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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal dominant intellectual developmental disorder
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Accession:DOID:0060307 term browser 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;   OMIM:PS156200;   ORDO:178469


show annotations for term's descendants           Sort by:
autosomal dominant intellectual developmental disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 activator of transcription and developmental regulator AUTS2 ISS MouseDO NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar PMID:25741868 NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737 		JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar PMID:25741868 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar PMID:25741868 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar PMID:25741868 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar PMID:25741868 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar PMID:25741868 NCBI chr17:19,777,487...19,957,696
Ensembl chr17:19,777,266...19,955,690 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISS MouseDO NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156 		JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32439617 More... NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISS MouseDO NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
autosomal dominant intellectual developmental disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2a activin A receptor type 2A ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 ClinVar PMID:25741868 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 ClinVar PMID:25741868 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Epc2 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 ClinVar PMID:19904302 PMID:21981781 PMID:23632792 NCBI chr 3:33,867,219...33,967,908
Ensembl chr 3:33,867,219...33,967,150 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Kif5c 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 ClinVar PMID:19904302 PMID:21981781 PMID:23632792 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: 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... RGD:11554204 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156 		JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:19809484 PMID:19904302 PMID:21981781 PMID:23422940 PMID:23587880 More... NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 ClinVar PMID:25741868 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
autosomal dominant intellectual developmental disorder 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 10		 OMIM
CTD
ClinVar		 PMID:21376300 PMID:25741868 NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227 		JBrowse link
autosomal dominant intellectual developmental disorder 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41l1 erythrocyte membrane protein band 4.1-like 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11050113 PMID:19503082 PMID:21376300 PMID:25326635 PMID:25741868 NCBI chr 3:144,929,195...145,052,723
Ensembl chr 3:144,984,640...145,052,721 		JBrowse link
autosomal dominant intellectual developmental disorder 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 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
CTD Direct Evidence: marker/mechanism
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		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10862709 PMID:17576681 PMID:18414213 PMID:21076407 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 ClinVar PMID:25741868 NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993 		JBrowse link
autosomal dominant intellectual developmental disorder 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2614104 PMID:10966653 PMID:18414213 PMID:23033978 PMID:24033266 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
autosomal dominant intellectual developmental disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 2 ClinVar PMID:28492532 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
autosomal dominant intellectual developmental disorder 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: CTCF-Related Disorder | ClinVar Annotator: match by term: CTCF-related condition | ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23746550 PMID:25533962 PMID:25741868 PMID:28135719 PMID:28191890 More... NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome ClinVar PMID:25741868 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome ClinVar PMID:25741868 NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
autosomal dominant intellectual developmental disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder | ClinVar Annotator: match by term: ZBTB18-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More... NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
autosomal dominant intellectual developmental disorder 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 | ClinVar Annotator: match by term: SETD5-Related Disorder | ClinVar Annotator: match by term: SETD5-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:23020937 PMID:24680889 PMID:25138099 PMID:25741868 More... NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
autosomal dominant intellectual developmental disorder 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:21680558 PMID:21681106 PMID:22872102 More... NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency ClinVar PMID:25741868 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency ClinVar PMID:25741868 PMID:36200388 NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26 ClinVar PMID:1354642 PMID:6917943 PMID:9334205 PMID:9873004 PMID:11575529 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
autosomal dominant intellectual developmental disorder 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 | ClinVar Annotator: match by term: SETBP1-Related Disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:18414213 PMID:20436468 PMID:21037274 PMID:23222956 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
autosomal dominant intellectual developmental disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh15 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 chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
autosomal dominant intellectual developmental disorder 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 ClinVar PMID:25741868 NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295 		JBrowse link
G Zmynd11 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25217958 PMID:25281490 PMID:25741868 PMID:25741899 PMID:27334371 More... NCBI chr17:60,542,669...60,631,913
Ensembl chr17:60,543,077...60,631,902 		JBrowse link
autosomal dominant intellectual developmental disorder 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankhd1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,161,882...28,260,917
Ensembl chr18:28,162,311...28,268,024 		JBrowse link
