Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
Accession:DOID:0060352 term browser browse the term
Definition:A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, 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;   KLEFS1;   chromosome 9Q deletion syndrome;   chromosome 9q34.3 deletion syndrome
 broad_synonym: EHMT1-related condition
 alt_id: DOID:0070075
 xref: GARD:8672;   MESH:C563043;   MIM:610253;   MONDO:0027407;   ORDO:261494

GViewer not supported for the selected species.

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:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,161,340...1,183,807
Ensembl chr12:1,162,865...1,183,113 		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 chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,562,213...4,602,494
Ensembl chr12:4,562,864...4,602,282 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,511,063...1,525,146
Ensembl chr12:1,511,124...1,525,440 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,341,804...1,347,981
Ensembl chr12:1,341,927...1,344,854 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:1,000,885...1,014,710
Ensembl chr12:1,000,952...1,016,261 		JBrowse link
G ARRDC1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:598,686...608,282
Ensembl chr12:595,342...608,198 		JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,075,123...4,112,727
Ensembl chr12:4,089,621...4,109,441 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,665,927...4,676,671
Ensembl chr12:4,668,013...4,676,571 		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:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:75,441...335,980
Ensembl chr12:78,011...335,820 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,298,341...2,395,392
Ensembl chr12:2,298,666...2,396,503 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,829,913...1,841,489
Ensembl chr12:1,832,989...1,837,914 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,379,961...1,391,539 JBrowse link
G CIMIP2A ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:940,991...945,768
Ensembl chr12:941,485...945,650 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,198,192...1,200,296
Ensembl chr12:1,198,387...1,200,246 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		JBrowse link
G CUNH9orf163 chromosome unknown C9orf163 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,716,912...1,718,064 JBrowse link
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:963,069...964,706
Ensembl chr12:963,308...963,742 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,474,041...4,498,942
Ensembl chr12:4,474,958...4,498,910 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,467,927...1,483,614
Ensembl chr12:1,464,007...1,483,573 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,841,598...1,846,006
Ensembl chr12:1,841,738...1,843,462 		JBrowse link
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:633,517...651,892 JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,062,639...1,079,143
Ensembl chr12:1,074,811...1,079,550 		JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,322,424...1,327,241
Ensembl chr12:1,322,311...1,329,789 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,525,615...1,535,024 JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 1 OMIM
ClinVar		 PMID:2663354 PMID:9536098 PMID:15805155 PMID:16199547 PMID:16826528 More... NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,137,500...1,142,798
Ensembl chr12:1,137,495...1,143,231 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:752,258...758,148
Ensembl chr12:752,774...757,614 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,791,860...1,800,874
Ensembl chr12:1,792,309...1,801,124 		JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:768,218...884,103
Ensembl chr12:803,896...884,049 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,525,338...4,560,676
Ensembl chr12:4,557,505...4,558,705 		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:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,246,416...1,250,930
Ensembl chr12:1,246,702...1,252,688 		JBrowse link
G FCN1 ficolin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,227,790...3,236,161 JBrowse link
G FCN2 ficolin 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,255,810...3,264,561 JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,158,353...1,160,913 JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,545,555...2,564,090
Ensembl chr12:2,547,780...2,563,731 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,845,882...1,877,400
Ensembl chr12:1,847,233...1,877,265 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:1,020,556...1,050,568
Ensembl chr12:1,019,263...1,050,231 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,763,800...1,776,139
Ensembl chr12:1,763,865...1,776,712 		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:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,410,520...2,502,176
Ensembl chr12:2,408,751...2,486,858 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 PMID:39013459 NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137 		JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,639,012...2,648,767
Ensembl chr12:2,640,102...2,648,073 		JBrowse link
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,452,484...1,456,311
Ensembl chr12:1,452,494...1,456,008 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,426,428...1,433,627
Ensembl chr12:1,427,420...1,431,282 		JBrowse link
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,446,886...1,451,406
Ensembl chr12:1,447,137...1,451,087 		JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,434,872...1,439,861
Ensembl chr12:1,435,151...1,438,604 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,526,003...2,530,175 JBrowse link
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,205,545...1,210,477 JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,997,437...2,007,473
Ensembl chr12:2,000,638...2,006,430 		JBrowse link
G LOC103239589 chromosome 12 C9orf139 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,154,321...1,158,213 JBrowse link
G LOC103239599 complement component C8 gamma chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,233,119...1,246,410
Ensembl chr12:1,240,152...1,246,392 		JBrowse link
G LOC103239650 glycodelin ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:25741868 PMID:28492532 PMID:31209758 NCBI chr12:2,624,894...2,630,817
Ensembl chr12:2,625,017...2,630,602 		JBrowse link
