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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 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   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 non-syndromic intellectual disability
go back to main search page
Accession:DOID:0060307 term browser browse the term
Definition:A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern. (DO)
Synonyms:exact_synonym: autosomal dominant mental retardation;   autosomal dominant non-syndromic mental retardation
 primary_id: RDO:9004973
 xref: GARD:12107;   OMIM:PS156200;   ORDO:178469
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal dominant non-syndromic intellectual disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 activator of transcription and developmental regulator AUTS2 ISS MouseDO
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar PMID:25741868 NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant ClinVar NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISS MouseDO NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant ClinVar NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant ClinVar NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant ClinVar NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISS MouseDO NCBI chr13:89,439,633...89,447,958
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Arboleda-Tham syndrome
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32		 OMIM
ClinVar		 PMID:17374998 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 More... NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
autosomal dominant mental retardation 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
ClinVar Annotator: match by OMIM:613443		 OMIM
ClinVar		 PMID:7679508 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
autosomal dominant mental retardation 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 ClinVar
OMIM		 PMID:21076407 PMID:24307393 PMID:25741868 PMID:28288114 PMID:34906502 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
autosomal dominant mental retardation 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28669405 NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704 		JBrowse link
autosomal dominant mental retardation 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag1 stromal antigen 1 ISO ClinVar Annotator: match by term: STAG1-related disorder
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47		 ClinVar
OMIM		 PMID:25741868 PMID:25748820 PMID:28119487 PMID:30158690 NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677 		JBrowse link
autosomal dominant mental retardation 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 ClinVar
OMIM		 PMID:25741868 PMID:25741888 PMID:28886345 PMID:32860008 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
autosomal dominant mental retardation 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES		 ClinVar
OMIM		 PMID:23665959 PMID:25741868 PMID:26785492 PMID:28191889 PMID:28303347 More... NCBI chr 2:135,458,018...135,520,756
Ensembl chr 2:135,457,948...135,520,756 		JBrowse link
autosomal dominant mental retardation 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 ClinVar
OMIM		 PMID:25363768 PMID:25741868 PMID:28191889 PMID:29276005 PMID:30504930 NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819 		JBrowse link
autosomal dominant mental retardation 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 ClinVar
OMIM		 PMID:23033978 PMID:25741868 PMID:25961944 PMID:28191889 PMID:28394464 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055 		JBrowse link
autosomal dominant mental retardation 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 ClinVar
OMIM		 PMID:25363768 PMID:25741868 PMID:25741872 PMID:28130356 PMID:29100089 More... NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
autosomal dominant mental retardation 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 ClinVar
OMIM		 PMID:25741868 PMID:29100089 PMID:29560374 PMID:32581362 NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
Autosomal Dominant Mental Retardation 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrc2 mannose receptor, C type 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 ClinVar PMID:25741868 NCBI chr10:90,261,986...90,323,187
Ensembl chr10:90,261,394...90,322,856 		JBrowse link
G Tlk2 tousled-like kinase 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 57		 ClinVar
OMIM		 PMID:25741868 PMID:25741869 PMID:27479843 PMID:28492532 PMID:29861108 NCBI chr10:90,154,449...90,248,562
Ensembl chr10:90,156,813...90,248,561 		JBrowse link
Autosomal Dominant Mental Retardation 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58		 ClinVar
OMIM		 PMID:11231286 PMID:25356899 PMID:25741868 PMID:27775603 PMID:28135719 More... NCBI chr19:53,561,262...53,562,780
Ensembl chr19:53,561,190...53,563,819 		JBrowse link
Autosomal Dominant Mental Retardation 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2g calcium/calmodulin-dependent protein kinase II gamma ISO ClinVar Annotator: match by term: Intellectual developmental disorder 59 OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:30184290 NCBI chr15:3,504,017...3,563,050
Ensembl chr15:3,504,085...3,563,050 		JBrowse link
Autosomal Dominant Mental Retardation 60 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31104773 NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140 		JBrowse link
Autosomal Dominant Mental Retardation 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Intellectual developmental disorder 61
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 61		 OMIM
