ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 1q21.1 deletion syndrome
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Accession:DOID:0060411 term browser browse the term
Synonyms:exact_synonym: 1q21.1 Contiguous Gene Deletion;   1q21.1 Deletion;   1q21.1 Microdeletion;   1q21.1 microdeletion syndrome;   Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
 related_synonym: monosomy 1q21.1
 primary_id: MESH:C567291
 alt_id: OMIM:612474;   RDO:0015407
 xref: GARD:10813;   ORDO:250989
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chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Bcl9 BCL9, transcription coactivator JBrowse link 2 199,334,644 199,420,083 RGD:8554872
G Chd1l chromodomain helicase DNA binding protein 1-like JBrowse link 2 199,714,044 199,792,270 RGD:8554872
G Fmo5 flavin containing monooxygenase 5 JBrowse link 2 199,796,870 199,823,927 RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
RGD:11554173
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:8554872
RGD:11554173
G Gpr89b G protein-coupled receptor 89B JBrowse link 2 198,999,945 199,038,702 RGD:8554872
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 JBrowse link 2 199,831,990 199,847,623 RGD:8554872

Term paths to the root
Path 1
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  disease 14823
    syndrome 4218
      chromosomal deletion syndrome 325
        chromosome 1q21.1 deletion syndrome 8
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                Macrocephaly 58
                  chromosome 1q21.1 deletion syndrome 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.