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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal dominant non-syndromic intellectual disability
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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 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant ClinVar NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISS MouseDO NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238 		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:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant ClinVar NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250 		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 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISS MouseDO NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236 		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: 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 PMID:27133397 PMID:28492532 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005 		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:18414213 PMID:19592390 PMID:19876902 PMID:20333642 PMID:20513142 PMID:22031302 PMID:23001426 PMID:24088041 PMID:25741868 PMID:25741869 PMID:26633545 PMID:27255693 PMID:27748065 PMID:28492532 PMID:28554332 PMID:29706646 PMID:30376817 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787 		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 NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005 		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:28669405 NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733 		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 8:108,958,099...109,342,738
Ensembl chr 8:108,958,046...109,342,738 		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 chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873 		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
OMIM		 PMID:23665959 PMID:25741868 PMID:26785492 PMID:28191889 PMID:28492532 PMID:28990276 PMID:29656860 NCBI chr 2:140,471,437...140,534,259
Ensembl chr 2:140,471,690...140,534,259 		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 NCBI chr 1:219,000,844...219,050,211
Ensembl chr 1:219,000,844...219,050,211 		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 2:188,252,592...188,389,251
Ensembl chr 2:188,253,220...188,389,250 		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 PMID:29560374 NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869 		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 chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652 		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 chr10:93,520,272...93,581,599
Ensembl chr10:93,520,132...93,581,296 		JBrowse link
G Tlk2 tousled-like kinase 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 ClinVar
OMIM		 PMID:25741868 PMID:25741869 PMID:27479843 PMID:28492532 PMID:29861108 NCBI chr10:93,410,181...93,507,277
Ensembl chr10:93,415,399...93,507,277 		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
OMIM		 PMID:11231286 PMID:25356899 PMID:25741868 PMID:27775603 PMID:28135719 PMID:29688601 NCBI chr19:58,420,635...58,422,153
Ensembl chr19:58,419,961...58,421,504 		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 OMIM NCBI chr15:3,936,721...3,995,740
Ensembl chr15:3,936,786...3,995,915 		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 OMIM
ClinVar		 PMID:25741868 PMID:31104773 NCBI chr11:84,041,184...84,047,542
Ensembl chr11:84,041,184...84,047,546 		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 OMIM
ClinVar		 PMID:25741868 PMID:29740699 NCBI chr10:73,702,327...73,787,084
Ensembl chr10:73,702,327...73,787,083 		JBrowse link
G Wdr1 WD repeat domain 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 61 ClinVar PMID:29740699 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726 		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
OMIM		 PMID:25741868 PMID:26350515 PMID:27479843 PMID:29460436 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599 		JBrowse link
Autosomal Dominant Mental Retardation 63 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 OMIM
ClinVar		 PMID:25741868 PMID:27418539 PMID:28796471 PMID:32109419 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481 		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 3:32,947,901...33,034,598
Ensembl chr 3:32,947,378...33,034,282 		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 3:28,626,987...29,236,225
Ensembl chr 3:28,627,084...29,236,219 		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 3:33,641,616...33,741,219
Ensembl chr 3:33,641,616...33,740,461 		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 3:29,410,426...29,705,981
Ensembl chr 3:29,410,426...29,705,985 		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 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928 		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 3:25,201,194...27,348,126 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		 PMID:17847001 PMID:19809484 PMID:19904302 PMID:21981781 PMID:22726846 PMID:23055267 PMID:23422940 PMID:23587880 PMID:23632792 PMID:24885232 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27222293 PMID:28008202 PMID:28492532 PMID:29655203 PMID:30311386 PMID:32238909, PMID:26942102 RGD:11554204 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238 		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 3:33,034,913...33,075,833
