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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.


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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:15040442, PMID:16651658, PMID:17374998, PMID:19001415, PMID:19254709, PMID:19410540, PMID:19854944, PMID:19922872, PMID:21724834, PMID:22921202, PMID:23063713, PMID:23431171, PMID:24307508, PMID:24684905, PMID:25348405, PMID:25728775, PMID:25728777, PMID:25741868, PMID:26938784, PMID:27133397, PMID:27615324, 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: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:22542183, PMID:22604720, PMID:23020937, PMID:24896178, PMID:25741868, 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:12888564, 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:11994750, PMID:25741868, PMID:29100083, 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 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:8643598, PMID:22495306, PMID:23033978, PMID:24038936, PMID:25363760, PMID:25533962, PMID:25741868, PMID:26721934, PMID:27418539, PMID:28796471, PMID:28928363, 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 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 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:1999432, PMID:2614104, PMID:8227220, PMID:8582267, PMID:9060476, PMID:11719191, PMID:15713948, PMID:15866163, PMID:15866164, PMID:18334222, PMID:18414213, PMID:21903672, PMID:22110128, PMID:22495309, PMID:22682243, PMID:23033978, PMID:23499309, PMID:24033266, PMID:24431282, PMID:24614104, PMID:24668549, PMID:25326635, PMID:25326637, PMID:25326669, PMID:25533962, PMID:25741868, PMID:27915094, 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:9568537, PMID:9756912, PMID:10567577, PMID:11179890, PMID:11350943, PMID:11854316, PMID:14681759, PMID:17447250, PMID:17668379, PMID:19409883, PMID:20059953, PMID:20382278, PMID:20672375, PMID:21800092, PMID:21934713, PMID:22095278, PMID:22234186, PMID:22513377, PMID:22678713, PMID:23020937, PMID:23494996, PMID:24193349, PMID:24614070, PMID:25131622, PMID:25741868, PMID:26740508, PMID:27598823, 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:7477409, PMID:10699187, PMID:11390661, PMID:12130538, PMID:12540855, PMID:12805229, PMID:14681479, PMID:15774718, PMID:16086857, PMID:16919862, PMID:17013555, PMID:17100993, PMID:17151600, PMID:18414213, PMID:19760623, PMID:21082655, PMID:22495311, PMID:22965684, PMID:22986149, PMID:23020937, PMID:23613140, PMID:24680889, PMID:25138099, PMID:25741868, PMID:26482601, PMID:27334371, PMID:27375234, PMID:28866611, PMID:28881385 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: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:16565076, PMID:22847950, PMID:23372760, PMID:24267886, PMID:24590075, PMID:24963723, PMID:25217958, PMID:25281490, 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:1706516, PMID:12972605, PMID:17698009, PMID:18266931, PMID:19182532, PMID:19854944, PMID:21594995, PMID:22711443, PMID:23950017, PMID:24033266, PMID:25342064, PMID:25439098, PMID:25741868, PMID:25741869, PMID:26582469, PMID:27148565, PMID:28164378, PMID:28448108, PMID:28486374, PMID:28492532, PMID:28600779, PMID:29097605, PMID:29150892, 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
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 34 ClinVar PMID:25741868 NCBI chr 2:27,305,718...27,364,906
Ensembl chr 2:27,305,728...27,364,906
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:8703017, PMID:18414213, PMID:20017541, PMID:23033978, PMID:24896178, PMID:25533962, PMID:25741868, PMID:25741882, PMID:25972378, PMID:26168268, PMID:26576547, PMID:28492532, 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:8703017, PMID:18414213, PMID:20017541, PMID:23033978, PMID:24896178, PMID:25533962, PMID:25741868, PMID:25741882, PMID:25972378, PMID:26168268, PMID:26576547, PMID:28492532, 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:9989501, PMID:24466300, PMID:24728327, PMID:25533962, PMID:25741868, PMID:26168268, PMID:26619011, PMID:28135719, 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:19636410, PMID:19909265, PMID:23033978, PMID:23647072, PMID:24697219, PMID:25741868, PMID:26682508, PMID:26740508, PMID:26795593, PMID:27441201, PMID:28378778, PMID:28492532, PMID:28911200, PMID:30311386 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:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:27759915, PMID:28087732, 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:8643598, PMID:18388777, PMID:22495306, PMID:23033978, PMID:24038936, PMID:25363760, PMID:25533962, PMID:25741868, PMID:26721934, PMID:27418539, PMID:28796471, PMID:28928363, 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:15312654, PMID:18414213, PMID:19196676, PMID:20531469, PMID:20683986, PMID:21237447, PMID:21376300, PMID:22604720, PMID:23020937, PMID:23033978, PMID:23141534, PMID:23161826, PMID:23687080, PMID:23708187, PMID:23934111, PMID:24267886, PMID:24690944, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25356970, PMID:25418537, PMID:25533962, PMID:25741868, PMID:26079862, PMID:26467025, PMID:26795593, PMID:26989088, PMID:27159028, PMID:27334371, PMID:27827368, PMID:28492532, PMID:28554332, PMID:28576131, 