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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
 xref: EFO:0003852;   MESH:D002658;   MONDO:0005287;   NCI:C116942


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Developmental Disabilities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAR2 AAR2 splicing factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr20:36,236,478...36,256,933
Ensembl chr20:36,236,131...36,270,918 		JBrowse link
G ACO2 aconitase 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121 		JBrowse link
G ACTL6A actin like 6A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28649782 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G ACTL6B actin like 6B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ACYP1 acylphosphatase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 More... NCBI chr14:75,053,243...75,069,490
Ensembl chr14:75,053,237...75,069,483 		JBrowse link
G ADAP2 ArfGAP with dual PH domains 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:30,921,945...30,959,322
Ensembl chr17:30,906,344...30,959,945 		JBrowse link
G ADGRL1 adhesion G protein-coupled receptor L1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:35907405 NCBI chr19:14,147,743...14,206,169
Ensembl chr19:14,147,743...14,206,187 		JBrowse link
G ADGRL1-AS1 ADGRL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:35907405 NCBI chr19:14,137,152...14,171,264
Ensembl chr19:14,137,086...14,171,268 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15322546 PMID:23532844 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32681751 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AMBRA1 autophagy and beclin 1 regulator 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:46,396,412...46,594,023
Ensembl chr11:46,396,414...46,594,125 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28492532 PMID:32552793 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21782149 PMID:24088041 PMID:25125236 PMID:25413698 PMID:25464108 More... NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr14:23,559,567...23,567,791
Ensembl chr14:23,559,565...23,568,070 		JBrowse link
G AP1G2-AS1 AP1G2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr14:23,561,097...23,568,076
Ensembl chr14:23,561,097...23,568,237 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G ARFGAP1 ARF GTPase activating protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20805988 NCBI chr20:63,272,813...63,289,790
Ensembl chr20:63,272,785...63,289,790 		JBrowse link
G ARFGEF1 ARF guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:34113008 NCBI chr 8:67,173,511...67,343,781
Ensembl chr 8:67,173,511...67,343,781 		JBrowse link
G ARFGEF1-DT ARFGEF1 divergent transcript IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21922598 PMID:23105115 PMID:25401298 PMID:25741868 PMID:26467025 More... NCBI chr 8:67,343,834...67,491,868
Ensembl chr 8:67,343,138...67,491,875 		JBrowse link
G ARFGEF2 ARF guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:17893116 PMID:18615734 PMID:23033978 PMID:25678704 PMID:25741868 More... NCBI chr  X:63,634,967...63,785,214
Ensembl chr  X:63,634,967...63,809,274 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741885 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID5B AT-rich interaction domain 5B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr10:61,901,699...62,096,944
Ensembl chr10:61,901,684...62,096,944 		JBrowse link
G ARL14EP ARF like GTPase 14 effector protein IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 NCBI chr11:30,323,104...30,338,223
Ensembl chr11:30,323,104...30,338,458 		JBrowse link
G AS3MT arsenite methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28235556 NCBI chr10:102,869,470...102,901,899
Ensembl chr10:102,869,470...102,901,899 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G ASH2L ASH2 like, histone lysine methyltransferase complex subunit IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr 8:38,105,493...38,140,080
Ensembl chr 8:38,105,493...38,144,076 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay		 ClinVar PMID:21706002 PMID:25741868 PMID:28492532 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32581362 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATAD5 ATPase family AAA domain containing 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:30,831,966...30,895,869
Ensembl chr17:30,831,966...30,895,869 		JBrowse link
G ATOH1 atonal bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 More... NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28135719 PMID:28492532 PMID:33833240 PMID:34909687 NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26539891 PMID:28492532 PMID:29790871 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:34022130 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BCAS3-AS1 BCAS3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:34022130 NCBI chr17:61,034,513...61,136,012
Ensembl chr17:61,034,416...61,136,127 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741869 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCORL1 BCL6 corepressor like 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G BEX3 brain expressed X-linked 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,376,323...103,378,164
Ensembl chr  X:103,376,395...103,378,164 		JBrowse link
G BFSP2 beaded filament structural protein 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:133,400,056...133,475,208
Ensembl chr 3:133,400,056...133,475,222 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28942966 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32652122 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G BRWD3 bromodomain and WD repeat domain containing 3 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chr  X:80,669,503...80,809,877
Ensembl chr  X:80,669,503...80,809,877 		JBrowse link
G BTD biotinidase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 More... NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26539891 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G C1orf105 chromosome 1 open reading frame 105 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741900 NCBI chr 1:172,420,685...172,468,829
Ensembl chr 1:172,420,685...172,468,831 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16325861 PMID:16787562 PMID:18354422 PMID:20301674 PMID:24486772 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741872 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CAMKMT calmodulin-lysine N-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32581362 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CASK-AS1 CASK antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:41,517,762...41,522,336
Ensembl chr  X:41,520,036...41,522,336 		JBrowse link
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CBL Cbl proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CC2D1A coiled-coil and C2 domain containing 1A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr19:13,906,201...13,930,879
Ensembl chr19:13,906,201...13,930,879 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741891 PMID:27479907 PMID:28135719 PMID:28492532 More... NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CDK20 cyclin dependent kinase 20 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:29127259 NCBI chr 9:87,966,441...87,974,533
Ensembl chr 9:87,966,441...87,974,753 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay		 ClinVar PMID:25741868 PMID:36937954 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr 1:109,249,539...109,275,751
Ensembl chr 1:109,249,539...109,275,751 		JBrowse link
G CEP128 centrosomal protein 128 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:8954020 PMID:8964822 PMID:12050212 PMID:16117192 PMID:19417038 More... NCBI chr14:80,476,969...80,959,502
Ensembl chr14:80,476,983...80,959,517 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP97 centrosomal protein 97 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr 3:101,724,614...101,770,562
Ensembl chr 3:101,724,534...101,770,562 		JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr21:36,385,392...36,419,015
Ensembl chr21:36,385,392...36,419,015 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30397230 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay		 CTD
ClinVar		 PMID:30559488 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33944996 NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321 		JBrowse link
G CHRM4 cholinergic receptor muscarinic 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:46,383,789...46,391,776
Ensembl chr11:46,383,789...46,391,776 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:20805988 NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660 		JBrowse link
G CLCN6 chloride voltage-gated channel 6 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33217309 NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079 		JBrowse link
G CLTC clathrin heavy chain IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CNTN4 contactin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chr 3:2,098,866...3,057,959
Ensembl chr 3:2,098,813...3,057,959 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 PMID:30311386 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COPRS coordinator of PRMT5 and differentiation stimulator IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:31,851,871...31,859,244
Ensembl chr17:31,851,871...31,859,291 		JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18319074 PMID:20580948 PMID:24164873 PMID:28492532 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G CPA6 carboxypeptidase A6 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21922598 PMID:23105115 PMID:25401298 PMID:25741868 PMID:26467025 More... NCBI chr 8:67,422,038...67,746,360
Ensembl chr 8:67,422,038...67,746,378 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24178751 PMID:25407461 PMID:25558065 PMID:25741868 PMID:26092869 More... NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr12:93,677,375...93,894,840
Ensembl chr12:93,677,375...93,894,840 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRLF3 cytokine receptor like factor 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:30,782,684...30,824,692
Ensembl chr17:30,769,388...30,824,692 		JBrowse link
G CRYBG1 crystallin beta-gamma domain containing 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:106,360,717...106,572,017
Ensembl chr 6:106,360,717...106,572,017 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTB-99A3.1 uncharacterized CTB-99A3.1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:146,563,226...146,622,284 JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CUL4B cullin 4B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741870 PMID:30664714 NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176821 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28600779 More... NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDC dopa decarboxylase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741895 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DDX5 DEAD-box helicase 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:64,498,254...64,506,866