ClinVar		 PMID:25741868 PMID:29740699 NCBI chr10:71,086,978...71,176,535
Ensembl chr10:71,090,516...71,177,242 		JBrowse link
G Wdr1 WD repeat domain 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 61 ClinVar PMID:29740699 NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766 		JBrowse link
Autosomal Dominant Mental Retardation 62 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder 62
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 62		 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26350515 PMID:27479843 PMID:28492532 More... NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
Autosomal Dominant Mental Retardation 63 with Macrocephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY		 OMIM
ClinVar		 PMID:25741868 PMID:27418539 PMID:28796471 PMID:32109419 NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135 		JBrowse link
Autosomal Dominant Mental Retardation 64 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp292 zinc finger protein 292 ISO ClinVar Annotator: match by term: Autosomal dominant intellectual developmental disorder 64
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64		 OMIM
ClinVar		 PMID:25363760 PMID:25741868 PMID:27824329 PMID:30564305 PMID:31723249 NCBI chr 5:49,384,177...49,468,177
Ensembl chr 5:49,387,893...49,468,265 		JBrowse link
Autosomal Dominant Mental Retardation 65 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm4b lysine demethylase 4B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 65		 OMIM
ClinVar		 PMID:25741868 PMID:33232677 NCBI chr 9:1,158,737...1,237,228
Ensembl chr 9:1,158,752...1,236,543 		JBrowse link
autosomal dominant non-syndromic intellectual disability 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2a activin A receptor type 2A ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265 		JBrowse link
G Epc2 enhancer of polycomb homolog 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder		 ClinVar PMID:19904302 PMID:21981781 PMID:23632792 NCBI chr 3:33,867,219...33,967,908
Ensembl chr 3:33,867,219...33,967,150 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:28,766,666...29,064,305
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder		 ClinVar PMID:19904302 PMID:21981781 PMID:23632792 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder
ClinVar Annotator: match by OMIM:156200		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:17847001 PMID:19809484 PMID:19904302 More... RGD:11554204 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156 		JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1
ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder		 ClinVar PMID:19904302 PMID:21981781 PMID:23632792 NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
autosomal dominant non-syndromic intellectual disability 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 10 OMIM
ClinVar		 PMID:21376300 PMID:25741868 NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227 		JBrowse link
autosomal dominant non-syndromic intellectual disability 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41l1 erythrocyte membrane protein band 4.1-like 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 11
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:11050113 PMID:19503082 PMID:21376300 PMID:25326635 PMID:25741868 NCBI chr 3:144,929,195...145,052,723
Ensembl chr 3:144,984,640...145,052,721 		JBrowse link
autosomal dominant non-syndromic intellectual disability 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 13
ClinVar Annotator: match by OMIM:614563		 OMIM
ClinVar		 PMID:18414213 PMID:21076407 PMID:22368300 PMID:23603762 PMID:24033266 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
autosomal dominant non-syndromic intellectual disability 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:175,690,340...175,696,084
Ensembl chr 2:175,690,335...175,695,932 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18
ClinVar Annotator: match by OMIM:615074		 OMIM
ClinVar		 PMID:21681106 PMID:23033978 PMID:25741868 PMID:28077840 PMID:28135719 More... NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058 		JBrowse link
autosomal dominant non-syndromic intellectual disability 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 19
ClinVar Annotator: match by OMIM:615075		 OMIM
ClinVar		 PMID:2614104 PMID:18414213 PMID:23033978 PMID:24033266 PMID:24614104 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
autosomal dominant non-syndromic intellectual disability 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 2 ClinVar NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
autosomal dominant non-syndromic intellectual disability 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 21 OMIM
ClinVar		 PMID:23746550 PMID:25741868 PMID:28492532 PMID:29076501 PMID:31239556 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 22
ClinVar Annotator: match by OMIM:612337		 OMIM
ClinVar		 PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More... NCBI chr13:89,439,633...89,447,958
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
autosomal dominant non-syndromic intellectual disability 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 23
ClinVar Annotator: match by OMIM:615761		 ClinVar
OMIM		 PMID:18414213 PMID:23020937 PMID:24680889 PMID:25138099 PMID:25741868 More... NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
autosomal dominant non-syndromic intellectual disability 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 26 ClinVar
OMIM		 PMID:21680558 PMID:21681106 PMID:22872102 PMID:23332918 PMID:25205402 More...
