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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 22q11.2 deletion syndrome, distal
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Accession:DOID:0060413 term browser browse the term
Synonyms:exact_synonym: distal 22q11.2 microdeletion syndrome
 primary_id: MESH:C567511
 alt_id: OMIM:611867;   RDO:0015571
 xref: ORDO:261330
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chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc116 coiled-coil domain containing 116 JBrowse link 11 88,092,794 88,100,220 RGD:8554872
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:8554872
G Mir130b microRNA 130b JBrowse link 11 88,129,773 88,129,854 RGD:8554872
G Ppil2 peptidylprolyl isomerase like 2 JBrowse link 11 88,147,342 88,169,968 RGD:8554872
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F JBrowse link 11 88,313,709 88,343,726 RGD:8554872
G Prame preferentially expressed antigen in melanoma JBrowse link X 106,082,984 106,091,256 RGD:8554872
G Rimbp3 RIMS binding protein 3 JBrowse link 11 88,033,213 88,039,002 RGD:8554872
G Sdf2l1 stromal cell-derived factor 2-like 1 JBrowse link 11 88,122,271 88,124,513 RGD:8554872
G Tmem191c transmembrane protein 191C JBrowse link 11 87,975,508 87,982,861 RGD:8554872
G Top3b DNA topoisomerase III beta JBrowse link 11 88,346,305 88,374,896 RGD:8554872
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 JBrowse link 11 88,047,186 88,088,477 RGD:8554872
G Vpreb1 V-set pre-B cell surrogate light chain 1 JBrowse link 11 88,376,256 88,377,133 RGD:8554872
G Ydjc YdjC chitooligosaccharide deacetylase homolog JBrowse link 11 88,089,142 88,094,254 RGD:8554872
G Ypel1 yippee-like 1 JBrowse link 11 88,171,401 88,186,000 RGD:8554872
G Zfp280b zinc finger protein 280B JBrowse link 20 13,566,381 13,581,215 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      chromosomal deletion syndrome 507
        chromosome 22q11.2 deletion syndrome, distal 15
Path 2
Term Annotations click to browse term
  disease 15502
    Pathological Conditions, Signs and Symptoms 8034
      Pathologic Processes 5202
        Chromosome Aberrations 752
          Aneuploidy 655
            Monosomy 560
              Chromosome Deletion 560
                chromosomal deletion syndrome 507
                  22q11 Deletion Syndrome 56
                    DiGeorge syndrome 52
                      chromosome 22q11.2 deletion syndrome, distal 15
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.