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ONTOLOGY REPORT - ANNOTATIONS


Term:16Q24.3 Microdeletion Syndrome
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Accession:DOID:9003864 term browser browse the term
Definition:A syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. (Orphanet)
Synonyms:primary_id: RDO:9001300
 alt_id: ORPHA:261250
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16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACSF3 acyl-CoA synthetase family member 3 JBrowse link 6 663,201 708,800 RGD:9068941
G ANKRD11 ankyrin repeat domain 11 JBrowse link 6 455,856 612,878 RGD:9068941
G APRT adenine phosphoribosyltransferase JBrowse link 6 890,272 893,278 RGD:9068941
G BANP BTG3 associated nuclear protein JBrowse link 6 1,421,460 1,495,484 RGD:9068941
G C6H16orf95 chromosome 6 C16orf95 homolog JBrowse link 6 1,996,457 2,013,709 RGD:9068941
G CA5A carbonic anhydrase 5A JBrowse link 6 1,495,615 1,539,390 RGD:9068941
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 JBrowse link 6 779,164 854,449 RGD:9068941
G CDH15 cadherin 15 JBrowse link 6 636,350 652,260 RGD:9068941
G CDT1 chromatin licensing and DNA replication factor 1 JBrowse link 6 893,377 897,706 RGD:9068941
G CPNE7 copine 7 JBrowse link 6 393,756 410,781 RGD:9068941
G CTU2 cytosolic thiouridylase subunit 2 JBrowse link 6 964,551 976,881 RGD:9068941
G CYBA cytochrome b-245 alpha chain JBrowse link 6 1,015,212 1,021,422 RGD:9068941
G FBXO31 F-box protein 31 JBrowse link 6 1,949,254 1,995,459 RGD:9068941
G GALNS galactosamine (N-acetyl)-6-sulfatase JBrowse link 6 869,284 890,137 RGD:9068941
G IL17C interleukin 17C JBrowse link 6 1,023,330 1,025,173 RGD:9068941
G JPH3 junctophilin 3 JBrowse link 6 1,677,132 1,767,010 RGD:9068941
G KLHDC4 kelch domain containing 4 JBrowse link 6 1,627,054 1,672,328 RGD:9068941
G MAP1LC3B microtubule associated protein 1 light chain 3 beta JBrowse link 6 1,919,879 1,941,069 RGD:9068941
G MVD mevalonate diphosphate decarboxylase JBrowse link 6 1,008,100 1,014,303 RGD:9068941
G PABPN1L PABPN1 like, cytoplasmic JBrowse link 6 854,605 861,969 RGD:9068941
G PIEZO1 piezo type mechanosensitive ion channel component 1 JBrowse link 6 914,480 967,113 RGD:9068941
G RNF166 ring finger protein 166 JBrowse link 6 976,957 982,997 RGD:9068941
G RPL13 ribosomal protein L13 JBrowse link 6 410,923 413,396 RGD:9068941
G SLC7A5 solute carrier family 7 member 5 JBrowse link 6 1,545,940 1,574,298 RGD:9068941
G SNAI3 snail family transcriptional repressor 3 JBrowse link 6 988,975 996,268 RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 6 414,930 439,206 RGD:9068941
G TRAPPC2L trafficking protein particle complex 2 like JBrowse link 6 865,498 869,253 RGD:9068941
G ZC3H18 zinc finger CCCH-type containing 18 JBrowse link 6 1,030,416 1,081,541 RGD:9068941
G ZCCHC14 zinc finger CCHC-type containing 14 JBrowse link 6 1,849,974 1,917,601 RGD:9068941
G ZFPM1 zinc finger protein, FOG family member 1 JBrowse link 6 1,091,158 1,153,972 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 6 1,161,514 1,208,406 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12552
    syndrome 5521
      16Q24.3 Microdeletion Syndrome 31
Path 2
Term Annotations click to browse term
  disease 12552
    Pathological Conditions, Signs and Symptoms 7294
      Pathologic Processes 5414
        Chromosome Aberrations 1541
          Aneuploidy 857
            Monosomy 765
              Chromosome Deletion 765
                16Q24.3 Microdeletion Syndrome 31
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.