G Apbb3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,273,168...28,280,347
Ensembl chr18:28,270,545...28,280,094 		JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,204,892...26,229,999
Ensembl chr18:26,181,732...26,229,884 		JBrowse link
G Cd14 CD14 molecule ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cdc23 cell division cycle 23 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,236,891...26,260,611
Ensembl chr18:26,236,890...26,291,163 		JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185 		JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
G Cxxc5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,427,591...27,458,579
Ensembl chr18:27,427,230...27,458,673 		JBrowse link
G Cystm1 cysteine-rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,945,862...28,013,509
Ensembl chr18:27,951,653...28,013,510 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,269,350...27,303,453
Ensembl chr18:27,269,355...27,298,344 		JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316 		JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,309,711...27,319,106
Ensembl chr18:27,309,718...27,319,032 		JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,263,089...28,268,033
Ensembl chr18:28,162,311...28,268,024 		JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,502,413...26,530,753
Ensembl chr18:26,504,080...26,530,810 		JBrowse link
G Fam13b family with sequence similarity 13, member B ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,040,285...26,107,112
Ensembl chr18:26,040,285...26,106,587 		JBrowse link
G Fam53c family with sequence similarity 53, member C ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,364,050...26,378,173
Ensembl chr18:26,364,039...26,376,775 		JBrowse link
G Gfra3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,297,828...26,326,105
Ensembl chr18:26,297,829...26,326,105 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441 		JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr17:6,507,728...6,510,385
Ensembl chr17:6,507,275...6,509,375 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
G Igip IgA-inducing protein ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,904,018...27,905,509 JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,358,004...28,372,809
Ensembl chr18:28,357,977...28,378,832 		JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628 		JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,230,294...26,238,780
Ensembl chr18:26,230,230...26,238,780 		JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,817,816...26,822,864
Ensembl chr18:26,817,816...26,822,864 		JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166 		JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
G Mzb1 marginal zone B and B1 cell-specific protein ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,238,999...27,241,060
Ensembl chr18:27,239,001...27,241,094 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076 		JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794 		JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,616,542...27,798,505
Ensembl chr18:27,619,661...27,798,505 		JBrowse link
G Paip2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,199,762...27,218,359
Ensembl chr18:27,199,796...27,214,863 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,740,353...28,750,216
Ensembl chr18:28,581,225...28,846,211 		JBrowse link
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,581,225...28,846,211 JBrowse link
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,913,835...28,916,746
Ensembl chr18:28,913,989...28,916,445 		JBrowse link
G Pcdhb15 protocadherin beta 15 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,178,869...29,183,847
Ensembl chr18:29,181,052...29,183,804 		JBrowse link
G Pcdhb16 protocadherin beta 16 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,192,260...29,195,669
Ensembl chr18:29,192,124...29,200,539 		JBrowse link
G Pcdhb19 protocadherin beta 19 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,204,838...29,207,646 JBrowse link
G Pcdhb2 protocadherin beta 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,005,996...29,008,782
Ensembl chr18:29,005,996...29,008,782 		JBrowse link
G Pcdhb20 protocadherin beta 20 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,211,878...29,215,272
Ensembl chr18:29,211,883...29,215,258 		JBrowse link
G Pcdhb21 protocadherin beta 21 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,218,209...29,221,142
Ensembl chr18:29,218,225...29,221,142 		JBrowse link
G Pcdhb22 protocadherin beta 22 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,223,028...29,229,132
Ensembl chr18:29,223,149...29,225,536 		JBrowse link
G Pcdhb3 protocadherin beta 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,011,667...29,014,221
Ensembl chr18:29,011,816...29,015,188 		JBrowse link
G Pcdhb5 protocadherin beta 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,024,315...29,032,183
Ensembl chr18:29,028,382...29,053,259 		JBrowse link
G Pcdhb6l protocadherin beta-6-like ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,146,017...29,149,871
Ensembl chr18:29,146,313...29,148,703 		JBrowse link
G Pcdhb8 protocadherin beta 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,065,466...29,067,805
Ensembl chr18:29,065,466...29,067,805 		JBrowse link
G Pcdhga1 protocadherin gamma subfamily A, 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,487,404...29,667,865
Ensembl chr18:29,487,482...29,492,857
Ensembl chr18:29,487,482...29,492,857 		JBrowse link
G Pcdhga10 protocadherin gamma subfamily A, 10 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,574,693...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga11 protocadherin gamma subfamily A, 11 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,583,373...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga12 protocadherin gamma subfamily A, 12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,592,664...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga2 protocadherin gamma subfamily A, 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,493,954...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga3 protocadherin gamma subfamily A, 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,499,148...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga4 protocadherin gamma subfamily A, 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,508,152...29,543,103 JBrowse link
G Pcdhga5 protocadherin gamma subfamily A, 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,519,705...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga7 protocadherin gamma subfamily A, 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,543,018...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga8 protocadherin gamma subfamily A, 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,553,882...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhga9 protocadherin gamma subfamily A, 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,564,614...29,667,865 JBrowse link