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 26 ClinVar PMID:25741868 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
autosomal dominant non-syndromic intellectual disability 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by OMIM:616078
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 29		 ClinVar
OMIM		 PMID:18414213 PMID:20436468 PMID:25028416 PMID:25217958 PMID:25663181 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
autosomal dominant non-syndromic intellectual disability 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 3 OMIM
ClinVar		 PMID:18414213 PMID:19012874 PMID:25741868 PMID:28492532 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
autosomal dominant non-syndromic intellectual disability 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmynd11 zinc finger, MYND-type containing 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 30 ClinVar
OMIM		 PMID:25217958 PMID:25741868 PMID:25741899 PMID:27334371 PMID:28191890 More... NCBI chr17:60,542,669...60,631,913
Ensembl chr17:60,543,077...60,631,902 		JBrowse link
autosomal dominant non-syndromic intellectual disability 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankhd1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,161,882...28,260,917
Ensembl chr18:28,162,311...28,268,024 		JBrowse link
G Apbb3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,273,168...28,280,347
Ensembl chr18:28,270,545...28,280,094 		JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,181,744...26,230,035
Ensembl chr18:26,181,732...26,229,884 		JBrowse link
G Cd14 CD14 molecule ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cdc23 cell division cycle 23 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,236,891...26,260,611
Ensembl chr18:26,236,890...26,291,163 		JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185 		JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
G Cxxc5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,427,591...27,458,579
Ensembl chr18:27,427,230...27,458,673 		JBrowse link
G Cystm1 cysteine-rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,945,862...28,013,509
Ensembl chr18:27,951,653...28,013,510 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,269,345...27,303,471
Ensembl chr18:27,269,355...27,298,344 		JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316 		JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,309,711...27,319,106
Ensembl chr18:27,309,718...27,319,032 		JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,263,089...28,268,033
Ensembl chr18:28,162,311...28,268,024 		JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,502,413...26,530,753
Ensembl chr18:26,504,080...26,530,810 		JBrowse link
G Fam13b family with sequence similarity 13, member B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,040,285...26,107,112
Ensembl chr18:26,040,285...26,106,587 		JBrowse link
G Fam53c family with sequence similarity 53, member C ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,364,050...26,378,173
Ensembl chr18:26,364,039...26,376,775 		JBrowse link
G Gfra3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,297,828...26,326,105
Ensembl chr18:26,297,829...26,326,105 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441 		JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
G Igip IgA-inducing protein ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,904,573...27,905,513 JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,358,004...28,372,809
Ensembl chr18:28,357,977...28,378,832 		JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628 		JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,230,294...26,238,780
Ensembl chr18:26,230,230...26,238,780 		JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
G LOC690826 similar to protocadherin beta 16 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,817,816...26,822,864
Ensembl chr18:26,817,816...26,822,864 		JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
G Mzb1 marginal zone B and B1 cell-specific protein ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,238,999...27,241,060
Ensembl chr18:27,239,001...27,241,094 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076 		JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794 		JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,619,635...27,798,505
Ensembl chr18:27,619,661...27,798,505 		JBrowse link
G Paip2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,199,762...27,218,359
Ensembl chr18:27,199,796...27,214,863 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,912,738...28,916,746
Ensembl chr18:28,913,989...28,916,445 		JBrowse link
G Pcdhb15 protocadherin beta 15 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdhb16 protocadherin beta 16 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,185,405...29,195,669
Ensembl chr18:29,192,124...29,200,539 		JBrowse link
G Pcdhb19 protocadherin beta 19 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,203,188...29,207,632 JBrowse link
G Pcdhb2 protocadherin beta 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,005,996...29,008,782
Ensembl chr18:29,005,996...29,008,782 		JBrowse link
G Pcdhb20 protocadherin beta 20 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,211,883...29,215,258
Ensembl chr18:29,211,883...29,215,258 		JBrowse link
G Pcdhb21 protocadherin beta 21 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,215,434...29,229,138
Ensembl chr18:29,218,225...29,221,142 		JBrowse link
G Pcdhb22 protocadherin beta 22 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 Ensembl chr18:29,223,149...29,225,536 JBrowse link
G Pcdhb3 protocadherin beta 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,011,667...29,014,221
Ensembl chr18:29,011,816...29,015,188 		JBrowse link
G Pcdhb5 protocadherin beta 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,024,315...29,032,183