Ensembl chr17:64,498,254...64,508,199 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DGKZ diacylglycerol kinase zeta IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:46,332,926...46,380,554
Ensembl chr11:46,332,905...46,380,554 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28327206 PMID:29100085 PMID:32581362 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24781755 PMID:25558065 PMID:25741868 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DIP2C disco interacting protein 2 homolog C IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr10:274,201...689,668
Ensembl chr10:274,201...689,668 		JBrowse link
G DMBX1 diencephalon/mesencephalon homeobox 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 1:46,489,836...46,516,216
Ensembl chr 1:46,489,836...46,516,216 		JBrowse link
G DOCK3 dedicator of cytokinesis 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30976111 NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18060736 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32576952 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DRD2 dopamine receptor D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21592505 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G DRP2 dystrophin related protein 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr  X:101,219,786...101,264,502
Ensembl chr  X:101,219,769...101,264,502 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741904 PMID:28527814 PMID:31028357 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25590979 PMID:25741868 PMID:27754416 PMID:28492532 PMID:29286531 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25741883 More... NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22492562 PMID:25058219 PMID:25741868 PMID:26893310 PMID:28492532 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:32581362 PMID:33956416 More... NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G EEF1B2 eukaryotic translation elongation factor 1 beta 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:206,159,609...206,162,928
Ensembl chr 2:206,159,585...206,162,928 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741880 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16199547 PMID:16826528 PMID:19264732 PMID:23232695 PMID:25741868 More... NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32197074 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G ELAVL2 ELAV like RNA binding protein 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 9:23,690,104...23,850,601
Ensembl chr 9:23,690,104...23,826,337 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 More... NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552 		JBrowse link
G EMC1-AS1 EMC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 More... NCBI chr 1:19,210,386...19,240,704
Ensembl chr 1:19,210,330...19,240,709 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266 		JBrowse link
G ENTPD1-AS1 ENTPD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,753,206...96,090,235
Ensembl chr10:95,732,716...96,090,356 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ERI1 exoribonuclease 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G EVI2A ecotropic viral integration site 2A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:31,316,410...31,321,622
Ensembl chr17:31,316,410...31,321,749 		JBrowse link
G EVI2B ecotropic viral integration site 2B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:31,303,770...31,314,054
Ensembl chr17:31,303,770...31,314,105 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25927356 PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25927356 PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FAT3 FAT atypical cadherin 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:92,224,818...92,896,473
Ensembl chr11:92,224,818...92,896,473 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FKTN fukutin IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay		 ClinVar PMID:16684786 PMID:20730588 PMID:25741868 PMID:26471271 PMID:28492532 More... NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXG1 forkhead box G1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19578037 PMID:25741868 PMID:28492532 PMID:28661489 PMID:32581362 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FOXP4 forkhead box P4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FZR1 fizzy and cell division cycle 20 related 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:36103875 NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18514161 PMID:22303015 PMID:25741868 PMID:28492532 PMID:35383156 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GK glycerol kinase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462 		JBrowse link
G GLDC glycine decarboxylase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 More... NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25356970 PMID:25741868 PMID:25966631 PMID:26795593 PMID:27068059 More... NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33971351 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNB5 G protein subunit beta 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741873 PMID:27523599 PMID:27677260 PMID:30631341 More... NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392 		JBrowse link
G GOLPH3 golgi phosphoprotein 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:32,124,716...32,174,319
Ensembl chr 5:32,124,716...32,174,319 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741907 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741871 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741889 PMID:31319223 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G H3-3A H3.3 histone A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21636898 PMID:25741868 PMID:33268356 PMID:34876591 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H3-3B H3.3 histone B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33268356 PMID:34876591 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		JBrowse link
G H4C3 H4 clustered histone 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26424145 PMID:26437029 PMID:28492532 PMID:32581362 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G HARBI1 harbinger transposase derived 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:46,602,861...46,617,895
Ensembl chr11:46,602,861...46,617,909 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26671848 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HEXA hexosaminidase subunit alpha IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 PMID:2137287 More... NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596 		JBrowse link
G HSPB9 heat shock protein family B (small) member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31546644 NCBI chr17:42,122,804...42,123,352
Ensembl chr17:42,122,804...42,123,352 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741905 PMID:28492532 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854 		JBrowse link
G IDS iduronate 2-sulfatase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:34670126 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IRF2BPL interferon regulatory factor 2 binding protein like IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708 		JBrowse link
G ISCA2 iron-sulfur cluster assembly 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20301783 PMID:22544363 PMID:22544367 PMID:25741868 PMID:25741877 More... NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KAT14 lysine acetyltransferase 14 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr20:18,137,153...18,188,035
Ensembl chr20:18,137,228...18,188,387 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16002581 PMID:25741868 PMID:28492532 PMID:33242881 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 EXP
IAGP		 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 chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741879 NCBI chr 6:72,622,064...73,198,853
Ensembl chr 6:72,621,792...73,198,853 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23086397 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KDM1A lysine demethylase 1A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KDM2B lysine demethylase 2B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr12:121,408,461...121,582,279
Ensembl chr12:121,429,096...121,582,279 		JBrowse link
G KIF1A kinesin family member 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KIF5B kinesin family member 5B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,015...32,056,425 		JBrowse link
G KIRREL3 kirre like nephrin family adhesion molecule 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr11:126,423,358...127,000,870
Ensembl chr11:126,423,358...127,003,460 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741878 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22832583 PMID:25741868 PMID:29926297 PMID:30352910 PMID:30981987 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019 		JBrowse link
G KMT5B lysine methyltransferase 5B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25644381 PMID:28492532 NCBI chr  X:65,512,582...65,534,787
Ensembl chr  X:65,438,549...65,534,810 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:36055214 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIX1L-AS1 LIX1L antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22366785 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28857120 More... NCBI chr 1:145,926,831...145,941,203
Ensembl chr 1:145,926,590...145,959,179 		JBrowse link
G LMBRD2 LMBR1 domain containing 2 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:32820033 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887 		JBrowse link
G LOC101927078 uncharacterized LOC101927078 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:114,447,418...114,773,413 JBrowse link
G LOC105377967 uncharacterized LOC105377967 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24824130 NCBI chr 6:118,085,903...118,095,472 JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chr  X:154,335,912...154,349,572 JBrowse link
G LOC123775393 OCT4-NANOG hESC enhancer GRCh37_chr6:107061294-107061801 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:106,613,419...106,613,926 JBrowse link
G LOC126805726 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32576952 NCBI chr 1:43,971,353...43,972,882 JBrowse link
G LOC126805822 BRD4-independent group 4 enhancer GRCh37_chr1:110170748-110171947 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28492532 PMID:32552793 NCBI chr 1:109,627,640...109,629,325 JBrowse link
