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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:Developmental Disabilities
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Accession:DOID:9008086 term browser browse the term
Definition:Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
Synonyms:exact_synonym: Child Development Deviation;   Child Development Deviations;   Child Development Disorder;   Child Development Disorders;   Child Development Disorders, Specific;   DEVELOPMENTAL DELAY;   Developmental Delay Disorder;   Developmental Delay Disorders;   Developmental Disability;   Global developmental delay
 primary_id: MESH:D002658;   RDO:0000673
 xref: NCI:C116942
For additional species annotation, visit the Alliance of Genome Resources.



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Developmental Disabilities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aar2 AAR2 splicing factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:145,057,368...145,079,838
Ensembl chr 3:145,057,458...145,080,166
JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:28649782 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
JBrowse link
G Actl6b actin-like 6B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
JBrowse link
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
JBrowse link
G Adap2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:65,138,006...65,166,147
Ensembl chr10:65,138,020...65,165,604
JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
JBrowse link
G Agtpbp1 ATP/GTP binding carboxypeptidase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:5,120,540...5,238,874
Ensembl chr17:5,120,609...5,238,869
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15322546 PMID:23532844 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32681751 NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
JBrowse link
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay
ClinVar PMID:21782149 PMID:24088041 PMID:25125236 PMID:25413698 PMID:25464108 More... NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24700674 PMID:25558065 PMID:25741868 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20805988 NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
JBrowse link
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
JBrowse link
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741885 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Arl14ep ADP-ribosylation factor like GTPase 14 effector protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 NCBI chr 3:93,441,952...93,454,282
Ensembl chr 3:93,443,183...93,454,155
JBrowse link
G As3mt arsenite methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28235556 NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay
ClinVar PMID:21706002 PMID:25741868 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
JBrowse link
G Atad5 ATPase family, AAA domain containing 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24631656 More... NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26539891 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bcas3 BCAS3, microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741869 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:99,273,238...99,274,799
Ensembl chr  X:99,273,161...99,274,800
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868 PMID:28942966 NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:146,456,344...146,472,781
Ensembl chr 4:146,456,318...146,472,649
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9654207 PMID:10206677 PMID:10400129 PMID:10801053 PMID:11313766 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16325861 PMID:16787562 PMID:18354422 PMID:20301674 PMID:24486772 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741872 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:29100089 PMID:32581362 NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:20694012 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741891 PMID:27479907 PMID:28135719 PMID:28807008 More... NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16682973 PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cep97 centrosomal protein 97 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr11:44,683,503...44,711,471
Ensembl chr11:44,683,506...44,711,471
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr16:75,733,958...75,744,977
Ensembl chr16:75,733,805...75,744,984
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:30559488 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33944996 NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20805988 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:23,729,194...23,795,391
Ensembl chr  X:23,729,338...23,793,238
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33217309 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
G Clip1 CAP-GLY domain containing linker protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr12:32,910,932...33,017,891
Ensembl chr12:32,910,977...33,017,884
JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
JBrowse link
G Cntn4 contactin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chr 4:138,624,584...139,622,499
Ensembl chr 4:139,099,152...139,621,090
JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Coprs coordinator of PRMT5 and differentiation stimulator ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr16:75,721,264...75,726,375
Ensembl chr16:75,720,061...75,726,375
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 5:8,559,745...8,888,492
Ensembl chr 5:8,526,741...8,888,485
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22425360 PMID:25407461 PMID:25558065 PMID:25741868 PMID:26092869 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Crlf3 cytokine receptor-like factor 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:65,024,228...65,060,746
Ensembl chr10:65,023,388...65,060,670
JBrowse link
G Crybg1 crystallin beta-gamma domain containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr20:47,425,030...47,496,918
Ensembl chr20:47,426,183...47,621,392
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:8135271 PMID:17273978 PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741870 PMID:30664714 NCBI chr10:30,621,318...30,741,113
Ensembl chr10:30,621,318...30,741,113
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176821 PMID:25558065 PMID:25741868 PMID:28600779 PMID:29034544 NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
