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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 duplication of a region of chromosome 17p11.2. (DO)
Synonyms:exact_synonym: 17p11.2 microduplication syndrome;   Duplication 17p11 2;   PTLS;   Potocki-Lupski syndrome (dup(17)(p11.2p11.2));   chromosome 17, trisomy 17p11 2;   chromosome 17p11.2 duplication syndrome;   duplication 17p11.2 syndrome;   trisomy 17p11.2
 primary_id: MESH:C538355
 alt_id: DOID:9007595;   OMIM:610883;   RDO:0002203;   RDO:0004324
 xref: GARD:10145;   ORDO:1713
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Potocki-Lupski syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap10 A-kinase anchoring protein 10 JBrowse link 10 48,150,902 48,210,074 RGD:8554872
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 JBrowse link 10 47,490,168 47,499,855 RGD:8554872
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 JBrowse link 10 47,525,486 47,546,535 RGD:8554872
G Alkbh5 alkB homolog 5, RNA demethylase JBrowse link 10 46,906,314 46,927,759 RGD:8554872
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 JBrowse link 10 46,768,539 46,783,889 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G Cops3 COP9 signalosome subunit 3 JBrowse link 10 46,182,680 46,206,083 RGD:8554872
G Drc3 dynein regulatory complex subunit 3 JBrowse link 10 46,712,021 46,762,276 RGD:8554872
G Drg2 developmentally regulated GTP binding protein 2 JBrowse link 10 46,818,412 46,831,308 RGD:8554872
G Epn2 epsin 2 JBrowse link 10 47,795,496 47,857,373 RGD:8554872
G Fam83g family with sequence similarity 83, member G JBrowse link 10 47,960,735 47,984,083 RGD:8554872
G Fbxw10 F-box and WD repeat domain containing 10 JBrowse link 10 49,259,050 49,296,714 RGD:8554872
G Flcn folliculin JBrowse link 10 46,153,185 46,172,331 RGD:11554173
RGD:8554872
G Flii FLII, actin remodeling protein JBrowse link 10 46,955,460 46,969,468 RGD:8554872
G Gid4 GID complex subunit 4 JBrowse link 10 46,784,124 46,810,517 RGD:8554872
G Grap GRB2-related adaptor protein JBrowse link 10 47,930,633 47,949,774 RGD:8554872
G Llgl1 LLGL scribble cell polarity complex component 1 JBrowse link 10 46,940,873 46,955,524 RGD:8554872
G Mapk7 mitogen-activated protein kinase 7 JBrowse link 10 47,768,592 47,775,130 RGD:8554872
G Med9 mediator complex subunit 9 JBrowse link 10 46,314,639 46,329,374 RGD:8554872
G Mfap4 microfibril associated protein 4 JBrowse link 10 47,765,463 47,768,484 RGD:8554872
G Mief2 mitochondrial elongation factor 2 JBrowse link 10 46,969,531 46,975,572 RGD:8554872
G Mprip myosin phosphatase Rho interacting protein JBrowse link 10 46,018,397 46,133,580 RGD:8554872
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
G Nt5m 5',3'-nucleotidase, mitochondrial JBrowse link 10 46,216,494 46,244,478 RGD:8554872
G Pemt phosphatidylethanolamine N-methyltransferase JBrowse link 10 46,339,821 46,404,640 RGD:8554872
G Pld6 phospholipase D family, member 6 JBrowse link 10 46,142,313 46,145,774 RGD:8554872
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 JBrowse link 10 48,008,799 48,044,435 RGD:8554872
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:11554173
RGD:8554872
G Rasd1 ras related dexamethasone induced 1 JBrowse link 10 46,330,361 46,339,326 RGD:8554872
G Rnf112 ring finger protein 112 JBrowse link 10 47,719,034 47,726,050 RGD:8554872
G Shmt1 serine hydroxymethyltransferase 1 JBrowse link 10 47,030,813 47,059,216 RGD:8554872
G Slc47a1 solute carrier family 47 member 1 JBrowse link 10 47,631,425 47,685,379 RGD:8554872
G Slc47a2 solute carrier family 47 member 2 JBrowse link 10 47,587,909 47,631,373 RGD:8554872
G Slc5a10 solute carrier family 5 member 10 JBrowse link 10 47,949,775 47,997,802 RGD:8554872
G Smcr8 SMCR8-C9orf72 complex subunit JBrowse link 10 47,019,326 47,026,465 RGD:8554872
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 JBrowse link 10 48,240,291 48,542,171 RGD:8554872
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link 10 46,570,996 46,593,021 RGD:8554872
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:8554872
G Tom1l2 target of myb1 like 2 membrane trafficking protein JBrowse link 10 46,599,392 46,720,921 RGD:8554872
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
G Tvp23b trans-golgi network vesicle protein 23 homolog B JBrowse link 10 49,299,125 49,312,814 RGD:8554872
G Ulk2 unc-51 like autophagy activating kinase 2 JBrowse link 10 48,050,079 48,129,377 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      chromosomal duplication syndrome 51
        Potocki-Lupski syndrome 42
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          chromosomal disease 601
            chromosomal duplication syndrome 51
              Trisomy 44
                Potocki-Lupski syndrome 42
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.