autosomal dominant intellectual developmental disorder - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	autosomal dominant intellectual developmental disorder	go back to main search page
Accession:	DOID:0060307	browse the term
Definition:	A intellectual disability characterized by an autosomal dominant inheritance pattern. (DO)
Synonyms:	exact_synonym:	autosomal dominant mental retardation; autosomal dominant non-syndromic intellectual disability; autosomal dominant non-syndromic mental retardation
	xref:	GARD:12107; MIM:PS156200; ORDO:178469

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Genes (418)

autosomal dominant intellectual developmental disorder

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activator of transcription and developmental regulator AUTS2

ISO

NCBI chrNW_004624740:10,339,411...11,463,292
Ensembl chrNW_004624740:10,341,274...10,367,075

G

capicua transcriptional repressor

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624907:458,447...486,482
Ensembl chrNW_004624907:454,948...486,565

G

clathrin heavy chain

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624871:1,439,975...1,507,514
Ensembl chrNW_004624871:1,439,838...1,510,911

G

casein kinase 2 beta

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624754:24,533,134...24,538,233

G

DEAF1 transcription factor

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624766:21,799,282...21,832,267
Ensembl chrNW_004624766:21,799,119...21,833,631

G

G protein subunit beta 1

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433

G

glutamate ionotropic receptor NMDA type subunit 2B

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624752:24,008,520...24,480,834
Ensembl chrNW_004624752:24,135,487...24,459,288

G

jumonji and AT-rich interaction domain containing 2

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624756:10,932,148...11,079,609
Ensembl chrNW_004624756:10,933,717...11,199,077

G

potassium voltage-gated channel subfamily Q member 5

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624819:6,886,328...7,365,537
Ensembl chrNW_004624819:6,889,658...7,365,537

G

kinesin family member 1A

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

PMID:25741868 PMID:27034427

NCBI chrNW_004624847:4,961,552...5,035,125
Ensembl chrNW_004624847:4,961,552...5,035,061

G

methyl-CpG binding domain protein 5

ISO

NCBI chrNW_004624866:1,003,279...1,162,545
Ensembl chrNW_004624866:1,105,616...1,162,288

G

DNA polymerase gamma, catalytic subunit

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

PMID:14745080 PMID:17980715 PMID:20185557 PMID:25741868 PMID:27538665 More...

NCBI chrNW_004624768:16,493,123...16,509,747
Ensembl chrNW_004624768:16,491,555...16,509,900

G

prickle planar cell polarity protein 2

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624888:1,537,080...1,825,955
Ensembl chrNW_004624888:1,537,138...1,821,215

G

transient receptor potential cation channel subfamily M member 3

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More...

NCBI chrNW_004624736:1,972,654...2,516,053
Ensembl chrNW_004624736:1,660,831...2,514,430

G

zinc finger and BTB domain containing 18

ISO

NCBI chrNW_004624771:15,425,610...15,432,012
Ensembl chrNW_004624771:15,425,604...15,430,542

G

zinc finger protein 292

ISO

ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability

NCBI chrNW_004624799:7,092,429...7,183,892
Ensembl chrNW_004624799:7,086,078...7,180,234

Arboleda-Tham syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine acetyltransferase 6A

ISO

ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies

PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More...

NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072

autosomal dominant intellectual developmental disorder 1

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 2A

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chrNW_004624866:539,967...619,575
Ensembl chrNW_004624866:539,894...620,302

G

Rho GTPase activating protein 15

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chrNW_004624732:42,865,010...43,482,670
Ensembl chrNW_004624732:42,865,128...43,481,731

G

cadherin 15

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1

NCBI chrNW_004624746:603,723...617,616
Ensembl chrNW_004624746:605,012...617,582

G

capicua transcriptional repressor

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1

NCBI chrNW_004624907:458,447...486,482
Ensembl chrNW_004624907:454,948...486,565

G

enhancer of polycomb homolog 2

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:19904302 PMID:21981781 PMID:23632792

NCBI chrNW_004624866:1,301,922...1,451,847
Ensembl chrNW_004624866:1,301,584...1,452,825

G

glycosyltransferase like domain containing 1

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chrNW_004624732:43,629,144...44,044,616
Ensembl chrNW_004624732:43,646,458...43,909,842

G

kinesin family member 5C

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:19904302 PMID:21981781 PMID:23632792

NCBI chrNW_004624866:1,526,647...1,698,113
Ensembl chrNW_004624866:1,526,638...1,698,301

G

kynureninase

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chrNW_004624732:42,627,789...42,751,037
Ensembl chrNW_004624732:42,627,715...42,753,165

G

LDL receptor related protein 1B

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chrNW_004624732:39,993,972...41,903,552
Ensembl chrNW_004624732:39,993,907...41,902,824

G

methyl-CpG binding domain protein 5

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder | ClinVar Annotator: match by term: MBD5-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847001 PMID:19809484 More...

NCBI chrNW_004624866:1,003,279...1,162,545
Ensembl chrNW_004624866:1,105,616...1,162,288

G

origin recognition complex subunit 4

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:19809484 PMID:19904302 PMID:21981781 PMID:23422940 PMID:23587880 More...

NCBI chrNW_004624866:626,556...716,725
Ensembl chrNW_004624866:622,859...716,787

G

TAO kinase 1

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1

NCBI chrNW_004624786:1,920,037...2,054,795
Ensembl chrNW_004624786:1,968,991...2,045,948

G

WD repeat and FYVE domain containing 3

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1

NCBI chrNW_004624900:1,785,397...2,106,455
Ensembl chrNW_004624900:1,788,338...2,008,811

G

zinc finger E-box binding homeobox 2

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997

G

zinc finger MYND-type containing 11

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1

NCBI chrNW_004624775:10,723,145...10,830,856
Ensembl chrNW_004624775:10,723,145...10,830,841

autosomal dominant intellectual developmental disorder 10

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel auxiliary subunit gamma 2

ISO

ClinVar Annotator: match by term: CACNG2-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 10

PMID:21376300 PMID:25741868 PMID:28492532

NCBI chrNW_004624752:11,062,059...11,172,357
Ensembl chrNW_004624752:11,062,002...11,170,406

autosomal dominant intellectual developmental disorder 11

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erythrocyte membrane protein band 4.1 like 1

ISO

ClinVar Annotator: match by term: EPB41L1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 11

PMID:11050113 PMID:19503082 PMID:21376300 PMID:25326635 PMID:25741868 More...

NCBI chrNW_004624842:3,265,880...3,443,535
Ensembl chrNW_004624842:3,265,880...3,459,412

autosomal dominant intellectual developmental disorder 13

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein cytoplasmic 1 heavy chain 1

ISO

ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13
ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13

PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21076407 More...

NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177

G

HIVEP zinc finger 2

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13

NCBI chrNW_004624753:11,263,701...11,446,887
Ensembl chrNW_004624753:11,383,280...11,447,934

G

mediator complex subunit 13

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13

NCBI chrNW_004624871:1,886,650...1,983,165
Ensembl chrNW_004624871:1,886,688...1,980,105

autosomal dominant intellectual developmental disorder 19

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin beta 1

ISO

ClinVar Annotator: match by term: CTNNB1-related syndromic intellectual disability | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS

PMID:2614104 PMID:10966653 PMID:18414213 PMID:23033978 PMID:24033266 More...

NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234

autosomal dominant intellectual developmental disorder 2

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dedicator of cytokinesis 8

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 2

NCBI chrNW_004624736:4,959,482...5,195,182
Ensembl chrNW_004624736:4,959,634...5,193,928

autosomal dominant intellectual developmental disorder 21

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCCTC-binding factor

ISO

ClinVar Annotator: match by term: CTCF-related disorder | ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

PMID:23746550 PMID:25533962 PMID:25741868 PMID:28135719 PMID:28191890 More...

NCBI chrNW_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203

G

glutamate ionotropic receptor NMDA type subunit 2A

ISO

ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

NCBI chrNW_004624824:7,128,169...7,513,360
Ensembl chrNW_004624824:7,137,909...7,507,910

G

kinesin family member 11

ISO

ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

NCBI chrNW_004624737:3,835,788...3,874,360

G

multiple PDZ domain crumbs cell polarity complex component

ISO

ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

NCBI chrNW_004624736:17,392,132...17,555,612
Ensembl chrNW_004624736:17,397,405...17,533,674

autosomal dominant intellectual developmental disorder 22

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger and BTB domain containing 18

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-related disorder

PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More...

NCBI chrNW_004624771:15,425,610...15,432,012
Ensembl chrNW_004624771:15,425,604...15,430,542

autosomal dominant intellectual developmental disorder 23

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SET domain containing 5

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 | ClinVar Annotator: match by term: SETD5-related disorder

PMID:16199547 PMID:18414213 PMID:23020937 PMID:24680889 PMID:25138099 More...

NCBI chrNW_004624731:4,098,137...4,170,889
Ensembl chrNW_004624731:4,098,091...4,172,555

autosomal dominant intellectual developmental disorder 26

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activator of transcription and developmental regulator AUTS2

ISO

ClinVar Annotator: match by term: AUTS2-related condition | ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26

PMID:9536098 PMID:17576681 PMID:21680558 PMID:21681106 PMID:22872102 More...

NCBI chrNW_004624740:10,339,411...11,463,292
Ensembl chrNW_004624740:10,341,274...10,367,075

G

lysine methyltransferase 2D

ISO

ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency

NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346

G

MYC binding protein 2

ISO

ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency

PMID:25741868 PMID:36200388

NCBI chrNW_004624751:23,048,373...23,355,510
Ensembl chrNW_004624751:23,048,404...23,355,510

G

ryanodine receptor 1

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26

PMID:1354642 PMID:6917943 PMID:9334205 PMID:9873004 PMID:11575529 More...

NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314

autosomal dominant intellectual developmental disorder 29

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SET binding protein 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 | ClinVar Annotator: match by term: SETBP1-related disorder

PMID:16199547 PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 More...

NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815

autosomal dominant intellectual developmental disorder 3

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin 15

ISO

ClinVar Annotator: match by term: CDH15-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 3

PMID:18414213 PMID:19012874 PMID:25741868 PMID:28492532

NCBI chrNW_004624746:603,723...617,616
Ensembl chrNW_004624746:605,012...617,582

autosomal dominant intellectual developmental disorder 30

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase plasma membrane Ca2+ transporting 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30

NCBI chrNW_004624750:16,990,288...17,103,279

G

zinc finger MYND-type containing 11

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 | ClinVar Annotator: match by term: ZMYND11-related condition

PMID:24463507 PMID:25217958 PMID:25281490 PMID:25741868 PMID:25741899 More...