JBrowse link
G Ddc dopa decarboxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741895 NCBI chr  X:9,479,532...9,493,455
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Ddx5 DEAD-box helicase 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:8259166 PMID:8737829 PMID:9024557 PMID:9653161 PMID:9683613 More... NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28327206 PMID:29100085 PMID:32581362 NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
JBrowse link
G Dhx58 DEXH-box helicase 58 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:85,620,352...85,631,776
Ensembl chr10:85,620,357...85,631,525
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24781755 PMID:25558065 NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G Dmbx1 diencephalon/mesencephalon homeobox 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 5:129,394,221...129,403,040
Ensembl chr 5:129,394,221...129,403,040
JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
JBrowse link
G Dock3 dedicator of cyto-kinesis 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30976111 NCBI chr 8:107,552,462...107,903,527
Ensembl chr 8:107,552,463...107,903,514
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18060736 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32576952 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21592505 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:97,607,577...97,658,115
Ensembl chr  X:97,607,719...97,655,684
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741904 PMID:28527814 PMID:31028357 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25590979 PMID:25741868 PMID:27754416 PMID:29286531 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25741883 More... NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22492562 PMID:25741868 PMID:26893310 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:32581362 PMID:33956416 NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741880 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32197074 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
JBrowse link
G Elavl2 ELAV like RNA binding protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:105,960,872...106,086,539
Ensembl chr 5:105,960,875...106,109,097
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:56,724,101...56,744,228
Ensembl chr16:56,724,115...56,744,226
JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:64,485,760...64,489,660
Ensembl chr10:64,485,200...64,489,843
JBrowse link
G Evi2b ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:64,472,693...64,474,311
Ensembl chr10:64,471,505...64,481,560
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19578037 PMID:25741868 PMID:28492532 PMID:28661489 PMID:32581362 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18514161 PMID:25741868 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24035193 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25356970 PMID:25741868 PMID:25944380 PMID:25966631 PMID:26795593 More... NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33971351 NCBI chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019
JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741873 PMID:27523599 PMID:27677260 PMID:30631341 More... NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
JBrowse link
G Golph3 golgi phosphoprotein 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:61,348,030...61,376,051
Ensembl chr 2:61,348,030...61,376,049
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 More... NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741907 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:27159321 PMID:28492532 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741871 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741889 PMID:31319223 NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:27435318 PMID:32286009 NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344
JBrowse link
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
JBrowse link
G H3f3a H3.3 histone A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21636898 PMID:25741868 PMID:33268356 NCBI chr13:92,533,294...92,544,903
Ensembl chr13:92,533,298...92,544,908
JBrowse link
G H3f3b H3.3 histone B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:33268356 NCBI chr10:101,256,488...101,258,712
Ensembl chr10:101,256,480...101,258,709
JBrowse link
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26437029 PMID:32581362 NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
JBrowse link
G Harbi1 harbinger transposase derived 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26671848 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1318511 PMID:1831451 PMID:1832817 PMID:2521932 PMID:2961848 More... NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
JBrowse link
G Hspb11 heat shock protein family B (small), member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31546644 NCBI chr 5:122,035,588...122,062,421
Ensembl chr 5:122,035,581...122,062,421
JBrowse link
G Hspb9 heat shock protein family B (small) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31546644 NCBI chr10:85,641,284...85,641,929
Ensembl chr10:85,641,284...85,641,929
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741905 NCBI chr  X:20,871,278...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:106,528,053...106,530,401
JBrowse link
G Isca2 iron-sulfur cluster assembly 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,418,509...104,420,019
Ensembl chr 6:104,418,454...104,420,045
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22544367 PMID:25741868 PMID:25741877 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16002581 PMID:25741868 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:12754513 PMID:20805988 PMID:22275249 PMID:24318194 PMID:25741868 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741879 NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23086397 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
JBrowse link
G Kdm2b lysine demethylase 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
JBrowse link
G Kif1a kinesin family member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Kif5b kinesin family member 5B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:51,489,873...51,527,508
Ensembl chr17:51,489,944...51,527,508
