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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: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


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 chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		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 chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496 		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 chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707 		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 chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602 		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 chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286 		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 chr 9:107,898,222...107,908,125 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 chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652 		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 chr 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688 		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 chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419 		JBrowse link
G C8G complement 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 chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		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 chr 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686 		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 chr 9:108,989,621...109,256,841 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 chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911 		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 chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		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 chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166 		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 chr 9:108,303,199...108,310,953
Ensembl chr 9:137,271,636...137,275,827 		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 chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		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 chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		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 chr 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611 		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 chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697 		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 chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833 		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 chr 9:107,432,709...107,436,360 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 chr 9:108,635,082...108,680,315
Ensembl chr 9:137,597,639...137,627,279 		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 chr 9:108,170,361...108,189,498 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 chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133 		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 chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448 		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 chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		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 chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031 		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 chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092 		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 chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414 		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 chr 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312 		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 chr 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841 		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 chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945 		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 chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		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 chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268 		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 chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561 		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 chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382 		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 chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		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 chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 PMID:39013459 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		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 chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869 		JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643 		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 chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304 		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 chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758
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 chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864 		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 chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 9:106,481,811...106,482,817 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100976912 uncharacterized protein C9orf163 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr 9:107,561,734...107,562,397 JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100994627 ficolin-2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992 		JBrowse link
G LOC100994951 ficolin-1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111 		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 chr 9:108,228,889...108,230,178
Ensembl chr 9:137,198,298...137,199,602 		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 chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065 		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 chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066 		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 chr 9:108,631,543...108,632,733 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 chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		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 chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631 		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 chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176 		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 chr 9:108,265,305...108,278,923
Ensembl chr 9:137,233,940...137,247,716 		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 chr 9:108,314,535...108,333,050
Ensembl chr 9:137,278,964...137,301,751 		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 chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		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 chr 9:108,490,455...108,503,555
Ensembl chr 9:137,455,874...137,468,196 		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 chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		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 chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799 		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 chr 9:108,358,959...108,361,586 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 chr 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990 		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 chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:25741868 PMID:28492532 PMID:31209758 NCBI chr 9:106,669,550...106,681,918 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 chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805 		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 chr 9:107,906,160...107,908,130 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 chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837 		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 chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569 		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 chr 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154 		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 chr 9:106,620,368...106,629,655 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 chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680 		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 chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774 		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 chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		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 chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413 		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 chr 9:108,279,801...108,281,695
Ensembl chr 9:137,248,765...137,249,550 		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 chr 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947 		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 chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704 		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 chr 9:108,122,658...108,132,397 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 chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642 		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 chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		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 chr 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051 		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 chr 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947 		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 chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		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 chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		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 chr 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406 		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 chr 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430 		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 chr 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670 		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 chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054 		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 chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007 		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 chr 9:107,849,421...107,851,438 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 chr 9:108,252,170...108,265,276
Ensembl chr 9:137,233,273...137,233,683 		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 chr 9:108,231,003...108,232,819
Ensembl chr 9:137,200,480...137,201,612 		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 chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292 		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 chr 9:108,337,814...108,342,723
Ensembl chr 9:137,307,626...137,310,283 		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 chr 9:108,251,235...108,261,541 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 chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331 		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 chr 9:108,300,868...108,303,321
Ensembl chr 9:137,268,942...137,271,758 		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 chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793 		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 chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		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 chr 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036 		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 chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889 		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 chr 9:108,682,634...108,696,671
Ensembl chr 9:137,630,101...137,642,871 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    syndrome 10732
      Kleefstra syndrome 109
        Kleefstra syndrome 1 108
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13588
        central nervous system disease 12155
          brain disease 11419
            disease of mental health 8264
              developmental disorder of mental health 5657
                specific developmental disorder 4628
                  intellectual disability 4427
                    Kleefstra syndrome 109
                      Kleefstra syndrome 1 108
paths to the root