NCBI chrNW_004624775:10,723,145...10,830,856
Ensembl chrNW_004624775:10,723,145...10,830,841

autosomal dominant intellectual developmental disorder 31

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amyloid beta precursor protein binding family B member 3

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,322,496...33,328,567
Ensembl chrNW_004624743:33,322,792...33,328,391

G

bromodomain containing 8

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:30,950,790...30,994,655
Ensembl chrNW_004624743:30,961,646...30,994,559

G

CD14 molecule

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922

G

cell division cycle 23

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,012,262...31,036,639
Ensembl chrNW_004624743:31,012,720...31,036,762

G

cell division cycle 25C

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,099,320...31,123,808
Ensembl chrNW_004624743:31,099,268...31,124,262

G

catenin alpha 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,512,481...31,700,340

G

CXXC finger protein 5

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,450,612...32,485,249
Ensembl chrNW_004624743:32,450,819...32,486,293

G

cysteine rich transmembrane module containing 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,965,075...33,011,472
Ensembl chrNW_004624743:32,965,527...33,011,361

G

diaphanous related formin 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624774:738,717...845,187
Ensembl chrNW_004624774:739,206...845,272

G

DnaJ heat shock protein family (Hsp40) member C18

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,214,111...32,239,323
Ensembl chrNW_004624743:32,217,570...32,239,369

G

DND microRNA-mediated repression inhibitor 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,421,810...33,424,515
Ensembl chrNW_004624743:33,421,810...33,424,635

G

endothelial cell surface expressed chemotaxis and apoptosis regulator

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,248,768...32,272,352
Ensembl chrNW_004624743:32,246,966...32,256,617

G

early growth response 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205

G

eukaryotic translation termination factor 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,280,547...31,313,086

G

family with sequence similarity 13 member B

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:30,772,973...30,852,503

G

GDNF family receptor alpha 3

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,079,591...31,095,595
Ensembl chrNW_004624743:31,074,302...31,096,301

G

histidyl-tRNA synthetase 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,424,705...33,435,767
Ensembl chrNW_004624743:33,423,342...33,435,721

G

histidyl-tRNA synthetase 2, mitochondrial

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,435,777...33,443,036
Ensembl chrNW_004624743:33,435,806...33,443,227

G

heparin binding EGF like growth factor

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,112,105...33,124,145
Ensembl chrNW_004624743:33,112,036...33,124,169

G

heterogeneous nuclear ribonucleoprotein A0

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624733:9,265,784...9,271,559
Ensembl chrNW_004624733:9,266,607...9,267,527

G

heat shock protein family A (Hsp70) member 9

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,324,085...31,345,681
Ensembl chrNW_004624743:31,324,085...31,345,695

G

IgA inducing protein

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,894,082...32,899,173

G

IK cytokine

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,400,359...33,413,993
Ensembl chrNW_004624743:33,400,459...33,413,993

G

lysine demethylase 3B

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,148,051...31,224,896
Ensembl chrNW_004624743:31,148,098...31,225,992

G

kinesin family member 20A

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:30,994,664...31,003,858
Ensembl chrNW_004624743:30,995,526...31,011,396

G

kelch like family member 3

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624733:9,299,217...9,413,390
Ensembl chrNW_004624733:9,299,229...9,413,469

G

leucine rich repeat transmembrane neuronal 2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,648,543...31,651,772
Ensembl chrNW_004624743:31,644,209...31,651,688

G

matrin 3

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,086,821...32,147,079
Ensembl chrNW_004624743:32,115,544...32,146,921

G

myotilin

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624733:9,131,051...9,160,813
Ensembl chrNW_004624733:9,130,399...9,160,908

G

marginal zone B and B1 cell specific protein

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,192,264...32,194,848
Ensembl chrNW_004624743:32,192,251...32,194,376

G

NADH:ubiquinone oxidoreductase subunit A2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,398,027...33,400,346
Ensembl chrNW_004624743:33,398,027...33,400,271

G

NME/NM23 family member 5

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:30,925,210...30,950,129
Ensembl chrNW_004624743:30,925,445...30,950,114

G

neuregulin 2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,620,025...32,810,990
Ensembl chrNW_004624743:32,620,295...32,810,391

G

poly(A) binding protein interacting protein 2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,152,007...32,171,111

G

protocadherin alpha subfamily C, 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624774:216,504...219,816

G

protocadherin beta 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624774:344,785...347,744
Ensembl chrNW_004624774:344,942...347,398

G

protocadherin beta 2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624774:377,247...382,096

G

protocadherin gamma subfamily B, 7

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624774:655,090...657,077

G

prefoldin subunit 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,012,920...33,083,776
Ensembl chrNW_004624743:33,012,922...33,083,654

G

polycystin 2 like 2, transient receptor potential cation channel

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:30,743,052...30,770,985
Ensembl chrNW_004624743:30,743,052...30,771,305

G

proline rich basic protein 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,195,026...32,199,784
Ensembl chrNW_004624743:32,196,485...32,199,499

G

pleckstrin and Sec7 domain containing 2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,572,976...32,616,922
Ensembl chrNW_004624743:32,573,044...32,616,864

G

purine rich element binding protein A

ISO

ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

PMID:9461080 PMID:12818205 PMID:19846792 PMID:23950017 PMID:24033266 More...

NCBI chrNW_004624743:32,878,677...32,888,650
Ensembl chrNW_004624743:32,884,552...32,885,517

G

receptor accessory protein 2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,226,744...31,233,030
Ensembl chrNW_004624743:31,226,825...31,235,343

G

SIL1 nucleotide exchange factor

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:31,709,989...32,015,770
Ensembl chrNW_004624743:31,708,423...31,935,257

G

solute carrier family 23 member 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,169,051...32,186,618
Ensembl chrNW_004624743:32,174,922...32,186,697

G

solute carrier family 25 member 2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624774:540,820...542,200
Ensembl chrNW_004624774:541,115...542,020

G

solute carrier family 35 member A4

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,331,276...33,333,192
Ensembl chrNW_004624743:33,331,326...33,332,300

G

solute carrier family 4 member 9

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,137,588...33,165,882
Ensembl chrNW_004624743:33,137,641...33,151,287

G

spermatogenesis associated 24

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,201,285...32,207,197
Ensembl chrNW_004624743:32,201,286...32,207,177

G

SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624733:9,556,024...10,080,703
Ensembl chrNW_004624733:9,556,763...10,080,703

G

steroid receptor RNA activator 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,314,878...33,322,297
Ensembl chrNW_004624743:33,315,236...33,321,795

G

stimulator of interferon response cGAMP interactor 1

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235

G

TATA-box binding protein associated factor 7

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624774:548,072...550,410
Ensembl chrNW_004624774:548,072...550,404

G

transmembrane and coiled-coil domains 6

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,383,047...33,398,774
Ensembl chrNW_004624743:33,382,973...33,401,509

G

ubiquitin conjugating enzyme E2 D2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:32,338,864...32,426,220
Ensembl chrNW_004624743:32,338,821...32,425,478

G

WD repeat domain 55

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,416,212...33,421,861
Ensembl chrNW_004624743:33,415,984...33,422,107

G

Wnt family member 8A

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:30,852,463...30,896,443
Ensembl chrNW_004624743:30,890,359...30,895,682

G

zinc finger matrin-type 2

ISO

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES

NCBI chrNW_004624743:33,444,432...33,451,490

autosomal dominant intellectual developmental disorder 33

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dipeptidyl peptidase like 6

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 33

PMID:23832105 PMID:25741868

NCBI chrNW_004624800:2,725,353...3,585,987
Ensembl chrNW_004624800:2,725,253...3,585,409

autosomal dominant intellectual developmental disorder 34

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ceramide transporter 1

ISO

ClinVar Annotator: match by term: CERT1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34

PMID:23033978 PMID:25356899 PMID:25363768 PMID:25533962 PMID:25741868 More...

NCBI chrNW_004624951:718,380...828,220
Ensembl chrNW_004624951:721,411...828,150

G

DNA polymerase kappa

ISO

ClinVar Annotator: match by term: CERT1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34

PMID:25741868 PMID:28492532

NCBI chrNW_004624905:2,801,160...2,844,549
Ensembl chrNW_004624905:2,800,693...2,844,516

autosomal dominant intellectual developmental disorder 35

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

male-enhanced antigen 1

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | ClinVar Annotator: match by term: PPP2R5D-related disorder

PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 More...

NCBI chrNW_004624754:16,483,822...16,487,386
Ensembl chrNW_004624754:16,485,705...16,487,379

G

protein phosphatase 2 regulatory subunit B'delta

ISO

ClinVar Annotator: match by term: HOUGE-JANSSENS SYNDROME 1 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | ClinVar Annotator: match by term: PPP2R5D-related disorder

PMID:18414213 PMID:19344873 PMID:24896178 PMID:25533962 PMID:25741868 More...

NCBI chrNW_004624754:16,487,275...16,507,539
Ensembl chrNW_004624754:16,487,712...16,507,430

autosomal dominant intellectual developmental disorder 36

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 2 scaffold subunit Aalpha

ISO

ClinVar Annotator: match by term: Houge-Janssens syndrome 2 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: PPP2R1A-related disorder

PMID:9536098 PMID:17576681 PMID:24728327 PMID:25533962 PMID:25741868 More...

NCBI chrNW_004624832:2,979,270...3,009,189
Ensembl chrNW_004624832:2,979,320...3,011,715

autosomal dominant intellectual developmental disorder 38

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation elongation factor 1 alpha 2

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38

PMID:3066688 PMID:18414213 PMID:23033978 PMID:23647072 PMID:24697219 More...

NCBI chrNW_004624741:29,154,762...29,163,794
Ensembl chrNW_004624741:29,154,993...29,163,799

autosomal dominant intellectual developmental disorder 39

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin transcription factor 1 like

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | ClinVar Annotator: match by term: MYT1L-related condition

PMID:23033978 PMID:25232846 PMID:25741868 PMID:26240977 PMID:28492532 More...

NCBI chrNW_004624846:5,859,485...6,246,771
Ensembl chrNW_004624846:6,123,216...6,244,031

autosomal dominant intellectual developmental disorder 4

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kirre like nephrin family adhesion molecule 3

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 4

PMID:19012874 PMID:25741868

NCBI chrNW_004624812:561,290...1,158,012
Ensembl chrNW_004624812:562,308...1,154,934

autosomal dominant intellectual developmental disorder 40

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 16

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40

NCBI chrNW_004624793:151,508...186,342

G

chromosome alignment maintaining phosphoprotein 1

ISO

ClinVar Annotator: match by term: CHAMP1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40

PMID:21063390 PMID:23020937 PMID:24781758 PMID:25533962 PMID:25741868 More...

