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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:Angelman syndrome
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Accession:DOID:1932 term browser browse the term
Definition:A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. (DO)
Synonyms:exact_synonym: AS;   happy puppet syndrome;   puppet children;   puppetlike syndrome
 narrow_synonym: ANCR;   ANGELMAN SYNDROME CHROMOSOME REGION
 primary_id: MESH:D017204
 alt_id: MESH:C531619;   OMIM:105830
 xref: EFO:0004131;   GARD:5810;   ICD10CM:Q93.51;   MONDO:0007113;   NCI:C75462;   ORDO:72
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Angelman syndrome term browser
Symbol Object Name Qualifiers 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: Angelman 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: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 More... NCBI chr 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angelman syndrome		 CTD
ClinVar		 PMID:19241098 PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar 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: Angelman 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: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angelman syndrome		 CTD
ClinVar		 PMID:15878204 PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 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: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 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: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 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: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 More... 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: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 More... 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: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME ClinVar PMID:1191367 PMID:2323808 PMID:4413922 PMID:8177735 PMID:10508514 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 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: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 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: Angelman 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: Angelman 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: Angelman 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: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Rnf4 ring finger protein 4 ISO mRNA:increased expression:blood (human) RGD PMID:15014980 RGD:9831454 NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566 		JBrowse link
G Snord107 small nucleolar RNA, C/D box 107 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 More... 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: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 More... 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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:105830
ClinVar Annotator: match by term: Angelman syndrome		 CTD
MouseDO
ClinVar		 PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 More... 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: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 More... 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: Angelman syndrome ClinVar NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432 		JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:10330339 PMID:21990111 PMID:25741868 PMID:28492532 PMID:30792901 NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129 		JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Angelman 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 treatment ISO
IMP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:105830
ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:2309781 PMID:8988171 PMID:8988172 PMID:9536098 PMID:9585605 More... RGD:1358469, RGD:12859273, RGD:12859274, RGD:126790466 NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250 		JBrowse link
G Ube3aem1Jue ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue IMP RGD PMID:32066685 RGD:126790466
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Angelman syndrome 30
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Angelman syndrome 30
paths to the root