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:17357078, PMID:18414213, PMID:20890276, PMID:21572417, PMID:22796429, PMID:22833210, PMID:23033978, PMID:23160955, PMID:23408766, PMID:23718928, PMID:23918416, PMID:23933819, PMID:23933820, PMID:23934111, PMID:24126926, PMID:24267886, PMID:24272827, PMID:24999380, PMID:25326635, PMID:25326637, PMID:25356899, PMID:25741868, PMID:25741869, PMID:26350515, PMID:26467025, PMID:27572814, PMID:27605359, PMID:27616045, PMID:27656287, PMID:27818011, PMID:27839871, PMID:28283559, PMID:28377535, PMID:28440294, PMID:28492532, PMID:28503605, PMID:28554332, PMID:28708303, PMID:28856709 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:2143053, PMID:12192061, PMID:12814361, PMID:17237124, PMID:18364031, PMID:18405873, PMID:18414213, PMID:19383720, PMID:19685005, PMID:21204217, PMID:21294719, PMID:22918246, 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: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:1834949, PMID:2516786, PMID:6306230, PMID:7679115, PMID:9526012, PMID:16402093, PMID:16600850, PMID:16635252, PMID:17315208, PMID:17910072, PMID:19854944, PMID:20890276, PMID:21376300, PMID:22606296, PMID:22796429, PMID:22974439, PMID:23933818, PMID:23934111, PMID:23937349, PMID:24088041, PMID:25167861, PMID:25326635, PMID:25741868, PMID:25838242, PMID:25864721, PMID:26350515, PMID:26467025, PMID:26633542, PMID:26633545, PMID:27159321, PMID:27164704, PMID:28051072, PMID:28228639, PMID:28389307, 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 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:6499251, PMID:11170086, PMID:15057123, PMID:16691594, PMID:18414213, PMID:20086098, PMID:21801163, PMID:22405089, PMID:22426308, PMID:22426309, PMID:23906836, PMID:23929686, PMID:24267886, PMID:24569609, PMID:24674232, PMID:25169814, PMID:25326635, PMID:25363768, PMID:25674384, PMID:25741868, PMID:25741869, PMID:26350204, PMID:26376624, PMID:26395437, PMID:27389779, PMID:27570168, PMID:28323383, PMID:28492532, PMID:28708303, PMID:28867767, PMID:31132234 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: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 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
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:23815551, PMID:23906836, PMID:23929686, 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:20137775, PMID:22426308, PMID:23637025, PMID:23775540, PMID:23815551, PMID:23929686, PMID:24658001, PMID:25326635, PMID:25741868, PMID:28492532, PMID:28608987 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:25741868, PMID:26238514, PMID:28124119, 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:11013255, PMID:18414213, PMID:22495309, PMID:23160955, PMID:24531329, PMID:25057125, PMID:25169753, PMID:25217958, PMID:25363760, PMID:25533962, PMID:25741868, PMID:26637798, PMID:26845707, PMID:27031564, PMID:28191889, PMID:28221363, PMID:28492532, PMID:28708303, 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 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:24088041, PMID:25326635, PMID:25741868, PMID:25741877, PMID:26293599, 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 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:21487076, PMID:21820098, PMID:22258533, PMID:25253658, PMID:25265257, PMID:25326635, PMID:25585697, PMID:25741868, PMID:26077850, PMID:26125038, PMID:26354034, PMID:26410750, PMID:26467025, PMID:26486474, PMID:27034427, PMID:27124789, PMID:28332297, PMID:28362824, PMID:28492532, PMID:28554332, PMID:28708278, PMID:28708303, PMID:28834584, PMID:28835676, PMID:29590070, PMID:30311386, PMID:30385166, 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:9695949, PMID:23159249, PMID:25326635, PMID:25356970, PMID:25522177, PMID:25741868, PMID:25741881, PMID:26795593, PMID:26842493, PMID:26944241, PMID:27681385, PMID:28111752, PMID:28471432, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28975623, PMID:29550517, PMID:30113927, PMID:30311386, 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:9862965, PMID:22495311, PMID:22542183, PMID:23375656, PMID:24267886, PMID:24463507, PMID:24896178, PMID:25533962, PMID:25694107, PMID:25741868, PMID:26739615, PMID:26763879, PMID:26942287, PMID:27148570, PMID:28480548, 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 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 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          non-syndromic intellectual disability 261
            autosomal dominant non-syndromic intellectual disability 169
              Arboleda-Tham syndrome 1
              Autosomal Dominant Mental Retardation 57 1
              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 + 12
              Coffin-Siris syndrome 9 1
              Helsmoortel-Van Der Aa syndrome 1
              Koolen de Vries syndrome 2
              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 9
              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 2
              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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    non-syndromic intellectual disability 261
                      autosomal dominant non-syndromic intellectual disability 169
                        Arboleda-Tham syndrome 1
                        Autosomal Dominant Mental Retardation 57 1
                        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 + 12
                        Coffin-Siris syndrome 9 1
                        Helsmoortel-Van Der Aa syndrome 1
                        Koolen de Vries syndrome 2
                        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 9
                        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 2
                        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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.