NCBI chrNW_004624793:109,854...121,461
Ensembl chrNW_004624793:111,025...113,526

G

lysine methyltransferase 2E (inactive)

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40

PMID:25741868 PMID:28492532

NCBI chrNW_004624739:24,371,415...24,476,245
Ensembl chrNW_004624739:24,372,237...24,476,137

G

trio Rho guanine nucleotide exchange factor

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40

NCBI chrNW_004624751:11,252,934...11,566,190
Ensembl chrNW_004624751:11,362,844...11,565,269

G

UPF3A regulator of nonsense mediated mRNA decay

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40

NCBI chrNW_004624793:134,607...151,730
Ensembl chrNW_004624793:136,642...151,692

autosomal dominant intellectual developmental disorder 41

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBL1X/Y related 1

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 | ClinVar Annotator: match by term: TBL1XR1-related disorder

PMID:9450851 PMID:16492805 PMID:18414213 PMID:19760657 PMID:21156281 More...

NCBI chrNW_004624730:54,835,624...55,013,474
Ensembl chrNW_004624730:54,835,624...54,884,835

autosomal dominant intellectual developmental disorder 42

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit beta 1

ISO

ClinVar Annotator: match by term: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42

PMID:9596582 PMID:19344873 PMID:24033266 PMID:25485910 PMID:25741868 More...

NCBI chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433

autosomal dominant intellectual developmental disorder 43

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HIVEP zinc finger 2

ISO

ClinVar Annotator: match by term: HIVEP2-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43

PMID:23020937 PMID:24033266 PMID:25741868 PMID:26153216 PMID:27003583 More...

NCBI chrNW_004624753:11,263,701...11,446,887
Ensembl chrNW_004624753:11,383,280...11,447,934

G

glutaminyl-tRNA synthetase 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43

PMID:24656866 PMID:25741868 PMID:28492532

NCBI chrNW_004624730:3,123,877...3,130,787
Ensembl chrNW_004624730:3,120,958...3,130,757

G

torsin family 1 member A

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43

PMID:25741868 PMID:30244176 PMID:34008892

NCBI chrNW_004624760:5,602,011...5,606,784
Ensembl chrNW_004624760:5,601,943...5,606,162

autosomal dominant intellectual developmental disorder 44

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

trio Rho guanine nucleotide exchange factor

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition | ClinVar Annotator: match by term: TRIO-related disorder

PMID:12551902 PMID:18388777 PMID:19481195 PMID:22495306 PMID:23033978 More...

NCBI chrNW_004624751:11,252,934...11,566,190
Ensembl chrNW_004624751:11,362,844...11,565,269

autosomal dominant intellectual developmental disorder 45

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

capicua transcriptional repressor

ISO

ClinVar Annotator: match by term: CIC-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45

PMID:21076407 PMID:24307393 PMID:24728327 PMID:25741868 PMID:28288114 More...

NCBI chrNW_004624907:458,447...486,482
Ensembl chrNW_004624907:454,948...486,565

G

platelet activating factor acetylhydrolase 1b catalytic subunit 3

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45

NCBI chrNW_004624907:454,434...457,551
Ensembl chrNW_004624907:454,407...459,441

autosomal dominant intellectual developmental disorder 46

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 5

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: KCNQ5-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46

PMID:25741868 PMID:26467025 PMID:28492532 PMID:28669405 PMID:35377796

NCBI chrNW_004624819:6,886,328...7,365,537
Ensembl chrNW_004624819:6,889,658...7,365,537

autosomal dominant intellectual developmental disorder 47

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STAG1 cohesin complex component

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: STAG1-related disorder

PMID:25741868 PMID:25748820 PMID:28119487 PMID:28492532 PMID:30158690 More...

NCBI chrNW_004624730:12,762,099...13,158,603
Ensembl chrNW_004624730:12,761,460...13,086,965

autosomal dominant intellectual developmental disorder 48

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rac family small GTPase 1

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition

PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More...

NCBI chrNW_004624740:30,912,841...30,933,882
Ensembl chrNW_004624740:30,911,598...30,934,025

G

retinoic acid receptor beta

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48

PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More...

NCBI chrNW_004624788:2,738,341...3,493,140
Ensembl chrNW_004624788:3,257,697...3,493,132

autosomal dominant intellectual developmental disorder 5

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-galactosyltransferase 4

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,542,500...23,543,855

G

BCL2 antagonist/killer 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

PMID:20683986 PMID:23161826 PMID:23687080 PMID:23708187 PMID:26079862 More...

NCBI chrNW_004624754:23,297,077...23,302,366
Ensembl chrNW_004624754:23,296,800...23,301,223

G

collagen type XI alpha 2 chain

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591

G

cutA divalent cation tolerance homolog

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,398,591...23,400,111
Ensembl chrNW_004624754:23,398,684...23,400,108

G

death domain associated protein

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,504,465...23,509,034
Ensembl chrNW_004624754:23,505,386...23,509,241

G

hydroxysteroid 17-beta dehydrogenase 8

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,600,706...23,602,786
Ensembl chrNW_004624754:23,600,706...23,602,751

G

inositol 1,4,5-trisphosphate receptor type 3

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

PMID:20683986 PMID:23161826 PMID:23687080 PMID:23708187 PMID:26079862 More...

NCBI chrNW_004624754:23,228,690...23,281,552
Ensembl chrNW_004624754:23,229,281...23,281,621

G

kinesin family member C1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,405,951...23,421,696
Ensembl chrNW_004624754:23,410,007...23,413,902

G

ubiquinol-cytochrome-c reductase complex assembly factor 2

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

PMID:20683986 PMID:23161826 PMID:23687080 PMID:23708187 PMID:26079862 More...

NCBI chrNW_004624754:23,215,920...23,227,895
Ensembl chrNW_004624754:23,215,962...23,227,895

G

prefoldin subunit 6

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,531,016...23,532,350
Ensembl chrNW_004624754:23,531,016...23,532,388

G

PHD finger protein 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,400,338...23,405,370
Ensembl chrNW_004624754:23,400,664...23,404,212

G

ral guanine nucleotide dissociation stimulator like 2

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,522,277...23,530,541
Ensembl chrNW_004624754:23,522,258...23,529,766

G

ring finger protein 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,595,612...23,599,146
Ensembl chrNW_004624754:23,594,910...23,599,434

G

ribosomal protein S18

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,544,042...23,548,935
Ensembl chrNW_004624754:23,544,043...23,548,301

G

retinoid X receptor beta

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,607,046...23,613,399
Ensembl chrNW_004624754:23,606,955...23,613,508

G

solute carrier family 39 member 7

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,602,940...23,606,903
Ensembl chrNW_004624754:23,603,141...23,640,406

G

synaptic Ras GTPase activating protein 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: SYNGAP1-related disorder | ClinVar Annotator: match by term: SYNGAP1-related encephalopathy

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19196676 More...

NCBI chrNW_004624754:23,367,585...23,396,643
Ensembl chrNW_004624754:23,366,912...23,396,575

G

TAP binding protein

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,513,060...23,521,169
Ensembl chrNW_004624754:23,509,436...23,520,135

G

VPS52 subunit of GARP complex

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,549,033...23,563,756
Ensembl chrNW_004624754:23,548,998...23,563,931

G

WD repeat domain 46

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,532,579...23,542,109
Ensembl chrNW_004624754:23,532,771...23,541,975

G

zinc finger and BTB domain containing 22

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

NCBI chrNW_004624754:23,509,661...23,512,909
Ensembl chrNW_004624754:23,509,668...23,512,414

G

zinc finger and BTB domain containing 9

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5

PMID:20683986 PMID:23161826 PMID:23687080 PMID:23708187 PMID:26079862 More...

NCBI chrNW_004624754:23,362,175...23,366,867
Ensembl chrNW_004624754:23,364,916...23,366,349

autosomal dominant intellectual developmental disorder 50

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-alpha-acetyltransferase 15, NatA auxiliary subunit

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome

PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More...

NCBI chrNW_004624777:19,599,676...19,688,447

autosomal dominant intellectual developmental disorder 51

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine methyltransferase 5B

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: KMT5B-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51

PMID:25363768 PMID:25741868 PMID:28191889 PMID:28492532 PMID:29276005 More...

NCBI chrNW_004624767:18,654,682...18,716,087
Ensembl chrNW_004624767:18,655,193...18,716,252

autosomal dominant intellectual developmental disorder 52

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASH1 like histone lysine methyltransferase

ISO

ClinVar Annotator: match by term: ASH1L-related condition | ClinVar Annotator: match by term: ASH1L-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 52

PMID:23033978 PMID:25363760 PMID:25741868 PMID:25961944 PMID:27824329 More...

NCBI chrNW_004624885:961,880...1,136,990
Ensembl chrNW_004624885:961,880...1,136,731

autosomal dominant intellectual developmental disorder 53

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin dependent protein kinase II alpha

ISO

ClinVar Annotator: match by term: CAMK2A-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53

PMID:25363768 PMID:25741868 PMID:25741872 PMID:28130356 PMID:29100089 More...

NCBI chrNW_004624774:9,526,323...9,585,647
Ensembl chrNW_004624774:9,526,323...9,585,649

autosomal dominant intellectual developmental disorder 54

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin dependent protein kinase II beta

ISO

ClinVar Annotator: match by term: CAMK2B-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54

PMID:25741868 PMID:28492532 PMID:29100089 PMID:29560374 PMID:30842224 More...

NCBI chrNW_004624740:7,750,327...7,828,891
Ensembl chrNW_004624740:7,750,245...7,831,454

autosomal dominant intellectual developmental disorder 55

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NUS1 dehydrodolichyl diphosphate synthase subunit

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES

PMID:16199547 PMID:25066056 PMID:25741868 PMID:28492532 PMID:28842490 More...

NCBI chrNW_004624798:12,132,570...12,154,252
Ensembl chrNW_004624798:12,130,569...12,154,314

autosomal dominant intellectual developmental disorder 56

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clathrin heavy chain

ISO

ClinVar Annotator: match by term: CLTC-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56

PMID:9536098 PMID:17576681 PMID:22831640 PMID:25741868 PMID:26822784 More...

NCBI chrNW_004624871:1,439,975...1,507,514
Ensembl chrNW_004624871:1,439,838...1,510,911

G

matrix metallopeptidase 20

ISO

ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56

PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:22243262 More...

NCBI chrNW_004624878:277,569...320,093
Ensembl chrNW_004624878:277,558...320,093

G

peptidyl-tRNA hydrolase 2

ISO

ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56

NCBI chrNW_004624871:1,511,486...1,519,673
Ensembl chrNW_004624871:1,511,486...1,519,567

autosomal dominant intellectual developmental disorder 57

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activator of transcription and developmental regulator AUTS2

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57

PMID:25205402 PMID:25741868 PMID:27075013 PMID:28492532 PMID:31785789

NCBI chrNW_004624740:10,339,411...11,463,292
Ensembl chrNW_004624740:10,341,274...10,367,075

G

mannose receptor C type 2

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57

NCBI chrNW_004624849:160,063...213,839
Ensembl chrNW_004624849:160,091...214,399

G

tousled like kinase 2

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 57 | ClinVar Annotator: match by term: TLK2-related condition | ClinVar Annotator: match by term: TLK2-related neurodevelopmental disorder

PMID:25741868 PMID:25741869 PMID:27479843 PMID:28492532 PMID:29861108 More...

