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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:16p11.2 Deletion Syndrome
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Accession:DOID:9006640 term browser browse the term
Synonyms:exact_synonym: chromosome 16p11.2 deletion syndrome, 593-kb
 related_synonym: AUTS14A;   autism, susceptibility to, 14A
 primary_id: MESH:C579850
 alt_id: OMIM:611913
For additional species annotation, visit the Alliance of Genome Resources.


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16p11.2 Deletion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,379,060...198,382,982
Ensembl chr 1:198,379,022...198,382,614
JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,855,912...197,875,038 JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,120,104...198,121,158
Ensembl chr 1:198,120,099...198,121,158
JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,409,186...198,413,497
Ensembl chr 1:198,409,360...198,413,497
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,282,828...198,288,611
Ensembl chr 1:198,284,473...198,288,113
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,298,138...198,301,164
Ensembl chr 1:198,298,138...198,301,161
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,287,489...198,298,076
Ensembl chr 1:198,287,490...198,298,076
JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,360,627...198,378,935
Ensembl chr 1:198,360,627...198,378,934
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
JBrowse link
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
JBrowse link
G LOC308990 hypothetical protein LOC308990 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,528,569...198,531,585
Ensembl chr 1:198,528,635...198,531,201
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
G Nfatc2ip nuclear factor of activated T-cells 2 interacting protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,785,966...197,800,943
Ensembl chr 1:197,785,968...197,801,634
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,448,790...198,451,078
Ensembl chr 1:198,449,040...198,450,688
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,544,262...198,559,556
Ensembl chr 1:198,544,262...198,559,568
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
JBrowse link
G RGD1563217 similar to RIKEN cDNA 4930451I11 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,260,711...198,268,056
Ensembl chr 1:198,266,108...198,267,093
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,383,201...198,403,544
Ensembl chr 1:198,383,201...198,403,544
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
JBrowse link
G Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,114,514...198,120,061
Ensembl chr 1:198,112,245...198,120,061
JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
JBrowse link
G Spns1 sphingolipid transporter 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,771,196...197,778,506
Ensembl chr 1:197,771,108...197,778,490
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,301,789...198,354,601
Ensembl chr 1:198,301,938...198,320,075
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,252,208...198,265,840
Ensembl chr 1:198,259,496...198,265,839
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,322,276...198,360,552
Ensembl chr 1:198,324,857...198,354,466
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:32238909 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar NCBI chr 1:198,483,800...198,486,157
Ensembl chr 1:198,483,805...198,486,157
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      chromosomal deletion syndrome 875
        16p11.2 Deletion Syndrome 39
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                pervasive developmental disorder 1770
                  autism spectrum disorder 1765
                    autistic disorder 1608
                      16p11.2 Deletion Syndrome 39
paths to the root