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ONTOLOGY REPORT - ANNOTATIONS


Term:Kleefstra syndrome 1
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Accession:DOID:0060352 term browser browse the term
Definition:A syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO)
Synonyms:exact_synonym: 9q Subtelomeric Deletion Syndrome;   9q- Syndrome;   9q34 deletion syndrome;   9q34.3 Microdeletion Syndrome;   9q34.3 deletion syndrome;   chromosome 9Q deletion syndrome;   chromosome 9q34.3 deletion syndrome
 primary_id: MESH:C563043
 alt_id: DOID:0070075;   DOID:9001500;   OMIM:610253
 xref: GARD:8672;   ORDO:261494
For additional species annotation, visit the Alliance of Genome Resources.


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Kleefstra syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca2 ATP binding cassette subfamily A member 2 JBrowse link 3 2,648,787 2,668,770 RGD:8554872
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:8554872
G Ajm1 apical junction component 1 homolog JBrowse link 3 2,799,032 2,806,686 RGD:8554872
G Anapc2 anaphase promoting complex subunit 2 JBrowse link 3 2,490,496 2,502,247 RGD:8554872
G Arrdc1 arrestin domain containing 1 JBrowse link 3 2,129,876 2,137,161 RGD:8554872
G C8g complement C8 gamma chain JBrowse link 3 2,724,616 2,727,616 RGD:8554872
G Camsap1 calmodulin regulated spectrin-associated protein 1 JBrowse link 3 3,373,971 3,434,027 RGD:8554872
G Card9 caspase recruitment domain family, member 9 JBrowse link 3 3,798,346 3,806,841 RGD:8554872
G Ccdc183 coiled-coil domain containing 183 JBrowse link 3 2,832,893 2,843,050 RGD:8554872
G Clic3 chloride intracellular channel 3 JBrowse link 3 2,675,732 2,678,248 RGD:8554872
G Cysrt1 cysteine rich tail 1 JBrowse link 3 2,458,295 2,462,037 RGD:8554872
G Dipk1b divergent protein kinase domain 1B JBrowse link 3 4,083,797 4,091,550 RGD:8554872
G Dnlz DNL-type zinc finger JBrowse link 3 3,796,480 3,798,467 RGD:8554872
G Dph7 diphthamide biosynthesis 7 JBrowse link 3 2,170,193 2,179,101 RGD:8554872
G Dpp7 dipeptidylpeptidase 7 JBrowse link 3 2,569,135 2,573,387 RGD:8554872
G Edf1 endothelial differentiation-related factor 1 JBrowse link 3 2,781,169 2,785,474 RGD:8554872
G Egfl7 EGF-like-domain, multiple 7 JBrowse link 3 4,034,759 4,044,280 RGD:8554872
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:7240710
RGD:8554872
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 JBrowse link 3 2,617,795 2,623,818 RGD:8554872
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 JBrowse link 3 2,286,363 2,299,720 RGD:8554872
G Entr1 endosome associated trafficking regulator 1 JBrowse link 3 3,827,498 3,834,219 RGD:8554872
G Fam166a family with sequence similarity 166, member A JBrowse link 3 2,434,348 2,441,706 RGD:8554872
G Fbxw5 F-box and WD repeat domain containing 5 JBrowse link 3 2,726,705 2,731,213 RGD:8554872
G Fut7 fucosyltransferase 7 JBrowse link 3 2,637,281 2,646,497 RGD:8554872
G Gpsm1 G-protein signaling modulator 1 JBrowse link 3 3,767,394 3,794,360 RGD:8554872
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Lcn10 lipocalin 10 JBrowse link 3 2,894,702 2,898,255 RGD:8554872
G Lcn12 lipocalin 12 JBrowse link 3 2,716,547 2,719,135 RGD:8554872
G Lcn6 lipocalin 6 JBrowse link 3 2,888,103 2,893,498 RGD:8554872
G Lcn8 lipocalin 8 JBrowse link 3 2,871,890 2,875,682 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Lrrc26 leucine rich repeat containing 26 JBrowse link 3 2,506,426 2,507,752 RGD:8554872
G Mamdc4 MAM domain containing 4 JBrowse link 3 2,786,523 2,795,109 RGD:8554872
G Man1b1 mannosidase, alpha, class 1B, member 1 JBrowse link 3 2,547,259 2,569,051 RGD:8554872
G Mir126b microRNA 126b JBrowse link 3 4,042,488 4,042,560 RGD:8554872
G Mrpl41 mitochondrial ribosomal protein L41 JBrowse link 3 2,181,044 2,181,962 RGD:8554872
