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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ataxia telangiectasia
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Accession:DOID:12704 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)
Synonyms:exact_synonym: AT;   AT1;   Boder-Sedgwick syndrome;   Louis Bar syndrome;   ataxia telangiectasia syndrome;   cerebello-oculocutaneous telangiectasia
 narrow_synonym: AT, COMPLEMENTATION GROUP C;   AT, COMPLEMENTATION GROUP D;   AT, COMPLEMENTATION GROUP E;   ATA;   ATAXIA-TELANGIECTASIA VARIANT;   ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY;   ATC;   ATD;   ATE;   LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A
 primary_id: MESH:D001260
 alt_id: OMIM:208900
 xref: EFO:0004924;   GARD:5862;   MONDO:0008840;   NCI:C2887
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,969,185...100,990,296
Ensembl chr11:104,452,913...104,474,063 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787 		JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C ClinVar PMID:25741868 PMID:27884168 PMID:28492532 NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179 		JBrowse link
G ALKBH8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,390,687...102,456,357
Ensembl chr11:105,872,588...105,937,472 		JBrowse link
G AMOTL1 angiomotin like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,743,625...89,890,334
Ensembl chr11:93,278,464...93,413,197 		JBrowse link
G ANGPTL5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,841,228...96,866,390
Ensembl chr11:100,340,375...100,356,947 		JBrowse link
G ANKRD49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,500,796...89,506,436
Ensembl chr11:92,986,224...92,991,713 		JBrowse link
G ARHGAP20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,457,931...105,593,644
Ensembl chr11:109,289,419...109,437,294 		JBrowse link
G ARHGAP42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,655,874...95,962,003
Ensembl chr11:99,159,634...99,460,060 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome		 ClinVar
OMIM		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468 		JBrowse link
G BIK BCL2 interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr22:23,994,256...24,014,244
Ensembl chr22:42,207,149...42,213,022 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589 		JBrowse link
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
G C9H11orf87 chromosome 9 C11orf87 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,308,303...104,315,320
Ensembl chr11:107,776,999...107,777,592 		JBrowse link
G CARD16 caspase recruitment domain family member 16 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,981,854...99,985,839
Ensembl chr11:103,467,368...103,468,288 		JBrowse link
G CASP1 caspase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149 		JBrowse link
G CASP4 caspase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,883,353...99,909,185
Ensembl chr11:103,366,138...103,391,824 		JBrowse link
G CASP5 caspase 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:99,931,066...99,963,652 JBrowse link
G CCDC82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:91,359,827...91,397,027
Ensembl chr11:94,884,856...94,921,339 		JBrowse link
G CEP126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,864,691...96,950,338
Ensembl chr11:100,363,259...100,447,121 		JBrowse link
G CEP57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,795,277...90,838,166 JBrowse link
G CFAP300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,997,736...97,034,422
Ensembl chr11:100,495,360...100,530,638 		JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652 		JBrowse link
G CNTN5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:94,012,914...95,340,930
Ensembl chr11:98,062,341...98,848,900 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272 		JBrowse link
G CUL5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,895,611...102,994,447
Ensembl chr11:106,371,759...106,469,989 		JBrowse link
G CWC15 CWC15 spliceosome associated protein homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,977,104...89,987,495
Ensembl chr11:93,499,406...93,509,827 		JBrowse link
G CWF19L2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,219,339...102,345,865
Ensembl chr11:105,702,934...105,828,149 		JBrowse link
G DCUN1D5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,996,643...98,038,108
Ensembl chr11:101,493,113...101,522,920 		JBrowse link
G DDI1 DNA damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:98,981,511...98,983,500
Ensembl chr11:102,466,220...102,467,398 		JBrowse link
G DDX10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,549,629...103,826,262
Ensembl chr11:107,018,798...107,293,248 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194 		JBrowse link
G ELMOD1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,481,649...102,557,478
Ensembl chr11:105,989,544...106,034,696 		JBrowse link
G ENDOD1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,103,089...90,146,740
Ensembl chr11:93,626,201...93,669,384 		JBrowse link
G EXPH5 exophilin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,390,256...103,478,587
Ensembl chr11:106,863,716...106,947,586 		JBrowse link
G FAM76B family with sequence similarity 76 member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,774,244...90,795,042
Ensembl chr11:94,301,937...94,322,788 		JBrowse link
G FDX1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,311,613...105,345,414 JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074 		JBrowse link
G FUT4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,550,637...89,566,111
Ensembl chr11:93,036,119...93,037,711 		JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,498,632...100,873,764
