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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 chr17:31,150,628...31,226,569
Ensembl chr17:36,297,164...36,372,087 		JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,455,386...31,482,985
Ensembl chr17:36,599,835...36,628,102 		JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,725,632...32,753,021
Ensembl chr17:38,003,362...38,030,715 		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 chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911 		JBrowse link
G B9D1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391 		JBrowse link
G COPS3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:34,013,180...34,047,546
Ensembl chr17:38,944,618...38,978,235 		JBrowse link
G DRC3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,278,528...33,324,351
Ensembl chr17:38,226,305...38,272,013 		JBrowse link
G EPN2 epsin 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,777,430...31,874,469
Ensembl chr17:36,942,381...37,038,509 		JBrowse link
G FAM83G family with sequence similarity 83 member G ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,237,065...32,273,015
Ensembl chr17:37,169,509...37,204,872 		JBrowse link
G FBXW10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307
G FLCN folliculin ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) ClinVar PMID:12204536 PMID:12471204 PMID:15852235 PMID:17496196 PMID:18234728 More... NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160 		JBrowse link
G FLII FLII actin remodeling protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,789,717...32,803,661
Ensembl chr17:37,949,994...37,965,414 		JBrowse link
G GID4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,226,374...33,256,146 JBrowse link
G GRAP GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,215,214...32,219,802 JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,770,511...32,789,756
Ensembl chr17:37,966,100...37,985,103 		JBrowse link
G LOC100971960 unconventional myosin-XV ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,661,499...32,723,320 JBrowse link
G LOC100994060 developmentally-regulated GTP-binding protein 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,187,571...33,206,833 JBrowse link
G MAPK7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,729,429...31,736,216
Ensembl chr17:36,894,146...36,899,969 		JBrowse link
G MED9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,802,916...33,819,107
Ensembl chr17:38,749,397...38,765,618 		JBrowse link
G MFAP4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,725,732...31,729,528
Ensembl chr17:36,890,778...36,893,230 		JBrowse link
G MIEF2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,805,453...32,810,668
Ensembl chr17:37,944,215...37,949,451 		JBrowse link
G MPRIP myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:34,101,451...34,251,475
Ensembl chr17:39,040,719...39,182,578 		JBrowse link
G NT5M 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,948,270...33,991,485 JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,703,800...33,790,470
Ensembl chr17:38,651,024...38,737,202 		JBrowse link
G PLD6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:34,084,634...34,091,470
Ensembl chr17:39,016,859...39,023,398 		JBrowse link
G PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,316,289...32,392,531
Ensembl chr17:37,247,504...37,320,704 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861 		JBrowse link
G RASD1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,799,204...33,801,652
Ensembl chr17:38,744,157...38,748,134 		JBrowse link
G RNF112 ring finger protein 112 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,688,381...31,701,675
Ensembl chr17:36,860,202...36,894,877 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220 		JBrowse link
G SLC47A1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,532,821...31,577,523
Ensembl chr17:36,695,965...36,741,618 		JBrowse link
G SLC47A2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,412,990...31,454,667
Ensembl chr17:36,560,881...36,599,133 		JBrowse link
G SLC5A10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,219,877...32,289,598
Ensembl chr17:37,152,047...37,221,554 		JBrowse link
G SMCR8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,858,205...32,871,132
Ensembl chr17:37,884,037...37,896,972 		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 chr17:30,800,973...31,114,322
Ensembl chr17:35,951,060...36,253,178 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		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 chr17:33,324,590...33,451,688
Ensembl chr17:38,272,362...38,399,178 		JBrowse link
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135 		JBrowse link
G TVP23B trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307
G ULK2 unc-51 like autophagy activating kinase 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr17:31,262,168...31,362,251
Ensembl chr17:36,409,312...36,507,786 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    syndrome 10733
      chromosomal duplication syndrome 1316
        Trisomy 365
          Potocki-Lupski syndrome 42
Path 2
Term Annotations click to browse term
  disease 15838
    Developmental Disease 13862
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          chromosomal disease 3206
            chromosomal duplication syndrome 1316
              Trisomy 365
                Potocki-Lupski syndrome 42
paths to the root