G Pcdhgb1 protocadherin gamma subfamily B, 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,501,739...29,508,024 JBrowse link
G Pcdhgb7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,579,129...29,667,868
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhgb8 protocadherin gamma subfamily B, 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,588,327...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhgc3 protocadherin gamma subfamily C, 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,633,016...29,667,865
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pcdhgc5 protocadherin gamma subfamily C, 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,647,201...29,666,336
Ensembl chr18:29,493,954...29,667,868 		JBrowse link
G Pfdn1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,014,145...28,067,148
Ensembl chr18:28,014,145...28,067,064 		JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,007,789...26,042,428
Ensembl chr18:26,007,797...26,042,428 		JBrowse link
G Prob1 proline-rich basic protein 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,242,511...27,247,355
Ensembl chr18:27,244,280...27,247,333 		JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,564,912...27,616,674
Ensembl chr18:27,565,587...27,616,672 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9461080 PMID:12818205 PMID:19846792 PMID:23950017 PMID:24033266 More... NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697 		JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,452,943...29,456,324
Ensembl chr18:29,453,582...29,460,383 		JBrowse link
G Slc35a4 solute carrier family 35, member A4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,280,483...28,284,610
Ensembl chr18:28,279,750...28,284,725 		JBrowse link
G Slc4a9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,128,740...28,144,554
Ensembl chr18:28,128,740...28,141,543 		JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,249,047...27,257,129
Ensembl chr18:27,248,609...27,257,124 		JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr17:6,741,504...7,221,685
Ensembl chr17:6,742,273...7,224,935 		JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335 		JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,459,937...29,462,086
Ensembl chr18:29,452,943...29,462,134 		JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843 		JBrowse link
G Ube2d2 ubiquitin-conjugating enzyme E2D 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,364,325...27,406,322
Ensembl chr18:27,364,303...27,406,181 		JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283 		JBrowse link
G Zmat2 zinc finger, matrin type 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,409,606...28,414,241
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
autosomal dominant intellectual developmental disorder 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp6 dipeptidyl peptidase like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 33		 OMIM
CTD
ClinVar		 PMID:23832105 PMID:25741868 PMID:34008892 NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
autosomal dominant intellectual developmental disorder 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cert1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25533962 PMID:25741868 NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074 		JBrowse link
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34 ClinVar PMID:25741868 NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313 		JBrowse link
autosomal dominant intellectual developmental disorder 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mea1 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 PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 More... NCBI chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060 		JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Hogue-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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:19344873 PMID:24896178 PMID:25533962 PMID:25741868 More... NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400 		JBrowse link
autosomal dominant intellectual developmental disorder 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | ClinVar Annotator: match by term: PPP2R1A-related condition | ClinVar Annotator: match by term: PPP2R1A-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24728327 PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 More... NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129 		JBrowse link
autosomal dominant intellectual developmental disorder 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO
ISS		 OMIM:616393
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38		 OMIM
MouseDO
CTD
ClinVar		 PMID:3066688 PMID:18414213 PMID:23033978 PMID:23647072 PMID:24697219 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
autosomal dominant intellectual developmental disorder 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myt1l myelin transcription factor 1-like ISO
ISS		 OMIM:616521
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39		 OMIM
MouseDO
CTD
ClinVar		 PMID:23033978 PMID:25232846 PMID:25741868 PMID:28492532 PMID:28859103 More... NCBI chr 6:46,164,742...46,564,234
Ensembl chr 6:46,428,150...46,561,671 		JBrowse link
autosomal dominant intellectual developmental disorder 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 4 ClinVar PMID:19012874 PMID:25741868 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676 		JBrowse link
autosomal dominant intellectual developmental disorder 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21063390 PMID:23020937 PMID:24781758 PMID:25533962 PMID:25741868 More... NCBI chr16:75,733,958...75,744,931
Ensembl chr16:75,733,805...75,744,984 		JBrowse link
G Kmt2e lysine methyltransferase 2E ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373 		JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 ClinVar PMID:25741868 NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135 		JBrowse link
autosomal dominant intellectual developmental disorder 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 | ClinVar Annotator: match by term: TBL1XR1-Related Disorder | ClinVar Annotator: match by term: TBL1XR1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:19760657 PMID:22495309 PMID:23160955 PMID:25102098 More... NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055 		JBrowse link
autosomal dominant intellectual developmental disorder 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb1 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9596582 PMID:19344873 PMID:24033266 PMID:25485910 PMID:25741868 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
autosomal dominant intellectual developmental disorder 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: HIVEP2-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23020937 PMID:24033266 PMID:25741868 PMID:26153216 PMID:27003583 More... NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993 		JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43 ClinVar PMID:25741868 PMID:30244176 PMID:34008892 NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