G LOC126805851 MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22366785 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28857120 More... NCBI chr 1:145,926,420...145,927,740 JBrowse link
G LOC126806462 MED14-independent group 3 enhancer GRCh37_chr2:200136608-200137807 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:199,271,885...199,273,084 JBrowse link
G LOC126859565 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:5,368,176...5,369,711 JBrowse link
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chr16:75,629,470...75,630,669 JBrowse link
G LOC126863256 BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176820 PMID:24368176 PMID:24621584 PMID:25356899 PMID:25741868 More... NCBI chr  X:49,077,189...49,078,388 JBrowse link
G LOC129389600 MPRA-validated peak6003 silencer IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:106,581,281...106,581,481 JBrowse link
G LOC129391070 MPRA-validated peak3378 silencer IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr19:13,921,542...13,921,742 JBrowse link
G LOC129996910 ATAC-STARR-seq lymphoblastoid active region 24892 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:106,629,580...106,629,719 JBrowse link
G LOC129996911 ATAC-STARR-seq lymphoblastoid active region 24893 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:106,629,750...106,629,809 JBrowse link
G LOC129997070 ATAC-STARR-seq lymphoblastoid silent region 17500 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24824130 NCBI chr 6:118,280,322...118,280,381 JBrowse link
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741906 NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260 		JBrowse link
G LRP1 LDL receptor related protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361 		JBrowse link
G LRP2 LDL receptor related protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G LRRC32 leucine rich repeat containing 32 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30976112 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747 		JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31010896 NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30979967 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351 		JBrowse link
G MCPH1 microcephalin 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508 		JBrowse link
G MDK midkine IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:46,380,784...46,383,837
Ensembl chr11:46,380,756...46,383,837 		JBrowse link
G MEA1 male-enhanced antigen 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 More... NCBI chr 6:43,011,143...43,016,886
Ensembl chr 6:43,011,143...43,016,868 		JBrowse link
G MECP2 methyl-CpG binding protein 2 EXP
IAGP		 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:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED13L mediator complex subunit 13L IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25712080 PMID:25741868 PMID:25741884 PMID:25758992 PMID:28492532 More... NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16714318 PMID:16835246 PMID:21715711 PMID:23781337 PMID:26955893 More... NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20684000 PMID:22105986 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MIR193A microRNA 193a IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9311737 PMID:11948175 PMID:15475387 PMID:16736289 PMID:17135187 More... NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741893 PMID:26497905 PMID:27105897 PMID:28492532 More... NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MORF4L2 mortality factor 4 like 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,675,498...103,688,047
Ensembl chr  X:103,675,496...103,688,158 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 2:201,644,874...201,698,644
Ensembl chr 2:201,644,870...201,698,694 		JBrowse link
G MSL3 MSL complex subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28027978 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28027978 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28027978 PMID:31965079 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28027978 PMID:31965079 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28027978 PMID:32715519 PMID:32906214 PMID:39468830 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MTCL3 MTCL family member 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:127,472,974...127,519,335
Ensembl chr 6:127,472,806...127,519,335 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741868 More... NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236 		JBrowse link
G MTSS2 MTSS I-BAR domain containing 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr16:70,661,204...70,686,053
Ensembl chr16:70,661,204...70,686,053 		JBrowse link
G MVP-DT MVP divergent transcript IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:29,808,644...29,820,367
Ensembl chr16:29,808,636...29,821,252 		JBrowse link
G MYCBP2 MYC binding protein 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr13:77,044,657...77,327,094
Ensembl chr13:77,042,474...77,327,094 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G MYO19 myosin XIX IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,495,636...36,544,815
Ensembl chr17:36,495,636...36,543,435 		JBrowse link
G NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28191889 PMID:28303347 PMID:29656860 PMID:37673932 NCBI chr 4:139,301,505...139,391,384
Ensembl chr 4:139,301,446...139,420,033 		JBrowse link
G NANS N-acetylneuraminate synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27213289 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NCKAP1 NCK associated protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741875 NCBI chr 2:182,909,115...183,038,457
Ensembl chr 2:182,909,115...183,038,858 		JBrowse link
G NCOR1 nuclear receptor corepressor 1 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr17:16,029,157...16,215,534
Ensembl chr17:16,029,065...16,218,185 		JBrowse link
G NDC1 NDC1 transmembrane nucleoporin IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:53,765,478...53,838,296
Ensembl chr 1:53,765,478...53,838,463 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25125150 PMID:25741868 PMID:27620904 PMID:27870114 PMID:28492532 NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFE2L1 NFE2 like bZIP transcription factor 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:48,048,359...48,061,545
Ensembl chr17:48,048,329...48,061,545 		JBrowse link
G NGLY1 N-glycanase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30606125 More... NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NKAP NFKB activating protein IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 More... NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
G NOL11 nucleolar protein 11 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28942966 NCBI chr17:67,717,936...67,744,531
Ensembl chr17:67,717,931...67,744,531 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP DNA:missense mutation:CDS:p.P459A (human) RGD PMID:36653413 RGD:155900764 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 More... NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NR2F1-AS1 NR2F1 regulatory antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:93,409,356...93,585,589
Ensembl chr 5:93,360,779...93,585,649 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125 		JBrowse link
G NTNG2 netrin G2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31372774 PMID:31692205 NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15494731 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
G NUP107 nucleoporin 107 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP155 nucleoporin 155 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:37,288,137...37,371,106
Ensembl chr 5:37,288,137...37,371,124 		JBrowse link
G NUP214 nucleoporin 214 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663 		JBrowse link
G OCLN occludin IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G OMG oligodendrocyte myelin glycoprotein IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:31,294,647...31,297,239
Ensembl chr17:31,272,013...31,297,539 		JBrowse link
G OTC ornithine transcarbamylase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More... NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 8:143,977,158...144,012,764
Ensembl chr 8:143,977,153...144,012,772 		JBrowse link
G PC pyruvate carboxylase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741903 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:5116697 PMID:18469813 PMID:21053371 PMID:22267240 PMID:22946748 More... NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:28492532 More... NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G PCNT pericentrin IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDE10A phosphodiesterase 10A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27058446 PMID:32581362 NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117 		JBrowse link
G PDZD2 PDZ domain containing 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:31,639,131...32,110,932
Ensembl chr 5:31,639,131...32,110,932 		JBrowse link
G PELP1 proline, glutamate and leucine rich protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:4,669,774...4,704,137
Ensembl chr17:4,669,774...4,704,337 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30345601 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PHF6 PHD finger protein 6 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741900 NCBI chr 1:172,441,457...172,444,069
Ensembl chr 1:172,370,189...172,444,086 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24463883 PMID:25558065 PMID:28492532 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:27916860 PMID:30976099 PMID:32581362 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540 		JBrowse link
G PLP1 proteolipid protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PMP22 peripheral myelin protein 22 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP
EXP		 ClinVar Annotator: match by term: Global developmental delay
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:20118933 PMID:25558065 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26077850 PMID:27148570 PMID:31782611 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741874 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PPP2R2B protein phosphatase 2 regulatory subunit Bbeta IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:146,580,742...147,081,520
Ensembl chr 5:146,580,742...147,084,784 		JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr14:101,760,573...101,927,992
Ensembl chr14:101,761,709...101,927,989 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 More... NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:34715011 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRORP-PSMA6 PRORP-PSMA6 readthrough IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:34715011 NCBI chr14:35,121,839...35,317,471 JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473 		JBrowse link