Ensembl chr18:29,028,382...29,053,259 		JBrowse link
G Pcdhb6l protocadherin beta-6-like ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,144,241...29,149,869
Ensembl chr18:29,146,313...29,148,703 		JBrowse link
G Pcdhb8 protocadherin beta 8 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,065,466...29,067,805
Ensembl chr18:29,065,466...29,067,805 		JBrowse link
G Pcdhga1 protocadherin gamma subfamily A, 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,487,404...29,667,865
Ensembl chr18:29,493,954...29,667,868
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga10 protocadherin gamma subfamily A, 10 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,574,693...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga11 protocadherin gamma subfamily A, 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,583,373...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga2 protocadherin gamma subfamily A, 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,493,954...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga3 protocadherin gamma subfamily A, 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,499,148...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga4 protocadherin gamma subfamily A, 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,508,152...29,543,103 JBrowse link
G Pcdhga5 protocadherin gamma subfamily A, 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,519,705...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga6 protocadherin gamma subfamily A, 6 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdhga7 protocadherin gamma subfamily A, 7 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,543,018...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga8 protocadherin gamma subfamily A, 8 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,553,882...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga9 protocadherin gamma subfamily A, 9 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,564,614...29,667,865 JBrowse link
G Pcdhgb1 protocadherin gamma subfamily B, 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,501,739...29,508,024 JBrowse link
G Pcdhgb4 protocadherin gamma subfamily B, 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdhgb5 protocadherin gamma subfamily B, 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdhgb6 protocadherin gamma subfamily B, 6 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532
G Pcdhgb7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,579,129...29,667,868
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhgb8 protocadherin gamma subfamily B, 8 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,588,327...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhgc3 protocadherin gamma subfamily C, 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,633,016...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pfdn1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,014,145...28,067,148
Ensembl chr18:28,014,145...28,067,064 		JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,007,789...26,042,428
Ensembl chr18:26,007,797...26,042,428 		JBrowse link
G Prob1 proline-rich basic protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,242,511...27,249,053
Ensembl chr18:27,244,280...27,247,333 		JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,564,912...27,616,674
Ensembl chr18:27,565,587...27,616,672 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31
ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
ClinVar Annotator: match by OMIM:616158		 ClinVar
OMIM		 PMID:23950017 PMID:24033266 PMID:25342064 PMID:25439098 PMID:25741868 More...
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,452,943...29,457,906
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc35a4 solute carrier family 35, member A4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,280,483...28,284,610
Ensembl chr18:28,279,750...28,284,725 		JBrowse link
G Slc4a9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,128,740...28,144,554
Ensembl chr18:28,128,740...28,141,543 		JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,249,047...27,257,129
Ensembl chr18:27,248,609...27,257,124 		JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr17:6,741,504...7,221,685
Ensembl chr17:6,742,273...7,224,935 		JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335 		JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:29,459,937...29,462,086
Ensembl chr18:29,452,943...29,462,134 		JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843 		JBrowse link
G Ube2d2 ubiquitin-conjugating enzyme E2D 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:27,364,665...27,405,589
Ensembl chr18:27,364,303...27,406,181 		JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283 		JBrowse link
G Zmat2 zinc finger, matrin type 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 ClinVar PMID:28492532 NCBI chr18:28,409,606...28,414,241
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
autosomal dominant non-syndromic intellectual disability 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 33 ClinVar
OMIM		 PMID:23832105 PMID:25741868 PMID:34008892 NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
autosomal dominant non-syndromic intellectual disability 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cert1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 34 OMIM
ClinVar		 PMID:25533962 PMID:25741868 NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074 		JBrowse link
autosomal dominant non-syndromic intellectual disability 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 35 ClinVar PMID:18414213 PMID:19344873 PMID:25533962 PMID:25741868 PMID:25741882 More... NCBI chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060 		JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 35 OMIM
ClinVar		 PMID:18414213 PMID:19344873 PMID:25533962 PMID:25741868 PMID:25741882 More... NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400 		JBrowse link