Ensembl chr 3:33,037,034...33,075,685 		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 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865 		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 NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605 		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 3:152,492,725...152,622,047
Ensembl chr 3:152,552,822...152,619,722 		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:21076407 PMID:22368300 PMID:23603762 PMID:24136616 PMID:25140959 PMID:25326635 PMID:25326637 PMID:25609763 PMID:25741868 PMID:25741869 PMID:26378787 PMID:26467025 PMID:28492532 PMID:29706646 PMID:32238909 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769 		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 2:189,596,657...189,602,243
Ensembl chr 2:189,595,415...189,602,143 		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 2:189,615,928...189,625,646
Ensembl chr 2:189,615,948...189,626,051 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:189,626,922...189,642,732
Ensembl chr 2:189,629,297...189,642,183 		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:28191890 PMID:30346093 PMID:31205050 PMID:31949314 NCBI chr 2:189,654,871...189,735,056
Ensembl chr 2:189,655,702...189,733,540 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:189,591,707...189,595,926
Ensembl chr 2:189,591,780...189,596,421 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:189,453,932...189,571,918
Ensembl chr 2:189,454,340...189,571,529 		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 2:189,581,209...189,586,358
Ensembl chr 2:189,581,644...189,586,338 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18 ClinVar PMID:21681106 NCBI chr 2:189,572,175...189,573,280
Ensembl chr 2:189,572,176...189,573,280 		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 2:189,609,766...189,615,367
Ensembl chr 2:189,609,800...189,615,366 		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 PMID:24668549 PMID:25326635 PMID:25326637 PMID:25326669 PMID:25741868 PMID:27915094 PMID:27959697 PMID:28514307 PMID:28575650 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372 		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 OMIM NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465 		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
ClinVar Annotator: match by OMIM:615502		 OMIM
ClinVar		 PMID:23746550 PMID:25741868 PMID:28492532 PMID:29076501 PMID:31239556 NCBI chr19:37,600,151...37,649,674
Ensembl chr19:37,600,148...37,649,673 		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 PMID:28283832 PMID:29573576 NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236 		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 NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245 		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 PMID:25741868 PMID:25741869 PMID:28492532 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 26 ClinVar PMID:25741868 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908 		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 PMID:25741868 PMID:28346496 PMID:31680123 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306 		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:19012874 PMID:25741868 PMID:28492532 NCBI chr19:55,669,661...55,689,986
Ensembl chr19:55,669,626...55,689,992 		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:28708303 NCBI chr17:63,825,616...63,914,740
Ensembl chr17:63,825,627...63,879,171 		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 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 PMID:25741869 PMID:27148565 PMID:28448108 PMID:28492532 PMID:28600779 PMID:29097605 PMID:29619234 PMID:32238909 PMID:32581362 PMID:32860008 NCBI chr18:29,104,712...29,114,918
Ensembl chr18:29,110,242...29,111,156 		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 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307 		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 2:27,365,145...27,469,797
Ensembl chr 2:27,365,148...27,469,779 		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 PMID:25972378 PMID:26168268 PMID:26576547 PMID:28492532 PMID:28867141 PMID:30676711 NCBI chr 9:16,610,312...16,614,153
Ensembl chr 9:16,610,315...16,612,136 		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 PMID:25972378 PMID:26168268 PMID:26576547 PMID:28492532 PMID:28867141 PMID:30676711 NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631 		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: Mental retardation, autosomal dominant 36 OMIM
ClinVar		 PMID:24728327 PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 NCBI chr 1:60,717,386...60,736,629
Ensembl chr 1:60,717,386...60,736,609 		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:24697219 PMID:25741868 PMID:26682508 PMID:26795593 PMID:27441201 PMID:28492532 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282 		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 6:48,452,385...48,843,443
Ensembl chr 6:48,452,369...48,857,936 		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 8:35,692,525...36,254,755
Ensembl chr 8:36,125,999...36,254,753 		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:25741869 PMID:26340335 PMID:26751395 PMID:27148580 NCBI chr16:80,839,373...80,850,340
Ensembl chr16:80,839,374...80,850,340 		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 PMID:30365874 NCBI chr 2:107,221,913...107,359,229