G PTEN phosphatase and tensin homolog EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay		 CTD
ClinVar		 PMID:18759867 PMID:19265751 PMID:19321504 PMID:25741868 PMID:26467025 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11992261 PMID:14644997 PMID:15987685 PMID:16358218 PMID:17020470 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28492532 PMID:31395947 NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,435 		JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991 		JBrowse link
G PURA purine rich element binding protein A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 More... NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:106,629,578...106,668,417
Ensembl chr 6:106,629,578...106,668,417 		JBrowse link
G RAB11FIP4 RAB11 family interacting protein 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:31,391,675...31,538,211
Ensembl chr17:31,391,675...31,538,211 		JBrowse link
G RAB40A RAB40A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,493,266...103,519,489
Ensembl chr  X:103,499,130...103,519,489 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741888 PMID:28886345 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16931511 PMID:17686188 PMID:25741868 PMID:25741902 PMID:26467025 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22366785 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28857120 More... NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25735484 PMID:25741868 NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,624 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNF135 ring finger protein 135 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RPS6KC1 ribosomal protein S6 kinase C1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:213,051,241...213,862,735
Ensembl chr 1:213,051,233...213,274,774 		JBrowse link
G RTN4IP1 reticulon 4 interacting protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:33037779 NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30755392 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SATB2 SATB homeobox 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:31849593 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCAMP5 secretory carrier membrane protein 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:31439720 PMID:33390987 NCBI chr15:74,995,563...75,021,495
Ensembl chr15:74,957,219...75,021,495 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:19563458 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19763161 PMID:23129781 PMID:25250524 PMID:25741868 PMID:26467025 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 PMID:32581362 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:28235671 PMID:28492532 PMID:29466837 PMID:29740860 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25725044 PMID:25741868 PMID:27900360 PMID:28492532 PMID:30109124 More... NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19763161 PMID:23129781 PMID:25250524 PMID:25741868 PMID:26467025 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SET SET nuclear proto-oncogene IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11231286 PMID:25356899 PMID:25741868 PMID:27775603 PMID:28135719 More... NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400 		JBrowse link
G SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:15146460 More... NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G SHANK1 SH3 and multiple ankyrin repeat domains 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr19:50,659,255...50,719,802
Ensembl chr19:50,659,255...50,719,802 		JBrowse link
G SHANK2 SH3 and multiple ankyrin repeat domains 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr11:70,467,854...71,253,228
Ensembl chr11:70,467,854...71,252,577 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay		 CTD
ClinVar		 PMID:16284256 PMID:25741868 PMID:32581362 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9462754 PMID:10980529 PMID:11603379 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay		 CTD
ClinVar		 PMID:22243965 PMID:32581362 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G SLC35F1 solute carrier family 35 member F1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24824130 NCBI chr 6:117,907,264...118,317,671
Ensembl chr 6:117,907,264...118,317,676 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25363768 PMID:25741868 PMID:27824329 PMID:28492532 PMID:30132828 More... NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SLC6A1-AS1 SLC6A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 3:11,006,098...11,019,224
Ensembl chr 3:11,006,098...11,019,224 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11326334 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32581362 PMID:32860008 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741897 NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCA5 SNF2 related chromatin remodeling ATPase 5 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 4:143,513,702...143,557,486
Ensembl chr 4:143,513,702...143,557,486 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:27018474 PMID:33609422 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33299146 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SNHG14 small nucleolar RNA host gene 14 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr15:24,823,608...25,419,462
Ensembl chr15:24,978,583...25,420,336 		JBrowse link
G SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr19:49,085,451...49,108,604
Ensembl chr19:49,085,419...49,108,605 		JBrowse link
G SOGA3-KIAA0408 SOGA3-KIAA0408 readthrough IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:127,438,406...127,519,335 JBrowse link
G SON SON DNA and RNA binding protein IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:11522779 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 More... NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 More... NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G ST7 suppression of tumorigenicity 7 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 7:116,953,501...117,230,176
Ensembl chr 7:116,953,238...117,230,176 		JBrowse link
G ST7-AS2 ST7 antisense RNA 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 7:117,072,072...117,145,592
Ensembl chr 7:117,072,072...117,146,480 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741896 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G STAMBP STAM binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G STARD9 StAR related lipid transfer domain containing 9 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr15:42,575,606...42,720,998
Ensembl chr15:42,575,606...42,720,998 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689 		JBrowse link
G SYNGAP1-AS1 SYNGAP1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:33,437,363...33,454,405
Ensembl chr 6:33,436,829...33,454,470 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841 		JBrowse link
G TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:31616000 NCBI chr17:62,966,235...63,427,703
Ensembl chr17:62,966,235...63,427,703 		JBrowse link
G TAOK1 TAO kinase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33565190 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
G TASP1 taspase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:31209944 NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:31922275 PMID:32581362 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBCD tubulin folding cofactor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16199547 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 More... NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TCEAL1 transcription elongation factor A like 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,628,716...103,630,953
Ensembl chr  X:103,628,704...103,630,953 		JBrowse link
G TCEAL3 transcription elongation factor A like 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,607,963...103,609,927
Ensembl chr  X:103,607,451...103,629,690 		JBrowse link
G TCEAL4 transcription elongation factor A like 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,576,231...103,587,729
Ensembl chr  X:103,576,231...103,587,729 		JBrowse link
G TCF12 transcription factor 12 IAGP ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay		 ClinVar PMID:36937954 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281 		JBrowse link
G TCF20 transcription factor 20 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616 		JBrowse link
G TCF4 transcription factor 4 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18728071 PMID:21671391 PMID:22460224 PMID:22678594 PMID:25741868 More... NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TCTN1 tectonic family member 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:26092869 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TEFM transcription elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr17:30,898,986...30,906,238
Ensembl chr17:30,897,336...30,906,238 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TMEM31 transmembrane protein 31 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,710,909...103,714,032
Ensembl chr  X:103,710,909...103,714,032 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TMEM92 transmembrane protein 92 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr17:50,271,406...50,281,485
Ensembl chr17:50,271,406...50,281,485 		JBrowse link
G TMPRSS9 transmembrane serine protease 9 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr19:2,360,265...2,426,261
Ensembl chr19:2,360,238...2,426,261 		JBrowse link
G TMSB15B thymosin beta 15B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:103,919,155...103,974,426
Ensembl chr  X:103,918,896...103,966,712
Ensembl chr  X:103,918,896...103,966,712 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		JBrowse link
G TP53RK TP53 regulating kinase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPO thyroid peroxidase IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:33586135 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TRH thyrotropin releasing hormone IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More... NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741898 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:27392077 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:8954020 PMID:8964822 PMID:12050212 PMID:16117192 PMID:19417038 More... NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G TUBA1A tubulin alpha 1a ISO
IAGP		 DNA:missense mutation:exon:
ClinVar Annotator: match by term: Global developmental delay		 ClinVar
