mutation in their shared bidirectional promoter. | Yan G, etal., J Immunol. 1997 Sep 15;159(6):3068-80. |
| 30. | Screening of the TAP1 gene by denaturing gradient gel electrophoresis in insulin-dependent diabetes mellitus: detection and comparison of new polymorphisms between patients and controls. | Yan G, etal., Tissue Antigens. 1997 Dec;50(6):576-85. |
Additional References at PubMed
| PMID:1453454 | PMID:1529427 | PMID:1538751 | PMID:1570316 | PMID:1946428 | PMID:2259383 | PMID:2259384 | PMID:2342577 | PMID:7500034 | PMID:7538543 | PMID:7673167 | PMID:8168860 |
| PMID:8248212 | PMID:8453065 | PMID:8458375 | PMID:8568858 | PMID:8640228 | PMID:8670825 | PMID:8805302 | PMID:8955196 | PMID:9103419 | PMID:9175839 | PMID:9310490 | PMID:9545232 |
| PMID:9774463 | PMID:10074494 | PMID:10227971 | PMID:10508608 | PMID:10605026 | PMID:11096258 | PMID:11133832 | PMID:11157746 | PMID:11169396 | PMID:11250043 | PMID:11250044 | PMID:11381133 |
| PMID:11532960 | PMID:11737038 | PMID:11774612 | PMID:11775239 | PMID:11788900 | PMID:11823531 | PMID:11884415 | PMID:11960305 | PMID:12026214 | PMID:12047361 | PMID:12047747 | PMID:12213826 |
| PMID:12225333 | PMID:12234057 | PMID:12477932 | PMID:12485523 | PMID:12505156 | PMID:12507827 | PMID:12539042 | PMID:12582163 | PMID:12594855 | PMID:12634240 | PMID:12645939 | PMID:12648225 |
| PMID:12648282 | PMID:12682044 | PMID:12687213 | PMID:12729048 | PMID:12777379 | PMID:12777979 | PMID:12786997 | PMID:12827444 | PMID:12857899 | PMID:12878362 | PMID:12911283 | PMID:14551602 |
| PMID:14558951 | PMID:14679198 | PMID:14694183 | PMID:14702039 | PMID:14749980 | PMID:15306733 | PMID:15322097 | PMID:15336779 | PMID:15343265 | PMID:15488952 | PMID:15518576 | PMID:15548263 |
| PMID:15577206 | PMID:15686587 | PMID:15711027 | PMID:15778351 | PMID:15793001 | PMID:15897556 | PMID:15905524 | PMID:16061226 | PMID:16174096 | PMID:16189514 | PMID:16191421 | PMID:16215317 |
| PMID:16216677 | PMID:16356928 | PMID:16407277 | PMID:16604487 | PMID:16634865 | PMID:16640035 | PMID:16691491 | PMID:16731921 | PMID:16828748 | PMID:16864587 | PMID:16923719 | PMID:16956670 |
| PMID:17055437 | PMID:17068338 | PMID:17164240 | PMID:17382375 | PMID:17418234 | PMID:17491658 | PMID:17498556 | PMID:17525827 | PMID:17581627 | PMID:17649665 | PMID:17703412 | PMID:17875943 |
| PMID:17917315 | PMID:17940597 | PMID:17947644 | PMID:18071882 | PMID:18191725 | PMID:18199642 | PMID:18380807 | PMID:18385764 | PMID:18433405 | PMID:18694960 | PMID:18764808 | PMID:18802093 |
| PMID:19148137 | PMID:19165146 | PMID:19188174 | PMID:19201886 | PMID:19202550 | PMID:19247692 | PMID:19258923 | PMID:19263211 | PMID:19297616 | PMID:19343046 | PMID:19387463 | PMID:19404951 |
| PMID:19439551 | PMID:19549407 | PMID:19609238 | PMID:19808685 | PMID:19851445 | PMID:19913121 | PMID:19946888 | PMID:19953286 | PMID:20134267 | PMID:20141545 | PMID:20193774 | PMID:20204276 |
| PMID:20230813 | PMID:20450707 | PMID:20452482 | PMID:20470844 | PMID:20503287 | PMID:20525414 | PMID:20628086 | PMID:20673868 | PMID:20820776 | PMID:20877624 | PMID:21098634 | PMID:21205905 |
| PMID:21207025 | PMID:21362330 | PMID:21399633 | PMID:21516116 | PMID:21796142 | PMID:21873635 | PMID:21914809 | PMID:21988832 | PMID:22002058 | PMID:22025554 | PMID:22031944 | PMID:22065046 |
| PMID:22298786 | PMID:22638925 | PMID:22684063 | PMID:22810586 | PMID:22932452 | PMID:22939629 | PMID:22989262 | PMID:23272491 | PMID:23302073 | PMID:23340176 | PMID:23395648 | PMID:23682387 |
| PMID:23799215 | PMID:23834030 | PMID:24175803 | PMID:24196954 | PMID:24247241 | PMID:24288424 | PMID:24501197 | PMID:24623722 | PMID:24655325 | PMID:24711643 | PMID:24803408 | PMID:24923865 |
| PMID:25198552 | PMID:25377891 | PMID:25398693 | PMID:25403418 | PMID:25548428 | PMID:25656091 | PMID:25846714 | PMID:26496610 | PMID:26638075 | PMID:26735690 | PMID:26782532 | PMID:26789246 |
| PMID:26871637 | PMID:26996113 | PMID:27068360 | PMID:27098790 | PMID:27935481 | PMID:28289864 | PMID:28298427 | PMID:28356387 | PMID:28405734 | PMID:28514442 | PMID:28542489 | PMID:28692057 |
| PMID:28700671 | PMID:28813667 | PMID:29091951 | PMID:29128334 | PMID:29180619 | PMID:29507755 | PMID:29879547 | PMID:29931158 | PMID:30082158 | PMID:30833792 | PMID:31091453 | PMID:31678930 |
| PMID:31871319 | PMID:32108992 | PMID:32296183 | PMID:32748110 | PMID:32867395 | PMID:33024031 | PMID:33507546 | PMID:33545068 | PMID:33736739 | PMID:33925089 | PMID:33961781 | PMID:34047812 |
| PMID:34050605 | PMID:34079125 | PMID:34231820 | PMID:34373132 | PMID:34973498 | PMID:35271311 | PMID:35485366 | PMID:35696571 | PMID:35806187 | PMID:35944360 | PMID:35961308 | PMID:36136978 |
| PMID:36215168 | PMID:36517590 | PMID:36759763 | PMID:36774490 | PMID:36880596 | PMID:37827155 |
Genomics
Comparative Map Data
| TAP1 (Homo sapiens - human) |
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| Tap1 (Mus musculus - house mouse) |
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| Tap1 (Rattus norvegicus - Norway rat) |
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| Tap1 (Chinchilla lanigera - long-tailed chinchilla) |
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| TAP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| TAP1 (Canis lupus familiaris - dog) |
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| Tap1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| TAP1 (Sus scrofa - pig) |
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| TAP1 (Chlorocebus sabaeus - green monkey) |
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| Tap1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in TAP1
359 total Variants 
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