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 (477)

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

ISS

NCBI chr12:24,104,187...25,194,123
Ensembl chr12:29,740,523...30,830,386

G

capicua transcriptional repressor

ISO

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

NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:89,981,743...90,008,354

G

clathrin heavy chain

ISO

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

NCBI chr10:72,014,984...72,073,308
Ensembl chr10:72,014,986...72,070,691

G

casein kinase 2 beta

ISO

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

NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,704,904...3,710,525

G

DEAF1 transcription factor

ISO

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

NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:205,831,336...205,865,106

G

G protein subunit beta 1

ISO

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

NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:171,357,797...171,424,488

G

glutamate ionotropic receptor NMDA type subunit 2B

ISO

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

NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570

G

jumonji and AT-rich interaction domain containing 2

ISO

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

NCBI chr17:19,983,217...20,163,598
Ensembl chr17:19,983,217...20,161,970

G

potassium voltage-gated channel subfamily Q member 5

ISO

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

NCBI chr 9:31,326,595...31,892,399
Ensembl chr 9:31,329,497...31,891,304

G

kinesin family member 1A

ISO

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

PMID:25741868 PMID:27034427

NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777

G

methyl-CpG binding domain protein 5

ISS

NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:54,075,084...54,139,389

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 chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838

G

prickle planar cell polarity protein 2

ISO

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

NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:126,426,771...126,772,008

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 chr 1:219,673,200...220,557,610
Ensembl chr 1:229,099,542...229,984,172

G

zinc finger and BTB domain containing 18

ISS

NCBI chr13:91,971,602...91,980,058
Ensembl chr13:91,969,755...91,980,386

G

zinc finger protein 292

ISO

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

NCBI chr 5:54,184,174...54,264,454
Ensembl chr 5:54,184,174...54,304,147

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 chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099

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 chr 3:53,614,143...53,701,933
Ensembl chr 3:53,614,171...53,701,941

G

Rho GTPase activating protein 15

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:48,382,904...49,011,378

G

cadherin 15

ISO

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

NCBI chr19:67,812,169...67,834,986
Ensembl chr19:67,812,164...67,834,985

G

capicua transcriptional repressor

ISO

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

NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:89,981,743...90,008,354

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 chr 3:54,276,187...54,376,373
Ensembl chr 3:54,276,239...54,376,916

G

glycosyltransferase-like domain containing 1

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chr 3:49,176,110...49,571,594
Ensembl chr 3:49,176,110...49,571,843

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 chr 3:54,441,266...54,591,630
Ensembl chr 3:54,441,310...54,594,813

G

kynureninase

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chr 3:48,188,286...48,338,996
Ensembl chr 3:48,188,182...48,339,014

G

LDL receptor related protein 1B

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chr 3:45,004,001...47,125,147
Ensembl chr 3:45,004,689...45,957,692

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD
RGD

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

NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:54,075,084...54,139,389

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 chr 3:53,700,046...53,743,293
Ensembl chr 3:53,703,615...53,742,264

G

TAO kinase 1

ISO

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

NCBI chr10:62,871,198...62,989,049
Ensembl chr10:62,871,198...62,957,595

G

WD repeat and FYVE domain containing 3

ISO

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

NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,911,151...8,114,993

G

zinc finger E-box binding homeobox 2

ISO

ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder

PMID:21981781 PMID:23632792

NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:49,624,028...49,754,323

G

zinc finger, MYND-type containing 11

ISO

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

NCBI chr17:65,226,907...65,323,278
Ensembl chr17:65,234,045...65,323,276

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 chr 7:109,572,838...109,698,516
Ensembl chr 7:111,455,006...111,577,757

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 chr 3:144,929,195...145,052,723
Ensembl chr 3:165,389,293...165,510,498

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 chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116

G

HIVEP zinc finger 2

ISO

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

NCBI chr 1:10,176,880...10,376,089
Ensembl chr 1:10,179,402...10,376,089

G

mediator complex subunit 13

ISO

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

NCBI chr10:71,584,354...71,674,614
Ensembl chr10:71,584,354...71,673,901

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 chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662

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 chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833

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 chr19:50,431,478...50,481,013
Ensembl chr19:50,431,689...50,481,012

G

glutamate ionotropic receptor NMDA type subunit 2A

ISO

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

NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378

G

kinesin family member 11

ISO

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

NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250

G

multiple PDZ domain crumbs cell polarity complex component

ISO

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

NCBI chr 5:100,812,121...100,966,566
Ensembl chr 5:100,812,124...100,966,504

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 chr13:91,971,602...91,980,058
Ensembl chr13:91,969,755...91,980,386

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 chr 4:147,772,955...147,850,669
Ensembl chr 4:147,773,028...147,850,667

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
ISS

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
OMIM:615834

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:17576681 PMID:21680558 PMID:21681106 PMID:21844811 More...

NCBI chr12:24,104,187...25,194,123
Ensembl chr12:29,740,523...30,830,386

G

polypeptide N-acetylgalactosaminyltransferase 17

ISO

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

PMID:21844811 PMID:31690835

NCBI chr12:25,323,230...25,781,897
Ensembl chr12:30,959,447...31,418,149

G

potassium channel tetramerization domain containing 7

ISO

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

PMID:21844811 PMID:31690835

NCBI chr12:26,520,969...26,532,327
Ensembl chr12:32,159,297...32,168,292

G

lysine methyltransferase 2D

ISO

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

NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072

G

MYC binding protein 2

ISO

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

PMID:25741868 PMID:36200388

NCBI chr15:86,352,061...86,590,126
Ensembl chr15:86,352,061...86,590,325

G

RAB guanine nucleotide exchange factor 1

ISO

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

PMID:21844811 PMID:31690835

NCBI chr12:32,096,338...32,139,949
Ensembl chr12:32,096,338...32,139,040

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 chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305

G

Sbds, ribosome maturation factor

ISO

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

PMID:21844811 PMID:31690835

NCBI chr12:32,056,649...32,065,816
Ensembl chr12:32,056,518...32,065,813

G

transmembrane protein 248

ISO

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

PMID:21844811 PMID:31690835

NCBI chr12:32,069,113...32,093,380
Ensembl chr12:32,069,120...32,090,634

G

tRNA-yW synthesizing protein 1 homolog

ISO

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

PMID:21844811 PMID:31690835

NCBI chr12:26,332,020...26,418,286
Ensembl chr12:31,968,198...32,054,647

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 chr18:74,465,616...74,827,455
Ensembl chr18:74,465,616...74,827,455

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDH15-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 3

OMIM
CTD
ClinVar

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

NCBI chr19:67,812,169...67,834,986
Ensembl chr19:67,812,164...67,834,985

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 chr 7:35,622,267...35,731,904
Ensembl chr 7:35,622,461...35,731,904

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 chr17:65,226,907...65,323,278
Ensembl chr17:65,234,045...65,323,276

autosomal dominant intellectual developmental disorder 31

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and KH domain containing 1

ISO

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

NCBI chr18:28,436,296...28,534,954
Ensembl chr18:28,436,394...28,534,954

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 chr18:28,547,205...28,554,383
Ensembl chr18:28,547,205...28,554,383

G

bromodomain containing 8

ISO

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

NCBI chr18:26,455,824...26,504,106
Ensembl chr18:26,455,512...26,504,006

G

CD14 molecule

ISO

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

NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292

G

cell division cycle 23

ISO

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

NCBI chr18:26,511,019...26,534,872
Ensembl chr18:26,510,355...26,532,646

G

cell division cycle 25C

ISO

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

NCBI chr18:26,608,483...26,630,292
Ensembl chr18:26,609,959...26,630,292

G

catenin alpha 1

ISO

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

NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007

G

CXXC finger protein 5

ISO

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

NCBI chr18:27,701,650...27,732,633
Ensembl chr18:27,701,188...27,732,635

G

cysteine-rich transmembrane module containing 1

ISO

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

NCBI chr18:28,219,861...28,287,574
Ensembl chr18:28,220,004...28,287,574

G

diaphanous-related formin 1

ISO

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

NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,920,889...30,020,280

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 chr18:27,269,350...27,303,453
Ensembl chr18:27,543,438...27,577,535

