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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 9:48,610,906...48,630,932
Ensembl chr 9:48,613,996...48,629,857 		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 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620 		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 9:48,738,344...48,744,604 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 9:48,475,777...48,486,715
Ensembl chr 9:48,471,584...48,609,303 		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 9:48,178,423...48,187,051
Ensembl chr 9:48,179,098...48,187,022 		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 9:48,672,332...48,674,190
Ensembl chr 9:48,672,333...48,673,854 		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 9:47,813,625...48,009,532
Ensembl chr 9:47,816,393...48,009,406 		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 9:49,458,701...49,523,056
Ensembl chr 9:49,458,694...49,521,332 		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 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591 		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 9:48,768,012...48,775,191 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 9:48,426,916...48,432,245
Ensembl chr 9:48,428,759...48,432,243 		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 9:48,634,061...48,637,083
Ensembl chr 9:48,634,878...48,637,015 		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 9:48,447,774...48,449,765 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 9:48,836,323...48,844,827
Ensembl chr 9:48,837,035...48,845,482 		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 9:49,120,802...49,122,789
Ensembl chr 9:49,120,818...49,122,804 		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 9:48,210,254...48,220,186
Ensembl chr 9:48,207,392...48,220,047 		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 9:48,554,062...48,557,752
Ensembl chr 9:48,554,077...48,557,746 		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 9:48,722,918...48,726,358
Ensembl chr 9:48,722,658...48,731,723 		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 9:48,878,075...48,890,002
Ensembl chr 9:48,878,075...48,895,541 		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 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828 		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 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452 		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 9:48,301,499...48,306,210
Ensembl chr 9:48,303,206...48,305,992 		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 9:49,083,368...49,089,608
Ensembl chr 9:49,083,499...49,089,023 		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 9:48,311,700...48,393,469
Ensembl chr 9:48,344,938...48,390,113 		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 9:48,674,299...48,678,846
Ensembl chr 9:48,673,456...48,679,128 		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 9:48,604,879...48,609,292
Ensembl chr 9:48,606,435...48,609,303 		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 9:49,124,828...49,152,079
Ensembl chr 9:49,118,627...49,152,208 		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 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050 		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 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191 		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 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633 		JBrowse link
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:48,806,874...48,810,266 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 9:48,663,181...48,669,264
Ensembl chr 9:48,665,943...48,668,859 		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 9:48,784,995...48,789,272
Ensembl chr 9:48,769,526...48,794,188 		JBrowse link
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:48,800,699...48,805,946 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 9:48,789,948...48,796,002
Ensembl chr 9:48,769,526...48,794,188 		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 9:48,643,845...48,647,187 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 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:48,533,962...48,545,514
Ensembl chr 9:48,533,962...48,545,344 		JBrowse link
G LOC606974 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:48,528,738...48,532,888 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 9:48,490,172...48,492,141
Ensembl chr 9:48,490,995...48,492,031 		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 9:48,726,392...48,736,173
Ensembl chr 9:48,727,523...48,734,820 		JBrowse link
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504 		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 9:48,220,805...48,221,656
Ensembl chr 9:48,221,159...48,221,566 		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 9:49,323,613...49,393,017
Ensembl chr 9:49,363,280...49,389,508 		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 9:48,456,256...48,464,930
Ensembl chr 9:48,455,260...48,464,970 		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 9:48,411,725...48,425,044
Ensembl chr 9:48,408,005...48,423,308 		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 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		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 9:48,306,652...48,316,196
Ensembl chr 9:48,313,723...48,316,201 		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 9:48,596,398...48,601,327
Ensembl chr 9:48,596,398...48,611,437 		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 9:48,394,568...48,396,849
Ensembl chr 9:48,394,754...48,395,098 		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 9:48,287,019...48,295,540
Ensembl chr 9:48,287,014...48,294,780 		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 9:48,637,735...48,639,289
Ensembl chr 9:48,637,731...48,639,239 		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 9:48,736,310...48,737,771
Ensembl chr 9:48,736,333...48,737,725 		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 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961 		JBrowse link
G PNPLA7 patatin like phospholipase domain containing 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 9:48,221,754...48,286,352
Ensembl chr 9:48,221,514...48,286,352 		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 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814 		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 9:49,213,295...49,245,164
Ensembl chr 9:49,213,295...49,245,176 		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 9:48,746,363...48,767,529
Ensembl chr 9:48,594,845...48,770,844 		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 9:48,452,147...48,453,585
Ensembl chr 9:48,452,622...48,453,416 		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 9:48,445,143...48,445,632
Ensembl chr 9:48,445,143...48,445,913 		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 9:48,571,045...48,578,517
Ensembl chr 9:48,570,891...48,594,452 		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 9:49,027,190...49,060,858
Ensembl chr 9:49,031,669...49,060,848 		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 9:48,437,893...48,444,103
Ensembl chr 9:48,438,007...48,440,736 		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 9:49,090,615...49,110,763
Ensembl chr 9:49,091,636...49,110,767 		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 9:48,474,132...48,475,731
Ensembl chr 9:48,474,139...48,475,691 		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 9:48,424,901...48,426,814 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 9:48,777,694...48,779,518
Ensembl chr 9:48,777,958...48,779,448 		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 9:48,464,982...48,466,528
Ensembl chr 9:48,465,201...48,465,611 		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 9:48,488,897...48,490,044
Ensembl chr 9:48,471,584...48,609,303 		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 9:49,308,397...49,311,360
Ensembl chr 9:49,308,350...49,311,487 		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 9:48,405,017...48,411,583 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
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 9:48,688,071...48,713,936
Ensembl chr 9:48,689,331...48,703,633 		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 9:48,432,114...48,434,626
Ensembl chr 9:48,427,766...48,571,640 		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 9:49,423,924...49,444,589
Ensembl chr 9:49,423,408...49,444,585 		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 9:48,195,375...48,204,137
Ensembl chr 9:48,195,350...48,204,135 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  disease 15757
    Developmental Disease 13766
      Neurodevelopmental Disorders 6934
        intellectual disability 4375
          autosomal dominant intellectual developmental disorder 448
            autosomal dominant intellectual developmental disorder 8 76
Path 2
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  disease 15757
    disease of anatomical entity 15377
      nervous system disease 13506
        central nervous system disease 12077
          brain disease 11341
            disease of mental health 8224
              developmental disorder of mental health 5605
                specific developmental disorder 4582
                  intellectual disability 4375
                    autosomal dominant intellectual developmental disorder 448
                      autosomal dominant intellectual developmental disorder 8 76
paths to the root