autosomal dominant non-syndromic intellectual disability 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO ClinVar Annotator: match by term: PPP2R1A-related neurodevelopmental disorder
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 36		 OMIM
ClinVar		 PMID:24728327 PMID:25533962 PMID:25741868 PMID:26168268 PMID:26197979 More... NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129 		JBrowse link
autosomal dominant non-syndromic intellectual disability 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 38 OMIM
ClinVar		 PMID:3066688 PMID:23033978 PMID:23647072 PMID:24697219 PMID:25326326 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
autosomal dominant non-syndromic intellectual disability 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myt1l myelin transcription factor 1-like ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 39
ClinVar Annotator: match by OMIM:616521		 OMIM
ClinVar		 PMID:23033978 PMID:25232846 PMID:25741868 PMID:28859103 PMID:30055078 NCBI chr 6:46,164,742...46,564,234
Ensembl chr 6:46,428,150...46,561,671 		JBrowse link
autosomal dominant non-syndromic intellectual disability 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 4
ClinVar Annotator: match by OMIM:612581		 OMIM
ClinVar		 PMID:19012874 PMID:25741868 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676 		JBrowse link
autosomal dominant non-syndromic intellectual disability 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 40
ClinVar Annotator: match by OMIM:616579
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40		 OMIM
ClinVar		 PMID:21063390 PMID:23020937 PMID:24781758 PMID:25533962 PMID:25741868 More... NCBI chr16:75,733,958...75,744,977
Ensembl chr16:75,733,805...75,744,984 		JBrowse link
autosomal dominant non-syndromic intellectual disability 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 TBL1X receptor 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 41 OMIM
ClinVar		 PMID:18414213 PMID:19760657 PMID:25102098 PMID:25741868 PMID:27133561 More... NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055 		JBrowse link
autosomal dominant non-syndromic intellectual disability 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 42 ClinVar
OMIM		 PMID:9596582 PMID:19344873 PMID:24033266 PMID:25485910 PMID:25741868 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
autosomal dominant non-syndromic intellectual disability 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 43
ClinVar Annotator: match by term: HIVEP2-Related Disorder
ClinVar Annotator: match by OMIM:616977		 ClinVar
OMIM		 PMID:23020937 PMID:24033266 PMID:25741868 PMID:26153216 PMID:27003583 More... NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993 		JBrowse link
autosomal dominant non-syndromic intellectual disability 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 44
ClinVar Annotator: match by term: Mercer-Ba syndrome		 ClinVar
OMIM		 PMID:12551902 PMID:18388777 PMID:23033978 PMID:23934111 PMID:24038936 More... NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135 		JBrowse link
autosomal dominant non-syndromic intellectual disability 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt4 Beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,936,089...4,937,664
Ensembl chr20:4,931,768...4,938,315 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Cuta cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,022,956...5,024,580
Ensembl chr20:5,022,956...5,024,552 		JBrowse link
G Daxx death-domain associated protein ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843 		JBrowse link
G Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,826,725...4,828,742
Ensembl chr20:4,822,026...4,828,742 		JBrowse link
G Ip6k3 inositol hexakisphosphate kinase 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,223,863...5,245,443
Ensembl chr20:5,224,120...5,245,428 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337 		JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,998,832...5,017,107
Ensembl chr20:4,999,047...5,017,105 		JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796 		JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,945,959...4,947,433
Ensembl chr20:4,945,959...4,947,433 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,017,765...5,022,872
Ensembl chr20:5,017,893...5,022,871 		JBrowse link
G Rgl2 ral guanine nucleotide dissociation stimulator-like 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,948,495...4,956,774
Ensembl chr20:4,948,497...4,969,911 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,830,120...4,833,623
Ensembl chr20:4,830,053...4,833,620 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,931,427...4,935,538
Ensembl chr10:101,204,500...101,205,146
Ensembl chr20:101,204,500...101,205,146 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,816,813...4,823,267
Ensembl chr20:4,816,815...4,828,773 		JBrowse link
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537 		JBrowse link
G Smim40 small integral membrane protein 40 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,976,304...4,989,078 JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5
ClinVar Annotator: match by OMIM:612621		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19196676 More... NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181 		JBrowse link
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,202,837...5,214,541
Ensembl chr20:5,202,837...5,214,164 		JBrowse link
G Vps52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,920,715...4,931,685
Ensembl chr20:4,860,843...4,931,665 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,937,845...4,945,796
Ensembl chr20:4,937,847...4,946,535 		JBrowse link
G Zbtb22 zinc finger and BTB domain containing 22 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,966,331...4,969,853