autosomal dominant intellectual developmental disorder 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12551902 PMID:18388777 PMID:23033978 PMID:23934111 PMID:24038936 More... NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135 		JBrowse link
autosomal dominant intellectual developmental disorder 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 ClinVar PMID:25741868 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Cic 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 OMIM
ClinVar		 PMID:21076407 PMID:24307393 PMID:24728327 PMID:25741868 PMID:28288114 More... NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 ClinVar PMID:25741868 NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893 		JBrowse link
autosomal dominant intellectual developmental disorder 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: KCNQ5-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28669405 NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704 		JBrowse link
autosomal dominant intellectual developmental disorder 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: STAG1-Related Disorders | ClinVar Annotator: match by term: STAG1-related disorder OMIM
ClinVar		 PMID:25741868 PMID:25748820 PMID:28119487 PMID:28492532 PMID:30158690 More... NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677 		JBrowse link
autosomal dominant intellectual developmental disorder 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rac1 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 OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288 		JBrowse link
autosomal dominant intellectual developmental disorder 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt4 Beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,936,089...4,937,664
Ensembl chr20:4,931,768...4,938,315 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Cuta cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,022,956...5,024,580
Ensembl chr20:5,022,956...5,024,552 		JBrowse link
G Daxx death-domain associated protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843 		JBrowse link
G Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,826,725...4,828,742
Ensembl chr20:4,822,026...4,828,742 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337 		JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,998,832...5,017,107
Ensembl chr20:4,999,047...5,017,105 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796 		JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,945,959...4,947,433
Ensembl chr20:4,945,959...4,947,433 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,017,765...5,022,872
Ensembl chr20:5,017,893...5,022,871 		JBrowse link
G Ralgdsl2 ral guanine nucleotide dissociation stimulator like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,948,495...4,956,774
Ensembl chr20:4,948,497...4,969,911 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,830,120...4,833,623
Ensembl chr20:4,830,053...4,833,620 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,931,427...4,935,538
Ensembl chr10:101,204,500...101,205,146
Ensembl chr20:101,204,500...101,205,146 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,816,813...4,823,267
Ensembl chr20:4,816,815...4,828,773 		JBrowse link
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537 		JBrowse link
G Smim40 small integral membrane protein 40 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,978,658...4,989,050 JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related condition | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy | 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 chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181 		JBrowse link
G Vps52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,920,715...4,931,685
Ensembl chr20:4,860,843...4,931,665 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,937,845...4,945,796
Ensembl chr20:4,937,847...4,946,535 		JBrowse link
G Zbtb22 zinc finger and BTB domain containing 22 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,966,331...4,969,853
Ensembl chr20:4,966,271...4,969,498 		JBrowse link
G Zbtb9 zinc finger and BTB domain containing 9 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,057,433...5,060,459
Ensembl chr20:5,057,434...5,062,819 		JBrowse link
autosomal dominant intellectual developmental disorder 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: 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 OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:26785492 PMID:27824329 More... NCBI chr 2:135,458,018...135,520,756
Ensembl chr 2:135,457,948...135,520,756 		JBrowse link
autosomal dominant intellectual developmental disorder 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 OMIM
ClinVar		 PMID:25363768 PMID:25741868 PMID:28191889 PMID:29276005 PMID:30504930 NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819 		JBrowse link
autosomal dominant intellectual developmental disorder 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: ASH1L-Related Disorder | ClinVar Annotator: match by term: ASH1L-related condition | 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 OMIM
ClinVar		 PMID:23033978 PMID:25363760 PMID:25741868 PMID:25961944 PMID:27824329 More... NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055 		JBrowse link
autosomal dominant intellectual developmental disorder 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 OMIM
ClinVar		 PMID:25363768 PMID:25741868 PMID:25741872 PMID:28130356 PMID:29100089 More... NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
autosomal dominant intellectual developmental disorder 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: CAMK2B-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29100089 PMID:29560374 PMID:30842224 More... NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
autosomal dominant intellectual developmental disorder 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nus1 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 OMIM
ClinVar		 PMID:16199547 PMID:25066056 PMID:25741868 PMID:28492532 PMID:29100083 More... NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		JBrowse link
autosomal dominant intellectual developmental disorder 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cltc 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22831640 PMID:25741868 PMID:26822784 More... NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737 		JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 ClinVar PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:22243262 More... NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 ClinVar PMID:25741868 NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 ClinVar PMID:25205402 PMID:25741868 PMID:27075013 PMID:28492532 PMID:31785789 NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