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741878 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22832583 PMID:25741868 PMID:29926297 PMID:30352910 PMID:30981987 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25644381 PMID:28492532 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687
JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
JBrowse link
G Lmbrd2 LMBR1 domain containing 2 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:32820033 NCBI chr 2:58,189,558...58,251,565
Ensembl chr 2:58,189,558...58,247,076
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26539891 NCBI chr 1:90,873,542...90,887,205
Ensembl chr 1:90,873,549...90,886,208
JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741906 NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:17632512 PMID:28492532 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30976112 NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:77,901,156...77,903,997
Ensembl chr 3:77,901,158...77,903,130
JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Global developmental delay 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 Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741884 NCBI chr12:37,807,596...38,004,485
Ensembl chr12:37,808,285...38,004,473
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16714318 PMID:21715711 PMID:26955893 PMID:28492532 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20684000 PMID:22105986 PMID:25558065 NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
G Mir193a microRNA 193a ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9311737 PMID:11948175 PMID:15475387 PMID:16736289 PMID:17135187 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741893 PMID:26497905 PMID:27105897 PMID:28492532 NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728
JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
JBrowse link
G Msl3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:25,638,029...25,655,698
Ensembl chr  X:25,637,804...25,655,697
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28027978 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28027978 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741892 More... NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231
JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Nans N-acetylneuraminate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27213289 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
JBrowse link
G Nckap1 NCK-associated protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741875 NCBI chr 3:65,417,450...65,491,769
Ensembl chr 3:65,417,453...65,492,217
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
JBrowse link
G Ndc1 NDC1 transmembrane nucleoporin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:122,155,992...122,202,295
Ensembl chr 5:122,155,967...122,202,291
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Ngly1 N-glycanase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 PMID:23040504 More... NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link
G Nol11 nucleolar protein 11 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28942966 NCBI chr10:92,119,000...92,141,688
Ensembl chr10:92,121,833...92,141,677
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
JBrowse link
G Nsun2 NOP2/Sun RNA methyltransferase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:33,662,139...33,685,887
Ensembl chr 1:33,662,139...33,685,862
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31372774 PMID:31692205 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15494731 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148
JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
JBrowse link
G Omg oligodendrocyte-myelin glycoprotein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:64,461,350...64,464,084
Ensembl chr10:64,461,350...64,464,084
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25741868 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304
JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741903 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:5116697 PMID:18469813 PMID:21053371 PMID:22267240 PMID:22946748 More... NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:30343942 NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Pde10a phosphodiesterase 10A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27058446 PMID:32581362 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
JBrowse link
G Pdzd2 PDZ domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:61,384,614...61,770,516
Ensembl chr 2:61,386,381...61,770,524
JBrowse link
G Pelp1 proline, glutamate and leucine rich protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:55,094,798...55,111,833
Ensembl chr10:55,094,796...55,111,994
JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:87,536,650...87,681,233 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30345601 NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
JBrowse link
G Phactr1 phosphatase and actin regulator 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:21,560,364...22,040,166 JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741900 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27916860 PMID:30976099 PMID:32581362 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16783378 PMID:32581362 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:109,428,600...109,460,373
Ensembl chr 5:109,428,265...109,460,282
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Global developmental delay
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20118933 PMID:25558065 NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26077850 PMID:27148570 PMID:31782611 NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12210792 PMID:12297582 PMID:12707443 PMID:12825077 PMID:12975295 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741874 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 More... NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
JBrowse link
G Psmd12 proteasome 26S subunit, non-ATPase 12 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:92,438,223...92,457,323
Ensembl chr10:92,438,298...92,457,287
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:18759867 PMID:19265751 PMID:19321504 PMID:25741868 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:31395947 NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
JBrowse link
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Developmental delay, global
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 More...