Ensembl chr20:4,966,271...4,969,498 		JBrowse link
G Zbtb9 zinc finger and BTB domain containing 9 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,057,433...5,060,459
Ensembl chr20:5,057,434...5,062,819 		JBrowse link
autosomal dominant non-syndromic intellectual disability 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:167,768,437...167,825,706
Ensembl chr 4:167,818,271...167,825,706 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:167,845,652...167,858,115
Ensembl chr 4:167,845,640...167,859,115 		JBrowse link
G Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,212,901...168,233,039
Ensembl chr 4:168,212,861...168,232,904 		JBrowse link
G Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,048,313...168,124,017
Ensembl chr 4:168,048,396...168,097,338 		JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:167,903,542...167,922,276
Ensembl chr 4:167,903,542...167,922,260 		JBrowse link
G Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:167,943,523...167,955,616
Ensembl chr 4:167,943,523...167,955,616 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
ClinVar Annotator: match by OMIM:613970		 OMIM
ClinVar		 PMID:9536098 PMID:16537520 PMID:17576681 PMID:18414213 PMID:20890276 More... NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:168,090,773...168,107,039
Ensembl chr 4:168,090,776...168,107,039 		JBrowse link
G Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28492532 PMID:28503605 NCBI chr 4:167,974,318...168,003,859
Ensembl chr 4:167,974,319...168,003,854 		JBrowse link
autosomal dominant non-syndromic intellectual disability 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7
ClinVar Annotator: match by OMIM:614104		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17237124 PMID:17576681 PMID:18414213 More... NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758 		JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,682,943...33,689,071
Ensembl chr11:33,682,948...33,689,321 		JBrowse link
G Ripply3 ripply transcriptional repressor 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975 		JBrowse link
G Vps26c VPS26 endosomal protein sorting factor C ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7 ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447 		JBrowse link
autosomal dominant non-syndromic intellectual disability 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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,770,385...7,778,994
Ensembl chr 3:7,770,379...7,778,982 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Fam166a family with sequence similarity 166, member A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8
ClinVar Annotator: match by OMIM:614254		 OMIM
ClinVar		 PMID:9536098 PMID:10197535 PMID:12451122 PMID:17576681 PMID:19264732 More... NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,415,087...9,415,159 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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,392,926...8,394,325 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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,050,353...8,052,861
Ensembl chr 3:8,051,475...8,051,945 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,100,595...8,101,643
Ensembl chr 3:8,100,590...8,101,643 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,037,844...8,040,294
Ensembl chr 3:8,037,799...8,040,296 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		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:19264732 PMID:27891178 PMID:28492532 NCBI chr 3:7,758,086...7,778,982
Ensembl chr 3:7,758,133...7,767,514 		JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
ClinVar Annotator: match by term: Clark-Baraitser syndrome		 ClinVar
OMIM		 PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 9:85,916,691...86,043,312
Ensembl chr 9:85,916,691...86,051,403 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO
ISS		 ClinVar Annotator: match by term: Coffin-Siris syndrome
OMIM:135900		 ClinVar
MouseDO		 PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
ClinVar Annotator: match by term: Coffin-Siris syndrome
DNA:frameshift,nonsense mutations, haploinsufficiency:cds:		 ClinVar
RGD		 PMID:18414213 PMID:24033266 PMID:25741868 PMID:24674232 RGD:11526783 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:28492532 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22426308 PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features		 ClinVar
OMIM		 PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 More... NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29174094 PMID:29429572 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
Coffin-Siris Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 10		 OMIM
ClinVar		 PMID:25741868 PMID:30661772 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
Coffin-Siris Syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 11		 OMIM
ClinVar		 PMID:30879640 NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323 		JBrowse link
Coffin-Siris Syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 12		 ClinVar
OMIM		 PMID:25741868 PMID:25741870 PMID:33232675 NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14
ClinVar Annotator: match by OMIM:614607		 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15
ClinVar Annotator: match by OMIM:614608		 OMIM
ClinVar		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 16
ClinVar Annotator: match by OMIM:614609		 OMIM
ClinVar		 PMID:10601012 PMID:18437052 PMID:22426308 PMID:23637025 PMID:24658001 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
Coffin-Siris Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Coffin-siris syndrome 5
ClinVar Annotator: match by term: Coffin-Siris syndrome 5		 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 6
ClinVar Annotator: match by term: Coffin-Siris syndrome 6		 ClinVar
OMIM		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512 		JBrowse link