G

DND microRNA-mediated repression inhibitor 1

ISO

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

NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,652,712...28,655,336

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 chr18:27,309,711...27,319,106
Ensembl chr18:27,583,195...27,593,195

G

early growth response 1

ISO

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

NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843

G

eukaryotic translation initiation factor 4E binding protein 3

ISO

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

NCBI chr18:28,540,324...28,542,070
Ensembl chr18:28,540,058...28,542,061

G

eukaryotic translation termination factor 1

ISO

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

NCBI chr18:26,776,518...26,804,857
Ensembl chr18:26,777,858...26,804,613

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 chr18:26,314,440...26,395,260
Ensembl chr18:26,314,440...26,380,732

G

family with sequence similarity 53, member C

ISO

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

NCBI chr18:26,638,781...26,652,294
Ensembl chr18:26,638,062...26,652,290

G

GDNF family receptor alpha 3

ISO

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

NCBI chr18:26,297,828...26,326,105
Ensembl chr18:26,571,921...26,600,225

G

histidyl-tRNA synthetase 1

ISO

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

NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712

G

histidyl-tRNA synthetase 2, mitochondrial

ISO

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

NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,672,824...28,682,359

G

heparin-binding EGF-like growth factor

ISO

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

NCBI chr18:28,380,337...28,390,220
Ensembl chr18:28,380,337...28,390,220

G

heterogeneous nuclear ribonucleoprotein A0

ISO

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

NCBI chr17:6,513,129...6,515,786
Ensembl chr17:6,512,629...6,516,127

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 chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398

G

IgA-inducing protein

ISO

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

NCBI chr18:28,178,048...28,179,539

G

IK cytokine

ISO

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

NCBI chr18:28,632,025...28,646,829
Ensembl chr18:28,631,616...28,653,463

G

lysine demethylase 3B

ISO

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

NCBI chr18:26,655,004...26,710,814
Ensembl chr18:26,655,687...26,710,814

G

kinesin family member 20A

ISO

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

NCBI chr18:26,504,422...26,512,908
Ensembl chr18:26,504,072...26,512,909

G

kelch-like family member 3

ISO

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

NCBI chr17:6,528,114...6,651,338
Ensembl chr17:6,528,487...6,651,338

G

leucine rich repeat transmembrane neuronal 2

ISO

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

NCBI chr18:26,817,816...26,822,864
Ensembl chr18:27,091,919...27,096,967

G

matrin 3

ISO

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

NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,432,179...27,470,421

G

myotilin

ISO

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

NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,956,191...36,976,265

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 chr18:27,238,999...27,241,060
Ensembl chr18:27,513,089...27,515,182

G

NADH:ubiquinone oxidoreductase subunit A2

ISO

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

NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,629,795...28,631,884

G

NME/NM23 family member 5

ISO

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

NCBI chr18:26,437,705...26,454,828
Ensembl chr18:26,437,781...26,454,828

G

neuregulin 2

ISO

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

NCBI chr18:27,616,542...27,798,505
Ensembl chr18:27,890,578...28,072,538

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 chr18:27,199,762...27,218,359
Ensembl chr 1:188,508,623...188,508,997
Ensembl chr18:188,508,623...188,508,997

G

protocadherin alpha 1

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 10

ISO

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

G

protocadherin alpha 11

ISO

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

G

protocadherin alpha 12

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 13

ISO

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

G

protocadherin alpha 2

ISO

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

G

protocadherin alpha 3

ISO

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

G

protocadherin alpha 4

ISO

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

NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 5

ISO

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

G

protocadherin alpha 6

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 7

ISO

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

G

protocadherin alpha 8

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin alpha 9

ISO

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

G

protocadherin alpha subfamily C, 1

ISO

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

G

protocadherin alpha subfamily C, 2

ISO

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

Ensembl chr18:28,855,256...29,120,227

G

protocadherin beta 1

ISO

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

NCBI chr18:28,913,835...28,916,746
Ensembl chr18:29,187,848...29,190,759

G

protocadherin beta 13

ISO

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

NCBI chr18:29,146,017...29,149,871

G

protocadherin beta 15

ISO

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

NCBI chr18:29,178,869...29,183,847

G

protocadherin beta 16

ISO

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

NCBI chr18:29,192,260...29,195,669

G

protocadherin beta 19

ISO

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

NCBI chr18:29,204,838...29,207,646

G

protocadherin beta 2

ISO

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

NCBI chr18:29,005,996...29,008,782
Ensembl chr18:29,280,004...29,283,300

G

protocadherin beta 20

ISO

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

NCBI chr18:29,211,878...29,215,272
Ensembl chr18:29,454,999...29,489,427

G

protocadherin beta 21

ISO

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

NCBI chr18:29,218,209...29,221,142

G

protocadherin beta 22

ISO

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

NCBI chr18:29,223,028...29,229,132
Ensembl chr18:29,495,389...29,503,336

G

protocadherin beta 3

ISO

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

NCBI chr18:29,011,667...29,014,221

G

protocadherin beta 5

ISO

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

NCBI chr18:29,302,466...29,305,048

G

protocadherin beta 8

ISO

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

NCBI chr18:29,065,466...29,067,805
Ensembl chr18:29,339,176...29,342,854

G

protocadherin gamma subfamily A, 1

ISO

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

NCBI chr18:29,487,404...29,667,865

G

protocadherin gamma subfamily A, 10

ISO

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

NCBI chr18:29,574,693...29,667,865

G

protocadherin gamma subfamily A, 11

ISO

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

NCBI chr18:29,583,373...29,667,865

G

protocadherin gamma subfamily A, 12

ISO

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

NCBI chr18:29,592,664...29,667,865

G

protocadherin gamma subfamily A, 2

ISO

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

NCBI chr18:29,493,954...29,667,865

G

protocadherin gamma subfamily A, 3

ISO

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

NCBI chr18:29,499,148...29,667,865

G

protocadherin gamma subfamily A, 4

ISO

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

NCBI chr18:29,508,152...29,543,103

G

protocadherin gamma subfamily A, 5

ISO

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

NCBI chr18:29,519,705...29,667,865

G

protocadherin gamma subfamily A, 7

ISO

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

NCBI chr18:29,543,018...29,667,865

G

protocadherin gamma subfamily A, 8

ISO

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

NCBI chr18:29,553,882...29,667,865

G

protocadherin gamma subfamily A, 9

ISO

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

NCBI chr18:29,564,614...29,667,865

G

protocadherin gamma subfamily B, 1

ISO

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

NCBI chr18:29,501,739...29,508,024

G

protocadherin gamma subfamily B, 7

ISO

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

NCBI chr18:29,579,129...29,667,868
Ensembl chr18:29,799,669...29,919,101

G

protocadherin gamma subfamily B, 8

ISO

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

NCBI chr18:29,588,327...29,667,865

G

protocadherin gamma subfamily C, 3

ISO

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

NCBI chr18:29,884,245...29,919,095

G

protocadherin gamma subfamily C, 5

ISO

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

NCBI chr18:29,647,201...29,666,336

G

prefoldin subunit 1

ISO

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

NCBI chr18:28,288,210...28,341,198
Ensembl chr18:28,287,913...28,341,123

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 chr18:26,281,719...26,316,583
Ensembl chr18:26,281,941...26,316,583