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr20:47,357,211...47,382,135
Ensembl chr20:47,357,216...47,382,135
JBrowse link
G Rab11fip4 RAB11 family interacting protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:64,550,109...64,658,123
Ensembl chr10:64,550,177...64,654,759
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741888 PMID:28886345 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16931511 PMID:17686188 PMID:25741868 PMID:25741902 PMID:26467025 NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22366785 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28857120 NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741900 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25735484 PMID:25741868
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:65,170,560...65,189,791 JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
JBrowse link
G Rps6kc1 ribosomal protein S6 kinase C1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr13:102,346,160...102,491,000
Ensembl chr13:102,346,160...102,490,303
JBrowse link
G Rrp8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:160,081,092...160,088,709
Ensembl chr 1:160,084,295...160,089,331
JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
JBrowse link
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868 NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12566275 PMID:16199547 PMID:17347258 PMID:18804930 PMID:18930999 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25725044 PMID:25741868 PMID:27900360 PMID:28492532 PMID:30109124 More... NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19763161 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11231286 PMID:25356899 PMID:25741868 PMID:27775603 PMID:28135719 More... NCBI chr19:53,561,262...53,562,780
Ensembl chr19:53,561,190...53,563,819
JBrowse link
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr12:33,395,963...33,421,671
Ensembl chr12:33,396,120...33,426,934
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:7493035 PMID:9285796 PMID:9401012 PMID:15146460 PMID:18407553 More... NCBI chr10:104,596,810...104,613,510 JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:16284256 PMID:25741868 PMID:32581362 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9462754 PMID:10980529 PMID:11603379 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:22243965 PMID:32581362 NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24824130 NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25363768 PMID:25741868 PMID:27824329 PMID:28492532 PMID:30132828 More... NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11326334 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32581362 PMID:32860008 NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741897 NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27018474 NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:95,856,039...95,876,434
Ensembl chr 1:95,856,036...95,876,392
JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25590979 PMID:27256762 PMID:27545676 PMID:27545680 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
JBrowse link
G ST7 suppression of tumorigenicity 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 4:46,041,655...46,289,745
Ensembl chr 4:46,042,236...46,289,740
JBrowse link
G Stag1 stromal antigen 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741896 NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677
JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868 PMID:28492532 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
JBrowse link
G Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:31616000 NCBI chr10:90,553,124...90,873,477
Ensembl chr10:90,553,002...90,868,756
JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr10:62,373,076...62,465,295
Ensembl chr10:62,381,404...62,465,766
JBrowse link
G Tasp1 taspase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31209944 NCBI chr 3:127,176,416...127,408,039
Ensembl chr 3:127,176,692...127,399,600
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 PMID:31922275 PMID:32581362 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:28492532 More... NCBI chr 2:221,175,749...221,348,126
Ensembl chr 2:221,175,785...221,348,126
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:100,010,675...100,012,637
Ensembl chr  X:100,010,690...100,012,654
JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868 PMID:25741890 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:26092869 NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
JBrowse link
G Tefm transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486
JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr10:79,749,242...79,760,807 JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 3:155,529,298...155,532,662
Ensembl chr 3:155,529,298...155,532,728
JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:33586135 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:31278393 NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
JBrowse link
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741898 NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
JBrowse link
G Tsen15 tRNA splicing endonuclease subunit 15 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:27392077 NCBI chr13:64,490,216...64,505,617
Ensembl chr13:64,490,218...64,505,617
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
G Tuba1a tubulin, alpha 1A ISO DNA:missense mutation:exon:
ClinVar Annotator: match by term: Global developmental delay
ClinVar
RGD
PMID:18414213 PMID:25741868 PMID:30087272 PMID:30744660 PMID:32581362 More... RGD:12859087 NCBI chr 7:130,113,214...130,116,880 JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24785942 PMID:32581362 NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15173253 PMID:25741868 PMID:32581362 NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
JBrowse link
G Wdfy4 WDFY family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr16:8,221,853...8,450,494
Ensembl chr16:8,221,719...8,450,491
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr17:61,637,258...61,703,664
Ensembl chr17:61,637,258...61,703,677
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176820 PMID:23687123 PMID:24368176 PMID:24621584 PMID:25356899 More... NCBI chr  X:14,776,280...14,782,197
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
JBrowse link
G Wdr70 WD repeat domain 70 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:56,951,345...57,191,244
Ensembl chr 2:56,951,355...57,191,187
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16199547 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 More... NCBI chr19:42,432,141...43,360,278 JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27633801 PMID:33490854 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
JBrowse link
G Zmynd11 zinc finger, MYND-type containing 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741899 NCBI chr17:60,542,669...60,631,913
Ensembl chr17:60,543,077...60,631,902
JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Malpuech facial clefting syndrome ClinVar