RGD		 PMID:18414213 PMID:20466733 PMID:25131622 PMID:25741868 PMID:28492532 More... RGD:12859087 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18851904 PMID:24526230 PMID:24785942 PMID:24850488 PMID:25741868 More... NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:35977029 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay		 ClinVar PMID:25741868 PMID:28492532 PMID:36937954 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15141358 PMID:15173253 PMID:16199547 PMID:16648375 PMID:20461111 More... NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G VWA8 von Willebrand factor A domain containing 8 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:34660594 PMID:36937954 NCBI chr13:41,566,835...41,961,109
Ensembl chr13:41,566,835...41,961,120 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
G WDFY4 WDFY family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr10:48,684,873...48,982,956
Ensembl chr10:48,684,873...48,982,956 		JBrowse link
G WDR20 WD repeat domain 20 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr14:102,139,423...102,224,839
Ensembl chr14:102,139,503...102,224,847 		JBrowse link
G WDR37 WD repeat domain 37 IAGP ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay		 ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176820 PMID:23687123 PMID:24368176 PMID:24621584 PMID:25356899 More... NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G WDR70 WD repeat domain 70 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:37,379,318...37,753,435
Ensembl chr 5:37,379,285...37,753,435 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay		 ClinVar PMID:16199547 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 More... NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27633801 PMID:33490854 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24721225 NCBI chr  X:71,239,624...71,255,290
Ensembl chr  X:71,239,624...71,255,146 		JBrowse link
G ZMYND11 zinc finger MYND-type containing 11 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25281490 PMID:25741868 PMID:25741899 PMID:27334371 PMID:28191890 More... NCBI chr10:130,088...254,637
Ensembl chr10:130,088...254,637 		JBrowse link
G ZNF41 zinc finger protein 41 IAGP ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:47,445,178...47,483,222
Ensembl chr  X:47,445,178...47,483,222 		JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC107953.2 novel transcript IAGP ClinVar Annotator: match by term: COLEC10-related condition ClinVar PMID:25741868 PMID:28301481 NCBI chr 8:119,062,942...119,068,782
Ensembl chr 8:119,062,942...119,068,782 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP
EXP		 ClinVar Annotator: match by term: COLEC10-related condition
ClinVar Annotator: match by term: 3MC syndrome 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28301481 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COLEC11 collectin subfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G LOC126860480 BRD4-independent group 4 enhancer GRCh37_chr8:120079461-120080660 IAGP ClinVar Annotator: match by term: COLEC10-related condition ClinVar PMID:25741868 PMID:28301481 NCBI chr 8:119,067,222...119,068,421 JBrowse link
G MASP1 MBL associated serine protease 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
AGAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG2B AFG2 AAA ATPase homolog B IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945 		JBrowse link
G C15orf48 chromosome 15 open reading frame 48 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,430,610...45,433,340
Ensembl chr15:45,430,579...45,448,761 		JBrowse link
G DUOX1 dual oxidase 1 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,129,994...45,165,574
Ensembl chr15:45,129,933...45,165,576 		JBrowse link
G DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G DUOXA1 dual oxidase maturation factor 1 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,117,366...45,129,879
Ensembl chr15:45,117,366...45,129,938 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G GATM glycine amidinotransferase IAGP
EXP		 ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome 3
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G LOC121847946 Sharpr-MPRA regulatory region 12640 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,031,271...45,031,565 JBrowse link
G LOC129390694 MPRA-validated peak2324 silencer IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,980,078...44,980,278 JBrowse link
G LOC130056979 ATAC-STARR-seq lymphoblastoid active region 9348 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,004,136...45,004,185 JBrowse link
G LOC130056980 ATAC-STARR-seq lymphoblastoid silent region 6399 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,022,975...45,023,144 JBrowse link
G LOC130056981 ATAC-STARR-seq lymphoblastoid active region 9349 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,117,969...45,118,168 JBrowse link
G LOC130056982 ATAC-STARR-seq lymphoblastoid silent region 6400 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,166,632...45,167,431 JBrowse link
G LOC130056983 ATAC-STARR-seq lymphoblastoid active region 9350 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,167,632...45,167,721 JBrowse link
G LOC130056984 ATAC-STARR-seq lymphoblastoid silent region 6401 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,187,861...45,187,910 JBrowse link
G LOC130056985 ATAC-STARR-seq lymphoblastoid silent region 6402 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,198,536...45,198,655 JBrowse link
G LOC130056986 ATAC-STARR-seq lymphoblastoid active region 9351 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,198,736...45,199,085 JBrowse link
G LOC130056987 ATAC-STARR-seq lymphoblastoid active region 9352 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,199,646...45,199,805 JBrowse link
G LOC130056988 ATAC-STARR-seq lymphoblastoid silent region 6403 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,200,306...45,200,585 JBrowse link
G LOC130056989 ATAC-STARR-seq lymphoblastoid active region 9354 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,278,950...45,279,119 JBrowse link
G LOC130056990 ATAC-STARR-seq lymphoblastoid active region 9355 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,279,460...45,279,639 JBrowse link
G LOC130056991 ATAC-STARR-seq lymphoblastoid silent region 6406 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:9536098 PMID:11555793 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr15:45,378,343...45,378,672 JBrowse link
G PATL2 PAT1 homolog 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
G SHF Src homology 2 domain containing F IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,167,214...45,201,116
Ensembl chr15:45,167,214...45,201,175 		JBrowse link
G SLC28A2 solute carrier family 28 member 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,252,234...45,277,846
Ensembl chr15:45,252,234...45,277,846 		JBrowse link
G SLC28A2-AS1 SLC28A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,251,581...45,279,222
Ensembl chr15:45,235,930...45,285,889 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,479,606...45,522,755
Ensembl chr15:45,479,606...45,522,755 		JBrowse link
G SORD sorbitol dehydrogenase IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,023,195...45,077,185
Ensembl chr15:45,023,147...45,077,185 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TRH-GTG1-7 tRNA-His (anticodon GTG) 1-7 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,198,606...45,198,677 JBrowse link
G TRH-GTG1-8 tRNA-His (anticodon GTG) 1-8 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,200,413...45,200,484 JBrowse link
G TRH-GTG1-9 tRNA-His (anticodon GTG) 1-9 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,201,151...45,201,222 JBrowse link
G TRIM69 tripartite motif containing 69 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,736,528...44,767,827
Ensembl chr15:44,728,988...44,767,829 		JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide IAGP ClinVar Annotator: match by term: AMED syndrome, digenic OMIM
ClinVar		 PMID:25741868 PMID:33355142 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member IAGP ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6A lysine acetyltransferase 6A IAGP ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A-related condition
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies		 ClinVar
OMIM		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar Annotator: match by term: PPP3CA-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
Bainbridge-Ropers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL3 ASXL transcriptional regulator 3 IAGP ClinVar Annotator: match by term: ASXL3-related condition | ClinVar Annotator: match by term: ASXL3-related disorder | ClinVar Annotator: match by term: Bainbridge-Ropers syndrome
ClinVar Annotator: match by term: ASXL3-related condition | ClinVar Annotator: match by term: Bainbridge-Ropers syndrome		 OMIM
ClinVar		 PMID:23383720 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26416026 More... NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G THOC6 THO complex subunit 6 IAGP ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		 OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
Beck-Fahrner Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TET3 tet methylcytosine dioxygenase 3 IAGP ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3-related condition
ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29531217 PMID:30167849 PMID:31928709 More... NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177 		JBrowse link
Bosch-Boonstra-Schaaf optic atrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARB2A ARB2 cotranscriptional regulator A IAGP ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 5:93,617,725...94,111,699
Ensembl chr 5:93,617,725...94,111,699 		JBrowse link
G KIAA0825 KIAA0825 IAGP ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP
ISS		 ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: NR2F1-related condition
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome | ClinVar Annotator: match by term: NR2F1-related condition
OMIM:615722		 ClinVar
MouseDO
OMIM		 PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611 		JBrowse link
G NR2F1-AS1 NR2F1 regulatory antisense RNA 1 IAGP ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: NR2F1-related condition
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome | ClinVar Annotator: match by term: NR2F1-related condition		 ClinVar PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741879 More... NCBI chr 5:93,409,356...93,585,589
Ensembl chr 5:93,360,779...93,585,649 		JBrowse link
G POU5F2 POU domain class 5, transcription factor 2 IAGP ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 5:93,733,220...93,741,600
Ensembl chr 5:93,733,220...93,741,600 		JBrowse link
brachycephaly, trichomegaly, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS23 ribosomal protein S23 IAGP ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28257692 NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396 		JBrowse link