Ensembl chr 2:107,233,054...107,359,229 		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:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27759915 PMID:30194818 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986 		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:25741868 PMID:26153216 PMID:27003583 NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885 		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:18388777 PMID:23033978 PMID:24038936 PMID:25741868 PMID:26721934 PMID:27418539 PMID:28796471 PMID:32109419 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481 		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 chr20:5,446,104...5,447,679
Ensembl chr20:5,446,104...5,447,673 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260 		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 chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018 		JBrowse link
G Cuta cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,532,024...5,533,640
Ensembl chr20:5,532,024...5,533,620 		JBrowse link
G Daxx death-domain associated protein ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926 		JBrowse link
G Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:3,817,212...3,819,316
Ensembl chr20:3,817,179...3,819,235 		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 chr20:5,645,894...5,711,702
Ensembl chr20:5,646,097...5,711,702 		JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,509,059...5,526,175
Ensembl chr20:5,509,059...5,526,175 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:3,816,158...3,816,267
Ensembl chr20:3,816,158...3,816,267 		JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,455,974...5,457,448
Ensembl chr20:5,455,974...5,457,444 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,526,926...5,531,940
Ensembl chr20:5,526,961...5,531,941 		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 chr20:5,458,509...5,466,853
Ensembl chr20:5,458,509...5,466,265 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:3,812,287...3,815,834
Ensembl chr20:3,812,287...3,815,834 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,441,875...5,445,553
Ensembl chr20:5,441,876...5,445,553 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:3,822,673...3,829,138
Ensembl chr20:3,823,042...3,829,140 		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 chr20:3,819,416...3,822,788
Ensembl chr20:3,819,414...3,822,778 		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:18414213 PMID:19196676 PMID:20683986 PMID:21237447 PMID:23161826 PMID:23687080 PMID:23708187 PMID:24690944 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25418537 PMID:25741868 PMID:26079862 PMID:26467025 PMID:26795593 PMID:26989088 PMID:27159028 PMID:27334371 PMID:28492532 PMID:28554332 PMID:28708303 PMID:30311386 PMID:30541864 PMID:32238909 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,468,056...5,476,007
Ensembl chr20:5,468,078...5,476,193 		JBrowse link
G Vps52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,431,997...5,441,736
Ensembl chr20:5,432,004...5,441,706 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,447,860...5,455,632
Ensembl chr20:5,447,860...5,455,632 		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 chr20:5,476,345...5,479,900
Ensembl chr20:5,476,345...5,479,511 		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 chr20:5,566,517...5,569,535
Ensembl chr20:5,566,531...5,569,533 		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 4:168,752,142...168,755,024
Ensembl chr 4:168,752,133...168,755,023 		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 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964 		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 4:168,775,134...168,787,594
Ensembl chr 4:168,775,111...168,787,730 		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 4:169,161,076...169,181,967
Ensembl chr 4:169,147,243...169,181,966 		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 4:168,976,797...169,052,750
Ensembl chr 4:168,976,859...169,019,561 		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 4:168,832,937...168,851,650
Ensembl chr 4:168,832,910...168,851,652 		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 4:168,872,897...168,884,925
Ensembl chr 4:168,872,897...168,884,886 		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:16537520 PMID:18414213 PMID:20890276 PMID:23160955 PMID:23408766 PMID:23918416 PMID:24272827 PMID:25326635 PMID:25326637 PMID:25356899 PMID:25741868 PMID:25741869 PMID:26350515 PMID:26467025 PMID:27572814 PMID:27616045 PMID:27656287 PMID:27818011 PMID:27839871 PMID:28191890 PMID:28283559 PMID:28377535 PMID:28440294 PMID:28492532 PMID:28503605 PMID:28554332 PMID:28708303 PMID:28856709 PMID:30217972 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873 		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 4:169,020,680...169,037,021
Ensembl chr 4:169,020,683...169,036,950 		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 4:168,903,586...168,933,102
Ensembl chr 4:168,903,565...168,933,079 		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 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:17237124 PMID:18414213 PMID:21204217 PMID:21294719 PMID:23099646 PMID:23160955 PMID:23512985 PMID:24033266 PMID:24088041 PMID:25167861 PMID:25326635 PMID:25533962 PMID:25641759 PMID:25707398 PMID:25741868 PMID:25920557 PMID:25944381 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26922654 PMID:27241786 PMID:28053047 PMID:28191890 PMID:28492532 PMID:28708303 PMID:29034068 PMID:30311386 PMID:30619508 PMID:32581362 PMID:32860008 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536 		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:28492532 NCBI chr 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,799,032...2,806,686