G Nacc2 NACC family member 2 JBrowse link 3 3,508,084 3,574,787 RGD:8554872
G Ndor1 NADPH dependent diflavin oxidoreductase 1 JBrowse link 3 2,466,698 2,474,928 RGD:8554872
G Nelfb negative elongation factor complex member B JBrowse link 3 2,414,448 2,431,148 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Noxa1 NADPH oxidase activator 1 JBrowse link 3 2,299,676 2,309,491 RGD:8554872
G Npdc1 neural proliferation, differentiation and control, 1 JBrowse link 3 2,624,231 2,630,672 RGD:8554872
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 JBrowse link 13 89,585,072 89,591,278 RGD:8554872
G Nrarp Notch-regulated ankyrin repeat protein JBrowse link 3 2,396,143 2,398,697 RGD:8554872
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor JBrowse link 3 2,262,173 2,270,996 RGD:8554872
G Paep progestagen associated endometrial protein JBrowse link 3 2,935,396 2,938,883 RGD:8554872
G Paxx PAXX, non-homologous end joining factor JBrowse link 3 2,678,987 2,681,668 RGD:8554872
G Phpt1 phosphohistidine phosphatase 1 JBrowse link 3 2,797,037 2,798,436 RGD:8554872
G Pmpca peptidase, mitochondrial processing subunit alpha JBrowse link 3 3,834,262 3,842,061 RGD:8554872
G Pnpla7 patatin-like phospholipase domain containing 7 JBrowse link 3 2,182,191 2,261,890 RGD:8554872
G Ptgds prostaglandin D2 synthase JBrowse link 3 2,686,125 2,689,059 RGD:8554872
G Qsox2 quiescin sulfhydryl oxidase 2 JBrowse link 3 3,662,324 3,691,972 RGD:8554872
G Rabl6 RAB, member RAS oncogene family-like 6 JBrowse link 3 2,806,777 2,832,697 RGD:8554872
G Rnf208 ring finger protein 208 JBrowse link 3 2,462,466 2,463,790 RGD:8554872
G Rnf224 ring finger protein 224 JBrowse link 3 2,454,077 2,458,186 RGD:8554872
G Sapcd2 suppressor APC domain containing 2 JBrowse link 3 2,590,355 2,597,283 RGD:8554872
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor JBrowse link 3 3,856,218 3,890,785 RGD:8554872
G Slc34a3 solute carrier family 34 member 3 JBrowse link 3 2,448,391 2,454,019 RGD:8554872
G Snapc4 small nuclear RNA activating complex, polypeptide 4 JBrowse link 3 3,808,596 3,827,425 RGD:8554872
G Ssna1 SS nuclear autoantigen 1 JBrowse link 3 2,489,017 2,490,481 RGD:8554872
G Stpg3 sperm-tail PG-rich repeat containing 3 JBrowse link 3 2,431,757 2,434,258 RGD:8554872
G Tmem141 transmembrane protein 141 JBrowse link 3 2,843,635 2,845,593 RGD:8554872
G Tmem203 transmembrane protein 203 JBrowse link 3 2,474,972 2,475,800 RGD:8554872
G Tmem210 transmembrane protein 210 JBrowse link 3 2,504,674 2,505,708 RGD:8554872
G Tmem250 transmembrane protein 250 JBrowse link 3 3,590,783 3,594,475 RGD:8554872
G Tor4a torsin family 4, member A JBrowse link 3 2,407,857 2,411,544 RGD:8554872
G Tprn taperin JBrowse link 3 2,480,232 2,487,710 RGD:8554872
G Traf2 Tnf receptor-associated factor 2 JBrowse link 3 2,746,061 2,770,690 RGD:8554872
G Tubb4b tubulin, beta 4B class IVb JBrowse link 3 2,441,585 2,444,369 RGD:8554872
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 JBrowse link 3 2,579,250 2,584,523 RGD:8554872
G Ubac1 UBA domain containing 1 JBrowse link 3 3,453,396 3,476,242 RGD:8554872
G Zmynd19 zinc finger, MYND-type containing 19 JBrowse link 3 2,158,995 2,168,873 RGD:8554872

Term paths to the root
Path 1
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  disease 16017
    syndrome 6141
      Kleefstra syndrome 75
        Kleefstra syndrome 1 74
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        central nervous system disease 8856
          brain disease 8144
            disease of mental health 5768
              developmental disorder of mental health 2918
                specific developmental disorder 2099
                  intellectual disability 1940
                    Kleefstra syndrome 75
                      Kleefstra syndrome 1 74
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.