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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:Potocki-Lupski syndrome
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Accession:DOID:0060853 term browser browse the term
Definition:A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. (DO)
Synonyms:exact_synonym: 17p11.2 microduplication syndrome;   PTLS;   Potocki-Lupski syndrome (dup(17)(p11.2p11.2));   chromosome 17, trisomy 17p11 2;   chromosome 17p11.2 duplication syndrome;   duplication 17p11 2;   duplication 17p11.2 syndrome;   trisomy 17p11.2
 xref: GARD:10145;   MESH:C538355;   MIM:610883;   MONDO:0012574;   NCI:C124846;   ORDO:1713


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Potocki-Lupski syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,545,371...46,608,730
Ensembl chr10:46,551,532...46,608,769 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019 		JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907 		JBrowse link
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2))		 CTD
ClinVar		 PMID:12204536 PMID:12471204 PMID:15852235 PMID:16199547 PMID:17496196 More... NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013 		JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849 		JBrowse link
G Rai1 retinoic acid induced 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Potocki-Lupski syndrome
OMIM:610883		 CTD
ClinVar
MouseDO		 PMID:17517686 PMID:28837307 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637 		JBrowse link
G Slc47a2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,990,806...46,033,937
Ensembl chr10:45,991,095...46,033,904 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876 		JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,638,947...46,912,989
Ensembl chr10:46,638,809...46,912,802 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203 		JBrowse link
G Ulk2 unc-51 like autophagy activating kinase 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,451,578...46,530,462
Ensembl chr10:46,454,030...46,530,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      chromosomal duplication syndrome 1287
        Trisomy 370
          Potocki-Lupski syndrome 42
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          chromosomal disease 3048
            chromosomal duplication syndrome 1287
              Trisomy 370
                Potocki-Lupski syndrome 42
paths to the root