Ensembl chr 3:2,800,650...2,803,574 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,724,616...2,727,616
Ensembl chr 3:2,724,616...2,727,616 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,832,893...2,843,050
Ensembl chr 3:2,832,847...2,841,331 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,675,732...2,678,248
Ensembl chr 3:2,676,296...2,680,565 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:4,083,797...4,091,550
Ensembl chr 3:4,083,864...4,092,289 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239 		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:28492532 NCBI chr 3:2,569,135...2,573,387
Ensembl chr 3:2,569,135...2,573,387 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,781,169...2,785,474
Ensembl chr 3:2,781,169...2,785,474 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:4,034,759...4,044,280
Ensembl chr 3:4,034,921...4,043,936 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,726,705...2,731,213
Ensembl chr 3:2,727,254...2,731,212 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,637,281...2,646,497
Ensembl chr 3:2,642,531...2,646,648 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359 		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:10197535 PMID:12451122 PMID:20716669 PMID:21376300 PMID:22246434 PMID:24088041 PMID:25008524 PMID:25326635 PMID:25741868 PMID:25864721 PMID:26350515 PMID:26467025 PMID:26633542 PMID:26633545 PMID:27159321 PMID:27164704 PMID:28051072 PMID:28228639 PMID:28492532 PMID:30355546 PMID:30776697 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,894,702...2,898,255
Ensembl chr 3:2,894,702...2,898,254 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,716,547...2,719,135
Ensembl chr 3:2,716,534...2,719,513 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,888,103...2,893,498
Ensembl chr 3:2,888,103...2,893,495 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,871,890...2,875,682
Ensembl chr 3:2,872,031...2,875,015 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,786,523...2,795,109
Ensembl chr 3:2,786,523...2,795,109 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049 		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:28492532 NCBI chr 3:4,042,488...4,042,560 JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,624,231...2,630,672
Ensembl chr 3:2,625,015...2,630,670 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,678,987...2,681,668
Ensembl chr 3:2,678,956...2,680,622 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,797,037...2,798,436
Ensembl chr 3:2,796,997...2,798,470 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,806,777...2,832,697
Ensembl chr 3:2,806,777...2,832,697 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,590,355...2,597,283
Ensembl chr 3:2,591,331...2,596,583 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,843,635...2,845,593
Ensembl chr 3:2,843,635...2,845,593 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,746,061...2,770,690
Ensembl chr 3:2,746,075...2,770,620 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:2,579,250...2,584,523
Ensembl chr 3:2,579,258...2,584,523 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215 		JBrowse link
Clark-Baraitser syndrome 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: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481 		JBrowse link
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 PMID:28660352 PMID:31814248 NCBI chr 9:92,305,059...92,435,388
Ensembl chr 9:92,305,051...92,435,365 		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 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636 		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 PMID:18414213 PMID:24033266 PMID:25741868, PMID:24674232 RGD:11526783 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:196,838,460...196,854,192
Ensembl chr 1:196,839,321...196,854,180 		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 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706 		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:18414213 PMID:24728327 PMID:25741868 PMID:26353884 PMID:27701467 PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468 		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 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931 		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 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636 		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 PMID:22426309 PMID:23815551 PMID:23906836 PMID:23929686 PMID:25326635 PMID:25473036 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:27474218 PMID:27570168 PMID:28323383 PMID:28454995 PMID:28492532 PMID:28708303 PMID:31132234 PMID:32860008 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042 		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 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706 		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 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468 		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 OMIM
ClinVar		 PMID:25741868 PMID:30661772 NCBI chr17:37,615,022...37,619,728 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 OMIM
ClinVar		 PMID:30879640 NCBI chr 7:141,355,623...141,366,725
Ensembl chr 7:141,355,994...141,366,732 		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 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 NCBI chr 1:87,078,012...87,147,347