Coffin-Siris Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 7
ClinVar Annotator: match by term: Coffin-Siris syndrome 7		 ClinVar
OMIM		 PMID:25741868 PMID:29174094 PMID:29429572 PMID:31207137 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
Coffin-Siris Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 8		 OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 27 ClinVar
OMIM		 PMID:24886874 PMID:25741868 PMID:32860008 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
Helsmoortel-Van Der Aa syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome
ClinVar Annotator: match by term: Helsmoortel-van der aa syndrome
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 28		 OMIM
ClinVar		 PMID:18414213 PMID:23160955 PMID:24531329 PMID:25057125 PMID:25169753 More... NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
Koolen de Vries syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf2 ADP-ribosylation factor 2 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:25741868 NCBI chr10:88,867,844...88,889,654
Ensembl chr10:88,867,836...88,889,659 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301783 PMID:22544363 More... NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome
ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome		 ClinVar PMID:26467025 PMID:28492532 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
NESCAV syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9
ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9
ClinVar Annotator: match by OMIM:614255		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21376300 PMID:25133958 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
Schuurs-Hoeijmakers syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Schuurs-hoeijmakers syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23159249 PMID:25326635 PMID:25356970 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
Vulto-van Silfout-de Vries syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 24
ClinVar Annotator: match by OMIM:615828		 OMIM
ClinVar		 PMID:11690625 PMID:21076407 PMID:23020937 PMID:24726472 PMID:25326635 More... NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
White-Sutton syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: White-sutton syndrome ClinVar PMID:25741868 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: White-sutton syndrome ClinVar PMID:25741868 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: White-sutton syndrome OMIM
ClinVar		 PMID:24463507 PMID:24896178 PMID:25533962 PMID:25741868 PMID:26077850 More... NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707 		JBrowse link
Xia-Gibbs syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Xia-Gibbs syndrome
ClinVar Annotator: match by OMIM:615829		 OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:24791903 PMID:25363768 PMID:25741868 More... NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Neurodevelopmental Disorders 5786
        intellectual disability 3518
          non-syndromic intellectual disability 425
            autosomal dominant non-syndromic intellectual disability 320
              Arboleda-Tham syndrome 1
              Autosomal Dominant Mental Retardation 57 2
              Autosomal Dominant Mental Retardation 58 1
              Autosomal Dominant Mental Retardation 59 1
              Autosomal Dominant Mental Retardation 60 1
              Autosomal Dominant Mental Retardation 61 2
              Autosomal Dominant Mental Retardation 62 1
              Autosomal Dominant Mental Retardation 63 with Macrocephaly 1
              Autosomal Dominant Mental Retardation 64 1
              Autosomal Dominant Mental Retardation 65 1
              Clark-Baraitser syndrome 1
              Coffin-Siris syndrome + 18
              Coffin-Siris syndrome 9 1
              Helsmoortel-Van Der Aa syndrome 1
              Koolen de Vries syndrome 3
              NESCAV syndrome 1
              Schuurs-Hoeijmakers syndrome 1
              Vulto-van Silfout-de Vries syndrome 1
              White-Sutton syndrome 3
              Xia-Gibbs syndrome 1
              autosomal dominant mental retardation 20 1
              autosomal dominant mental retardation 45 1
              autosomal dominant mental retardation 46 1
              autosomal dominant mental retardation 47 1
              autosomal dominant mental retardation 48 1
              autosomal dominant mental retardation 50 1
              autosomal dominant mental retardation 51 1
              autosomal dominant mental retardation 52 1
              autosomal dominant mental retardation 53 1
              autosomal dominant mental retardation 54 1
              autosomal dominant non-syndromic intellectual disability 1 10
              autosomal dominant non-syndromic intellectual disability 10 1
              autosomal dominant non-syndromic intellectual disability 11 1
              autosomal dominant non-syndromic intellectual disability 13 1
              autosomal dominant non-syndromic intellectual disability 18 9
              autosomal dominant non-syndromic intellectual disability 19 1
              autosomal dominant non-syndromic intellectual disability 2 1
              autosomal dominant non-syndromic intellectual disability 21 1
              autosomal dominant non-syndromic intellectual disability 22 1
              autosomal dominant non-syndromic intellectual disability 23 1
              autosomal dominant non-syndromic intellectual disability 26 2
              autosomal dominant non-syndromic intellectual disability 29 1
              autosomal dominant non-syndromic intellectual disability 3 1
              autosomal dominant non-syndromic intellectual disability 30 1
              autosomal dominant non-syndromic intellectual disability 31 103
              autosomal dominant non-syndromic intellectual disability 33 1
