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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;   MIM: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 7:64,151,444...64,403,620
Ensembl chr 7:64,151,454...64,403,626 		JBrowse link
G Atp10a ATPase, class V, type 10A ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 More... NCBI chr 7:58,305,896...58,479,783
Ensembl chr 7:58,305,914...58,479,168 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19241098 NCBI chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 7:55,491,556...55,582,381
Ensembl chr 7:55,491,493...55,582,350 		JBrowse link
G Entrep2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 7:64,405,839...64,806,276
Ensembl chr 7:64,405,839...64,806,318 		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 7:57,057,417...57,240,808
Ensembl chr 7:57,057,420...57,159,807 		JBrowse link
G Gabrb3 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 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		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 7:56,366,211...57,037,173
Ensembl chr 7:56,366,213...57,036,936 		JBrowse link
G Gm22046 predicted gene, 22046 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 More... NCBI chr 7:59,398,704...59,398,797
Ensembl chr 7:59,398,704...59,398,797 		JBrowse link
G Gm22496 predicted gene, 22496 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 More... NCBI chr 7:58,997,085...58,997,172
Ensembl chr 7:58,997,085...58,997,172 		JBrowse link
G Gm23471 predicted gene, 23471 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 More... NCBI chr 7:59,084,025...59,084,103
Ensembl chr 7:59,084,025...59,084,103 		JBrowse link
G Gm26504 predicted gene, 26504 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 More... NCBI chr 7:59,325,738...59,325,827
Ensembl chr 7:59,325,736...59,325,829 		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 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548 		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 7:62,026,727...62,031,388
Ensembl chr 7:62,026,758...62,031,388 		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:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		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 7:62,067,341...62,069,901
Ensembl chr 7:62,067,341...62,069,887 		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 7:61,998,025...61,999,676
Ensembl chr 7:61,996,317...62,000,010 		JBrowse link
G Nipa1 non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 7:55,628,232...55,669,348
Ensembl chr 7:55,627,315...55,669,702 		JBrowse link
G Nipa2 non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 7:55,581,014...55,612,241
Ensembl chr 7:55,581,035...55,612,224 		JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 7:64,521,430...64,522,788
Ensembl chr 7:64,516,800...64,522,745 		JBrowse link
G Oca2 oculocutaneous albinism II ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041 PMID:25741868 PMID:26633545 PMID:38177409 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Rnf4 ring finger protein 4 ISO mRNA:increased expression:blood (human) RGD PMID:15014980 RGD:9831454 NCBI chr 5:34,493,594...34,510,789
Ensembl chr 5:34,493,633...34,512,973 		JBrowse link
G Snhg14 small nucleolar RNA host gene 14 ISO ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME ClinVar PMID:2309781 PMID:8988171 PMID:8988172 PMID:9536098 PMID:9585605 More... NCBI chr 7:58,922,485...60,099,925 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 7:59,630,624...59,630,693
Ensembl chr 7:59,630,624...59,630,693 		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 7:59,628,559...59,628,604
Ensembl chr 7:59,628,556...59,628,622 		JBrowse link
G Snrpn small nuclear ribonucleoprotein N IAGP
ISO		 OMIM:105830
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angelman syndrome		 MouseDO
CTD
ClinVar		 PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 More... NCBI chr 7:59,632,243...60,099,925
Ensembl chr 7:59,632,243...59,789,967 		JBrowse link
G Snurf SNRPN upstream reading frame ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318 PMID:18821858 PMID:22190369 PMID:23495136 PMID:24088041 More... NCBI chr 7:59,632,243...59,654,947
Ensembl chr 7:59,623,897...59,654,812
Ensembl chr 7:59,623,897...59,654,812 		JBrowse link
G Tjp1 tight junction protein 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529 		JBrowse link
G Tpp1 tripeptidyl peptidase I ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:10330339 PMID:21990111 PMID:25741868 PMID:28492532 PMID:30792901 NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442 		JBrowse link
G Tubgcp5 tubulin, gamma complex component 5 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 7:55,443,873...55,481,207
Ensembl chr 7:55,443,902...55,481,425 		JBrowse link
G Ube3a ubiquitin protein ligase E3A treatment ISO
IMP
IDA
IAGP		 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 7:58,871,891...58,960,585
Ensembl chr 7:58,878,498...58,961,284 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16260
    syndrome 10873
      Angelman syndrome 31
Path 2
Term Annotations click to browse term
  disease 16260
    disease of anatomical entity 15853
      nervous system disease 13790
        central nervous system disease 12307
          brain disease 11550
            movement disease 2612
              Angelman syndrome 31
paths to the root