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 IAGP ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18487195 PMID:23339110 PMID:24358150 More... NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244 		JBrowse link
G CYB561D2 cytochrome b561 family member D2 IAGP ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:29997391 NCBI chr 3:50,365,363...50,368,197
Ensembl chr 3:50,350,845...50,358,460 		JBrowse link
G CYB561D2 cytochrome b561 family member D2 IAGP ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar PMID:25741868 PMID:29997391 PMID:30410802 NCBI chr 3:50,350,862...50,354,069
Ensembl chr 3:50,350,845...50,358,460 		JBrowse link
G HEATR5B HEAT repeat containing 5B IAGP ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar NCBI chr 2:36,980,895...37,084,372
Ensembl chr 2:36,968,383...37,084,372 		JBrowse link
G LOC127898564 CYB561D2-LOC101928965 IAGP ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 3:50,350,862...50,368,197 JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 susceptibility IAGP ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures
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:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 More... NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNMA1-AS1 KCNMA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures
ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr10:76,888,044...76,978,593
Ensembl chr10:76,888,044...76,980,624 		JBrowse link
G LOC130004139 ATAC-STARR-seq lymphoblastoid active region 3609 IAGP ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures ClinVar NCBI chr10:77,008,158...77,008,217 JBrowse link
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129996881 ATAC-STARR-seq lymphoblastoid silent region 17422 IAGP ClinVar Annotator: match by term: PRDM13-related condition ClinVar PMID:28492532 NCBI chr 6:99,613,588...99,613,807 JBrowse link
G PRDM13 PR/SET domain 13 IAGP ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
ClinVar Annotator: match by term: PRDM13-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:34730112 NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OXR1 oxidation resistance 1 IAGP ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar		 PMID:25741868 NCBI chr 8:106,270,178...106,752,694
Ensembl chr 8:106,270,144...106,752,694 		JBrowse link
cerebellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHDC1 AT-hook DNA binding motif containing 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31727539 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCOR BCL6 corepressor IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21735175 PMID:25326635 PMID:25741868 PMID:25886057 PMID:31474318 More... NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CCDST cervical cancer associated DHX9 suppressive transcript IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:152,189,303...152,366,692
Ensembl chr 1:152,165,553...152,445,456 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLG filaggrin IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239 		JBrowse link
G FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FZD3 frizzled class receptor 3 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:28,494,212...28,574,258
Ensembl chr 8:28,494,205...28,574,267 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807 		JBrowse link
G KIAA0586 KIAA0586 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIF4A kinesin family member 4A IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:70,290,104...70,420,886
Ensembl chr  X:70,290,104...70,420,886 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LOC130000962 ATAC-STARR-seq lymphoblastoid silent region 19465 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr 8:106,657,891...106,658,140 JBrowse link
G LOC130001468 ATAC-STARR-seq lymphoblastoid silent region 19733 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:2,622,192...2,622,461 JBrowse link
G LOC130001471 ATAC-STARR-seq lymphoblastoid silent region 19736 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:2,645,714...2,645,763 JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G OPHN1 oligophrenin 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		JBrowse link
G OXR1 oxidation resistance 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr 8:106,270,178...106,752,694
Ensembl chr 8:106,270,144...106,752,694 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028 		JBrowse link
G SEMA6B semaphorin 6B IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,588...4,581,776 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2A tubulin beta 2A class IIa IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957 PMID:25741868 PMID:31474318 NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544 		JBrowse link
G VLDLR very low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar Annotator: match by term: Cerebellar hypoplasia		 ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		JBrowse link
G VLDLR-AS1 VLDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:2,535,652...2,622,373
Ensembl chr 9:2,301,072...2,622,457 		JBrowse link
G WDR37 WD repeat domain 37 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991 		JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 general transcription factor IIIB subunit IAGP ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: BRF1-related condition		 ClinVar
OMIM		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOD1 aconitate decarboxylase 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,948,511...76,958,638
Ensembl chr13:76,948,511...76,958,638 		JBrowse link
G AL139082.1 novel transcript, antisense to NEK3 & NEK5 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,128,895...52,132,723
Ensembl chr13:52,128,891...52,132,723 		JBrowse link
G AL355390.1 novel transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,412,957...74,419,115
Ensembl chr13:74,412,957...74,419,115 		JBrowse link
G AL445209.1 novel transcript, antisense to POU4F1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,596,122...78,599,619
Ensembl chr13:78,596,129...78,599,619 		JBrowse link
G AL445238.1 keratin-associated protein 21-1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,832,361...63,833,053
Ensembl chr13:63,832,361...63,833,531 		JBrowse link
G AL445989.1 keratin-associated protein 21-1-like IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,746,741...63,748,176
Ensembl chr13:63,746,741...63,751,080 		JBrowse link
G AL450447.1 putative UPF0607 protein ENSP00000383144 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,661,376...77,662,626
Ensembl chr13:77,661,376...77,662,626 		JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232 		JBrowse link
G ARL11 ARF like GTPase 11 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,628,507...49,633,872
Ensembl chr13:49,628,507...49,633,872 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G BORA BORA aurora kinase A activator IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,727,923...72,756,196
Ensembl chr13:72,727,749...72,756,198 		JBrowse link
G C13orf42 chromosome 13 open reading frame 42 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,082,119...51,172,388
Ensembl chr13:51,082,119...51,200,252 		JBrowse link
G CAB39L calcium binding protein 39 like IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,308,650...49,444,064
Ensembl chr13:49,308,650...49,444,064 		JBrowse link
G CCDC70 coiled-coil domain containing 70 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,861,969...51,866,232
Ensembl chr13:51,861,969...51,866,232 		JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,247,925...49,293,485
Ensembl chr13:49,247,925...49,293,485 		JBrowse link
G CKAP2 cytoskeleton associated protein 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,455,478...52,476,627
Ensembl chr13:52,455,429...52,476,628 		JBrowse link
G CKAP2-DT CKAP2 divergent transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,454,775...52,455,346
Ensembl chr13:52,454,772...52,455,403 		JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143 		JBrowse link
G CNMD chondromodulin IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,703,264...52,739,820
Ensembl chr13:52,703,264...52,739,820 		JBrowse link
G COMMD6 COMM domain containing 6 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,525,214...75,549,439
Ensembl chr13:75,525,214...75,549,439 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226 		JBrowse link
G DACH1 dachshund family transcription factor 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,437,966...71,867,204
Ensembl chr13:71,437,966...71,867,204 		JBrowse link
G DHRS12 dehydrogenase/reductase 12 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,754,854...51,804,163
Ensembl chr13:51,767,993...51,804,163 		JBrowse link
G DIAPH3 diaphanous related formin 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928 		JBrowse link
G DIAPH3-AS1 DIAPH3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,012,718...60,044,357
Ensembl chr13:60,012,709...60,044,357 		JBrowse link
G DIAPH3-AS2 DIAPH3 antisense RNA 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,144,698...60,153,505
Ensembl chr13:60,144,612...60,153,689 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,752,169...72,781,900
Ensembl chr13:72,752,169...72,782,096 		JBrowse link
G DLEU1 deleted in lymphocytic leukemia 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,082,169...50,528,643
Ensembl chr13:50,081,725...50,906,856 		JBrowse link
G DLEU1-AS1 DLEU1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,520,933...50,527,449
Ensembl chr13:50,519,364...50,843,939 		JBrowse link
G DLEU2 deleted in lymphocytic leukemia 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,982,549...50,125,541
Ensembl chr13:49,956,669...50,126,118 		JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,711,026...50,843,939
Ensembl chr13:50,519,364...50,843,939 		JBrowse link
G DLEU7-AS1 DLEU7 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,807,855...50,849,905
Ensembl chr13:50,081,725...50,906,856 		JBrowse link
G EBPL EBP like IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,660,674...49,691,487
Ensembl chr13:49,660,674...49,691,486 		JBrowse link
G EDNRB endothelin receptor type B IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G EDNRB-AS1 EDNRB antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,908,445 		JBrowse link
G FAM124A family with sequence similarity 124 member A IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,222,398...51,284,239
Ensembl chr13:51,222,334...51,284,239 		JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195 		JBrowse link
G FNDC3A fibronectin type III domain containing 3A IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,975,291...49,209,779