G LOC103239687 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385 		JBrowse link
G LRRC26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:1,018,560...1,020,556
Ensembl chr12:1,019,263...1,020,460 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,328,513...1,336,868
Ensembl chr12:1,328,709...1,336,868 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,080,492...1,104,981
Ensembl chr12:1,080,305...1,105,027 		JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:654,233...654,942
Ensembl chr12:654,321...654,734 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,665,725...2,669,478
Ensembl chr12:2,665,620...2,669,407 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,611,952...4,623,373
Ensembl chr12:4,612,268...4,622,381 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,104,649...2,192,283
Ensembl chr12:2,148,312...2,192,432 		JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:970,256...983,893
Ensembl chr12:973,078...983,791 		JBrowse link
G NELFB negative elongation factor complex member B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:914,384...933,921 JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G NOXA1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:758,107...769,252
Ensembl chr12:758,152...769,095 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,144,810...1,151,593
Ensembl chr12:1,144,752...1,151,619 		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 chr20:2,724,843...2,752,999
Ensembl chr20:2,744,908...2,756,658 		JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:888,636...891,269
Ensembl chr12:888,998...889,342 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:734,863...744,214
Ensembl chr12:735,127...744,659 		JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,028,681...3,063,754 JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,200,945...1,202,628
Ensembl chr12:1,201,116...1,202,505 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,338,205...1,340,143
Ensembl chr12:1,338,388...1,339,753 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,669,623...2,674,929
Ensembl chr12:2,670,241...2,675,646 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,778,376...1,791,878
Ensembl chr12:1,776,983...1,791,787 		JBrowse link
G PNPLA7 patatin like domain 7, lysophospholipase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:655,723...734,315 JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,681,538...2,690,589
Ensembl chr12:2,682,299...2,685,943 		JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,210,567...1,214,631
Ensembl chr12:1,211,487...1,214,531 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,956,441...1,997,344 JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,348,082...1,379,779
Ensembl chr12:1,348,742...1,379,518 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,718,728...4,732,138
Ensembl chr12:4,718,799...4,731,241 		JBrowse link
G RNF208 ring finger protein 208 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:964,434...968,163
Ensembl chr12:968,438...969,223
Ensembl chr12:968,438...969,223 		JBrowse link
G RNF224 ring finger protein 224 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:959,725...962,962 JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,119,873...1,127,966
Ensembl chr12:1,121,302...1,127,533 		JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,397,312...4,469,890
Ensembl chr12:4,397,539...4,469,562 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,718,520...1,763,562
Ensembl chr12:1,724,838...1,761,941 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,649,140...4,665,609
Ensembl chr12:4,657,613...4,664,669 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:952,486...958,602
Ensembl chr12:952,278...957,308 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,801,975...1,829,823
Ensembl chr12:1,802,937...1,829,968 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,493,066...2,508,396 JBrowse link
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:999,142...1,000,877
Ensembl chr12:999,327...1,000,831 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,732,267...4,763,687
Ensembl chr12:4,732,772...4,759,244 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:934,282...937,697 JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,775,521...4,780,468
Ensembl chr12:4,775,554...4,780,428 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,759,307...4,775,227
Ensembl chr12:4,759,388...4,776,219 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,393,836...1,395,816
Ensembl chr12:1,393,944...1,395,740 		JBrowse link
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:983,920...985,467
Ensembl chr12:983,946...984,623 		JBrowse link
G TMEM210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:1,017,365...1,018,463
Ensembl chr12:1,017,378...1,018,418 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,081,265...2,085,553
Ensembl chr12:2,083,261...2,083,680 		JBrowse link
G TOR4A torsin family 4 member A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:908,956...911,198
Ensembl chr12:908,975...910,246 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:988,225...997,914 JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,263,688...1,309,626
Ensembl chr12:1,263,274...1,290,907 		JBrowse link
G TUBB4B tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:945,643...948,087
Ensembl chr12:945,459...948,065 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,106,245...1,113,363 JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,237,860...2,266,011
Ensembl chr12:2,238,013...2,266,498 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,142,966...4,377,849
Ensembl chr12:4,143,139...4,377,852 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,982,998...4,007,605
Ensembl chr12:3,983,013...4,007,119 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:621,599...630,703
Ensembl chr12:621,651...632,887 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    syndrome 10489
      Kleefstra syndrome 109
        Kleefstra syndrome 1 108
Path 2
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13232
        central nervous system disease 11823
          brain disease 11092
            disease of mental health 7987
              developmental disorder of mental health 5459
                specific developmental disorder 4493
                  intellectual disability 4295
                    Kleefstra syndrome 109
                      Kleefstra syndrome 1 108
paths to the root