ONTOLOGY REPORT - ANNOTATIONS


Term:Ataxia-Telangiectasia-Like Disorder 1
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Accession:DOID:9007720 term browser browse the term
Synonyms:exact_synonym: ATLD1
 primary_id: OMIM:604391
 alt_id: RDO:0008939
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Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:7240710
RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      Neurocutaneous Syndromes 65
        ataxia telangiectasia 22
          Ataxia Telangiectasia Like Disorder 9
            Ataxia-Telangiectasia-Like Disorder 1 8
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            movement disease 1006
              Dyskinesias 718
                Ataxia 308
                  hereditary ataxia 194
                    cerebellar ataxia 178
                      autosomal recessive cerebellar ataxia 69
                        ataxia telangiectasia 22
                          Ataxia Telangiectasia Like Disorder 9
                            Ataxia-Telangiectasia-Like Disorder 1 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.