NCBI chrNW_004624849:24,536...150,142
Ensembl chrNW_004624849:24,867...151,002

autosomal dominant intellectual developmental disorder 58

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SET nuclear proto-oncogene

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 | ClinVar Annotator: match by term: SET-related condition

PMID:9536098 PMID:11231286 PMID:17576681 PMID:25356899 PMID:25741868 More...

NCBI chrNW_004624760:6,293,452...6,304,237

G

SET like protein

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58

NCBI chrNW_004624742:7,073,431...7,075,394

autosomal dominant intellectual developmental disorder 59

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin dependent protein kinase II gamma

ISO

ClinVar Annotator: match by term: CAMK2G-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder 59

PMID:23033978 PMID:25741868 PMID:30184290 PMID:39825153

NCBI chrNW_004624754:7,325,828...7,380,870
Ensembl chrNW_004624754:7,325,470...7,380,876

autosomal dominant intellectual developmental disorder 6

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein L domain containing 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:25,139,100...25,144,958
Ensembl chrNW_004624752:25,140,932...25,145,333

G

Rho GDP dissociation inhibitor beta

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,074,249...23,090,866
Ensembl chrNW_004624752:23,073,680...23,091,313

G

ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,177,850...23,192,586
Ensembl chrNW_004624752:23,177,830...23,192,642

G

activating transcription factor 7 interacting protein

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,469,237...23,605,803
Ensembl chrNW_004624752:23,470,201...23,573,648

G

BCL2 like 14

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:25,762,860...25,799,990
Ensembl chrNW_004624752:25,763,749...25,800,040

G

BLOC-1 related complex subunit 5

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:25,418,206...25,504,658
Ensembl chrNW_004624752:25,382,796...25,504,989

G

cyclin dependent kinase inhibitor 1B

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114

G

cAMP responsive element binding protein like 2

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:25,280,957...25,301,562

G

chromosome unknown C12orf60 homolog

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,198,069...23,198,797

G

DEAD-box helicase 47

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:25,114,639...25,131,601
Ensembl chrNW_004624752:25,117,016...25,131,911

G

dual specificity phosphatase 16

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:25,340,997...25,413,561
Ensembl chrNW_004624752:25,340,448...25,413,561

G

epithelial membrane protein 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:24,778,610...24,797,395
Ensembl chrNW_004624752:24,780,689...24,797,544

G

EGFR pathway substrate 8, signaling adaptor

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:22,250,988...22,424,957
Ensembl chrNW_004624752:22,295,413...22,426,717

G

endoplasmic reticulum protein 27

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,091,620...23,108,890
Ensembl chrNW_004624752:23,091,620...23,107,923

G

ETS variant transcription factor 6

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164

G

family with sequence similarity 234 member B

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:24,916,838...24,955,567
Ensembl chrNW_004624752:24,915,436...24,955,879

G

G protein-coupled receptor 19

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:25,225,750...25,268,547
Ensembl chrNW_004624752:25,237,710...25,268,693

G

G protein-coupled receptor class C group 5 member A

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:25,061,475...25,077,029
Ensembl chrNW_004624752:25,061,379...25,065,560

G

G protein-coupled receptor class C group 5 member D

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:25,029,315...25,039,231
Ensembl chrNW_004624752:25,030,667...25,039,397

G

glutamate ionotropic receptor NMDA type subunit 2B

ISO

ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More...

NCBI chrNW_004624752:24,008,520...24,480,834
Ensembl chrNW_004624752:24,135,487...24,459,288

G

germ cell associated 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:24,898,998...24,916,096
Ensembl chrNW_004624752:24,900,087...24,917,442

G

guanylate cyclase 2C

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,285,987...23,357,662
Ensembl chrNW_004624752:23,286,093...23,357,662

G

heme binding protein 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605

NCBI chrNW_004624752:24,990,615...25,013,194
Ensembl chrNW_004624752:24,989,751...25,014,132

G

histone H4

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,249,356...23,250,067
Ensembl chrNW_004624752:23,243,077...23,249,832

G

histone H2A.J

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,246,253...23,246,912
Ensembl chrNW_004624752:23,246,383...23,246,772

G

LDL receptor related protein 6

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:25,605,444...25,756,573
Ensembl chrNW_004624752:25,605,302...25,751,893

G

MANSC domain containing 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:25,513,972...25,531,198
Ensembl chrNW_004624752:25,513,781...25,532,017

G

matrix Gla protein

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048

G

phosphodiesterase 6H

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,051,486...23,055,128
Ensembl chrNW_004624752:23,051,752...23,055,103

G

phospholipase B domain containing 1

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,408,510...23,468,477
Ensembl chrNW_004624752:23,422,716...23,468,087

G

protein tyrosine phosphatase receptor type O

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:22,446,203...22,700,925
Ensembl chrNW_004624752:22,445,311...22,700,904

G

RAS like estrogen regulated growth inhibitor

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:22,780,248...22,929,395
Ensembl chrNW_004624752:22,783,519...22,928,070

G

single-pass membrane protein with coiled-coil domains 3

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,208,960...23,217,980
Ensembl chrNW_004624752:23,209,102...23,217,898

G

WW domain binding protein 11

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6

NCBI chrNW_004624752:23,220,021...23,235,739

autosomal dominant intellectual developmental disorder 60 with seizures

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 2 subunit mu 1

ISO

ClinVar Annotator: match by term: AP2M1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31104773 More...

NCBI chrNW_004624730:72,386,376...72,395,392

G

phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures

NCBI chrNW_004624772:18,616,095...18,658,016
Ensembl chrNW_004624772:18,616,121...18,658,286

autosomal dominant intellectual developmental disorder 61

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DAZ interacting zinc finger protein 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder 61

NCBI chrNW_004624879:2,301,172...2,355,665
Ensembl chrNW_004624879:2,303,685...2,354,319

G

mediator complex subunit 13

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 | ClinVar Annotator: match by term: Intellectual developmental disorder 61 | ClinVar Annotator: match by term: MED13-related condition

PMID:25741868 PMID:28492532 PMID:29740699 PMID:29758562

NCBI chrNW_004624871:1,886,650...1,983,165
Ensembl chrNW_004624871:1,886,688...1,980,105

G

WD repeat domain 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder 61

NCBI chrNW_004624755:21,090,599...21,124,107
Ensembl chrNW_004624755:21,090,717...21,123,259

autosomal dominant intellectual developmental disorder 62

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA dehydrogenase very long chain

ISO

ClinVar Annotator: match by term: DLG4-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder 62

PMID:25741868 PMID:27618451

NCBI chrNW_004624786:9,838,102...9,843,506
Ensembl chrNW_004624786:9,838,227...9,843,332

G

discs large MAGUK scaffold protein 4

ISO

ClinVar Annotator: match by term: DLG4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 | ClinVar Annotator: match by term: Intellectual developmental disorder 62

PMID:16199547 PMID:25741868 PMID:26350515 PMID:27479843 PMID:27618451 More...

NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100

autosomal dominant intellectual developmental disorder 63 with macrocephaly

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

trio Rho guanine nucleotide exchange factor

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY

PMID:19481195 PMID:25741868 PMID:26721934 PMID:27418539 PMID:28492532 More...

NCBI chrNW_004624751:11,252,934...11,566,190
Ensembl chrNW_004624751:11,362,844...11,565,269

autosomal dominant intellectual developmental disorder 64

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

muscular LMNA interacting protein

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64

PMID:25741868 PMID:34581780

NCBI chrNW_004624850:1,296,435...1,606,630

G

zinc finger protein 292

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64 | ClinVar Annotator: match by term: ZNF292-related condition

PMID:25363760 PMID:25741868 PMID:27824329 PMID:28492532 PMID:28808027 More...

NCBI chrNW_004624799:7,092,429...7,183,892
Ensembl chrNW_004624799:7,086,078...7,180,234

autosomal dominant intellectual developmental disorder 65

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 4B

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65 | ClinVar Annotator: match by term: KDM4B-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 65

PMID:25741868 PMID:29758562 PMID:33232677

NCBI chrNW_004624828:4,796,306...4,893,093
Ensembl chrNW_004624828:4,796,972...4,864,638

G

OCRL inositol polyphosphate-5-phosphatase

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65

NCBI chrNW_004624797:8,731,130...8,792,300
Ensembl chrNW_004624797:8,730,713...8,792,727

autosomal dominant intellectual developmental disorder 66

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase plasma membrane Ca2+ transporting 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 66

PMID:25741868 PMID:33057194 PMID:35358416

NCBI chrNW_004624750:16,990,288...17,103,279

autosomal dominant intellectual developmental disorder 67

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutamate ionotropic receptor AMPA type subunit 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 67

PMID:23033978 PMID:25363760 PMID:25741868 PMID:26749308 PMID:27363847 More...

NCBI chrNW_004624733:35,337,039...35,648,184
Ensembl chrNW_004624733:35,339,683...35,647,349

autosomal dominant intellectual developmental disorder 68

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine methyltransferase 2B

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68

PMID:25741868 PMID:27839873 PMID:27992417 PMID:28492532 PMID:33150406

NCBI chrNW_004624794:10,023,229...10,046,128
Ensembl chrNW_004624794:10,023,492...10,045,820

autosomal dominant intellectual developmental disorder 69

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lectin, mannose binding 2 like

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 69

NCBI chrNW_004624749:2,616,336...2,639,250
Ensembl chrNW_004624749:2,616,336...2,637,305

autosomal dominant intellectual developmental disorder 7

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP synthase peripheral stalk subunit OSCP

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:22,064,438...22,074,753
Ensembl chrNW_004624745:22,064,441...22,074,773

G

carbonyl reductase 3

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:27,298,714...27,305,606
Ensembl chrNW_004624745:27,294,222...27,305,109

G

cilia and flagella associated protein 298

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,862,313...20,877,188
Ensembl chrNW_004624745:20,862,538...20,876,646

G

chromatin assembly factor 1 subunit B

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:27,094,302...27,117,957
Ensembl chrNW_004624745:27,095,361...27,117,669

G

claudin 14

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:27,058,441...27,074,288
Ensembl chrNW_004624745:27,058,911...27,074,282

G

chloride intracellular channel 6

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:22,807,618...22,861,521
Ensembl chrNW_004624745:22,816,292...22,861,613

G

crystallin zeta like 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,807,703...21,847,012
Ensembl chrNW_004624745:21,808,688...21,846,880

G

DnaJ heat shock protein family (Hsp40) member C28

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,715,732...21,720,373
Ensembl chrNW_004624745:21,717,745...21,718,902

G

DNA replication fork stabilization factor DONSON

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,798,712...21,807,657
Ensembl chrNW_004624745:21,798,075...21,807,556

G

DOP1 leucine zipper like protein B

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:27,196,417...27,292,290
Ensembl chrNW_004624745:27,197,068...27,265,087

G

dual specificity tyrosine phosphorylation regulated kinase 1A

ISO

ClinVar Annotator: match by term: DYRK1A-related disorder | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7 | ClinVar Annotator: match by term: Intellectual disability syndrome due to a DYRK1A point mutation

PMID:9536098 PMID:16199547 PMID:17237124 PMID:17576681 PMID:18414213 More...

