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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 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 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
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...59,501,482 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 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
JBrowse link
G Fam189a1 family with sequence similarity 189, member A1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar 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 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 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 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 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:115,880,137...115,884,680
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 NCBI chr 1:115,926,774...115,929,286
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 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 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 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 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 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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 chr10:59,255,278...59,472,536
Ensembl chr10:59,255,278...59,472,170
JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:111,101,327...111,123,400 JBrowse link
G Snurf SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 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 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 associated protein 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar 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 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 17289
    syndrome 8166
      chromosomal deletion syndrome 1005
        chromosome 15q11.2 deletion syndrome 25
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    chromosome 15q11.2 deletion syndrome 25
paths to the root