Ensembl chr13:48,975,912...49,209,779 		JBrowse link
G HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,617,525...52,643,773
Ensembl chr13:52,642,431...52,643,773 		JBrowse link
G INTS6 integrator complex subunit 6 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,334,405...51,453,036
Ensembl chr13:51,354,077...51,454,264 		JBrowse link
G INTS6-AS1 INTS6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,453,345...51,454,716
Ensembl chr13:51,452,364...51,554,678 		JBrowse link
G ITM2B integral membrane protein 2B IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G KCNRG potassium channel regulator IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,015,444...50,020,922
Ensembl chr13:50,015,254...50,020,922 		JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,880,175...76,886,405
Ensembl chr13:76,880,175...76,886,405 		JBrowse link
G KLF12 KLF transcription factor 12 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,686,089...74,306,045
Ensembl chr13:73,686,089...74,134,404 		JBrowse link
G KLF5 KLF transcription factor 5 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541 		JBrowse link
G KLHL1 kelch like family member 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,700,597...70,108,452
Ensembl chr13:69,700,594...70,108,493 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682 		JBrowse link
G LINC00331 long intergenic non-protein coding RNA 331 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,787,319...78,840,050
Ensembl chr13:78,786,272...78,840,058 		JBrowse link
G LINC00333 long intergenic non-protein coding RNA 333 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:84,140,602...84,606,768
Ensembl chr13:84,562,364...84,563,236 		JBrowse link
G LINC00345 long intergenic non-protein coding RNA 345 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,482,482...52,600,607
Ensembl chr13:52,482,804...52,600,613 		JBrowse link
G LINC00347 long intergenic non-protein coding RNA 347 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,552,843...74,557,120
Ensembl chr13:74,552,503...74,565,445 		JBrowse link
G LINC00348 long intergenic non-protein coding RNA 348 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,015,141...71,168,417
Ensembl chr13:71,015,042...71,168,417 		JBrowse link
G LINC00351 long intergenic non-protein coding RNA 351 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,363,603...85,544,662
Ensembl chr13:85,363,601...85,544,570 		JBrowse link
G LINC00355 long intergenic non-protein coding RNA 355 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,986,371...64,076,011
Ensembl chr13:63,851,197...64,076,044 		JBrowse link
G LINC00358 long intergenic non-protein coding RNA 358 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,003,525...62,029,548
Ensembl chr13:61,960,638...62,045,866 		JBrowse link
G LINC00364 long intergenic non-protein coding RNA 364 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:67,372,387...67,379,994
Ensembl chr13:67,326,177...67,379,994 		JBrowse link
G LINC00374 long intergenic non-protein coding RNA 374 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,211,697...58,233,117
Ensembl chr13:58,211,697...58,233,117 		JBrowse link
G LINC00375 long intergenic non-protein coding RNA 375 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,065,087...85,148,057
Ensembl chr13:85,046,001...85,205,426 		JBrowse link
G LINC00376 long intergenic non-protein coding RNA 376 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,183,101...63,328,094
Ensembl chr13:63,183,033...63,328,164 		JBrowse link
G LINC00377 long intergenic non-protein coding RNA 377 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,018,391...81,044,442
Ensembl chr13:81,018,176...81,044,691 		JBrowse link
G LINC00378 long intergenic non-protein coding RNA 378 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,672,955...60,695,806
Ensembl chr13:60,618,983...61,176,809 		JBrowse link
G LINC00381 long intergenic non-protein coding RNA 381 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,419,173...74,435,159
Ensembl chr13:74,231,401...74,555,515 		JBrowse link
G LINC00382 long intergenic non-protein coding RNA 382 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,872,586...79,918,036
Ensembl chr13:79,872,581...79,918,042 		JBrowse link
G LINC00383 long intergenic non-protein coding RNA 383 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,222,346...69,322,101
Ensembl chr13:69,221,866...69,322,190 		JBrowse link
G LINC00392 long intergenic non-protein coding RNA 392 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,564,244...73,587,879
Ensembl chr13:73,564,244...73,588,070 		JBrowse link
G LINC00393 long intergenic non-protein coding RNA 393 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,545,901...73,661,903
Ensembl chr13:73,412,982...73,662,210 		JBrowse link
G LINC00395 long intergenic non-protein coding RNA 395 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,667,682...63,738,018
Ensembl chr13:63,667,677...63,742,822 		JBrowse link
G LINC00402 long intergenic non-protein coding RNA 402 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,231,444...74,259,976
Ensembl chr13:74,231,401...74,555,515 		JBrowse link
G LINC00402 long intergenic non-protein coding RNA 402 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,288,070...74,408,803
Ensembl chr13:74,231,401...74,555,515 		JBrowse link
G LINC00430 long intergenic non-protein coding RNA 430 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:86,909,601...86,936,807
Ensembl chr13:86,909,524...86,937,108 		JBrowse link
G LINC00434 long intergenic non-protein coding RNA 434 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,214,347...60,268,104
Ensembl chr13:60,205,296...60,268,106 		JBrowse link
G LINC00446 long intergenic non-protein coding RNA 446 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,012,883...78,053,595
Ensembl chr13:77,997,898...78,053,604 		JBrowse link
G LINC00448 long intergenic non-protein coding RNA 448 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,672,285...62,807,359
Ensembl chr13:62,672,285...62,796,726 		JBrowse link
G LINC00458 long intergenic non-protein coding RNA 458 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,124,324...54,132,871
Ensembl chr13:53,950,255...54,270,397 		JBrowse link
G LINC00459 long intergenic non-protein coding RNA 459 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,323,657...62,328,847
Ensembl chr13:62,323,657...62,328,833 		JBrowse link
G LINC00462 long intergenic non-protein coding RNA 462 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,576,974...48,580,901
Ensembl chr13:48,576,969...48,590,598 		JBrowse link
G LINC00550 long intergenic non-protein coding RNA 550 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:68,861,284...68,885,325
Ensembl chr13:68,805,703...68,885,346 		JBrowse link
G LINC00558 long intergenic non-protein coding RNA 558 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,815,419...53,876,119
Ensembl chr13:53,815,419...53,939,960 		JBrowse link
G LINC00561 long intergenic non-protein coding RNA 561 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,932,398...75,935,132
Ensembl chr13:75,932,395...75,935,132 		JBrowse link
G LINC00562 long intergenic non-protein coding RNA 562 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,930,153...47,932,622
Ensembl chr13:47,930,153...47,932,622 		JBrowse link
G LINC00564 long intergenic non-protein coding RNA 564 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,225,865...81,226,983
Ensembl chr13:81,220,629...81,226,993 		JBrowse link
G LINC01038 long intergenic non-protein coding RNA 1038 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,804,386...79,805,682
Ensembl chr13:79,804,309...79,805,689 		JBrowse link
G LINC01052 long intergenic non-protein coding RNA 1052 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,866,047...65,878,219
Ensembl chr13:65,866,053...65,965,825 		JBrowse link
G LINC01065 long intergenic non-protein coding RNA 1065 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,131,746...53,151,900
Ensembl chr13:53,099,397...53,151,914 		JBrowse link
G LINC01068 long intergenic non-protein coding RNA 1068 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,566,727...79,571,446
Ensembl chr13:79,566,598...79,571,451 		JBrowse link
G LINC01069 long intergenic non-protein coding RNA 1069 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,979,766...77,994,773
Ensembl chr13:77,972,803...77,997,889 		JBrowse link
G LINC01074 long intergenic non-protein coding RNA 1074 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,321,305...62,322,398
Ensembl chr13:62,321,305...62,322,398 		JBrowse link
G LINC01075 long intergenic non-protein coding RNA 1075 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,212,282...62,249,951
Ensembl chr13:62,212,307...62,249,947 		JBrowse link
G LINC01077 long intergenic non-protein coding RNA 1077 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,567,598...48,590,598
Ensembl chr13:48,567,238...48,573,317 		JBrowse link
G LINC01078 long intergenic non-protein coding RNA 1078 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,240,588...75,252,012
Ensembl chr13:75,250,480...75,252,012 		JBrowse link
G LINC01080 long intergenic non-protein coding RNA 1080 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,011,077...80,026,663
Ensembl chr13:80,011,077...80,159,070 		JBrowse link
G LINC01442 long intergenic non-protein coding RNA 1442 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,916,755...60,945,955
Ensembl chr13:60,916,981...60,945,955 		JBrowse link
G LINC02333 long intergenic non-protein coding RNA 2333 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,334,295...52,341,883
Ensembl chr13:52,333,991...52,341,896 		JBrowse link
G LINC02335 long intergenic non-protein coding RNA 2335 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:55,053,807...55,182,736
Ensembl chr13:55,062,945...55,161,490
Ensembl chr13:55,062,945...55,161,490 		JBrowse link
G LINC02338 long intergenic non-protein coding RNA 2338 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,165,827...58,209,483
Ensembl chr13:58,165,778...58,209,483 		JBrowse link
G LINC02339 long intergenic non-protein coding RNA 2339 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,424,689...61,427,946
Ensembl chr13:61,424,689...61,427,946 		JBrowse link
G LMO7 LIM domain 7 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,620,434...75,859,870
Ensembl chr13:75,620,434...75,859,870 		JBrowse link
G LMO7-AS1 LMO7 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,604,700...75,635,994
Ensembl chr13:75,604,700...75,636,023 		JBrowse link
G LMO7DN LMO7 downstream neighbor IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,871,038...75,883,813