NCBI chrNW_004624745:26,180,858...26,316,848
Ensembl chrNW_004624745:26,180,864...26,315,234

G

exosomal polycystin 1 interacting protein

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,031,717...21,064,616
Ensembl chrNW_004624745:21,034,962...21,035,675

G

eva-1 homolog C

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,746,101...20,835,142
Ensembl chrNW_004624745:20,747,018...20,835,259

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,735,431...21,763,330
Ensembl chrNW_004624745:21,734,282...21,762,734

G

holocarboxylase synthetase

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:26,662,927...26,850,236
Ensembl chrNW_004624745:26,675,837...26,847,415

G

hormonally up-regulated Neu-associated kinase

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,212,006...20,323,213
Ensembl chrNW_004624745:20,212,095...20,323,330

G

interferon alpha and beta receptor subunit 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,545,846...21,569,719
Ensembl chrNW_004624745:21,546,007...21,572,776

G

interferon alpha and beta receptor subunit 2

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,434,234...21,470,099
Ensembl chrNW_004624745:21,433,758...21,468,889

G

interferon gamma receptor 2

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,628,968...21,652,305
Ensembl chrNW_004624745:21,628,797...21,651,652

G

interleukin 10 receptor subunit beta

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,470,651...21,492,899
Ensembl chrNW_004624745:21,470,729...21,492,286

G

intersectin 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,847,593...22,055,141
Ensembl chrNW_004624745:21,906,187...22,050,822

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:22,624,414...22,631,625
Ensembl chrNW_004624745:22,624,765...22,631,609

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:22,552,809...22,553,321
Ensembl chrNW_004624745:22,525,037...22,556,000

G

potassium inwardly rectifying channel subfamily J member 6

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:25,879,671...26,130,998
Ensembl chrNW_004624745:25,947,561...26,127,171

G

MIS18 kinetochore protein A

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,589,236...20,603,368
Ensembl chrNW_004624745:20,590,737...20,603,475

G

MORC family CW-type zinc finger 3

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:27,120,083...27,174,257
Ensembl chrNW_004624745:27,121,144...27,174,295

G

melanocortin 2 receptor accessory protein

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,620,807...20,642,688

G

mitochondrial ribosomal protein S6

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:22,231,789...22,304,147
Ensembl chrNW_004624745:22,231,776...22,304,147

G

oligodendrocyte transcription factor 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,308,831...21,310,898
Ensembl chrNW_004624745:21,308,928...21,309,722

G

oligodendrocyte transcription factor 2

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,270,804...21,274,225
Ensembl chrNW_004624745:21,270,965...21,272,932

G

PAX3 and PAX7 binding protein 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,988,156...21,019,348
Ensembl chrNW_004624745:20,988,162...21,019,344

G

phosphatidylinositol glycan anchor biosynthesis class P

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:26,566,046...26,576,635

G

regulator of calcineurin 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:22,683,600...22,764,735
Ensembl chrNW_004624745:22,683,016...22,764,720

G

ripply transcriptional repressor 3

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:26,636,307...26,658,373

G

SR-related CTD associated factor 4

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,040,416...20,097,764
Ensembl chrNW_004624745:20,040,770...20,097,835

G

SET domain containing 4

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:23,928,041...24,148,644
Ensembl chrNW_004624745:24,104,617...24,148,617

G

SIM bHLH transcription factor 2

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:26,851,423...26,891,590
Ensembl chrNW_004624745:26,852,980...26,891,176

G

solute carrier family 5 member 3

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:22,231,434...22,264,555
Ensembl chrNW_004624745:22,231,887...22,258,965

G

small integral membrane protein 11

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:22,558,546...22,569,380
Ensembl chrNW_004624745:22,558,420...22,571,802

G

superoxide dismutase 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958

G

SON DNA and RNA binding protein

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,762,273...21,798,587
Ensembl chrNW_004624745:21,763,010...21,797,817

G

synaptojanin 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,881,312...20,984,242
Ensembl chrNW_004624745:20,881,317...20,984,184

G

TIAM Rac1 associated GEF 1

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:19,563,166...19,941,511
Ensembl chrNW_004624745:19,561,195...19,760,095

G

transmembrane protein 50B

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:21,649,759...21,704,734
Ensembl chrNW_004624745:21,663,673...21,704,836

G

tetratricopeptide repeat domain 3

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:26,446,014...26,565,998

G

URB1 ribosome biogenesis homolog

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:20,647,661...20,716,262
Ensembl chrNW_004624745:20,648,230...20,715,549

G

VPS26 endosomal protein sorting factor C

ISO

ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chrNW_004624745:26,377,806...26,408,595
Ensembl chrNW_004624745:26,377,280...26,408,907

autosomal dominant intellectual developmental disorder 70

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

2-aminoethanethiol dioxygenase

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:962,840...966,603
Ensembl chrNW_004624791:965,433...966,245

G

ankyrin 3

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:3,299,287...3,633,631

G

AT-rich interaction domain 5B

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:1,610,169...1,785,512
Ensembl chrNW_004624791:1,610,169...1,785,477

G

atonal bHLH transcription factor 7

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624754:2,606,689...2,610,231
Ensembl chrNW_004624754:2,605,173...2,650,354

G

ciliary associated calcium binding coiled-coil 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:1,945,194...2,058,039
Ensembl chrNW_004624791:1,943,788...2,058,630

G

coiled-coil domain containing 6

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:3,719,006...3,822,985
Ensembl chrNW_004624791:3,718,961...3,820,089

G

cyclin dependent kinase 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:2,891,239...2,915,001

G

catenin alpha 3

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624754:285,469...2,182,218
Ensembl chrNW_004624754:285,857...2,034,582

G

DnaJ heat shock protein family (Hsp40) member C12

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624754:2,175,204...2,227,405
Ensembl chrNW_004624754:2,172,942...2,227,529

G

early growth response 2

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:953,009...959,656
Ensembl chrNW_004624791:955,161...959,791

G

HECT and RLD domain containing E3 ubiquitin protein ligase 4

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624754:2,335,585...2,466,955
Ensembl chrNW_004624754:2,336,163...2,466,862

G

jumonji domain containing 1C

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:306,827...589,134
Ensembl chrNW_004624791:365,726...588,870

G

leucine rich repeat transmembrane neuronal 3

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624754:1,348,448...1,499,649
Ensembl chrNW_004624754:1,348,129...1,496,259

G

myopalladin

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624754:2,466,980...2,596,288
Ensembl chrNW_004624754:2,467,071...2,598,386

G

nuclear receptor binding factor 2

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:602,774...620,186
Ensembl chrNW_004624791:602,274...620,327

G

receptor accessory protein 3

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:208,577...307,192
Ensembl chrNW_004624791:212,200...307,160

G

Rho related BTB domain containing 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:2,695,173...2,824,581
Ensembl chrNW_004624791:2,747,931...2,827,614

G

rhotekin 2

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:1,470,830...1,544,565
Ensembl chrNW_004624791:1,471,058...1,539,763

G

SET domain containing 2, histone lysine methyltransferase

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

PMID:25741868 PMID:28492532 PMID:32710489

NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200

G

sirtuin 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624754:2,304,476...2,332,705
Ensembl chrNW_004624754:2,304,634...2,330,946

G

transmembrane protein 26

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70

NCBI chrNW_004624791:2,256,585...2,297,603
Ensembl chrNW_004624791:2,258,289...2,297,599

autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulatory factor X7

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | ClinVar Annotator: match by term: RFX7-related condition

PMID:25741868 PMID:33584783 PMID:33658631 PMID:36334883

NCBI chrNW_004624731:5,701,042...5,787,302
Ensembl chrNW_004624731:5,702,975...5,785,730

autosomal dominant intellectual developmental disorder 72

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine/arginine repetitive matrix 2

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 72 | ClinVar Annotator: match by term: SRRM2-related condition

PMID:25741868 PMID:28492532 PMID:29068549 PMID:35567594

NCBI chrNW_004624824:594,203...613,225
Ensembl chrNW_004624824:594,790...609,750

autosomal dominant intellectual developmental disorder 73

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TATA-box binding protein associated factor 4

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 73

PMID:25741868 PMID:33875846 PMID:35904126

NCBI chrNW_004624741:27,881,850...27,948,543
Ensembl chrNW_004624741:27,883,183...27,909,304

autosomal dominant intellectual developmental disorder 74

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heterogeneous nuclear ribonucleoprotein C

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 74

PMID:25741868 PMID:37541189

NCBI chrNW_004624825:7,198,387...7,276,936
Ensembl chrNW_004624825:7,205,292...7,276,889

autosomal dominant intellectual developmental disorder 75

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DExH-box helicase 9

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 75

PMID:37369308 PMID:37467750

NCBI chrNW_004624814:10,863,079...10,923,842
Ensembl chrNW_004624814:10,863,337...10,921,075

autosomal dominant intellectual developmental disorder 8

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 2

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:880,216...898,753
Ensembl chrNW_004624760:880,148...898,751

G

1-acylglycerol-3-phosphate O-acyltransferase 2

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,746,642...1,755,154
Ensembl chrNW_004624760:1,747,081...1,755,113

G

apical junction component 1 homolog

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,002,860...1,008,527
Ensembl chrNW_004624760:1,001,590...1,007,530

G

anaphase promoting complex subunit 2

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:760,815...772,116
Ensembl chrNW_004624760:760,749...772,855

G

arrestin domain containing 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:464,914...475,070
Ensembl chrNW_004624760:468,069...475,070

G

complement C8 gamma chain

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:937,871...939,655
Ensembl chrNW_004624760:937,871...939,466

G

calcium voltage-gated channel subunit alpha1 B

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:78,754...257,901
Ensembl chrNW_004624760:81,236...257,787

G

calmodulin regulated spectrin associated protein 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,220,036...1,267,345
Ensembl chrNW_004624760:1,179,756...1,267,285

G

caspase recruitment domain family member 9

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,533,247...1,542,529
Ensembl chrNW_004624760:1,533,390...1,540,162

G

coiled-coil domain containing 183

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,029,318...1,038,375
Ensembl chrNW_004624760:1,029,257...1,037,821

G

ciliary microtubule inner protein 2A

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:710,923...715,126
Ensembl chrNW_004624760:711,349...715,024