Ensembl chr 1:87,078,020...87,147,333 		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 PMID:23906836 PMID:23929686 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:30123105 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636 		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 chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931 		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:22426308 PMID:23637025 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468 		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 NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965 		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
OMIM		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655 		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
OMIM		 PMID:25741868 PMID:29429572 NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042 		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 OMIM
ClinVar		 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 NCBI chr 7:2,875,898...2,905,463
Ensembl chr 7:2,875,909...2,904,453 		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 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983 		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 PMID:25217958 PMID:25363760 PMID:25533962 PMID:25741868 PMID:27031564 PMID:28221363 PMID:28492532 PMID:28708303 PMID:29475819 PMID:29724491 PMID:29911927 PMID:30311386 PMID:31029150 NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702 		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 chr10:92,018,562...92,040,335
Ensembl chr10:92,018,562...92,040,333 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome
ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome		 ClinVar
OMIM		 PMID:20301783 PMID:22544363 PMID:22544367 PMID:24056718 PMID:24088041 PMID:25326635 PMID:25741868 PMID:25741877 PMID:26306646 PMID:26424144 PMID:26467025 PMID:26633545 PMID:28211987 PMID:28492532 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109 		JBrowse link
G Kansl1l KAT8 regulatory NSL complex subunit 1-like ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:25741868 NCBI chr 9:73,710,959...73,819,335
Ensembl chr 9:73,713,430...73,799,427 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome ClinVar PMID:26467025 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517 		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: Mental retardation, autosomal dominant 9
ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT
ClinVar Annotator: match by OMIM:614255		 OMIM
ClinVar		 PMID:18414213 PMID:21376300 PMID:25253658 PMID:25265257 PMID:25326635 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26354034 PMID:26467025 PMID:26486474 PMID:27034427 PMID:27124789 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28834584 PMID:29590070 PMID:30311386 PMID:30385166 PMID:30564185 PMID:31805580 PMID:32096284 PMID:32860008 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609 		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:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:29550517 PMID:30113927 PMID:30311386 PMID:30588754 PMID:30690871 PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636 		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 PMID:25741868 PMID:26048982 PMID:26467025 PMID:28213671 PMID:28940898 PMID:30923367 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466 		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 chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: White-sutton syndrome ClinVar PMID:25741868 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: White-sutton syndrome OMIM
ClinVar		 PMID:25533962 PMID:25741868 PMID:26739615 PMID:26763879 PMID:26942287 PMID:27148570 PMID:28492532 PMID:28708303 NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497 		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:25741868 PMID:25741869 PMID:31474318 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4657
        intellectual disability 2190
          non-syndromic intellectual disability 268
            autosomal dominant non-syndromic intellectual disability 175
              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 1
              Clark-Baraitser syndrome 2
              Coffin-Siris syndrome + 15
              Coffin-Siris syndrome 9 1
              Helsmoortel-Van Der Aa syndrome 1
              Koolen de Vries syndrome 4
              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 1
              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 22
              autosomal dominant non-syndromic intellectual disability 6 10
              autosomal dominant non-syndromic intellectual disability 7 1
              autosomal dominant non-syndromic intellectual disability 8 46
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    non-syndromic intellectual disability 268
                      autosomal dominant non-syndromic intellectual disability 175
                        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 1
                        Clark-Baraitser syndrome 2
                        Coffin-Siris syndrome + 15
                        Coffin-Siris syndrome 9 1
                        Helsmoortel-Van Der Aa syndrome 1
                        Koolen de Vries syndrome 4
                        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 1
                        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 22
                        autosomal dominant non-syndromic intellectual disability 6 10
                        autosomal dominant non-syndromic intellectual disability 7 1
                        autosomal dominant non-syndromic intellectual disability 8 46
paths to the root