Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 18q deletion syndrome
go back to main search page
Accession:DOID:0060407 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO)
Synonyms:exact_synonym: 18q syndrome;   chromosome 18, monosomy 18Q;   chromosome 18q syndrome;   deletion 18q;   monosomy 18q;   monosomy 18q syndrome;   monosomy 18q, deletion 18q
 primary_id: MESH:C536580
 alt_id: OMIM:601808
 xref: ORDO:1600
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
chromosome 18q deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP2 ADNP homeobox 2 JBrowse link 18 73,757,926 73,789,771 RGD:9068941
G ATP9B ATPase phospholipid transporting 9B (putative) JBrowse link 18 72,468,421 72,847,314 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 18 56,481,212 56,679,012 RGD:9068941
G C18H18orf63 chromosome 18 C18orf63 homolog JBrowse link 18 67,700,930 67,741,493 RGD:9068941
G CBLN2 cerebellin 2 precursor JBrowse link 18 65,906,154 66,010,195 RGD:9068941
G CCDC102B coiled-coil domain containing 102B JBrowse link 18 62,113,486 62,539,281 RGD:9068941
G CD226 CD226 molecule JBrowse link 18 63,238,477 63,379,346 RGD:9068941
G CDH19 cadherin 19 JBrowse link 18 59,852,350 59,954,744 RGD:9068941
G CDH20 cadherin 20 JBrowse link 18 54,706,558 54,928,744 RGD:9068941
G CDH7 cadherin 7 JBrowse link 18 59,104,931 59,244,999 RGD:9068941
G CNDP1 carnosine dipeptidase 1 JBrowse link 18 67,920,453 67,982,843 RGD:9068941
G CNDP2 carnosine dipeptidase 2 JBrowse link 18 67,882,189 67,907,094 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 18 73,279,510 73,357,718 RGD:9068941
G DIPK1C divergent protein kinase domain 1C JBrowse link 18 67,820,362 67,843,515 RGD:9068941
G DOK6 docking protein 6 JBrowse link 18 62,785,687 63,227,505 RGD:9068941
G DSEL dermatan sulfate epimerase like JBrowse link 18 60,880,241 60,890,372 RGD:9068941
G FBXO15 F-box protein 15 JBrowse link 18 67,455,924 67,529,959 RGD:9068941
G GALR1 galanin receptor 1 JBrowse link 18 70,643,718 70,664,068 RGD:9068941
G HMSD histocompatibility minor serpin domain containing JBrowse link 18 57,306,835 57,315,231 RGD:9068941
G HSBP1L1 heat shock factor binding protein 1 like 1 JBrowse link 18 73,608,483 73,615,823 RGD:9068941
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 73,431,735 73,546,602 RGD:9068941
G KDSR 3-ketodihydrosphingosine reductase JBrowse link 18 56,686,914 56,727,681 RGD:9068941
G LOC100968898 cytochrome b5 JBrowse link 18 67,638,406 67,677,111 RGD:9068941
G MBP myelin basic protein JBrowse link 18 70,369,882 70,526,693 RGD:9068941
G MC4R melanocortin 4 receptor JBrowse link 18 53,744,172 53,747,282 RGD:9068941
G NETO1 neuropilin and tolloid like 1 JBrowse link 18 66,114,425 66,240,141 RGD:9068941
G NFATC1 nuclear factor of activated T cells 1 JBrowse link 18 72,948,067 73,083,180 RGD:9068941
G PARD6G par-6 family cell polarity regulator gamma JBrowse link 18 73,806,710 73,904,494 RGD:9068941
G PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 JBrowse link 18 56,084,851 56,338,551 RGD:9068941
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 55,415,182 55,557,092 RGD:9068941
G RBFA ribosome binding factor A JBrowse link 18 73,679,972 73,696,321 RGD:9068941
G RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing JBrowse link 18 55,557,276 55,677,161 RGD:9068941
G RNF152 ring finger protein 152 JBrowse link 18 55,180,955 55,264,164 RGD:9068941
G RTTN rotatin JBrowse link 18 63,381,953 63,584,937 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 18 72,381,249 72,403,789 RGD:9068941
G SERPINB10 serpin family B member 10 JBrowse link 18 57,262,514 57,289,744 RGD:9068941
G SERPINB11 serpin family B member 11 JBrowse link 18 57,061,477 57,083,031 RGD:9068941
G SERPINB12 serpin family B member 12 JBrowse link 18 56,915,588 56,926,603 RGD:9068941
G SERPINB13 serpin family B member 13 JBrowse link 18 56,946,828 56,958,702 RGD:9068941
G SERPINB2 serpin family B member 2 JBrowse link 18 57,242,498 57,258,676 RGD:9068941
G SERPINB4 serpin family B member 4 JBrowse link 18 56,996,437 57,003,489 RGD:9068941
G SERPINB5 serpin family B member 5 JBrowse link 18 56,836,403 56,864,533 RGD:9068941
G SERPINB7 serpin family B member 7 JBrowse link 18 57,112,242 57,164,213 RGD:9068941
G SERPINB8 serpin family B member 8 JBrowse link 18 57,313,562 57,373,502 RGD:9068941
G SLC66A2 solute carrier family 66 member 2 JBrowse link 18 73,549,273 73,596,658 RGD:9068941
G SMIM21 small integral membrane protein 21 JBrowse link 18 68,795,702 68,815,275 RGD:9068941
G SOCS6 suppressor of cytokine signaling 6 JBrowse link 18 63,666,761 63,710,085 RGD:9068941
G TIMM21 translocase of inner mitochondrial membrane 21 JBrowse link 18 67,530,610 67,540,966 RGD:9068941
G TMX3 thioredoxin related transmembrane protein 3 JBrowse link 18 62,072,290 62,113,574 RGD:9068941
G TNFRSF11A TNF receptor superfamily member 11a JBrowse link 18 55,695,394 55,761,307 RGD:9068941
G TSHZ1 teashirt zinc finger homeobox 1 JBrowse link 18 68,597,354 68,676,462 RGD:9068941
G TXNL4A thioredoxin like 4A JBrowse link 18 73,618,302 73,679,603 RGD:9068941
G VPS4B vacuolar protein sorting 4 homolog B JBrowse link 18 56,749,439 56,782,660 RGD:9068941
G ZADH2 zinc binding alcohol dehydrogenase domain containing 2 JBrowse link 18 68,584,392 68,596,230 RGD:9068941
G ZCCHC2 zinc finger CCHC-type containing 2 JBrowse link 18 55,893,099 55,948,648 RGD:9068941
G ZNF236 zinc finger protein 236 JBrowse link 18 70,213,383 70,361,741 RGD:9068941
G ZNF407 zinc finger protein 407 JBrowse link 18 67,985,750 68,451,774 RGD:9068941
G ZNF516 zinc finger protein 516 JBrowse link 18 69,748,472 69,891,026 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12677
    syndrome 5569
      chromosomal deletion syndrome 735
        chromosome 18q deletion syndrome 58
Path 2
Term Annotations click to browse term
  disease 12677
    Pathological Conditions, Signs and Symptoms 7296
      Pathologic Processes 5393
        Chromosome Aberrations 1568
          Aneuploidy 861
            Monosomy 774
              Chromosome Deletion 774
                chromosomal deletion syndrome 735
                  chromosome 18q deletion syndrome 58
paths to the root

NHLBI Logo

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