G

chloride intracellular channel 3

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:911,124...912,922
Ensembl chrNW_004624760:911,145...912,951

G

cysteine rich tail 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:730,245...731,559
Ensembl chrNW_004624760:730,492...731,379

G

divergent protein kinase domain 1B

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,763,424...1,769,277
Ensembl chrNW_004624760:1,763,440...1,770,253

G

DNL-type zinc finger

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,531,439...1,533,176
Ensembl chrNW_004624760:1,531,439...1,533,170

G

diphthamide biosynthesis 7

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:504,173...515,747

G

dipeptidyl peptidase 7

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:825,992...829,670
Ensembl chrNW_004624760:826,218...830,636

G

endothelial differentiation related factor 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:986,820...990,019
Ensembl chrNW_004624760:986,822...990,019

G

EGF like domain multiple 7

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,737,001...1,746,496
Ensembl chrNW_004624760:1,738,942...1,746,226

G

euchromatic histone lysine methyltransferase 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:271,397...463,462
Ensembl chrNW_004624760:272,493...379,780

G

ectonucleoside triphosphate diphosphohydrolase 2

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:859,598...865,194
Ensembl chrNW_004624760:859,637...866,804

G

ectonucleoside triphosphate diphosphohydrolase 8

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:597,580...603,523
Ensembl chrNW_004624760:599,156...603,520

G

endosome associated trafficking regulator 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,562,213...1,568,630
Ensembl chrNW_004624760:1,562,033...1,568,550

G

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

NCBI chrNW_004624760:939,896...943,636
Ensembl chrNW_004624760:940,256...943,644

G

fucosyltransferase 7

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:876,048...877,984
Ensembl chrNW_004624760:876,059...877,574

G

G protein signaling modulator 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,507,255...1,529,170
Ensembl chrNW_004624760:1,507,242...1,529,163

G

glutamate ionotropic receptor NMDA type subunit 1

ISO

ClinVar Annotator: match by term: GRIN1-related disorder | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:9536098 PMID:10197535 PMID:10201407 PMID:12451122 PMID:16199547 More...

NCBI chrNW_004624760:777,208...800,525
Ensembl chrNW_004624760:776,873...801,354

G

inositol polyphosphate-5-phosphatase E

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,586,003...1,594,869
Ensembl chrNW_004624760:1,586,848...1,594,835

G

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

NCBI chrNW_004624760:1,167,489...1,209,155
Ensembl chrNW_004624760:1,167,641...1,209,802

G

lipocalin 10

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,070,637...1,074,260

G

lipocalin 15

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,047,585...1,050,735

G

lipocalin 6

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,066,532...1,070,083

G

lipocalin 8

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,052,765...1,055,559

G

lipocalin like 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:917,617...920,100

G

LIM homeobox 3

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414

G

leucine rich repeat containing 26

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:774,137...777,095

G

mannosidase alpha class 1B member 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:813,657...826,020
Ensembl chrNW_004624760:813,045...825,153

G

mitochondrial ribosomal protein L41

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:517,200...518,805
Ensembl chrNW_004624760:517,200...518,884

G

NACC family member 2

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,319,092...1,386,692
Ensembl chrNW_004624760:1,318,993...1,349,810

G

NADPH dependent diflavin oxidoreductase 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:738,110...746,417
Ensembl chrNW_004624760:737,583...746,357

G

negative elongation factor complex member B

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:692,735...703,571
Ensembl chrNW_004624760:692,735...705,328

G

notch receptor 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531

G

NADPH oxidase activator 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:602,403...610,775
Ensembl chrNW_004624760:603,528...610,942

G

neural proliferation, differentiation and control 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:866,358...871,572
Ensembl chrNW_004624760:866,570...871,305

G

NOTCH regulated ankyrin repeat protein

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:670,796...672,679
Ensembl chrNW_004624760:670,837...671,181

G

NMDA receptor synaptonuclear signaling and neuronal migration factor

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:575,805...583,410
Ensembl chrNW_004624760:574,920...583,410

G

PAXX non-homologous end joining factor

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:912,953...914,793
Ensembl chrNW_004624760:913,574...914,708

G

peptidase, mitochondrial processing subunit alpha

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,568,655...1,576,273
Ensembl chrNW_004624760:1,568,710...1,575,867

G

patatin like domain 7, lysophospholipase

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:521,145...575,431

G

prostaglandin D2 synthase

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:920,292...923,174
Ensembl chrNW_004624760:920,877...923,283

G

quiescin sulfhydryl oxidase 2

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,436,169...1,459,522
Ensembl chrNW_004624760:1,435,969...1,459,578

G

RAB, member RAS oncogene family like 6

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,008,723...1,029,070
Ensembl chrNW_004624760:1,009,270...1,028,929

G

ring finger protein 208

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:733,711...735,605
Ensembl chrNW_004624760:734,629...735,435

G

ring finger protein 224

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:726,458...728,605

G

suppressor APC domain containing 2

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:843,746...848,104
Ensembl chrNW_004624760:843,760...847,327

G

SEC16 homolog A, endoplasmic reticulum export factor

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,595,021...1,628,985
Ensembl chrNW_004624760:1,594,899...1,629,409

G

solute carrier family 34 member 3

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551

G

small nuclear RNA activating complex polypeptide 4

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,542,979...1,561,164
Ensembl chrNW_004624760:1,543,498...1,561,178

G

SS nuclear autoantigen 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:759,471...760,797
Ensembl chrNW_004624760:759,469...760,797

G

sperm-tail PG-rich repeat containing 3

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:703,733...707,880
Ensembl chrNW_004624760:705,486...706,898

G

transmembrane protein 141

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,038,579...1,040,250
Ensembl chrNW_004624760:1,038,579...1,040,239

G

transmembrane protein 203

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:746,451...747,960
Ensembl chrNW_004624760:746,671...747,081

G

transmembrane protein 250

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,383,478...1,386,722

G

torsin family 4 member A

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:686,754...692,557
Ensembl chrNW_004624760:686,768...690,397

G

taperin

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:750,833...758,329
Ensembl chrNW_004624760:750,871...758,433

G

TNF receptor associated factor 2

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:952,574...973,511
Ensembl chrNW_004624760:952,574...965,661

G

tubulin beta 4B class IVb

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:715,013...717,462
Ensembl chrNW_004624760:712,987...717,951

G

UDP-N-acetylglucosamine pyrophosphorylase 1 like 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:834,605...839,983
Ensembl chrNW_004624760:834,606...839,970

G

UBA domain containing 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

NCBI chrNW_004624760:1,278,395...1,294,403
Ensembl chrNW_004624760:1,278,286...1,294,482

G

zinc finger MYND-type containing 19

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532

NCBI chrNW_004624760:495,430...501,645
Ensembl chrNW_004624760:494,771...503,301

autosomal dominant intellectual developmental disorder type FRA12A

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

disco interacting protein 2 homolog B

ISO

ClinVar Annotator: match by term: DIP2B-related condition | ClinVar Annotator: match by term: Intellectual disability, FRA12A type

PMID:17236128 PMID:25741868 PMID:28492532

NCBI chrNW_004624816:1,608,898...1,854,505
Ensembl chrNW_004624816:1,613,142...1,854,097

G

tectonin beta-propeller repeat containing 2

ISO

ClinVar Annotator: match by term: Intellectual disability, FRA12A type

PMID:25741868 PMID:28492532

NCBI chrNW_004624734:2,015,255...2,091,692
Ensembl chrNW_004624734:2,018,362...2,083,122

Bryant-Li-Bhoj neurodevelopmental syndrome 1

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histone H3.3

ISO

ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 1 | ClinVar Annotator: match by term: H3-3A-related condition | ClinVar Annotator: match by term: H3F3A-related disorders

PMID:21636898 PMID:24493739 PMID:25741868 PMID:26139371 PMID:26159857 More...

NCBI chrNW_004624807:194,372...203,205

Bryant-Li-Bhoj neurodevelopmental syndrome 2

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histone H3.3

ISO

ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 2 | ClinVar Annotator: match by term: H3-3B-related condition

PMID:25741868 PMID:33268356 PMID:34876591

NCBI chrNW_004624801:5,668,661...5,672,164

Clark-Baraitser syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid hormone receptor interactor 12

ISO

ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition

PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More...

NCBI chrNW_004624843:3,589,068...3,723,115
Ensembl chrNW_004624843:3,586,734...3,722,237

Coffin-Siris syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome

NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634

G

AT-rich interaction domain 1B

ISO

ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853

G

lysine demethylase 8

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome

NCBI chrNW_004624782:11,884,847...11,903,944
Ensembl chrNW_004624782:11,884,631...11,903,947

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ISO

ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability

PMID:18414213 PMID:28512736

NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More...

NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22726846 More...

NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:2,712,524...2,730,028
Ensembl chrNW_004624795:2,714,525...2,729,961

G

SRY-box transcription factor 11

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:25741868 PMID:26543203

NCBI chrNW_004624846:4,043,010...4,046,660
Ensembl chrNW_004624846:4,044,893...4,046,248

Coffin-Siris syndrome 1

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12

PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532

NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634

G

AT-rich interaction domain 1B

ISO

ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | 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 Annotator: match by term: Mental retardation, autosomal dominant 12

PMID:1724113 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 More...

NCBI chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853

G

AT-rich interaction domain 2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535

G

arylsulfatase L

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 More...

NCBI chrNW_004624834:1,307,539...1,331,411
Ensembl chrNW_004624834:1,308,159...1,331,463

G

BRD4 interacting chromatin remodeling complex associated protein

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chrNW_004624832:6,171,923...6,237,198
Ensembl chrNW_004624832:6,172,642...6,195,243

G

double PHD fingers 2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

PMID:25741868 PMID:29429572

NCBI chrNW_004624767:21,031,175...21,042,574
Ensembl chrNW_004624767:21,029,515...21,049,895

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868

NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968

G

SWI/SNF related BAF chromatin remodeling complex subunit C2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chrNW_004624802:11,821,686...11,845,407
Ensembl chrNW_004624802:11,821,615...11,845,403

G

SRY-box transcription factor 4

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chrNW_004624756:5,128,848...5,156,174

Coffin-Siris syndrome 10

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 4

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: SOX4-related condition

PMID:25741868 PMID:28492532 PMID:30661772 PMID:35232796 PMID:35887114 More...

NCBI chrNW_004624756:5,128,848...5,156,174

Coffin-Siris syndrome 11

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit D1

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 11

PMID:25741868 PMID:30879640

NCBI chrNW_004624816:2,213,963...2,227,739
Ensembl chrNW_004624816:2,213,969...2,228,413

Coffin-Siris syndrome 12

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRD4 interacting chromatin remodeling complex associated protein

ISO

ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12

PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675

NCBI chrNW_004624832:6,171,923...6,237,198
Ensembl chrNW_004624832:6,172,642...6,195,243

Coffin-Siris syndrome 2

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 4

ISO

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2

PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More...