G

proline-rich basic protein 1

ISO

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

NCBI chr18:27,516,599...27,521,443
Ensembl chr18:27,516,332...27,523,808

G

pleckstrin and Sec7 domain containing 2

ISO

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

NCBI chr18:27,564,912...27,616,674
Ensembl chr18:27,839,627...27,890,709

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 chr18:27,885,071...27,905,509
Ensembl chr18:28,125,126...28,211,111

G

receptor accessory protein 2

ISO

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

NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,712,426...26,721,278

G

SIL1 nucleotide exchange factor

ISO

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

NCBI chr18:26,872,423...27,104,365
Ensembl chr18:27,146,527...27,307,693

G

solute carrier family 23 member 1

ISO

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

NCBI chr18:27,490,549...27,504,563
Ensembl chr18:27,490,374...27,504,702

G

solute carrier family 25 member 2

ISO

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

NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,703,871...29,708,827

G

solute carrier family 35, member A4

ISO

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

NCBI chr18:28,555,471...28,558,639
Ensembl chr18:28,545,756...28,558,725

G

solute carrier family 4 member 9

ISO

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

NCBI chr18:28,402,793...28,418,638
Ensembl chr18:28,402,793...28,415,594

G

spermatogenesis associated 24

ISO

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

NCBI chr18:27,249,047...27,257,129
Ensembl chr18:27,522,344...27,531,147

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 chr17:6,741,504...7,221,685
Ensembl chr17:6,747,646...7,230,282

G

steroid receptor RNA activator 1

ISO

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

NCBI chr18:28,543,347...28,547,474
Ensembl chr18:28,543,348...28,546,575

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 chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947

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 chr18:29,704,182...29,713,382
Ensembl chr18:29,705,920...29,712,712

G

transmembrane and coiled-coil domains 6

ISO

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

NCBI chr18:28,623,269...28,629,864
Ensembl chr18:28,623,269...28,629,864

G

ubiquitin-conjugating enzyme E2D 2

ISO

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

NCBI chr18:27,638,399...27,680,386
Ensembl chr18:27,638,527...27,683,074

G

Wnt family member 8A

ISO

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

NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,411,833...26,417,426

G

zinc finger, matrin type 2

ISO

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

NCBI chr18:28,683,617...28,688,252
Ensembl chr18:28,683,603...28,687,257

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 chr 4:7,589,386...8,508,666
Ensembl chr 4:8,324,843...9,242,209

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 chr 2:29,617,202...29,721,734
Ensembl chr 2:29,617,023...29,721,729

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 chr 2:29,556,831...29,616,960
Ensembl chr 2:29,557,336...29,616,960

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:25434003 PMID:25533962 PMID:25741868 PMID:25741882 More...

NCBI chr 9:21,797,884...21,801,693
Ensembl chr 9:21,797,887...21,802,216

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:25434003 PMID:25533962 More...

NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:21,767,688...21,797,996

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 A alpha

ISO

ClinVar Annotator: match by term: Houge-Janssens syndrome 2 | ClinVar Annotator: match by term: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | ClinVar Annotator: match by term: PPP2R1A-related disorder

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

NCBI chr 1:69,213,198...69,232,441
Ensembl chr 1:69,213,038...69,238,242

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
ISS

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38
OMIM:616393

OMIM
ClinVar
MouseDO

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

NCBI chr 3:188,643,455...188,652,633
Ensembl chr 3:188,643,458...188,677,712

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
ISS

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | ClinVar Annotator: match by term: MYT1L-related condition
OMIM:616521

OMIM
ClinVar
MouseDO

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

NCBI chr 6:46,164,742...46,564,234
Ensembl chr 6:52,155,754...52,291,828

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 chr 8:41,123,692...41,663,528
Ensembl chr 8:41,123,878...41,664,147

autosomal dominant intellectual developmental disorder 40

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: Intellectual disability, autosomal dominant 40

PMID:25741868 PMID:28492532

NCBI chr14:85,059,166...85,148,121
Ensembl chr14:85,059,191...85,148,485

G

cell division cycle 16

ISO

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

NCBI chr16:82,475,234...82,498,797
Ensembl chr16:82,474,523...82,498,765

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 chr16:82,436,172...82,447,144
Ensembl chr16:82,434,823...82,458,984

G

lysine methyltransferase 2E

ISO

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

PMID:25741868 PMID:28492532

NCBI chr 4:12,550,570...12,655,329
Ensembl chr 4:12,550,570...12,619,721

G

trio Rho guanine nucleotide exchange factor

ISO

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

NCBI chr 2:80,235,485...80,531,824
Ensembl chr 2:80,235,485...80,531,612

G

UPF3A, regulator of nonsense mediated mRNA decay

ISO

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

NCBI chr16:75,757,442...75,768,478
Ensembl chr16:82,459,906...82,470,686

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 chr 2:106,718,811...106,857,989
Ensembl chr 2:106,730,665...106,857,989

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 chr 5:166,075,508...166,142,223
Ensembl chr 5:171,357,797...171,424,488

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 chr 1:10,176,880...10,376,089
Ensembl chr 1:10,179,402...10,376,089

G

glutaminyl-tRNA synthetase 1

ISO

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

PMID:24656866 PMID:25741868 PMID:28492532

NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:118,086,228...118,094,274

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 chr 3:34,648,421...34,655,453
Ensembl chr 3:34,648,422...34,655,417

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:22495306 PMID:23033978 PMID:23934111 More...

NCBI chr 2:80,235,485...80,531,824
Ensembl chr 2:80,235,485...80,531,612

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 chr 1:80,853,920...80,880,537
Ensembl chr 1:89,981,743...90,008,354

G

platelet-activating factor acetylhydrolase 1b, catalytic subunit 3

ISO

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

NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611

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 chr 9:31,326,595...31,892,399
Ensembl chr 9:31,329,497...31,891,304

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: 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 chr 8:101,179,039...101,564,684
Ensembl chr 8:110,058,056...110,443,665

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 chr12:16,150,411...16,170,864
Ensembl chr12:16,128,649...16,172,109

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 chr15:10,837,252...11,482,037
Ensembl chr15:11,131,358...11,482,040

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 chr20:4,937,974...4,939,549
Ensembl chr20:4,937,674...4,939,885

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 chr20:5,102,334...5,111,615
Ensembl chr20:5,102,335...5,110,974

G

collagen type XI alpha 2 chain

ISO

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

NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648

G

cutA divalent cation tolerance homolog

ISO

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

NCBI chr20:5,022,956...5,024,580
Ensembl chr20:5,024,816...5,026,631

G

death-domain associated protein

ISO

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

NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,971,941...4,977,720

G

hydroxysteroid (17-beta) dehydrogenase 8

ISO

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

NCBI chr20:4,828,571...4,830,635
Ensembl chr20:4,828,608...4,830,634

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 chr20:5,138,553...5,204,189
Ensembl chr20:5,118,834...5,204,184

G

kinesin family member C1

ISO

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

NCBI chr20:5,000,929...5,018,967
Ensembl chr20:5,000,648...5,018,988

G

microRNA 219a-1

ISO

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

NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,831,580...4,831,689

G

prefoldin subunit 6

ISO

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

NCBI chr20:4,945,959...4,947,433
Ensembl chr20:4,947,844...4,949,318

G

PHD finger protein 1

ISO

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

NCBI chr20:5,019,650...5,024,732
Ensembl chr20:5,019,673...5,024,731

G

ral guanine nucleotide dissociation stimulator like 2

ISO

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

NCBI chr20:4,948,495...4,956,774
Ensembl chr20:4,950,381...4,958,135

G

ring finger protein 1

ISO

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

NCBI chr20:4,832,013...4,835,516
Ensembl chr20:4,831,993...4,835,513

G

ribosomal protein S18

ISO

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

NCBI chr20:4,933,741...4,937,423
Ensembl chr20:4,917,095...4,937,423

G

retinoid X receptor beta

ISO

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

NCBI chr20:4,818,707...4,824,968
Ensembl chr20:4,818,709...4,825,359

G

solute carrier family 39 member 7

ISO

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

NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,824,688...4,828,430

G

small integral membrane protein 40

ISO

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

NCBI chr20:4,978,658...4,989,050
Ensembl chr20:4,980,539...4,984,723

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr20:5,028,226...5,058,519
Ensembl chr20:5,026,707...5,057,751

