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:10560675 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:11529920 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar | PMID:1570316 and PMID:28492532 | MHC class I deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:11529920 more ... | 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) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:17576681 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) and (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24033266 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:24033266 and 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) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:24033266 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar | PMID:1570316 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:25741868 more ... | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:10560675 | MHC class I deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class I deficiency | ClinVar | PMID:7517574 | proteasome-associated autoinflammatory syndrome 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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Disease Annotations
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Phenotype Annotations
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Susceptibility to Reiter's syndrome is associated with alleles of TAP genes. | Barron KS, etal., Arthritis Rheum. 1995 May;38(5):684-9. |
| 2. | The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility. | Bell RB and Ramachandran S, J Neuroimmunol. 1995 Jun;59(1-2):201-4. |
| 3. | A TAP2 genotype associated with Alzheimer's disease in APOE4 carriers. | Bullido MJ, etal., Neurobiol Aging. 2007 Apr;28(4):519-23. Epub 2006 Apr 3. |
| 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. | TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. | Correa PA, etal., Ann Rheum Dis. 2003 Apr;62(4):363-5. |
| 6. | 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. |
| 7. | 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. |
| 8. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 9. | TAP1, TAP2, and HLA-DR2 alleles are predictors of cervical cancer risk. | Gostout BS, etal., Gynecol Oncol. 2003 Mar;88(3):326-32. |
| 10. | Contribution of TAP genes to genetic predisposition for diffuse panbronchiolitis. | Keicho N, etal., Tissue Antigens. 1999 Apr;53(4 Pt 1):366-73. |
| 11. | Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline. | Kim JH, etal., J Hum Genet. 2011 Jul 28. doi: 10.1038/jhg.2011.75. |
| 12. | Strong associations of psoriasis with antigen processing LMP and transport genes TAP differ by gender and phenotype. | Kramer U, etal., Genes Immun. 2007 Sep;8(6):513-7. Epub 2007 Jun 21. |
| 13. | 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. |
| 14. | Genetic variation of antigen processing machinery components and association with cervical carcinoma. | Mehta AM, etal., Genes Chromosomes Cancer. 2007 Jun;46(6):577-86. |
| 15. | TAP1 and TAP2 polymorphism in multiple sclerosis patients. | Middleton D, etal., Hum Immunol. 1994 Jun;40(2):131-4. |
| 16. | TAP2 gene polymorphism contributes to genetic susceptibility to multiple sclerosis. | Moins-Teisserenc H, etal., Hum Immunol. 1995 Mar;42(3):195-202. |
| 17. | Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. | Moins-Teisserenc HT, etal., Lancet. 1999 Nov 6;354(9190):1598-603. |
| 18. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 19. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 20. | Genetic control of alternative splicing in the TAP2 gene: possible implication in the genetics of type 1 diabetes. | Qu HQ, etal., Diabetes. 2007 Jan;56(1):270-5. |
| 21. | Transporter associated with antigen-processing (TAP) genes and susceptibility to tuberculoid leprosy and pulmonary tuberculosis. | Rajalingam R, etal., Tissue Antigens. 1997 Feb;49(2):168-72. |
| 22. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 23. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 24. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 25. | TAP1 and TAP2 genes in nickel allergy. | Silvennoinen-Kassinen S, etal., Int Arch Allergy Immunol. 1997 Sep;114(1):94-6. |
| 26. | Association of TAP1 and TAP2 gene polymorphisms with systemic sclerosis in Korean patients. | Song YW, etal., Hum Immunol. 2005 Jul;66(7):810-7. |
| 27. | Significance of transporter associated with antigen processing 2 (TAP2) gene polymorphisms in susceptibility to dengue viral infection. | Soundravally R and Hoti SL, J Clin Immunol. 2008 May;28(3):256-62. |
| 28. | Polymorphisms of the TAP1 and TAP2 transporter genes in Japanese SLE. | Takeuchi F, etal., Ann Rheum Dis. 1996 Dec;55(12):924-6. |