NCBI chrNW_004624794:12,042,627...12,113,762
Ensembl chrNW_004624794:12,042,533...12,113,886

G

AT-rich interaction domain 1A

ISO

ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2

PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More...

NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634

G

HR lysine demethylase and nuclear receptor corepressor

ISO

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2

PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532

NCBI chrNW_004624758:17,699,357...17,719,188
Ensembl chrNW_004624758:17,699,400...17,715,482

Coffin-Siris syndrome 3

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

derlin 3

ISO

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

NCBI chrNW_004624747:10,357,560...10,359,779
Ensembl chrNW_004624747:10,357,627...10,359,779

G

matrix metallopeptidase 11

ISO

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

NCBI chrNW_004624747:10,398,167...10,408,397
Ensembl chrNW_004624747:10,398,130...10,408,376

G

solute carrier family 2 member 11

ISO

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

NCBI chrNW_004624747:10,314,718...10,357,501
Ensembl chrNW_004624747:10,315,205...10,344,045

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ISO

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More...

NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719

Coffin-Siris syndrome 4

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ISO

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition

PMID:9536098 PMID:10601012 PMID:15756273 PMID:17576681 PMID:18414213 More...

NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968

Coffin-Siris syndrome 5

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 5

PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 PMID:35980532 More...

NCBI chrNW_004624795:2,712,524...2,730,028
Ensembl chrNW_004624795:2,714,525...2,729,961

Coffin-Siris syndrome 6

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 2

ISO

ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6

PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More...

NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535

G

GRB10 interacting GYF protein 1

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 6

PMID:25741868 PMID:35917186

NCBI chrNW_004624740:16,407,285...16,421,071
Ensembl chrNW_004624740:16,412,321...16,418,935

Coffin-Siris syndrome 7

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

double PHD fingers 2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition

PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137

NCBI chrNW_004624767:21,031,175...21,042,574
Ensembl chrNW_004624767:21,029,515...21,049,895

Coffin-Siris syndrome 8

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit C2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition

PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More...

NCBI chrNW_004624802:11,821,686...11,845,407
Ensembl chrNW_004624802:11,821,615...11,845,403

Coffin-Siris syndrome 9

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 11

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition

PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More...

NCBI chrNW_004624846:4,043,010...4,046,660
Ensembl chrNW_004624846:4,044,893...4,046,248

developmental delay, dysmorphic facies, and brain anomalies

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

U2 small nuclear RNA auxiliary factor 2

ISO

ClinVar Annotator: match by term: Developmental delay, dysmorphic facies, and brain anomalies

PMID:25741868 PMID:28492532 PMID:33057194 PMID:34112922 PMID:35982159 More...

NCBI chrNW_004624832:1,747,237...1,762,080
Ensembl chrNW_004624832:1,747,642...1,761,112

developmental delay, hypotonia, and impaired language

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box and WD repeat domain containing 7

ISO

ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition

PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:30510140 More...

NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cAMP responsive element binding protein 3 like 4

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chrNW_004624885:3,249,747...3,255,210
Ensembl chrNW_004624885:3,250,116...3,254,634

G

CREB regulated transcription coactivator 2

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chrNW_004624885:3,265,079...3,276,594
Ensembl chrNW_004624885:3,264,983...3,277,459

G

DENN domain containing 4B

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chrNW_004624885:3,277,793...3,291,701
Ensembl chrNW_004624885:3,278,578...3,290,980

G

GATA zinc finger domain containing 2B

ISO

ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-related condition | ClinVar Annotator: match by term: GATAD2B-related disorder

PMID:9536098 PMID:11756549 PMID:17576681 PMID:21681106 PMID:23033978 More...

NCBI chrNW_004624885:3,297,191...3,375,908
Ensembl chrNW_004624885:3,362,823...3,375,179

G

jumping translocation breakpoint

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chrNW_004624885:3,247,502...3,249,658
Ensembl chrNW_004624885:3,247,516...3,249,840

G

nucleoporin 210 like

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chrNW_004624885:3,140,355...3,234,360

G

RAB13, member RAS oncogene family

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chrNW_004624885:3,239,581...3,243,539
Ensembl chrNW_004624885:3,239,595...3,243,539

G

ribosomal protein S27

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chrNW_004624885:3,234,338...3,235,747
Ensembl chrNW_004624885:3,234,339...3,235,747

G

solute carrier family 39 member 1

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chrNW_004624885:3,260,673...3,264,636
Ensembl chrNW_004624885:3,260,681...3,264,959

Helsmoortel-Van Der Aa syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activity dependent neuroprotector homeobox

ISO

ClinVar Annotator: match by term: ADNP-related condition | ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome

PMID:18414213 PMID:23160955 PMID:24531329 PMID:25057125 PMID:25169753 More...

NCBI chrNW_004624790:4,822,467...4,854,852
Ensembl chrNW_004624790:4,832,494...4,854,845

intellectual developmental disorder with autistic features and language delay, with or without seizures

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

ISO

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures | ClinVar Annotator: match by term: TANC2-related condition

PMID:23033978 PMID:25741868 PMID:28492532 PMID:28754924 PMID:30021165 More...

NCBI chrNW_004624849:452,848...946,511
Ensembl chrNW_004624849:452,884...940,686

intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transportin 2

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition

PMID:25741868 PMID:34314705

NCBI chrNW_004624901:334,277...351,653
Ensembl chrNW_004624901:334,154...352,060

Koolen de Vries syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ISO

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More...

NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216

G

corticotropin releasing hormone receptor 1

ISO

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chrNW_004624849:2,484,144...2,528,130
Ensembl chrNW_004624849:2,484,109...2,528,223

G

chromosome unknown C11orf65 homolog

ISO

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More...

NCBI chrNW_004624784:3,083,664...3,144,017
Ensembl chrNW_004624784:3,084,385...3,145,517

G

KAT8 regulatory NSL complex subunit 1

ISO

ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More...

NCBI chrNW_004624849:2,129,154...2,317,640
Ensembl chrNW_004624849:2,129,357...2,319,538

G

microtubule associated protein tau

ISO

ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004624849:2,320,887...2,421,099

G

signal peptide peptidase like 2C

ISO

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chrNW_004624849:2,469,076...2,471,365
Ensembl chrNW_004624849:2,468,699...2,471,428

Luo-Schoch-Yamamoto syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ring finger protein 2

ISO

ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome | ClinVar Annotator: match by term: RNF2-associated neurodevelopmental condition

PMID:25741868 PMID:33864376

NCBI chrNW_004624814:8,470,818...8,516,252

NESCAV syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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: NESCAV SYNDROME

PMID:9536098 PMID:17576681 PMID:21376300 PMID:21820098 PMID:22258533 More...

NCBI chrNW_004624847:4,961,552...5,035,125
Ensembl chrNW_004624847:4,961,552...5,035,061

G

RNA polymerase I subunit A

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9

NCBI chrNW_004624749:17,138,352...17,216,039
Ensembl chrNW_004624749:17,138,476...17,215,124

Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 2 catalytic subunit alpha

ISO

ClinVar Annotator: match by term: Houge-Janssens syndrome 3 | ClinVar Annotator: match by term: PPP2CA-related condition

PMID:25741868 PMID:28333917 PMID:28492532 PMID:29051493 PMID:30595372

NCBI chrNW_004624733:38,012,694...38,033,745
Ensembl chrNW_004624733:38,012,392...38,036,914

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain PHD finger transcription factor

ISO

ClinVar Annotator: match by term: BPTF-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More...

NCBI chrNW_004624870:489,359...626,677
Ensembl chrNW_004624870:487,955...626,683

G

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896

G

eukaryotic translation initiation factor 3 subunit F

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

PMID:25741868 PMID:30409806 PMID:33736665

NCBI chrNW_004624766:177,531...184,840

G

palmitoyl-protein thioesterase 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

PMID:25741868 PMID:28492532 PMID:30541466 PMID:31069529 PMID:34849271

NCBI chrNW_004624764:22,542,892...22,577,077
Ensembl chrNW_004624764:22,543,857...22,577,121

G

Rac family small GTPase 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

PMID:25741868 PMID:28886345

NCBI chrNW_004624740:30,912,841...30,933,882
Ensembl chrNW_004624740:30,911,598...30,934,025

G

SR-related CTD associated factor 4

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chrNW_004624745:20,040,416...20,097,764
Ensembl chrNW_004624745:20,040,770...20,097,835

G

SET domain containing 1A, histone lysine methyltransferase

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chrNW_004624782:14,030,425...14,053,679

G

sonic hedgehog signaling molecule

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

PMID:9302262 PMID:15292211 PMID:22897141 PMID:25741868 PMID:28492532 More...

NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068

G

trinucleotide repeat containing adaptor 6B

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chrNW_004624752:8,125,472...8,394,809
Ensembl chrNW_004624752:8,137,532...8,336,877

G

zinc finger MIZ-type containing 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chrNW_004624754:12,106,828...12,299,188
Ensembl chrNW_004624754:12,145,570...12,299,318

neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SPT16 homolog, facilitates chromatin remodeling subunit

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | ClinVar Annotator: match by term: SUPT16H-related condition

PMID:25741868 PMID:28492532 PMID:31924697 PMID:36255738 PMID:38818817

NCBI chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823

neurodevelopmental disorder with eye movement abnormalities and ataxia

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FERM domain containing 5

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia

PMID:25741868 PMID:36206744

NCBI chrNW_004624804:10,906,085...11,240,249
Ensembl chrNW_004624804:10,906,958...11,239,995

neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 A

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643

G

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More...

NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896

neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myocyte enhancer factor 2C

ISO

ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MEF2C-related disorder | ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE

PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004624743:8,072,871...8,235,174
Ensembl chrNW_004624743:8,072,673...8,235,252

neurodevelopmental disorder with speech impairment and dysmorphic facies

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SET domain containing 1A, histone lysine methyltransferase

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies | ClinVar Annotator: match by term: SETD1A-related condition

PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:28492532 More...

NCBI chrNW_004624782:14,030,425...14,053,679

Pierpont syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBL1X/Y related 1

ISO

ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome

PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 More...

NCBI chrNW_004624730:54,835,624...55,013,474
Ensembl chrNW_004624730:54,835,624...54,884,835

Schuurs-Hoeijmakers syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphofurin acidic cluster sorting protein 1

ISO

ClinVar Annotator: match by term: PACS1-related condition | ClinVar Annotator: match by term: Schuurs-Hoeijmakers syndrome

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23159249 PMID:25326635 More...