G

TAP binding protein

ISO

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

NCBI chr20:4,958,821...4,967,958
Ensembl chr20:4,959,926...4,971,834

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 chr20:5,204,682...5,217,080
Ensembl chr17:12,088,037...12,088,606
Ensembl chr20:12,088,037...12,088,606

G

VPS52 subunit of GARP complex

ISO

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

NCBI chr20:4,920,715...4,931,685
Ensembl chr20:4,923,876...4,933,458

G

WD repeat domain 46

ISO

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

NCBI chr20:4,939,721...4,947,619
Ensembl chr20:4,939,732...4,947,741

G

zinc finger and BTB domain containing 22

ISO

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

NCBI chr20:4,966,331...4,969,853
Ensembl chr20:4,967,718...4,970,699

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 chr20:5,059,296...5,069,422
Ensembl chr20:5,059,297...5,067,144

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 chr 2:137,608,883...137,671,618
Ensembl chr 2:137,608,797...137,671,619

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 chr 1:210,429,672...210,479,042
Ensembl chr 1:210,430,127...210,479,035

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 chr 2:176,644,393...176,780,848
Ensembl chr 2:176,644,924...176,780,847

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:28492532 More...

NCBI chr18:56,648,779...56,711,505
Ensembl chr18:56,649,025...56,711,504

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 chr14:85,059,166...85,148,121
Ensembl chr14:85,059,191...85,148,485

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 chr20:31,811,817...31,838,562
Ensembl chr20:32,354,439...32,381,264

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 chr10:72,014,984...72,073,308
Ensembl chr10:72,014,986...72,070,691

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 chr 8:4,789,415...4,830,035
Ensembl chr 8:13,074,279...13,114,894

G

peptidyl-tRNA hydrolase 2

ISO

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

NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,985,245...72,045,352

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 chr12:24,104,187...25,194,123
Ensembl chr12:29,740,523...30,830,386

G

mannose receptor, C type 2

ISO

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

NCBI chr10:90,261,986...90,323,187
Ensembl chr10:90,761,878...90,823,055

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 chr10:90,648,623...90,748,427
Ensembl chr10:90,653,851...90,748,428

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 chr 3:33,732,319...33,743,433

G

SET like protein

ISO

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

NCBI chr19:53,561,262...53,562,780
Ensembl chr19:70,458,522...70,461,162

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 chr15:3,504,017...3,563,050
Ensembl chr15:3,553,294...3,612,310

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 chr 4:167,768,437...167,825,706
Ensembl chr 4:169,549,679...169,559,176

G

Rho GDP dissociation inhibitor beta

ISO

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

NCBI chr 4:171,554,139...171,573,057
Ensembl chr 4:171,554,140...171,573,068

G

ADP-ribosyltransferase 4

ISO

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

NCBI chr 4:169,740,331...169,751,571
Ensembl chr 4:171,471,534...171,481,868

G

activating transcription factor 7 interacting protein

ISO

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

NCBI chr 4:171,117,122...171,202,871
Ensembl chr 4:171,117,122...171,202,867

G

Bcl2-like 14

ISO

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

NCBI chr 4:167,217,561...167,258,723
Ensembl chr 4:168,948,946...168,990,079

G

BLOC-1 related complex subunit 5

ISO

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

NCBI chr 4:167,458,640...167,543,556
Ensembl chr 4:169,204,528...169,271,819

G

similar to human chromosome 12 open reading frame 60

ISO

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

NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:171,425,040...171,484,498

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 chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498

G

cAMP responsive element binding protein-like 2

ISO

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

NCBI chr 4:167,673,359...167,699,299
Ensembl chr 4:169,376,495...169,430,611

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 chr 4:169,577,013...169,589,473
Ensembl chr 4:169,577,003...169,590,474

G

dual specificity phosphatase 16

ISO

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

NCBI chr 4:169,278,118...169,361,508
Ensembl chr 4:169,278,118...169,361,508

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 chr 4:169,931,537...169,964,366
Ensembl chr 4:169,931,440...169,964,365

G

EGFR pathway substrate 8, signaling adaptor

ISO

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

NCBI chr 4:172,119,497...172,291,670
Ensembl chr 4:172,119,497...172,218,160

G

endoplasmic reticulum protein 27

ISO

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

NCBI chr 4:171,535,845...171,552,848
Ensembl chr 4:171,535,847...171,553,072

G

ETS variant transcription factor 6

ISO

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

NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:168,580,138...168,819,802

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 chr 4:168,048,313...168,124,017
Ensembl chr 4:169,779,737...169,828,678

G

G protein-coupled receptor 19

ISO

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

NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:169,436,658...169,471,249

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 chr 4:169,634,896...169,653,627
Ensembl chr 4:169,634,748...169,653,625

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 chr 4:167,943,523...167,955,616
Ensembl chr 4:169,674,846...169,686,965

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 chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570

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 chr 4:168,090,773...168,107,039
Ensembl chr 4:169,822,114...169,838,379

G

guanylate cyclase 2C

ISO

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

NCBI chr 4:171,299,715...171,380,296
Ensembl chr 4:171,299,740...171,380,296

G

H2A.J histone

ISO

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

NCBI chr 4:171,406,922...171,407,406
Ensembl chr 4:171,406,177...171,408,845

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 chr 4:167,974,316...168,003,854
Ensembl chr 4:169,705,668...169,735,199

G

LDL receptor related protein 6

ISO

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

NCBI chr 4:168,997,937...169,131,716
Ensembl chr 4:169,000,968...169,131,716

G

MANSC domain containing 1

ISO

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

NCBI chr 4:167,438,817...167,459,047
Ensembl chr 4:169,170,164...169,189,864

G

matrix Gla protein

ISO

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

NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859

G

phosphodiesterase 6H

ISO

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

NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:171,588,974...171,604,249

G

phospholipase B domain containing 1

ISO

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

NCBI chr 4:169,472,983...169,529,277
Ensembl chr 4:171,204,198...171,260,488

G

protein tyrosine phosphatase, receptor type, O

ISO

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

NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:171,895,232...172,105,903

G

RAS-like, estrogen-regulated, growth-inhibitor

ISO

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

NCBI chr 4:169,981,634...170,089,777
Ensembl chr 4:171,712,794...171,820,903

G

single-pass membrane protein with coiled-coil domains 3

ISO

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

NCBI chr 4:169,719,962...169,728,849
Ensembl chr 4:171,427,002...171,459,592

G

WW domain binding protein 11

ISO

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

NCBI chr 4:171,412,187...171,425,634
Ensembl chr 4:171,412,189...171,425,634

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 chr11:93,859,690...93,868,600
Ensembl chr11:93,859,690...93,868,480

G

phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha

ISO

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

NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:185,317,319...185,360,476

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 chr15:95,956,329...96,009,994
Ensembl chr15:102,363,392...102,417,085

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 chr10:71,584,354...71,674,614
Ensembl chr10:71,584,354...71,673,901

G

WD repeat domain 1

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder 61

NCBI chr14:72,258,032...72,291,768
Ensembl chr14:76,470,176...76,504,080

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 chr10:55,231,558...55,236,786
Ensembl chr10:55,231,440...55,236,750

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 chr10:55,239,397...55,267,780
Ensembl chr10:55,236,869...55,265,839

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:25741868 PMID:26721934 PMID:27418539 PMID:28492532 PMID:28796471 More...