G Mrc2 mannose receptor, C type 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 ClinVar PMID:25741868 NCBI chr10:90,261,986...90,323,187
Ensembl chr10:90,261,394...90,322,856 		JBrowse link
G Tlk2 tousled-like kinase 2 ISO ClinVar Annotator: match by term: 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 OMIM
ClinVar		 PMID:25741868 PMID:25741869 PMID:27479843 PMID:28492532 PMID:29861108 More... NCBI chr10:90,154,449...90,248,562
Ensembl chr10:90,156,813...90,248,561 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Set 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
OMIM		 PMID:9536098 PMID:11231286 PMID:17576681 PMID:25356899 PMID:25741868 More... NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567 		JBrowse link
G Setsip SET like protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 ClinVar PMID:25741868 NCBI chr19:53,561,262...53,562,780
Ensembl chr19:53,561,190...53,563,819 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2g calcium/calmodulin-dependent protein kinase II gamma ISO ClinVar Annotator: match by term: Intellectual developmental disorder 59 OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:30184290 NCBI chr15:3,504,017...3,563,050
Ensembl chr15:3,504,085...3,563,050 		JBrowse link
autosomal dominant intellectual developmental disorder 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,768,437...167,825,706
Ensembl chr 4:167,818,271...167,825,706 		JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,822,951...169,841,884
Ensembl chr 4:169,822,952...169,841,658 		JBrowse link
G Art4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,740,331...169,751,571
Ensembl chr 4:169,740,331...169,750,665 		JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650 		JBrowse link
G Bcl2l14 Bcl2-like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,217,561...167,258,723
Ensembl chr 4:167,219,871...167,258,086 		JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,458,640...167,543,556
Ensembl chr 4:167,473,177...167,540,993 		JBrowse link
G C4h12orf60 similar to human chromosome 12 open reading frame 60 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Crebl2 cAMP responsive element binding protein-like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,673,359...167,699,299
Ensembl chr 4:167,673,315...167,699,292 		JBrowse link
G Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,845,652...167,858,115
Ensembl chr 4:167,845,640...167,859,115 		JBrowse link
G Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,546,780...167,630,173
Ensembl chr 4:167,548,155...167,629,980 		JBrowse link
G Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:168,212,901...168,233,039
Ensembl chr 4:168,212,861...168,232,904 		JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873 		JBrowse link
G Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,804,656...169,821,660
Ensembl chr 4:169,804,658...169,821,660 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:168,048,313...168,124,017
Ensembl chr 4:168,048,396...168,097,338 		JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:167,710,666...167,741,036 		JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,903,542...167,922,276
Ensembl chr 4:167,903,542...167,922,260 		JBrowse link
G Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,943,523...167,955,616
Ensembl chr 4:167,943,523...167,955,616 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:168,090,773...168,107,039
Ensembl chr 4:168,090,776...168,107,039 		JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092 		JBrowse link
G H2aj H2A.J histone ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,675,718...169,676,202
Ensembl chr 4:169,675,752...169,677,006 		JBrowse link
G Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,974,316...168,003,854
Ensembl chr 4:167,974,319...168,003,854 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,438,817...167,459,047
Ensembl chr 4:167,439,071...167,479,606 		JBrowse link
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667 		JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969 		JBrowse link
G Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,472,983...169,529,277
Ensembl chr 4:169,472,983...169,529,277 		JBrowse link
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771 		JBrowse link
G Rerg RAS-like, estrogen-regulated, growth-inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,981,634...170,089,777
Ensembl chr 4:169,982,279...170,089,715 		JBrowse link
G Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,719,962...169,728,849
Ensembl chr 4:169,719,949...169,728,133 		JBrowse link
G Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,680,984...169,694,431
Ensembl chr 4:169,680,983...169,694,443 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2m1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31104773 NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures ClinVar PMID:25741868 NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 | ClinVar Annotator: match by term: Intellectual developmental disorder 61 OMIM
ClinVar		 PMID:25741868 PMID:29740699 NCBI chr10:71,086,978...71,176,535
Ensembl chr10:71,090,516...71,177,242 		JBrowse link
G Wdr1 WD repeat domain 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder 61 ClinVar PMID:29740699 NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Intellectual developmental disorder 62 ClinVar PMID:25741868 PMID:27618451 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 | ClinVar Annotator: match by term: Intellectual developmental disorder 62 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26350515 PMID:27479843 PMID:27618451 More... NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition OMIM
ClinVar		 PMID:22495306 PMID:25363768 PMID:25741868 PMID:26721934 PMID:27418539 More... NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Zfp292 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 OMIM
ClinVar		 PMID:25363760 PMID:25741868 PMID:27824329 PMID:28492532 PMID:28808027 More... NCBI chr 5:49,384,177...49,468,177
Ensembl chr 5:49,387,893...49,468,265 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm4b lysine demethylase 4B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 65 OMIM
ClinVar		 PMID:25741868 PMID:29758562 PMID:33232677 NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65 ClinVar PMID:29758562 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 66 OMIM
ClinVar		 PMID:25741868 PMID:35358416 NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 67 OMIM
ClinVar		 PMID:23033978 PMID:25363760 PMID:25741868 PMID:28628100 PMID:30504930 More... NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 | ClinVar Annotator: match by term: KMT2B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman2l lectin, mannose-binding 2-like ISO OMIM NCBI chr 9:38,661,709...38,685,244
Ensembl chr 9:38,661,712...38,685,337 		JBrowse link
autosomal dominant intellectual developmental disorder 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592 		JBrowse link
