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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:chromosome 15q11.2 deletion syndrome
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Accession:DOID:0060393 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)
Synonyms:exact_synonym: 15q11.2 microdeletion;   15q11.2 microdeletion syndrome;   chromosome 15q11-q13 duplication syndrome;   duplication 15q11-q13 syndrome
 primary_id: MESH:C557830
 alt_id: OMIM:615656
 xref: ORDO:261183


show annotations for term's descendants           Sort by:
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apba2 amyloid beta precursor protein binding family A member 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:118,053,270...118,286,858
Ensembl chr 1:118,103,219...118,285,699 		JBrowse link
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
G Ccdc92b coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:59,479,798...59,501,486
Ensembl chr10:59,479,743...59,501,495 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Cluh clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Entrep2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:118,288,365...118,700,514
Ensembl chr 1:118,288,379...118,700,671 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G LOC120100287 small nucleolar RNA SNORD115 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:110,313,740...110,313,816
Ensembl chr 1:110,313,740...110,313,816 		JBrowse link
G LOC120100291 small nucleolar RNA SNORD115 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:110,322,055...110,322,131
Ensembl chr 1:110,322,055...110,322,131 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:115,926,774...115,929,288
Ensembl chr 1:115,926,776...115,929,283 		JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:115,849,168...115,850,767
Ensembl chr 1:115,849,105...115,850,767 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126 		JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:118,401,302...118,402,629 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G Rap1gap2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:59,255,400...59,472,536
Ensembl chr10:59,255,278...59,472,170 		JBrowse link
G Snord107 small nucleolar RNA, C/D box 107 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:111,099,306...111,099,377
Ensembl chr 1:111,099,306...111,099,377 		JBrowse link
G Snord64 small nucleolar RNA, C/D box 64 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:111,094,909...111,094,975
Ensembl chr 1:111,094,909...111,094,975 		JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:111,101,327...111,123,400
Ensembl chr 1:111,101,329...111,123,634 		JBrowse link
G Snurf SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:111,101,327...111,123,634
Ensembl chr 1:111,101,329...111,123,634 		JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432 		JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175 		JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      chromosomal deletion syndrome 1493
        chromosome 15q11.2 deletion syndrome 31
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    chromosome 15q11.2 deletion syndrome 31
paths to the root