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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:Kleefstra syndrome 1
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Accession:DOID:0060352 term browser browse the term
Definition:Kleefstra 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 deletion syndrome;   9q34.3 microdeletion syndrome;   chromosome 9Q deletion syndrome;   chromosome 9q34.3 deletion syndrome
 primary_id: MESH:C563043
 alt_id: DOID:0070075;   OMIM:610253
 xref: GARD:8672;   ORDO:261494
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Kleefstra syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:21344641 PMID:22610116 PMID:23307537 PMID:25590979 PMID:25741868 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22670141 PMID:25741868 PMID:26833960 More... NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,770,385...7,778,994
Ensembl chr 3:7,770,379...7,778,982 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16826528 PMID:17576681 PMID:18414213 More... NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Fam166a family with sequence similarity 166, member A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22726846 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,050,353...8,052,861
Ensembl chr 3:8,051,475...8,051,945 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356 		JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,100,595...8,101,643
Ensembl chr 3:8,100,590...8,101,643 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:8,037,844...8,040,294
Ensembl chr 3:8,037,799...8,040,296 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:27891178 PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:25741868 PMID:26833960 PMID:27891178 PMID:28492532 NCBI chr 3:7,758,086...7,778,982
Ensembl chr 3:7,758,133...7,767,514 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Kleefstra syndrome 78
        Kleefstra syndrome 1 77
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3879
                    Kleefstra syndrome 78
                      Kleefstra syndrome 1 77
paths to the root