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393 		JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061 		JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867 		JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO
ISS		 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17237124 PMID:17576681 PMID:18414213 More... NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439 		JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Hunk hormonally upregulated Neu-associated kinase ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,641,122...29,758,392
Ensembl chr11:29,640,775...29,757,526 		JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979 		JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062 		JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484 		JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648 		JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Ripply3 ripply transcriptional repressor 3 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002 		JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363 		JBrowse link
G Vps26c VPS26 endosomal protein sorting factor C ISO ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome ClinVar PMID:17237124 PMID:23512985 PMID:28492532 NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ado 2-aminoethanethiol dioxygenase ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:21,044,815...21,045,983
Ensembl chr20:21,044,555...21,049,235 		JBrowse link
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433 		JBrowse link
G Atoh7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275 		JBrowse link
G Cabcoco1 ciliary associated calcium binding coiled-coil 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:20,058,492...20,167,973
Ensembl chr20:20,058,454...20,167,725 		JBrowse link
G Ccdc6 coiled-coil domain containing 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:18,432,177...18,528,186
Ensembl chr20:18,433,695...18,528,658 		JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408 		JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978 		JBrowse link
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,223,144...25,267,521 		JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562 		JBrowse link
G Herc4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:25,329,972...25,404,657
Ensembl chr20:25,330,280...25,404,657 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122 		JBrowse link
G Lrrtm3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:24,515,627...24,689,669
Ensembl chr20:24,515,627...24,689,669 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Nrbf2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:21,308,555...21,326,881
Ensembl chr20:21,308,576...21,326,818 		JBrowse link
G Reep3 receptor accessory protein 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:21,493,868...21,578,698
Ensembl chr20:21,493,954...21,578,697 		JBrowse link
G Rhobtb1 Rho-related BTB domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:19,327,142...19,456,121
Ensembl chr20:19,327,155...19,403,012 		JBrowse link
G Rtkn2 rhotekin 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:20,536,628...20,609,951
Ensembl chr20:20,525,256...20,609,951 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32710489 NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
G Sirt1 sirtuin 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Tmem26 transmembrane protein 26 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 ClinVar PMID:25741868 NCBI chr20:19,820,768...19,872,561
Ensembl chr20:19,822,975...19,872,023 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:33584783 PMID:33658631 PMID:36334883 NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 72 OMIM
ClinVar		 PMID:25741868 PMID:35567594 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf4 TATA-box binding protein associated factor 4 ISO OMIM NCBI chr 3:167,017,992...167,083,413
Ensembl chr 3:167,017,993...167,083,356 		JBrowse link
Autosomal Dominant Intellectual Developmental Disorder 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 74 OMIM
ClinVar		 PMID:37541189 NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183 		JBrowse link
autosomal dominant intellectual developmental disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: GRIN1-Related Disorder | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10197535 PMID:10201407 PMID:12451122 PMID:16199547 More... NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180 		JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356 		JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ClinVar PMID:16826528 PMID:19264732 PMID:26833960 PMID:28492532 NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514 		JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition OMIM
ClinVar		 PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 9:85,916,691...86,043,312
Ensembl chr 9:85,916,691...86,051,403 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO
ISS		 ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:22426308 PMID:25741868 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar
RGD		 PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More... RGD:11526783 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability		 CTD
ClinVar		 PMID:18414213 PMID:22426308 PMID:28512736 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26543203 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO
ISS		 ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | 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:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 More... NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323 		JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 susceptibility ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar
OMIM		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More... NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
developmental delay, dysmorphic facies, and brain anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G U2af2 U2 small nuclear RNA auxiliary factor 2 ISO ClinVar Annotator: match by term: Developmental delay, dysmorphic facies, and brain anomalies ClinVar
OMIM		 PMID:28492532 PMID:34112922 PMID:36747105 PMID:37092751 NCBI chr 1:68,760,911...68,779,730
Ensembl chr 1:68,760,924...68,778,492 		JBrowse link
developmental delay, hypotonia, and impaired language term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw7 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 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:35395208 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
GAND syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO
ISS		 OMIM:615074
ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-Related Disorder
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:9536098 PMID:11756549 PMID:17576681 PMID:21681106 PMID:23033978 More... NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058 		JBrowse link