OMIM
PMID:28301481 NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
AGAT deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar Annotator: match by term: AGAT deficiency
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
ClinVar Annotator: match by OMIM:612718
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:17576681 More... NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
JBrowse link
G MGC105649 hypothetical LOC302884 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,719,952...109,723,507
Ensembl chr 3:109,719,897...109,724,006
Ensembl chr 3:109,719,897...109,724,006
JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
JBrowse link
G Spata5l1 spermatogenesis associated 5-like 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
JBrowse link
AMED syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED syndrome, digenic OMIM
ClinVar
PMID:33355142 NCBI chr 2:226,975,184...226,987,591 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:34,949,549...34,982,527 JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Arboleda-Tham syndrome
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
OMIM
ClinVar
PMID:17374998 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 More... NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar
OMIM
PMID:25741868 PMID:29432562 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
Bainbridge-Ropers syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Bainbridge-Ropers syndrome
ClinVar Annotator: match by OMIM:615485
OMIM
ClinVar
PMID:23383720 PMID:25326635 PMID:25741868 PMID:26647312 PMID:27075689 More... NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome OMIM
ClinVar
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 More... NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
JBrowse link
Beck-Fahrner Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Beck-Fahrner syndrome
ClinVar Annotator: match by term: TET3 deficiency
ClinVar Annotator: match by term: BECK-FAHRNER SYNDROME
OMIM
ClinVar
PMID:25741868 PMID:30167849 PMID:31928709 NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
JBrowse link
Bosch-Boonstra-Schaaf optic atrophy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam172a family with sequence similarity 172, member A ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar Annotator: match by OMIM:615722
OMIM
ClinVar
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,907,504...7,908,738 JBrowse link
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
JBrowse link
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: MACINNES SYNDROME
ClinVar Annotator: match by term: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
ClinVar
OMIM
PMID:25741868 PMID:28257692 NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
JBrowse link
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay
ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24358150 PMID:25741868 PMID:28492532 More... NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY ClinVar PMID:29997391 PMID:30410802 NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures
ClinVar
OMIM
PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
JBrowse link
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oxr1 oxidation resistance 1 ISO OMIM NCBI chr 7:72,528,782...72,965,666
Ensembl chr 7:72,528,786...72,965,666
JBrowse link
cerebellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31727539 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21735175 PMID:25326635 PMID:25741868 PMID:31474318 PMID:32581362 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:26235985 PMID:31474318 NCBI chr  X:9,479,532...9,493,455
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 2:178,888,688...178,912,731 JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:65,721,724...65,824,151
Ensembl chr  X:65,721,779...65,824,139
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:8929944 PMID:16650080 PMID:25741868 PMID:31474318 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905
JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633
JBrowse link
G Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31785787 NCBI chr 7:72,528,782...72,965,666
Ensembl chr 7:72,528,786...72,965,666
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:27061686 PMID:29881806 PMID:31474318 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 9:950,939...967,905
Ensembl chr 9:950,939...961,521
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29276005 PMID:31474318 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 PMID:32963807 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 7:130,113,214...130,116,880 JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957 PMID:25741868 PMID:31474318 NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr17:61,637,258...61,703,664
Ensembl chr17:61,637,258...61,703,677
JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519 PMID:25741868 PMID:28492532 NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,893,573...79,903,438 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,190,251...48,229,906
Ensembl chr15:48,189,073...48,304,136
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,479,535...36,496,069
Ensembl chr15:36,479,534...36,495,697
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,774,492...35,778,818
Ensembl chr15:35,774,326...35,779,415
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,800,077...79,806,064 JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:72,698,188...73,142,707
Ensembl chr15:72,699,094...73,142,594
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,567,029...78,769,833
Ensembl chr15:78,567,023...78,769,783
JBrowse link
G LOC102554746 uncharacterized LOC102554746 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,786,992...75,797,631 JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,198,475...55,203,021
Ensembl chr15:55,198,459...55,205,872
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
JBrowse link
chromosome 17p13.3 duplication syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abr ABR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:61,262,516...61,461,331
Ensembl chr10:61,262,516...61,461,505
JBrowse link
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
JBrowse link
G Crk CRK proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406
JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
JBrowse link
Cohen syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Pepper syndrome
ClinVar Annotator: match by OMIM:216550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
JBrowse link
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar
OMIM
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 More... NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
ClinVar
OMIM
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 More... NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
JBrowse link
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
OMIM
ClinVar