NCBI chr 2:80,235,485...80,531,824
Ensembl chr 2:80,235,485...80,531,612

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 chr 8:86,815,491...87,085,117
Ensembl chr 8:86,814,798...87,082,408

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 chr 5:54,184,174...54,264,454
Ensembl chr 5:54,184,174...54,304,147

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 chr 9:1,245,885...1,324,384
Ensembl chr 9:1,245,899...1,324,384

G

OCRL, inositol polyphosphate-5-phosphatase

ISO

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

NCBI chr X:127,089,508...127,140,362
Ensembl chr X:131,967,355...132,018,298

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 chr 7:35,622,267...35,731,904
Ensembl chr 7:35,622,461...35,731,904

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 chr10:41,710,540...42,030,105
Ensembl chr10:41,711,080...42,030,309

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 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 68

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

NCBI chr 1:94,949,144...94,969,239
Ensembl chr 1:94,949,144...94,968,441

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 chr 9:38,661,709...38,685,244
Ensembl chr 9:46,157,596...46,181,207

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 chr11:31,165,218...31,171,530
Ensembl chr11:44,651,173...44,657,520

G

carbonyl reductase 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:46,346,405...46,348,815
Ensembl chr11:46,378,411...46,381,104
Ensembl chr11:46,378,411...46,381,104

G

carbonyl reductase 3

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:46,478,295...46,486,555
Ensembl chr11:46,478,274...46,486,558

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 chr11:30,181,916...30,191,302
Ensembl chr11:43,668,014...43,677,382

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 chr11:46,670,560...46,690,739
Ensembl chr11:46,670,630...46,690,733

G

claudin 14

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:46,701,940...46,799,049
Ensembl chr11:46,701,940...46,799,096

G

chloride intracellular channel 6

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,737,813...31,780,360
Ensembl chr11:45,223,669...45,267,344

G

crystallin zeta like 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:44,419,099...44,464,366
Ensembl chr11:44,419,103...44,463,793

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 chr11:30,855,566...30,858,386
Ensembl chr11:44,338,646...44,344,482

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 chr11:44,405,794...44,419,099
Ensembl chr11:44,405,804...44,418,791

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 chr11:33,024,376...33,125,931
Ensembl chr11:46,494,058...46,595,601

G

dual specificity tyrosine phosphorylation regulated kinase 1A

ISO
ISS

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
OMIM:614104

OMIM
ClinVar
MouseDO

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

NCBI chr11:47,360,824...47,479,033
Ensembl chr11:47,360,850...47,479,033

G

exosomal polycystin 1 interacting protein

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,307,842...30,325,829
Ensembl chr11:43,793,578...43,811,682

G

eva-1 homolog C

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,089,510...30,163,596
Ensembl chr11:43,576,332...43,649,834

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 chr11:44,351,841...44,377,086
Ensembl chr11:44,351,851...44,377,086

G

holocarboxylase synthetase

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:46,925,491...47,123,111
Ensembl chr11:46,925,491...47,105,082

G

hormonally upregulated Neu-associated kinase

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,641,122...29,758,392
Ensembl chr11:43,127,244...43,244,502

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 chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205

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 chr11:44,099,574...44,131,941
Ensembl chr11:44,099,753...44,131,937

G

interferon gamma receptor 2

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:44,265,703...44,283,975
Ensembl chr11:44,265,703...44,283,975

G

interleukin 10 receptor subunit beta

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:44,132,471...44,154,062
Ensembl chr11:44,132,189...44,154,053

G

intersectin 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,978,590...31,160,645
Ensembl chr11:44,513,186...44,646,598

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 chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247

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 chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168

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 chr11:34,061,702...34,308,758
Ensembl chr11:47,531,312...47,778,348

G

MIS18 kinetochore protein A

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:29,968,030...29,981,058
Ensembl chr11:43,454,161...43,476,264

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 chr11:46,621,575...46,664,315
Ensembl chr11:46,621,548...46,664,309

G

melanocortin 2 receptor accessory protein

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:43,477,382...43,489,118
Ensembl chr11:43,478,001...43,489,118

G

mitochondrial ribosomal protein S6

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:44,778,667...44,834,420
Ensembl chr11:44,781,554...44,834,962

G

oligodendrocyte transcription factor 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,514,379...30,516,521
Ensembl chr11:44,000,281...44,002,592

G

oligodendrocyte transcription factor 2

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:43,961,585...43,964,961
Ensembl chr11:43,958,940...43,968,634

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 chr11:43,758,116...43,787,624
Ensembl chr11:43,758,116...43,787,542

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 chr11:47,152,601...47,158,766
Ensembl chr11:47,148,465...47,160,082

G

regulator of calcineurin 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:45,108,123...45,188,065
Ensembl chr11:45,108,124...45,118,236

G

ripply transcriptional repressor 3

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,648,471...33,656,587
Ensembl chr11:47,118,147...47,131,954

G

RUNX family transcription factor 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925

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 chr11:42,951,254...43,007,293
Ensembl chr11:42,951,254...43,007,293

G

SET domain containing 4

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:32,829,509...32,859,162
Ensembl chr11:46,323,895...46,344,024

G

SIM bHLH transcription factor 2

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:33,414,218...33,453,663
Ensembl chr11:46,883,859...46,923,305

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 chr11:44,799,787...44,802,233
Ensembl chr11:44,790,297...44,818,157

G

small integral membrane protein 11

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:31,533,257...31,543,002
Ensembl chr11:45,019,239...45,028,921

G

superoxide dismutase 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399

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 chr11:44,336,818...44,409,127
Ensembl chr11:44,377,976...44,409,127

G

synaptojanin 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,192,629...30,269,447
Ensembl chr11:43,678,709...43,755,526

G

TIAM Rac1 associated GEF 1

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:42,517,527...42,866,280
Ensembl chr11:42,517,528...42,646,075

G

transmembrane protein 50B

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:30,804,835...30,837,675
Ensembl chr11:44,290,807...44,323,607

G

tetratricopeptide repeat domain 3

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:47,158,766...47,258,612
Ensembl chr11:47,158,792...47,258,418

G

URB1 ribosome biogenesis homolog

ISO

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

PMID:17237124 PMID:23512985 PMID:28492532

NCBI chr11:43,490,633...43,551,398
Ensembl chr11:43,490,633...43,551,767

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 chr11:33,813,467...33,841,883
Ensembl chr11:47,262,071...47,311,045

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 chr20:21,043,694...21,044,862
Ensembl chr20:21,043,317...21,048,483

G

ankyrin 3

ISO

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

NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,601,826...19,084,879

G

AT-rich interaction domain 5B

ISO

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

NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,306,712...20,489,686

G

atonal bHLH transcription factor 7

ISO

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

NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,528,906...25,530,368

G

ciliary associated calcium binding coiled-coil 1

ISO

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

NCBI chr20:20,058,492...20,167,973
Ensembl chr20:20,057,517...20,167,174

G

coiled-coil domain containing 6

ISO

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

NCBI chr20:18,431,243...18,527,227
Ensembl chr20:18,431,243...18,527,227

G

cyclin-dependent kinase 1

ISO

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

NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,265,289...19,280,455

G

catenin alpha 3

ISO

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

NCBI chr20:23,613,016...25,198,699
Ensembl chr20:23,613,016...25,198,805

G

DnaJ heat shock protein family (Hsp40) member C12

ISO

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

NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,222,298...25,266,251

G

early growth response 2

ISO

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

NCBI chr20:21,050,149...21,055,201
Ensembl chr20:21,050,149...21,057,748

G

HECT and RLD domain containing E3 ubiquitin protein ligase 4

ISO

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

NCBI chr20:25,329,972...25,404,657
Ensembl chr20:25,328,822...25,403,372

G

jumonji domain containing 1C

ISO

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

NCBI chr20:21,330,990...21,508,580
Ensembl chr20:21,330,990...21,461,916

G

leucine rich repeat transmembrane neuronal 3

ISO

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

NCBI chr20:24,515,627...24,689,669
Ensembl chr20:24,514,284...24,689,002

G

myopalladin

ISO

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

NCBI chr20:25,435,554...25,521,149
Ensembl chr20:25,435,554...25,521,149

G

nuclear receptor binding factor 2

ISO

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

NCBI chr20:21,308,555...21,326,881
Ensembl chr20:21,290,787...21,325,724

G

receptor accessory protein 3

ISO

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

NCBI chr20:21,493,868...21,578,698
Ensembl chr20:21,492,721...21,577,521

G

Rho-related BTB domain containing 1

ISO

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

NCBI chr20:19,327,142...19,456,121
Ensembl chr20:19,326,212...19,402,057

G

rhotekin 2

ISO

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

NCBI chr20:20,536,628...20,609,951
Ensembl chr20:20,535,553...20,608,899

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 chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863