Helsmoortel-Van Der Aa syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: ADNP-related condition | ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:23160955 PMID:24531329 PMID:25057125 PMID:25169753 More... NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
intellectual developmental disorder with autistic features and language delay, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tanc2 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 OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:28492532 PMID:28754924 PMID:30021165 More... NCBI chr10:90,553,124...90,873,477
Ensembl chr10:90,553,002...90,868,756 		JBrowse link
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo2 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 OMIM
ClinVar		 PMID:25741868 PMID:34314705 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596 		JBrowse link
Koolen de Vries syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf2 ADP-ribosylation factor 2 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:25741868 NCBI chr10:88,867,836...88,889,654
Ensembl chr10:88,867,836...88,889,659 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: Koolen-de Vries syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More... NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Sppl2c signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,095,279...89,097,487
Ensembl chr10:89,095,261...89,098,580 		JBrowse link
Luo-Schoch-Yamamoto syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf2 ring finger protein 2 ISO ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome | ClinVar Annotator: match by term: RNF2-associated neurodevelopmental condition ClinVar
OMIM		 PMID:25741868 PMID:33864376 NCBI chr13:63,553,964...63,584,047
Ensembl chr13:63,554,862...63,583,099 		JBrowse link
NESCAV syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar Annotator: match by term: NESCAV SYNDROME
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:21376300 PMID:21820098 PMID:22258533 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srsf1 serine and arginine rich splicing factor 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:37071997 NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336 		JBrowse link
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bptf bromodomain PHD finger transcription factor ISO
ISS		 OMIM:617755
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		 OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More... NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ClinVar PMID:25741868 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Eif3f eukaryotic translation initiation factor 3, subunit F ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ClinVar PMID:25741868 PMID:30409806 PMID:33736665 NCBI chr 1:162,934,220...162,943,204
Ensembl chr 1:162,934,212...162,943,204 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ClinVar PMID:25741868 PMID:28886345 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ClinVar PMID:25741868 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153 		JBrowse link
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ClinVar PMID:25741868 NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ClinVar PMID:9302262 PMID:15292211 PMID:22897141 PMID:25741868 PMID:28492532 More... NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ClinVar PMID:25741868 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790 		JBrowse link
G Zmiz1 zinc finger, MIZ-type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ClinVar PMID:25741868 NCBI chr16:1,027,083...1,232,616
Ensembl chr16:1,027,325...1,232,597 		JBrowse link
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:31924697 NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846 		JBrowse link
neurodevelopmental disorder with eye movement abnormalities and ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia OMIM
ClinVar		 PMID:25741868 PMID:36206744 NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498 		JBrowse link
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a 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 ClinVar NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1c 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 OMIM
ClinVar		 PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 More... NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
neurodevelopmental disorder with speech impairment and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1a 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 OMIM
ClinVar		 PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:28492532 More... NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090 		JBrowse link
Pierpont syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 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 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055 		JBrowse link
Schuurs-Hoeijmakers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Schuurs-Hoeijmakers syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23159249 PMID:25326635 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
Sifrim-Hitz-Weiss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome ClinVar NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome OMIM
ClinVar		 PMID:25741868 PMID:27616479 PMID:28492532 PMID:31388190 PMID:32543371 More... NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
Vulto-van Silfout-de Vries syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 24
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11690625 PMID:21076407 PMID:23020937 PMID:24726472 PMID:25326635 More... NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
White-Sutton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707 		JBrowse link
Xia-Gibbs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:4067559 PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 More... NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        intellectual disability 4299
          autosomal dominant intellectual developmental disorder 447
            Arboleda-Tham syndrome 1
            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 60 2
            Autosomal Dominant Intellectual Developmental Disorder 61 2
            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 70 21
            Autosomal Dominant Intellectual Developmental Disorder 71 1
            Autosomal Dominant Intellectual Developmental Disorder 72 1
            Autosomal Dominant Intellectual Developmental Disorder 73 1
            Autosomal Dominant Intellectual Developmental Disorder 74 1
            Clark-Baraitser syndrome 1
            Coffin-Siris syndrome + 18
            Coffin-Siris syndrome 9 1
            GAND syndrome 9
            Helsmoortel-Van Der Aa syndrome 1
            Koolen de Vries syndrome 5
            Luo-Schoch-Yamamoto syndrome 1
            NESCAV syndrome 1
            Pierpont syndrome 1
            Schuurs-Hoeijmakers syndrome 1
            Sifrim-Hitz-Weiss syndrome 2
            Vulto-van Silfout-de Vries syndrome 1