              autosomal dominant non-syndromic intellectual disability 34 1
              autosomal dominant non-syndromic intellectual disability 35 2
              autosomal dominant non-syndromic intellectual disability 36 1
              autosomal dominant non-syndromic intellectual disability 38 1
              autosomal dominant non-syndromic intellectual disability 39 1
              autosomal dominant non-syndromic intellectual disability 4 1
              autosomal dominant non-syndromic intellectual disability 40 1
              autosomal dominant non-syndromic intellectual disability 41 1
              autosomal dominant non-syndromic intellectual disability 42 1
              autosomal dominant non-syndromic intellectual disability 43 1
              autosomal dominant non-syndromic intellectual disability 44 1
              autosomal dominant non-syndromic intellectual disability 5 26
              autosomal dominant non-syndromic intellectual disability 6 10
              autosomal dominant non-syndromic intellectual disability 7 9
              autosomal dominant non-syndromic intellectual disability 8 72
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  intellectual disability 3518
                    non-syndromic intellectual disability 425
                      autosomal dominant non-syndromic intellectual disability 320
                        Arboleda-Tham syndrome 1
                        Autosomal Dominant Mental Retardation 57 2
                        Autosomal Dominant Mental Retardation 58 1
                        Autosomal Dominant Mental Retardation 59 1
                        Autosomal Dominant Mental Retardation 60 1
                        Autosomal Dominant Mental Retardation 61 2
                        Autosomal Dominant Mental Retardation 62 1
                        Autosomal Dominant Mental Retardation 63 with Macrocephaly 1
                        Autosomal Dominant Mental Retardation 64 1
                        Autosomal Dominant Mental Retardation 65 1
                        Clark-Baraitser syndrome 1
                        Coffin-Siris syndrome + 18
                        Coffin-Siris syndrome 9 1
                        Helsmoortel-Van Der Aa syndrome 1
                        Koolen de Vries syndrome 3
                        NESCAV syndrome 1
                        Schuurs-Hoeijmakers syndrome 1
                        Vulto-van Silfout-de Vries syndrome 1
                        White-Sutton syndrome 3
                        Xia-Gibbs syndrome 1
                        autosomal dominant mental retardation 20 1
                        autosomal dominant mental retardation 45 1
                        autosomal dominant mental retardation 46 1
                        autosomal dominant mental retardation 47 1
                        autosomal dominant mental retardation 48 1
                        autosomal dominant mental retardation 50 1
                        autosomal dominant mental retardation 51 1
                        autosomal dominant mental retardation 52 1
                        autosomal dominant mental retardation 53 1
                        autosomal dominant mental retardation 54 1
                        autosomal dominant non-syndromic intellectual disability 1 10
                        autosomal dominant non-syndromic intellectual disability 10 1
                        autosomal dominant non-syndromic intellectual disability 11 1
                        autosomal dominant non-syndromic intellectual disability 13 1
                        autosomal dominant non-syndromic intellectual disability 18 9
                        autosomal dominant non-syndromic intellectual disability 19 1
                        autosomal dominant non-syndromic intellectual disability 2 1
                        autosomal dominant non-syndromic intellectual disability 21 1
                        autosomal dominant non-syndromic intellectual disability 22 1
                        autosomal dominant non-syndromic intellectual disability 23 1
                        autosomal dominant non-syndromic intellectual disability 26 2
                        autosomal dominant non-syndromic intellectual disability 29 1
                        autosomal dominant non-syndromic intellectual disability 3 1
                        autosomal dominant non-syndromic intellectual disability 30 1
                        autosomal dominant non-syndromic intellectual disability 31 103
                        autosomal dominant non-syndromic intellectual disability 33 1
                        autosomal dominant non-syndromic intellectual disability 34 1
                        autosomal dominant non-syndromic intellectual disability 35 2
                        autosomal dominant non-syndromic intellectual disability 36 1
                        autosomal dominant non-syndromic intellectual disability 38 1
                        autosomal dominant non-syndromic intellectual disability 39 1
                        autosomal dominant non-syndromic intellectual disability 4 1
                        autosomal dominant non-syndromic intellectual disability 40 1
                        autosomal dominant non-syndromic intellectual disability 41 1
                        autosomal dominant non-syndromic intellectual disability 42 1
                        autosomal dominant non-syndromic intellectual disability 43 1
                        autosomal dominant non-syndromic intellectual disability 44 1
                        autosomal dominant non-syndromic intellectual disability 5 26
                        autosomal dominant non-syndromic intellectual disability 6 10
                        autosomal dominant non-syndromic intellectual disability 7 9
                        autosomal dominant non-syndromic intellectual disability 8 72
paths to the root