G

sirtuin 1

ISO

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

NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000

G

transmembrane protein 26

ISO

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

NCBI chr20:19,819,780...19,872,978
Ensembl chr20:19,821,991...19,871,041

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 X, 7

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 chr 8:73,254,051...73,339,209
Ensembl chr 8:82,134,747...82,219,898

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 chr10:13,320,059...13,353,337
Ensembl chr10:13,320,059...13,353,337

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:25954003 PMID:27618451 PMID:28490743 PMID:33875846 More...

NCBI chr 3:187,395,632...187,461,042
Ensembl chr 3:187,395,632...187,461,123

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 chr15:27,253,098...27,282,779
Ensembl chr15:27,253,098...27,282,715

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 chr13:68,152,813...68,189,580
Ensembl chr13:68,152,813...68,189,546

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 chr 3:8,244,515...8,264,545
Ensembl chr 3:28,642,758...28,662,681

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 chr 3:29,814,924...29,826,569
Ensembl chr 3:29,814,924...29,826,581

G

apical junction component 1 homolog

ISO

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

NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:28,774,457...28,800,096

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 chr 3:28,484,590...28,496,338
Ensembl chr 3:28,484,614...28,496,337

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 chr 3:28,133,190...28,140,378
Ensembl chr 3:28,133,191...28,140,687

G

complement C8 gamma chain

ISO

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

NCBI chr 3:28,718,648...28,720,232

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 chr 3:27,779,133...27,944,292
Ensembl chr 3:27,779,166...27,944,285

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 chr 3:8,746,176...8,806,067
Ensembl chr 3:29,144,318...29,204,184

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 chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402

G

coiled-coil domain containing 183

ISO

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

NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:28,826,921...28,835,326

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 chr 3:8,030,548...8,038,370
Ensembl chr 3:28,431,410...28,436,125

G

chloride intracellular channel 3

ISO

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

NCBI chr 3:28,670,176...28,672,166
Ensembl chr 3:28,670,229...28,675,723

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 chr 3:8,054,195...8,057,846
Ensembl chr 3:28,451,219...28,456,118

G

divergent protein kinase domain 1B

ISO

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

NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:29,853,973...29,862,255

G

DNL-type zinc finger

ISO

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

NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:29,568,041...29,569,996

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 chr 3:28,168,466...28,177,173
Ensembl chr 3:28,168,547...28,177,173

G

dipeptidylpeptidase 7

ISO

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

NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:28,563,240...28,567,492

G

endothelial differentiation-related factor 1

ISO

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

NCBI chr 3:28,764,906...28,779,499

G

EGF-like-domain, multiple 7

ISO

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

NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:29,802,690...29,814,951

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 chr 3:27,978,888...28,127,178
Ensembl chr 3:27,978,888...28,127,349

G

ectonucleoside triphosphate diphosphohydrolase 2

ISO

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

NCBI chr 3:28,611,722...28,617,237
Ensembl chr 3:28,611,772...28,618,184

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 chr 3:28,283,392...28,295,686
Ensembl chr 3:28,285,777...28,293,686

G

endosome associated trafficking regulator 1

ISO

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

NCBI chr 3:29,599,059...29,605,780
Ensembl chr 3:29,599,059...29,605,898

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 chr 3:28,720,670...28,725,237
Ensembl chr 3:28,720,778...28,725,235

G

fucosyltransferase 7

ISO

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

NCBI chr 3:28,635,913...28,640,407
Ensembl chr 3:28,637,107...28,641,388

G

G-protein signaling modulator 1

ISO

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

NCBI chr 3:29,538,929...29,565,921
Ensembl chr 3:29,526,802...29,565,920

G

glutamate ionotropic receptor NMDA type subunit 1

ISO

ClinVar Annotator: match by term: GRIN1-related disorder | 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 chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754

G

inositol polyphosphate-5-phosphatase E

ISO

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

NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:29,614,868...29,627,542

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 chr 3:8,682,964...8,736,615
Ensembl chr 3:29,081,321...29,134,768

G

lipocalin 10

ISO

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

NCBI chr 3:28,888,901...28,892,454
Ensembl chr 3:28,888,860...28,892,453

G

lipocalin 12

ISO

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

NCBI chr 3:28,710,557...28,713,537
Ensembl chr 3:28,707,042...28,720,501

G

lipocalin 6

ISO

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

NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:28,882,133...28,887,694

G

lipocalin 8

ISO

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

NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:28,866,061...28,869,045

G

LIM homeobox 3

ISO

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

NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:29,424,620...29,432,637

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 chr 3:8,102,361...8,103,687
Ensembl chr 3:28,500,517...28,501,843

G

MAM domain containing 4

ISO

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

NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:28,780,523...28,789,139

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 chr 3:28,539,778...28,563,155
Ensembl chr 3:28,541,347...28,563,154

G

microRNA 126a

ISO

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

NCBI chr 3:29,813,150...29,813,267

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 chr 3:7,780,658...7,781,576
Ensembl chr 3:28,162,197...28,181,250

G

NACC family member 2

ISO

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

NCBI chr 3:29,278,077...29,345,098
Ensembl chr 3:29,281,190...29,344,840

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 chr 3:8,062,629...8,070,873
Ensembl chr 3:28,460,797...28,469,018

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 chr 3:28,409,045...28,425,564
Ensembl chr 3:28,409,050...28,425,564

G

notch receptor 1

ISO

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

NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613

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 chr 3:28,293,643...28,309,828
Ensembl chr 3:28,293,658...28,304,022

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 chr 3:28,618,601...28,624,591

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 chr 3:7,992,582...7,995,136
Ensembl chr 3:28,390,733...28,393,453

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 chr 3:28,260,018...28,268,790
Ensembl chr 3:28,260,004...28,268,789

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 chr 3:28,672,906...28,676,252
Ensembl chr 3:28,672,906...28,674,466

G

phosphohistidine phosphatase 1

ISO

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

NCBI chr 3:28,791,062...28,792,905

G

peptidase, mitochondrial processing subunit alpha

ISO

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

NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:29,604,232...29,614,935

G

patatin-like phospholipase domain containing 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 chr 3:28,180,670...28,259,673
Ensembl chr 3:28,180,751...28,259,672

G

prostaglandin D2 synthase

ISO

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

NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:28,680,044...28,682,978

G

quiescin sulfhydryl oxidase 2

ISO

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

NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:29,433,091...29,463,036

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 chr 3:28,800,802...28,826,722
Ensembl chr 3:28,800,802...28,826,722

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 chr 3:8,057,808...8,059,721
Ensembl chr 3:28,395,769...28,458,093