NCBI chrNW_004624767:20,123,845...20,325,191
Ensembl chrNW_004624767:20,123,725...20,324,967

Sifrim-Hitz-Weiss syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromodomain helicase DNA binding protein 2

ISO

ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome

NCBI chrNW_004624768:10,786,139...10,922,558
Ensembl chrNW_004624768:10,785,815...10,922,790

G

chromodomain helicase DNA binding protein 4

ISO

ClinVar Annotator: match by term: CHD4-related disorder | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome

PMID:9536098 PMID:17576681 PMID:21743468 PMID:22575888 PMID:25741868 More...

NCBI chrNW_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985

Vulto-van Silfout-de Vries syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DEAF1 transcription factor

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 24

PMID:21076407 PMID:23020937 PMID:24726472 PMID:25326635 PMID:25741868 More...

NCBI chrNW_004624766:21,799,282...21,832,267
Ensembl chrNW_004624766:21,799,119...21,833,631

G

discs large MAGUK scaffold protein 4

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 24

NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100

White-Sutton syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GLI family zinc finger 2

ISO

ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452

G

GLI family zinc finger 3

ISO

ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900

G

pogo transposable element derived with ZNF domain

ISO

ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition

PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More...

NCBI chrNW_004624772:19,127,702...19,184,151
Ensembl chrNW_004624772:19,127,702...19,184,048

Xia-Gibbs syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-hook DNA binding motif containing 1

ISO

ClinVar Annotator: match by term: AHDC1-related condition | ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: Xia-Gibbs syndrome

PMID:4067559 PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 More...

NCBI chrNW_004624764:11,416,674...11,482,622
Ensembl chrNW_004624764:11,416,674...11,482,601

Term paths to the root

Path 1
Term	Annotations
disease	14234
Developmental Disease	12524
Neurodevelopmental Disorders	6271
intellectual disability	3989
autosomal dominant intellectual developmental disorder	418
Arboleda-Tham syndrome	1
Bryant-Li-Bhoj neurodevelopmental syndrome +	2
Clark-Baraitser syndrome	1
Coffin-Siris syndrome +	21
Coffin-Siris syndrome 9	1
GAND syndrome	9
Helsmoortel-Van Der Aa syndrome	1
Houge-Janssens Syndrome +	4
Koolen de Vries syndrome	6
Luo-Schoch-Yamamoto syndrome	1
NESCAV syndrome	2
Pierpont syndrome	1
Schuurs-Hoeijmakers syndrome	1
Sifrim-Hitz-Weiss syndrome	2
Vulto-van Silfout-de Vries syndrome	2
White-Sutton syndrome	3
Xia-Gibbs syndrome	1
autosomal dominant intellectual developmental disorder 1	15
autosomal dominant intellectual developmental disorder 10	1
autosomal dominant intellectual developmental disorder 11	1
autosomal dominant intellectual developmental disorder 13	3
autosomal dominant intellectual developmental disorder 19	1
autosomal dominant intellectual developmental disorder 2	1
autosomal dominant intellectual developmental disorder 21	4
autosomal dominant intellectual developmental disorder 22	1
autosomal dominant intellectual developmental disorder 23	1
autosomal dominant intellectual developmental disorder 26	4
autosomal dominant intellectual developmental disorder 29	1
autosomal dominant intellectual developmental disorder 3	1
autosomal dominant intellectual developmental disorder 30	2
autosomal dominant intellectual developmental disorder 31	59
autosomal dominant intellectual developmental disorder 33	1
autosomal dominant intellectual developmental disorder 34	2
autosomal dominant intellectual developmental disorder 35	2
autosomal dominant intellectual developmental disorder 36	1
autosomal dominant intellectual developmental disorder 38	1
autosomal dominant intellectual developmental disorder 39	1
autosomal dominant intellectual developmental disorder 4	1
autosomal dominant intellectual developmental disorder 40	5
autosomal dominant intellectual developmental disorder 41	1
autosomal dominant intellectual developmental disorder 42	1
autosomal dominant intellectual developmental disorder 43	3
autosomal dominant intellectual developmental disorder 44	1
autosomal dominant intellectual developmental disorder 45	2
autosomal dominant intellectual developmental disorder 46	1
autosomal dominant intellectual developmental disorder 47	1
autosomal dominant intellectual developmental disorder 48	2
autosomal dominant intellectual developmental disorder 5	22
autosomal dominant intellectual developmental disorder 50	1
autosomal dominant intellectual developmental disorder 51	1
autosomal dominant intellectual developmental disorder 52	1
autosomal dominant intellectual developmental disorder 53	1
autosomal dominant intellectual developmental disorder 54	1
autosomal dominant intellectual developmental disorder 55	1
autosomal dominant intellectual developmental disorder 56	3
autosomal dominant intellectual developmental disorder 57	3
autosomal dominant intellectual developmental disorder 58	2
autosomal dominant intellectual developmental disorder 59	1
autosomal dominant intellectual developmental disorder 6	34
autosomal dominant intellectual developmental disorder 60 with seizures	2
autosomal dominant intellectual developmental disorder 61	3
autosomal dominant intellectual developmental disorder 62	2
autosomal dominant intellectual developmental disorder 63 with macrocephaly	1
autosomal dominant intellectual developmental disorder 64	2
autosomal dominant intellectual developmental disorder 65	2
autosomal dominant intellectual developmental disorder 66	1
autosomal dominant intellectual developmental disorder 67	1
autosomal dominant intellectual developmental disorder 68	1
autosomal dominant intellectual developmental disorder 69	1
autosomal dominant intellectual developmental disorder 7	47
autosomal dominant intellectual developmental disorder 70	21
autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities	1
autosomal dominant intellectual developmental disorder 72	1
autosomal dominant intellectual developmental disorder 73	1
autosomal dominant intellectual developmental disorder 74	1
autosomal dominant intellectual developmental disorder 75	1
autosomal dominant intellectual developmental disorder 8	70
autosomal dominant intellectual developmental disorder type FRA12A	2
developmental delay, dysmorphic facies, and brain anomalies	1
developmental delay, hypotonia, and impaired language	1
intellectual developmental disorder with autistic features and language delay, with or without seizures	1
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	1
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	0
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	10
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	1
neurodevelopmental disorder with eye movement abnormalities and ataxia	1
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	2
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	1
neurodevelopmental disorder with speech impairment and dysmorphic facies	1
Path 2
Term	Annotations
disease	14234
disease of anatomical entity	13936
nervous system disease	12272
central nervous system disease	11004
brain disease	10320
disease of mental health	7412
developmental disorder of mental health	5046
specific developmental disorder	4184
intellectual disability	3989
autosomal dominant intellectual developmental disorder	418
Arboleda-Tham syndrome	1
Bryant-Li-Bhoj neurodevelopmental syndrome +	2
Clark-Baraitser syndrome	1
Coffin-Siris syndrome +	21
Coffin-Siris syndrome 9	1
GAND syndrome	9
Helsmoortel-Van Der Aa syndrome	1
Houge-Janssens Syndrome +	4
Koolen de Vries syndrome	6
Luo-Schoch-Yamamoto syndrome	1
NESCAV syndrome	2
Pierpont syndrome	1
Schuurs-Hoeijmakers syndrome	1
Sifrim-Hitz-Weiss syndrome	2
Vulto-van Silfout-de Vries syndrome	2
White-Sutton syndrome	3
Xia-Gibbs syndrome	1
autosomal dominant intellectual developmental disorder 1	15
autosomal dominant intellectual developmental disorder 10	1
autosomal dominant intellectual developmental disorder 11	1
autosomal dominant intellectual developmental disorder 13	3
autosomal dominant intellectual developmental disorder 19	1
autosomal dominant intellectual developmental disorder 2	1
autosomal dominant intellectual developmental disorder 21	4
autosomal dominant intellectual developmental disorder 22	1
autosomal dominant intellectual developmental disorder 23	1
autosomal dominant intellectual developmental disorder 26	4
autosomal dominant intellectual developmental disorder 29	1
autosomal dominant intellectual developmental disorder 3	1
autosomal dominant intellectual developmental disorder 30	2
autosomal dominant intellectual developmental disorder 31	59
autosomal dominant intellectual developmental disorder 33	1
autosomal dominant intellectual developmental disorder 34	2
autosomal dominant intellectual developmental disorder 35	2
autosomal dominant intellectual developmental disorder 36	1
autosomal dominant intellectual developmental disorder 38	1
autosomal dominant intellectual developmental disorder 39	1
autosomal dominant intellectual developmental disorder 4	1
autosomal dominant intellectual developmental disorder 40	5
autosomal dominant intellectual developmental disorder 41	1
autosomal dominant intellectual developmental disorder 42	1
autosomal dominant intellectual developmental disorder 43	3
autosomal dominant intellectual developmental disorder 44	1
autosomal dominant intellectual developmental disorder 45	2
autosomal dominant intellectual developmental disorder 46	1
autosomal dominant intellectual developmental disorder 47	1
autosomal dominant intellectual developmental disorder 48	2
autosomal dominant intellectual developmental disorder 5	22
autosomal dominant intellectual developmental disorder 50	1
autosomal dominant intellectual developmental disorder 51	1
autosomal dominant intellectual developmental disorder 52	1
autosomal dominant intellectual developmental disorder 53	1
autosomal dominant intellectual developmental disorder 54	1
autosomal dominant intellectual developmental disorder 55	1
autosomal dominant intellectual developmental disorder 56	3
autosomal dominant intellectual developmental disorder 57	3
autosomal dominant intellectual developmental disorder 58	2
autosomal dominant intellectual developmental disorder 59	1
autosomal dominant intellectual developmental disorder 6	34
autosomal dominant intellectual developmental disorder 60 with seizures	2
autosomal dominant intellectual developmental disorder 61	3
autosomal dominant intellectual developmental disorder 62	2
autosomal dominant intellectual developmental disorder 63 with macrocephaly	1
autosomal dominant intellectual developmental disorder 64	2
autosomal dominant intellectual developmental disorder 65	2
autosomal dominant intellectual developmental disorder 66	1
autosomal dominant intellectual developmental disorder 67	1
autosomal dominant intellectual developmental disorder 68	1
autosomal dominant intellectual developmental disorder 69	1
autosomal dominant intellectual developmental disorder 7	47
autosomal dominant intellectual developmental disorder 70	21
autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities	1
autosomal dominant intellectual developmental disorder 72	1
autosomal dominant intellectual developmental disorder 73	1
autosomal dominant intellectual developmental disorder 74	1
autosomal dominant intellectual developmental disorder 75	1
autosomal dominant intellectual developmental disorder 8	70
autosomal dominant intellectual developmental disorder type FRA12A	2
developmental delay, dysmorphic facies, and brain anomalies	1
developmental delay, hypotonia, and impaired language	1
intellectual developmental disorder with autistic features and language delay, with or without seizures	1
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	1
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	0
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	10
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	1
neurodevelopmental disorder with eye movement abnormalities and ataxia	1
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	2
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	1
neurodevelopmental disorder with speech impairment and dysmorphic facies	1

paths to the root