| 29. | TAP2 alleles in inflammatory arthritis. | Tuokko J, etal., Scand J Rheumatol. 1998;27(3):225-9. |
Additional References at PubMed
| PMID:1453454 | PMID:1529427 | PMID:1538751 | PMID:1570316 | PMID:1741401 | PMID:1946428 | PMID:2259383 | PMID:7500034 | PMID:7517574 | PMID:7538543 | PMID:7673167 | PMID:7792761 |
| PMID:7835969 | PMID:8125298 | PMID:8162639 | PMID:8428770 | PMID:8453065 | PMID:8458375 | PMID:8496691 | PMID:8568858 | PMID:8670825 | PMID:8773329 | PMID:8805302 | PMID:8955196 |
| PMID:9002450 | PMID:9103419 | PMID:9175839 | PMID:9324024 | PMID:9427624 | PMID:9551969 | PMID:9672156 | PMID:9916708 | PMID:10227971 | PMID:10508608 | PMID:10605026 | PMID:10835348 |
| PMID:11096258 | PMID:11133832 | PMID:11157746 | PMID:11229461 | PMID:11294565 | PMID:11381133 | PMID:11494532 | PMID:11532960 | PMID:11737038 | PMID:11774612 | PMID:11775239 | PMID:11916171 |
| PMID:11960305 | PMID:12018331 | PMID:12026214 | PMID:12047361 | PMID:12047747 | PMID:12202157 | PMID:12213826 | PMID:12225333 | PMID:12234057 | PMID:12477932 | PMID:12485523 | PMID:12505156 |
| PMID:12507827 | PMID:12594855 | PMID:12645939 | PMID:12648225 | PMID:12648282 | PMID:12682044 | PMID:12687213 | PMID:12717621 | PMID:12729048 | PMID:12777379 | PMID:12777979 | PMID:12786997 |
| PMID:12786999 | PMID:12826376 | PMID:12911283 | PMID:12963978 | PMID:14558951 | PMID:14679198 | PMID:14749980 | PMID:15318034 | PMID:15336779 | PMID:15343265 | PMID:15385740 | PMID:15488952 |
| PMID:15489334 | PMID:15518576 | PMID:15548263 | PMID:15793001 | PMID:15887980 | PMID:16061226 | PMID:16174096 | PMID:16191421 | PMID:16210614 | PMID:16215317 | PMID:16216677 | PMID:16356928 |
| PMID:16395595 | PMID:16634865 | PMID:16690408 | PMID:16721835 | PMID:16828748 | PMID:16886895 | PMID:16923719 | PMID:17055437 | PMID:17068338 | PMID:17245734 | PMID:17491658 | PMID:17525827 |
| PMID:17703412 | PMID:17947644 | PMID:17982230 | PMID:18029348 | PMID:18309376 | PMID:18385764 | PMID:18433405 | PMID:18650831 | PMID:18694960 | PMID:18764808 | PMID:18802093 | PMID:18976687 |
| PMID:19116923 | PMID:19148137 | PMID:19188174 | PMID:19201886 | PMID:19202550 | PMID:19217216 | PMID:19258923 | PMID:19263211 | PMID:19297616 | PMID:19343046 | PMID:19387463 | PMID:19404951 |
| PMID:19549407 | PMID:19609238 | PMID:19851445 | PMID:19913121 | PMID:19946888 | PMID:20083708 | PMID:20193774 | PMID:20204276 | PMID:20439763 | PMID:20453000 | PMID:20470844 | PMID:20503287 |
| PMID:20525414 | PMID:20587610 | PMID:20628086 | PMID:21399633 | PMID:21440064 | PMID:21832049 | PMID:21843574 | PMID:21873635 | PMID:21988832 | PMID:22065046 | PMID:22638925 | PMID:22810586 |
| PMID:22911334 | PMID:22989262 | PMID:23028341 | PMID:23182705 | PMID:23189151 | PMID:23302073 | PMID:23349640 | PMID:23449627 | PMID:24175803 | PMID:24196954 | PMID:24288424 | PMID:24501197 |
| PMID:24923865 | PMID:24972609 | PMID:25377891 | PMID:25656091 | PMID:25846714 | PMID:25874709 | PMID:26496610 | PMID:26519531 | PMID:26618866 | PMID:26638075 | PMID:26760575 | PMID:26789246 |
| PMID:26799285 | PMID:26996113 | PMID:27098790 | PMID:27325005 | PMID:27375898 | PMID:27447835 | PMID:27745831 | PMID:28405734 | PMID:28514442 | PMID:28986522 | PMID:29039469 | PMID:29091951 |
| PMID:29180619 | PMID:29205500 | PMID:29879547 | PMID:30082158 | PMID:30833792 | PMID:31074096 | PMID:31091453 | PMID:31732831 | PMID:32008813 | PMID:32393512 | PMID:32513696 | PMID:33736739 |
| PMID:33961781 | PMID:34048709 | PMID:34050605 | PMID:34373132 | PMID:34591612 | PMID:34709727 | PMID:34973498 | PMID:35256949 | PMID:35271311 | PMID:35485366 | PMID:35696571 | PMID:35961308 |
| PMID:36136978 | PMID:36215168 | PMID:36227411 | PMID:36880596 | PMID:37523193 |
Genomics
Comparative Map Data
| TAP2 (Homo sapiens - human) |
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| Tap2 (Mus musculus - house mouse) |
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| Tap2 (Rattus norvegicus - Norway rat) |
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| Tap2 (Chinchilla lanigera - long-tailed chinchilla) |
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| TAP2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| TAP2 (Canis lupus familiaris - dog) |
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| Tap2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| TAP2 (Sus scrofa - pig) |
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| TAP2 (Chlorocebus sabaeus - green monkey) |
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| Tap2 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in TAP2
411 total Variants 
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