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 chr 3:8,050,088...8,052,416
Ensembl chr 3:28,448,248...28,450,981

G

suppressor APC domain containing 2

ISO

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

NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:28,585,416...28,591,389

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 chr 3:29,627,779...29,662,925
Ensembl chr 3:29,627,779...29,662,319

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 chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997

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 chr 3:29,580,157...29,598,440
Ensembl chr 3:29,580,159...29,597,610

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 chr 3:8,084,949...8,086,417
Ensembl chr 3:28,483,107...28,484,608

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 chr 3:8,028,122...8,030,546
Ensembl chr 3:28,426,292...28,428,692

G

transmembrane protein 141

ISO

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

NCBI chr 3:28,837,665...28,839,623
Ensembl chr 3:28,836,576...28,839,623

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 chr 3:28,469,062...28,469,890
Ensembl chr 3:28,465,345...28,472,140

G

transmembrane protein 210

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 chr 3:8,100,595...8,101,645
Ensembl chr 3:28,498,751...28,499,801

G

transmembrane protein 250

ISO

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

NCBI chr 3:29,360,770...29,364,756
Ensembl chr 3:29,360,770...29,364,462

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 chr 3:28,402,454...28,406,141
Ensembl chr 3:28,399,513...28,406,473

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 chr 3:28,474,322...28,481,800
Ensembl chr 3:28,473,620...28,482,117

G

Tnf receptor-associated factor 2

ISO

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

NCBI chr 3:28,740,098...28,764,752
Ensembl chr 3:28,740,098...28,764,691

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 chr 3:28,435,999...28,438,455
Ensembl chr 3:28,435,148...28,439,719

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 chr 3:28,570,854...28,579,766
Ensembl chr 3:28,573,358...28,578,630

G

UBA domain containing 1

ISO

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

NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:29,204,570...29,246,161

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 chr 3:7,758,133...7,769,722
Ensembl chr 3:28,156,314...28,167,902

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17236128 PMID:25741868 PMID:28492532

NCBI chr 7:133,053,393...133,231,430
Ensembl chr 7:133,053,401...133,228,874

G

tectonin beta-propeller repeat containing 2

ISO

ClinVar Annotator: match by term: Intellectual disability, FRA12A type

PMID:25741868 PMID:28492532

NCBI chr 6:135,720,765...135,823,187
Ensembl chr 6:135,720,656...135,823,187

Bryant-Li-Bhoj neurodevelopmental syndrome 1

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

H3.3 histone A

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 chr13:95,065,085...95,076,695
Ensembl chr13:95,065,085...95,076,695

Bryant-Li-Bhoj neurodevelopmental syndrome 2

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

H3.3 histone B

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 chr10:101,755,404...101,764,616
Ensembl chr10:101,755,404...101,757,636

cerebellar ataxia type 47

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pumilio RNA-binding family member 1

ISO

ClinVar Annotator: match by term: PUM1-associated developmental disability-ataxia-seizure syndrome | ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47

PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 More...

NCBI chr 5:148,120,712...148,238,468
Ensembl chr 5:148,121,254...148,238,466

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 chr 9:93,364,791...93,491,015
Ensembl chr 9:93,364,791...93,490,159

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
ISS

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome

CTD
ClinVar
MouseDO

PMID:22426308 PMID:25741868 PMID:28492532

NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386

G

AT-rich interaction domain 1B

ISO

DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More...

NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793

G

AT-rich interaction domain 2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome

NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187

G

double PHD fingers 2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome

NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289

G

lysine demethylase 8

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome

NCBI chr 1:189,444,527...189,459,507
Ensembl chr 1:189,444,555...189,459,491

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability

PMID:18414213 PMID:22426308 PMID:28512736

NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 More...

NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:10521299 PMID:16199547 PMID:18285426 PMID:18647326 PMID:21108436 More...

NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185

G

SRY-box transcription factor 11

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:25741868 PMID:26543203

NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691

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 chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386

G

AT-rich interaction domain 1B

ISO
ISS

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: 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
OMIM:135900
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

OMIM
ClinVar
MouseDO

PMID:1724113 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 More...

NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793

G

AT-rich interaction domain 2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187

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 chr 2:119,038,803...119,047,579
Ensembl chr 2:120,966,950...120,975,011

G

BRD4 interacting chromatin remodeling complex associated protein

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:85,790,093...85,864,306

G

double PHD fingers 2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

PMID:25741868 PMID:29429572

NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289

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 chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070

G

SWI/SNF related BAF chromatin remodeling complex subunit C2

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chr 7:1,466,223...1,494,627
Ensembl chr 7:1,466,454...1,494,626

G

SRY-box transcription factor 4

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024

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 chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024

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 chr 7:132,708,627...132,719,167
Ensembl chr 7:132,708,432...132,719,167

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 PMID:37500730

NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:85,790,093...85,864,306

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 chr 1:93,310,294...93,379,369
Ensembl chr 1:93,310,278...93,379,320

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 chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386

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 chr15:52,036,540...52,056,019
Ensembl chr15:52,036,540...52,056,015

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 chr20:12,754,490...12,768,454
Ensembl chr20:12,762,981...12,766,477

G

matrix metallopeptidase 11

ISO

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,277...12,739,290

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 chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055

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 chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070

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 chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185

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 chr 7:129,326,371...129,443,813
Ensembl chr 7:129,324,137...129,443,187

G

GRB10 interacting GYF protein 1

ISO

ClinVar Annotator: match by term: Coffin-Siris syndrome 6

PMID:25741868 PMID:35917186

NCBI chr12:24,800,996...24,819,719
Ensembl chr12:24,802,865...24,811,800

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 chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289

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 chr 7:1,466,223...1,494,627
Ensembl chr 7:1,466,454...1,494,626

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 chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691

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 chr 1:77,789,752...77,807,307
Ensembl chr 1:77,789,752...77,807,413

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 chr 2:172,447,738...172,609,591
Ensembl chr 2:172,447,738...172,609,591

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 chr 2:177,987,981...177,994,568
Ensembl chr 2:177,987,981...177,993,485

G

CREB regulated transcription coactivator 2

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chr 2:178,007,233...178,017,397
Ensembl chr 2:178,007,240...178,017,389

G

DENN domain containing 4B

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:178,018,358...178,034,054

G

GATA zinc finger domain containing 2B

ISO
ISS

ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-related condition | ClinVar Annotator: match by term: GATAD2B-related disorder
OMIM:615074

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:11756549 PMID:17576681 PMID:21681106 PMID:23033978 More...

NCBI chr 2:178,046,192...178,127,633
Ensembl chr 2:178,046,085...178,147,315

G

jumping translocation breakpoint

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:177,982,635...177,987,905

G

nucleoporin 210-like

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:177,845,633...177,962,969

G

RAB13, member RAS oncogene family

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chr 2:177,972,535...177,977,679
Ensembl chr 2:177,972,372...177,977,684

G

ribosomal protein S27

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chr 2:177,963,499...177,964,708
Ensembl chr 2:177,963,496...177,964,607
Ensembl chr12:177,963,496...177,964,607

G

solute carrier family 39 member 1

ISO

ClinVar Annotator: match by term: GAND SYNDROME

NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:178,001,119...178,006,689

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
ISS

ClinVar Annotator: match by term: ADNP-related condition | ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome
OMIM:615873

OMIM
ClinVar
MouseDO

PMID:18414213 PMID:23160955 PMID:24531329 PMID:25057125 PMID:25169753 More...