Ensembl chr11:103,983,862...104,355,280 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:101,565,279...101,910,136 JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054 		JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946 		JBrowse link
G HSPB2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G JRKL JRK like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:91,397,097...91,401,426
Ensembl chr11:94,922,218...94,923,792 		JBrowse link
G KBTBD3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,938,438...100,969,353
Ensembl chr11:104,426,554...104,453,162 		JBrowse link
G KDM4D lysine demethylase 4D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,987,537...90,013,421 JBrowse link
G KDM4E lysine demethylase 4E ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,039,540...90,041,341
Ensembl chr11:93,561,957...93,563,477 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935 		JBrowse link
G LOC100983381 protein NPAT ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr11:103,044,313...103,109,809
Ensembl chr11:106,519,614...106,584,034 		JBrowse link
G LOC100985633 caspase-1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,031,979...100,041,771
Ensembl chr11:103,522,260...103,524,354 		JBrowse link
G MAML2 mastermind like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,982,013...91,350,289
Ensembl chr11:94,511,873...94,873,977 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
G MMP10 matrix metallopeptidase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,710,819...97,721,263
Ensembl chr11:101,201,665...101,212,103 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679 		JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322 		JBrowse link
G MMP27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,630,268...97,644,959
Ensembl chr11:101,123,253...101,137,315 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
G MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:100,899,541...100,913,926
Ensembl chr11:104,383,412...104,397,702 		JBrowse link
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,839,577...90,929,731
Ensembl chr11:94,367,038...94,457,138 		JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338 		JBrowse link
G PDGFD platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273 		JBrowse link
G PGR progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:95,997,677...96,098,866 JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506 		JBrowse link
G PIWIL4 piwi like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:89,572,252...89,628,251
Ensembl chr11:93,097,709...93,150,981 		JBrowse link
G POGLUT3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:103,356,813...103,383,515
Ensembl chr11:106,827,056...106,853,166 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996 		JBrowse link
G POU2AF2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,125,675...106,165,907
Ensembl chr11:109,971,255...110,011,080 		JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908 		JBrowse link
G RAB39A RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,814,825...102,851,700
Ensembl chr11:106,291,348...106,326,587 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557 		JBrowse link
G SESN3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:90,184,571...90,249,825
Ensembl chr11:93,714,916...93,773,679 		JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543 		JBrowse link
G SLC35F2 solute carrier family 35 member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,681,791...102,750,821
Ensembl chr11:106,159,625...106,227,656 		JBrowse link
G SLN sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:102,598,123...102,602,917 JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980 		JBrowse link
G TMEM123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,342,669...97,399,342
Ensembl chr11:100,835,988...100,892,618 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr11:104,975,798...105,054,382
Ensembl chr11:108,859,581...108,899,858 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder ClinVar PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr17:42,686,483...42,773,668
Ensembl chr17:47,475,201...47,507,282 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762 		JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
ataxia-telangiectasia-like disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
ataxia-telangiectasia-like disorder-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar		 PMID:24911150 PMID:25741868 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    syndrome 10220
      Neurocutaneous Syndromes 358
        ataxia telangiectasia 101
          Ataxia Telangiectasia Like Disorder + 3
          Ataxia-Telangiectasia Variant 2
          Ataxia-Telangiectasia Variant V2 0
          Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
          ataxia with oculomotor apraxia type 3 1
          ataxia-oculomotor apraxia type 4 1
Path 2
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      nervous system disease 13350
        central nervous system disease 11956
          brain disease 11239
            movement disease 2505
              Dyskinesias 2139
                Ataxia 939
                  Spinocerebellar Ataxias 546
                    cerebellar ataxia 469
                      autosomal recessive cerebellar ataxia 162
                        ataxia telangiectasia 101
                          Ataxia Telangiectasia Like Disorder + 3
                          Ataxia-Telangiectasia Variant 2
                          Ataxia-Telangiectasia Variant V2 0
                          Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
                          ataxia with oculomotor apraxia type 3 1
                          ataxia-oculomotor apraxia type 4 1
paths to the root