            White-Sutton syndrome 3
            Xia-Gibbs syndrome 1
            autosomal dominant intellectual developmental disorder 1 13
            autosomal dominant intellectual developmental disorder 10 1
            autosomal dominant intellectual developmental disorder 11 1
            autosomal dominant intellectual developmental disorder 13 2
            autosomal dominant intellectual developmental disorder 19 1
            autosomal dominant intellectual developmental disorder 2 1
            autosomal dominant intellectual developmental disorder 21 3
            autosomal dominant intellectual developmental disorder 22 1
            autosomal dominant intellectual developmental disorder 23 1
            autosomal dominant intellectual developmental disorder 26 4
            autosomal dominant intellectual developmental disorder 29 1
            autosomal dominant intellectual developmental disorder 3 1
            autosomal dominant intellectual developmental disorder 30 2
            autosomal dominant intellectual developmental disorder 31 100
            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 3
            autosomal dominant intellectual developmental disorder 41 1
            autosomal dominant intellectual developmental disorder 42 1
            autosomal dominant intellectual developmental disorder 43 2
            autosomal dominant intellectual developmental disorder 44 1
            autosomal dominant intellectual developmental disorder 45 3
            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 23
            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 6 33
            autosomal dominant intellectual developmental disorder 7 49
            autosomal dominant intellectual developmental disorder 8 73
            developmental delay, dysmorphic facies, and brain anomalies 1
            developmental delay, hypotonia, and impaired language 1
            intellectual developmental disorder with autistic features and language delay, with or without seizures 1
            intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 1
            neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 1
            neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 9
            neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
            neurodevelopmental disorder with eye movement abnormalities and ataxia 1
            neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2
            neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
            neurodevelopmental disorder with speech impairment and dysmorphic facies 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    autosomal dominant intellectual developmental disorder 447
                      Arboleda-Tham syndrome 1
                      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 60 2
                      Autosomal Dominant Intellectual Developmental Disorder 61 2
                      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 70 21
                      Autosomal Dominant Intellectual Developmental Disorder 71 1
                      Autosomal Dominant Intellectual Developmental Disorder 72 1
                      Autosomal Dominant Intellectual Developmental Disorder 73 1
                      Autosomal Dominant Intellectual Developmental Disorder 74 1
                      Clark-Baraitser syndrome 1
                      Coffin-Siris syndrome + 18
                      Coffin-Siris syndrome 9 1
                      GAND syndrome 9
                      Helsmoortel-Van Der Aa syndrome 1
                      Koolen de Vries syndrome 5
                      Luo-Schoch-Yamamoto syndrome 1
                      NESCAV syndrome 1
                      Pierpont syndrome 1
                      Schuurs-Hoeijmakers syndrome 1
                      Sifrim-Hitz-Weiss syndrome 2
                      Vulto-van Silfout-de Vries syndrome 1
                      White-Sutton syndrome 3
                      Xia-Gibbs syndrome 1
                      autosomal dominant intellectual developmental disorder 1 13
                      autosomal dominant intellectual developmental disorder 10 1
                      autosomal dominant intellectual developmental disorder 11 1
                      autosomal dominant intellectual developmental disorder 13 2
                      autosomal dominant intellectual developmental disorder 19 1
                      autosomal dominant intellectual developmental disorder 2 1
                      autosomal dominant intellectual developmental disorder 21 3
                      autosomal dominant intellectual developmental disorder 22 1
                      autosomal dominant intellectual developmental disorder 23 1
                      autosomal dominant intellectual developmental disorder 26 4
                      autosomal dominant intellectual developmental disorder 29 1
                      autosomal dominant intellectual developmental disorder 3 1
                      autosomal dominant intellectual developmental disorder 30 2
                      autosomal dominant intellectual developmental disorder 31 100
                      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 3
                      autosomal dominant intellectual developmental disorder 41 1
                      autosomal dominant intellectual developmental disorder 42 1
                      autosomal dominant intellectual developmental disorder 43 2
                      autosomal dominant intellectual developmental disorder 44 1
                      autosomal dominant intellectual developmental disorder 45 3
                      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 23
                      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 6 33
                      autosomal dominant intellectual developmental disorder 7 49
                      autosomal dominant intellectual developmental disorder 8 73
                      developmental delay, dysmorphic facies, and brain anomalies 1
                      developmental delay, hypotonia, and impaired language 1
                      intellectual developmental disorder with autistic features and language delay, with or without seizures 1
                      intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 1
                      neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 1
                      neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 9
                      neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
                      neurodevelopmental disorder with eye movement abnormalities and ataxia 1
                      neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2
                      neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
                      neurodevelopmental disorder with speech impairment and dysmorphic facies 1
paths to the root