NCBI chr 3:177,310,258...177,340,379
Ensembl chr 3:177,310,258...177,336,188

Houge-Janssens Syndrome 4

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 2, regulatory subunit B', gamma

ISO

ClinVar Annotator: match by term: HOUGE-JANSSENS SYNDROME 4

PMID:25741868 PMID:39978342

NCBI chr 6:135,282,947...135,419,591
Ensembl chr 6:135,324,067...135,419,597

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 chr10:90,553,124...90,873,477
Ensembl chr10:91,053,067...91,368,570

intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box protein 11

ISO

ClinVar Annotator: match by term: FBXO11-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

PMID:9354786 PMID:9536098 PMID:10699937 PMID:11807791 PMID:12376507 More...

NCBI chr 6:12,240,348...12,316,223
Ensembl chr 6:12,239,801...12,316,221

G

mutS homolog 6

ISO

ClinVar Annotator: match by term: FBXO11-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

PMID:9354786 PMID:10699937 PMID:11807791 PMID:12376507 PMID:14520694 More...

NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844

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 chr19:23,099,398...23,119,696
Ensembl chr19:40,004,275...40,024,187

Koolen de Vries syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADP-ribosylation factor 2

ISO

ClinVar Annotator: match by term: Koolen-de Vries syndrome

NCBI chr10:88,867,836...88,889,654
Ensembl chr10:89,368,044...89,389,651

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 chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629

G

similar to human chromosome 11 open reading frame 65

ISO

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More...

NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:62,692,568...62,720,946

G

corticotropin releasing hormone receptor 1

ISO

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr10:89,540,192...89,583,466
Ensembl chr10:89,540,192...89,583,466

G

KAT8 regulatory NSL complex subunit 1

ISO
ISS

ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome
OMIM:610443
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More...

NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,737,637...89,868,620

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 chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108

G

signal peptide peptidase like 2C

ISO

ClinVar Annotator: match by term: Koolen-de Vries syndrome

PMID:18628315 PMID:21094706 PMID:28492532

NCBI chr10:89,095,279...89,097,487
Ensembl chr10:89,592,397...89,610,842

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 chr13:66,103,943...66,136,038
Ensembl chr13:66,083,653...66,133,161

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: NESCAV SYNDROME

PMID:9536098 PMID:17576681 PMID:21376300 PMID:21820098 PMID:22258533 More...

NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777

G

RNA polymerase I subunit A

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9

NCBI chr 4:105,508,305...105,572,272
Ensembl chr 4:105,508,248...105,574,036

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 chr10:36,856,534...36,878,789

neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine and arginine rich splicing factor 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

PMID:25741868 PMID:35468861 PMID:37071997

NCBI chr10:73,335,519...73,342,549
Ensembl chr10:73,336,422...73,342,548

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
ISS

ClinVar Annotator: match by term: BPTF-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
OMIM:617755

ClinVar
OMIM
MouseDO

PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More...

NCBI chr10:92,480,007...92,582,485
Ensembl chr10:92,480,007...92,582,413

G

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762

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 chr 1:172,369,062...172,378,043
Ensembl chr 1:172,369,062...172,378,041

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 chr 5:140,406,318...140,427,201
Ensembl chr 5:140,406,214...140,427,200

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 chr12:16,150,411...16,170,864
Ensembl chr12:16,128,649...16,172,109

G

SR-related CTD-associated factor 4

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chr11:42,951,254...43,007,293
Ensembl chr11:42,951,254...43,007,293

G

SET domain containing 1A, histone lysine methyltransferase

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chr 1:191,818,752...191,842,167
Ensembl chr 1:191,818,752...191,842,160

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 chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901

G

trinucleotide repeat containing adaptor 6B

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:114,132,573...114,342,973

G

zinc finger, MIZ-type containing 1

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

NCBI chr16:1,033,983...1,239,425
Ensembl chr16:1,034,020...1,239,406

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 chr15:27,341,196...27,378,314
Ensembl chr15:27,341,196...27,378,314

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: FRMD5-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia

PMID:25741868 PMID:36206744

NCBI chr 3:128,945,812...129,217,134
Ensembl chr 3:128,927,671...129,217,074

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 chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599

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 chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762

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: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE

PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 More...

NCBI chr 2:15,708,732...15,871,639
Ensembl chr 2:15,708,924...15,871,640

neurodevelopmental disorder with or without autism or seizures

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cullin 3

ISO

ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autism or seizures

PMID:16199547 PMID:22914163 PMID:25741868 PMID:27824329 PMID:28492532 More...

NCBI chr 9:89,040,987...89,118,775
Ensembl chr 9:89,040,987...89,118,427

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 chr 1:191,818,752...191,842,167
Ensembl chr 1:191,818,752...191,842,160

Pierpont syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBL1X/Y related 1

ISO
ISS

OMIM:602342
ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD

PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 More...

NCBI chr 2:106,718,811...106,857,989
Ensembl chr 2:106,730,665...106,857,989

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 chr 1:211,866,872...211,998,828
Ensembl chr 1:211,866,874...211,998,828

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 chr 1:136,597,993...136,726,874
Ensembl chr 1:136,599,900...136,710,335

G

chromodomain helicase DNA binding protein 4

ISO

ClinVar Annotator: match by term: CHD4-related disorder | ClinVar Annotator: match by term: SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome

PMID:9536098 PMID:17576681 PMID:21743468 PMID:22575888 PMID:25741868 More...

NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:159,584,654...159,617,866

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 chr 1:196,401,857...196,435,541
Ensembl chr 1:205,831,336...205,865,106

G

discs large MAGUK scaffold protein 4

ISO

ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 24

NCBI chr10:55,239,397...55,267,780
Ensembl chr10:55,236,869...55,265,839

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 chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418

G

GLI family zinc finger 3

ISO

ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198

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 chr 2:185,069,492...185,129,741
Ensembl chr 2:185,084,826...185,129,739

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
ISS

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
OMIM:615829

OMIM
ClinVar
MouseDO

PMID:4067559 PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 More...

NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:150,512,037...150,583,144

Term paths to the root

Path 1
Term	Annotations
disease	19167
Developmental Disease	14720
Neurodevelopmental Disorders	6988
intellectual disability	4415
autosomal dominant intellectual developmental disorder	477
Arboleda-Tham syndrome	1
Bryant-Li-Bhoj neurodevelopmental syndrome +	2
Clark-Baraitser syndrome	1
Coffin-Siris syndrome +	20
Coffin-Siris syndrome 9	1
GAND syndrome	9
Helsmoortel-Van Der Aa syndrome	1
Houge-Janssens Syndrome +	5
Koolen de Vries syndrome	7
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	10
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	100
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	6
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	24
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	33
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	49
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	73
autosomal dominant intellectual developmental disorder type FRA12A	2
cerebellar ataxia type 47	1
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 dysmorphic facies and behavioral abnormalities	2
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	1
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	1
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 or without autism or seizures	1
neurodevelopmental disorder with speech impairment and dysmorphic facies	1
Path 2
Term	Annotations
disease	19167
disease of anatomical entity	18473
nervous system disease	14369
central nervous system disease	12646
brain disease	11866
disease of mental health	8496
developmental disorder of mental health	5679
specific developmental disorder	4650
intellectual disability	4415
autosomal dominant intellectual developmental disorder	477
Arboleda-Tham syndrome	1
Bryant-Li-Bhoj neurodevelopmental syndrome +	2
Clark-Baraitser syndrome	1
Coffin-Siris syndrome +	20
Coffin-Siris syndrome 9	1
GAND syndrome	9
Helsmoortel-Van Der Aa syndrome	1
Houge-Janssens Syndrome +	5
Koolen de Vries syndrome	7
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	10
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	100
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	6
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	24
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	33
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	49
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	73
autosomal dominant intellectual developmental disorder type FRA12A	2
cerebellar ataxia type 47	1
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 dysmorphic facies and behavioral abnormalities	2
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	1
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	1
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 or without autism or seizures	1
neurodevelopmental disorder with speech impairment and dysmorphic facies	1

paths to the root