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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:autosomal dominant intellectual developmental disorder 8
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Accession:DOID:0070038 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. (DO)
Synonyms:exact_synonym: GRIN1-related disorder;   MRD8;   NDHMSD;   autosomal dominant mental retardation 8;   autosomal dominant non-syndromic intellectual disability 8;   neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
 primary_id: MIM:614254
 xref: EFO:0009300;   NCI:C206518


show annotations for term's descendants           Sort by:
autosomal dominant intellectual developmental disorder 8 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,898,222...107,908,125 JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		JBrowse link
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,436,360 JBrowse link
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:108,170,361...108,189,498 JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: GRIN1-related disorder | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10197535 PMID:10201407 PMID:12451122 PMID:16199547 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		JBrowse link
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100976912 uncharacterized protein C9orf163 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,561,734...107,562,397 JBrowse link
G LRRC26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,631,543...108,632,733 JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990 		JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,906,160...107,908,130 JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154 		JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		JBrowse link
G RNF208 ring finger protein 208 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:108,122,658...108,132,397 JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		JBrowse link
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,849,421...107,851,438 JBrowse link
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 9:108,251,235...108,261,541 JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 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: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 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 15830
    Developmental Disease 13856
      Neurodevelopmental Disorders 6972
        intellectual disability 4403
          autosomal dominant intellectual developmental disorder 425
            autosomal dominant intellectual developmental disorder 8 75
Path 2
Term Annotations click to browse term
  disease 15830
    disease of anatomical entity 15487
      nervous system disease 13581
        central nervous system disease 12144
          brain disease 11409
            disease of mental health 8248
              developmental disorder of mental health 5639
                specific developmental disorder 4603
                  intellectual disability 4403
                    autosomal dominant intellectual developmental disorder 425
                      autosomal dominant intellectual developmental disorder 8 75
paths to the root