PMID:17067864 PMID:25741868 PMID:30827498 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
Desanto-Shinawi Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME
ClinVar Annotator: match by term: Desanto-shinawi syndrome
ClinVar
OMIM
PMID:25741868 PMID:26264232 PMID:26757981 PMID:29190062 NCBI chr17:55,922,686...55,984,286
Ensembl chr17:55,923,123...55,982,301
JBrowse link
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES OMIM
ClinVar
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
JBrowse link
Developmental Delay with or without Dysmorphic Facies and Autism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
OMIM
ClinVar
PMID:25741868 PMID:30424743 PMID:30827496 NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28771897 PMID:32693025 NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ClinVar
OMIM
PMID:25741868 PMID:34211179 NCBI chr14:103,842,684...104,008,507
Ensembl chr14:103,842,684...104,008,507
JBrowse link
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar PMID:23033978 PMID:25741868 PMID:29209020 NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: PHIP-Related Disorder
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar
OMIM
PMID:16199547 PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 More... NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsx2 GS homeobox 2 ISO ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2
ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:31412107 NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
JBrowse link
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar
PMID:11690625 PMID:24668509 PMID:25741868 PMID:26048982 PMID:26795593 More... NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
JBrowse link
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY term browser
Symbol Object Name 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: EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:25741868 PMID:26974950 PMID:29463886 PMID:31197650 PMID:31595951 NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: FAUNDES-BANKA SYNDROME OMIM
ClinVar
PMID:33547280 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
JBrowse link
Forebrain Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Forebrain defects ClinVar PMID:11062482 PMID:12073012 NCBI chr 8:110,936,119...110,969,189
Ensembl chr 8:110,938,165...110,969,185
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO ClinVar Annotator: match by null ClinVar PMID:11062482 PMID:12073012 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by term: Frank-Ter Haar syndrome
ClinVar Annotator: match by term: Frank Ter Haar syndrome
ClinVar Annotator: match by OMIM:249420
OMIM
ClinVar
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
JBrowse link
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cux1 cut-like homeobox 1 ISO ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development
ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
OMIM
ClinVar
PMID:25741868 PMID:30014507 NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
JBrowse link
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO Musladin-Lueke syndrome OMIA PMID:20862248 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ClinVar
OMIM
PMID:29463886 PMID:32152250 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
ClinVar
OMIM
PMID:12840224 PMID:25741868 PMID:27964749 NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
JBrowse link
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: GLOW SYNDROME OMIM
ClinVar
PMID:19556464 PMID:21266384 PMID:24676357 PMID:24839956 PMID:25741868 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE OMIM
ClinVar
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
ClinVar Annotator: match by OMIM:612938
OMIM
ClinVar
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 More... NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: HEYN-SPROUL-JACKSON SYNDROME ClinVar
OMIM
PMID:30478443 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rala RAS like proto-oncogene A ISO ClinVar Annotator: match by term: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ClinVar
OMIM
PMID:11701921 PMID:15950903 PMID:15980073 PMID:25741868 PMID:30500825 More... NCBI chr17:47,092,139...47,145,192
Ensembl chr17:47,092,207...47,144,063
JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614300
OMIM
ClinVar
CTD
PMID:21963049 PMID:25741868 PMID:26975589 PMID:28492532 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
JBrowse link
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development
ClinVar Annotator: match by term: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31155284 NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
JBrowse link
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome
ClinVar Annotator: match by term: EBF3-related disorder
ClinVar
OMIM
PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28487885 More... NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
OMIM
ClinVar
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 More... NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
JBrowse link
Immunodeficiency 78 with Autoimmunity and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY OMIM
ClinVar
PMID:25414442 PMID:25525876 PMID:33586135 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia
ClinVar
OMIM
PMID:25741868 PMID:26619011 PMID:29018201 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar
PMID:19610118 PMID:25620207 PMID:25741868 NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
JBrowse link
KINSSHIP SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff3 AF4/FMR2 family, member 3 ISO ClinVar Annotator: match by term: KINSSHIP SYNDROME ClinVar
OMIM
PMID:31388108 PMID:33961779 NCBI chr 9:40,399,109...40,856,716
Ensembl chr 9:40,404,375...40,857,247
JBrowse link
KOHLSCHUTTER-TONZ SYNDROME-LIKE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: KOHLSCHUTTER-TONZ SYNDROME-LIKE OMIM
ClinVar
PMID:15930900 PMID:16371359 PMID:17652321 PMID:25741868 NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
JBrowse link
Lamb-Shaffer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Lamb-shaffer syndrome ClinVar
OMIM
PMID:22290657 PMID:23220431 PMID:23498568 PMID:25741868 PMID:26111154 More... NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
ClinVar
OMIM
PMID:25741868 PMID:32197074 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
JBrowse link
Li-Campeau Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: LI-CAMPEAU SYNDROME OMIM
ClinVar
PMID:33340455 NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
JBrowse link
lissencephaly 7 with cerebellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
JBrowse link
Loucks-Innes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:26220823 PMID:28492532 PMID:29362492 More... NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
JBrowse link
Luscan-Lumish syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: LUSCAN-LUMISH SYNDROME
ClinVar Annotator: match by term: Luscan-lumish syndrome
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955