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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.


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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 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809
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 PMID:27316244 PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
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 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
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 3:2,799,032...2,806,686
Ensembl chr 3:2,800,650...2,803,574
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 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
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 3:2,129,876...2,137,161
Ensembl chr 3:2,129,879...2,136,936
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 3:2,724,616...2,727,616
Ensembl chr 3:2,724,616...2,727,616
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 PMID:28492532 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
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 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
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 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
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 3:2,832,893...2,843,050
Ensembl chr 3:2,832,847...2,841,331
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 3:2,675,732...2,678,248
Ensembl chr 3:2,676,296...2,680,565
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 3:2,458,295...2,462,037
Ensembl chr 3:2,458,295...2,459,385
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 3:4,083,797...4,091,550
Ensembl chr 3:4,083,864...4,092,289
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 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
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 3:2,170,193...2,179,101
Ensembl chr 3:2,170,533...2,179,010
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 3:2,569,135...2,573,387
Ensembl chr 3:2,569,135...2,573,387
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 3:2,781,169...2,785,474
Ensembl chr 3:2,781,169...2,785,474
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 3:4,034,759...4,044,280
Ensembl chr 3:4,034,921...4,043,936
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1
ClinVar Annotator: match by term: KLEEFSTRA SYNDROME 1
ClinVar Annotator: match by term: Chromosome 9q deletion syndrome
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16826528 PMID:17576681 PMID:18414213 PMID:19264732 PMID:20945554 PMID:22670141 PMID:24088041 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26633545 PMID:26792009 PMID:26833960 PMID:27651234 PMID:27891178 PMID:28057753 PMID:28166811 PMID:28492532 PMID:32860008 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
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 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
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 3:2,286,363...2,299,720
Ensembl chr 3:2,288,667...2,302,782
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 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
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 3:2,434,348...2,441,706
Ensembl chr 3:2,438,089...2,441,706
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 3:2,726,705...2,731,213
Ensembl chr 3:2,727,254...2,731,212
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 3:2,637,281...2,646,497
Ensembl chr 3:2,642,531...2,646,648
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 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
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 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
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 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
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 3:2,894,702...2,898,255
Ensembl chr 3:2,894,702...2,898,254
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 3:2,716,547...2,719,135
Ensembl chr 3:2,716,534...2,719,513
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 3:2,888,103...2,893,498
Ensembl chr 3:2,888,103...2,893,495
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 3:2,871,890...2,875,682
Ensembl chr 3:2,872,031...2,875,015
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 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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 3:2,506,426...2,507,752
Ensembl chr 3:2,506,426...2,507,752
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 3:2,786,523...2,795,109
Ensembl chr 3:2,786,523...2,795,109
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 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
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 3:4,042,488...4,042,560 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 3:2,181,044...2,181,962
Ensembl chr 3:2,181,045...2,181,962
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 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787
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 3:2,466,698...2,474,928
Ensembl chr 3:2,466,544...2,474,913
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 3:2,414,448...2,431,148
Ensembl chr 3:2,414,451...2,431,148
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 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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 3:2,299,676...2,309,491
Ensembl chr 3:2,299,691...2,309,179
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 3:2,624,231...2,630,672
Ensembl chr 3:2,625,015...2,630,670
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO ClinVar Annotator: match by term: Chromosome 9q deletion syndrome ClinVar PMID:22726846 NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
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 3:2,396,143...2,398,697
Ensembl chr 3:2,396,143...2,398,689
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 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995
JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Chromosome 9q deletion syndrome ClinVar PMID:25741868 NCBI chr 3:2,935,396...2,938,883 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 3:2,678,987...2,681,668
Ensembl chr 3:2,678,956...2,680,622
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 3:2,797,037...2,798,436
Ensembl chr 3:2,796,997...2,798,470
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 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
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 3:2,182,191...2,261,890
Ensembl chr 3:2,182,957...2,261,878
Ensembl chr 3:2,182,957...2,261,878
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 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
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 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972
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 3:2,806,777...2,832,697
Ensembl chr 3:2,806,777...2,832,697
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 3:2,462,466...2,463,790
Ensembl chr 3:2,462,466...2,463,790
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 3:2,454,077...2,458,186
Ensembl chr 3:2,455,571...2,456,041
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 3:2,590,355...2,597,283
Ensembl chr 3:2,591,331...2,596,583
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 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
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 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
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 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
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 3:2,489,017...2,490,481
Ensembl chr 3:2,489,042...2,490,392
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 3:2,431,757...2,434,258
Ensembl chr 3:2,432,690...2,434,257
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 3:2,843,635...2,845,593
Ensembl chr 3:2,843,635...2,845,593
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 3:2,474,972...2,475,800
Ensembl chr 3:2,474,972...2,475,800
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 3:2,504,674...2,505,708
Ensembl chr 3:2,504,694...2,505,666
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 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475
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 3:2,407,857...2,411,544
Ensembl chr 3:2,407,857...2,411,544
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 3:2,480,232...2,487,710
Ensembl chr 3:2,480,232...2,487,710
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 3:2,746,061...2,770,690
Ensembl chr 3:2,746,075...2,770,620
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 3:2,441,585...2,444,369
Ensembl chr 3:2,441,733...2,444,281
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 3:2,579,250...2,584,523
Ensembl chr 3:2,579,258...2,584,523
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 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215
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 3:2,158,995...2,168,873
Ensembl chr 3:2,158,995...2,168,370
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      Kleefstra syndrome 78
        Kleefstra syndrome 1 77
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              developmental disorder of mental health 4362
                specific developmental disorder 3621
                  intellectual disability 3433
                    Kleefstra syndrome 78
                      Kleefstra syndrome 1 77
paths to the root