Ensembl chr13:75,870,573...75,883,811 		JBrowse link
G LMO7DN-IT1 LMO7DN intronic transcript 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,876,886...75,881,127
Ensembl chr13:75,870,573...75,883,811 		JBrowse link
G LOC105370203 uncharacterized LOC105370203 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,235,513...49,247,840 JBrowse link
G LOC105370268 lncRNA-ACOD1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G LOC107457599 meiotic recombination hotspot P IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,690,561...60,694,062 JBrowse link
G LOC107882127 EDNRB upstream promoter region IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,975,613...77,976,074 JBrowse link
G LOC107882129 EDNRB proximal promoter region IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,918,760...77,919,832 JBrowse link
G LOC109461478 ATXN8 opposite strand (non-protein coding) repeat instability region IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,139,352...70,139,429 JBrowse link
G LOC110120827 VISTA enhancer hs126 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,769,477...70,770,782 JBrowse link
G LOC110120828 VISTA enhancer hs129 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,200,716...71,201,236 JBrowse link
G LOC110120829 VISTA enhancer hs131 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,197,133...72,199,738 JBrowse link
G LOC110120830 VISTA enhancer hs135 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,574,916...72,575,890 JBrowse link
G LOC110120831 VISTA enhancer hs137 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,726,717...71,728,802 JBrowse link
G LOC110120832 VISTA enhancer hs138 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,851,655...71,854,203 JBrowse link
G LOC110120833 VISTA enhancer hs141 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,426,945...72,428,915 JBrowse link
G LOC110120834 VISTA enhancer hs142 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,507,309...72,509,616 JBrowse link
G LOC110120843 VISTA enhancer hs188 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,771,848...71,774,098 JBrowse link
G LOC110120891 VISTA enhancer hs540 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,783,961...70,785,375 JBrowse link
G LOC110120897 VISTA enhancer hs575 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:67,854,985...67,856,394 JBrowse link
G LOC110120909 VISTA enhancer hs619 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,759,384...71,760,856 JBrowse link
G LOC110120945 VISTA enhancer hs881 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,035,667...66,036,616 JBrowse link
G LOC110120946 VISTA enhancer hs882 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:70,958,905...70,960,063 JBrowse link
G LOC110120950 VISTA enhancer hs915 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,401,880...78,403,203 JBrowse link
G LOC110121360 VISTA enhancer hs1394 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,831,993...77,833,579 JBrowse link
G LOC110121375 VISTA enhancer hs1471 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,658,111...79,660,495 JBrowse link
G LOC111365190 HNF1 motif-containing MPRA enhancer 52 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,227,924...74,228,068 JBrowse link
G LOC112163662 MED14-independent group 3 enhancer GRCh37_chr13:48640162-48641361 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,066,026...48,067,225 JBrowse link
G LOC112163663 Sharpr-MPRA regulatory region 2352 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,104,673...52,104,967 JBrowse link
G LOC112163664 Sharpr-MPRA regulatory region 8029 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,850,374...52,850,668 JBrowse link
G LOC112163665 Sharpr-MPRA regulatory region 4317 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,584,335...60,584,629 JBrowse link
G LOC112163666 Sharpr-MPRA regulatory region 1301 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,625,916...63,626,210 JBrowse link
G LOC112163667 Sharpr-MPRA regulatory region 14942 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:68,057,157...68,057,451 JBrowse link
G LOC112163668 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:73663997-73665196 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,089,540...73,091,202 JBrowse link
G LOC112163669 Sharpr-MPRA regulatory region 11269 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,187,632...74,187,926 JBrowse link
G LOC112163670 Sharpr-MPRA regulatory region 2285 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,287,712...74,288,006 JBrowse link
G LOC112163671 Sharpr-MPRA regulatory region 1150 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,409,474...77,409,768 JBrowse link
G LOC112163672 Sharpr-MPRA regulatory region 2923 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:84,399,374...84,399,668 JBrowse link
G LOC113939939 Sharpr-MPRA regulatory region 13963 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,301,133...49,301,427 JBrowse link
G LOC121466733 Sharpr-MPRA regulatory region 15313 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,569,894...52,570,188 JBrowse link
G LOC121468000 Sharpr-MPRA regulatory region 8019 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,848,734...52,849,028 JBrowse link
G LOC121468001 Sharpr-MPRA regulatory region 7103 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,277,774...85,278,068 JBrowse link
G LOC121838575 Sharpr-MPRA regulatory region 8262 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,636,073...50,636,367 JBrowse link
G LOC121838576 Sharpr-MPRA regulatory region 10224 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,087,833...52,088,127 JBrowse link
G LOC121838577 Sharpr-MPRA regulatory region 11905 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,165,455...60,165,749 JBrowse link
G LOC121838578 Sharpr-MPRA regulatory region 561 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,261,635...60,261,929 JBrowse link
G LOC121838579 Sharpr-MPRA regulatory region 6918 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,871,677...64,871,971 JBrowse link
G LOC121838580 Sharpr-MPRA regulatory region 9192 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,152,134...80,152,428 JBrowse link
G LOC124885095 Sharpr-MPRA regulatory region 5997 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,094,313...48,094,607 JBrowse link
G LOC124885096 Sharpr-MPRA regulatory region 1366 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,199,453...48,199,747 JBrowse link
G LOC124885097 Sharpr-MPRA regulatory region 13035 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,586,633...48,586,927 JBrowse link
G LOC124885098 Sharpr-MPRA regulatory region 6847 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,303,673...49,303,967 JBrowse link
G LOC124900138 Sharpr-MPRA regulatory region 6161 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,633,733...49,634,027 JBrowse link
G LOC124900139 Sharpr-MPRA regulatory region 10165 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,746,153...49,746,447 JBrowse link
G LOC124900140 Sharpr-MPRA regulatory region 13323 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,976,693...49,976,987 JBrowse link
G LOC124900141 Sharpr-MPRA regulatory region 84 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,081,313...50,081,690 JBrowse link
G LOC124900142 Sharpr-MPRA regulatory region 6827 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,366,833...50,367,127 JBrowse link
G LOC124900143 Sharpr-MPRA regulatory region 8165 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,255,593...51,255,887 JBrowse link
G LOC124900144 Sharpr-MPRA regulatory region 8155 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,303,193...51,303,487 JBrowse link
G LOC124900146 Sharpr-MPRA regulatory region 2859 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,672,193...51,672,487 JBrowse link
G LOC124900147 Sharpr-MPRA regulatory region 15635 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,996,033...51,996,327 JBrowse link
G LOC124900148 Sharpr-MPRA regulatory region 2809 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,161,294...52,161,588 JBrowse link
G LOC124900149 Sharpr-MPRA regulatory region 6127 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,782,534...53,782,828 JBrowse link
G LOC124900150 Sharpr-MPRA regulatory region 1645 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:55,517,374...55,517,668 JBrowse link
G LOC124900151 Sharpr-MPRA regulatory region 559 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:55,661,414...55,661,708 JBrowse link
G LOC124900152 Sharpr-MPRA regulatory region 3887 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,152,655...57,152,949 JBrowse link
G LOC124900153 Sharpr-MPRA regulatory region 8499 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,492,435...57,492,729 JBrowse link
G LOC124900154 Sharpr-MPRA regulatory region 8361 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,751,015...59,751,309 JBrowse link
G LOC124900155 Sharpr-MPRA regulatory region 6777 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,765,955...60,766,249 JBrowse link
G LOC124900156 Sharpr-MPRA regulatory region 11307 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,212,296...62,212,590 JBrowse link
G LOC124900157 Sharpr-MPRA regulatory region 7190 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,054,356...64,054,650 JBrowse link
G LOC124900158 Sharpr-MPRA regulatory region 870 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,758,577...64,758,871 JBrowse link
G LOC124900159 Sharpr-MPRA regulatory region 7062 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,869,517...64,869,811 JBrowse link
G LOC124900160 Sharpr-MPRA regulatory region 7593 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,638,477...65,638,771 JBrowse link
G LOC124900161 Sharpr-MPRA regulatory region 12707 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,568,077...66,568,371 JBrowse link
G LOC124909500 Sharpr-MPRA regulatory region 9294 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:67,754,817...67,755,111 JBrowse link
G LOC124909501 Sharpr-MPRA regulatory region 6884 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,621,137...71,621,431 JBrowse link
G LOC124909502 Sharpr-MPRA regulatory region 11619 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,349,653...75,349,947 JBrowse link
G LOC124909503 Sharpr-MPRA regulatory region 14274 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,547,934...80,548,228 JBrowse link
G LOC124909504 Sharpr-MPRA regulatory region 7086 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,241,014...85,241,308 JBrowse link
G LOC124909505 Sharpr-MPRA regulatory region 1723 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,864,974...85,865,268 JBrowse link
G LOC126861767 BRD4-independent group 4 enhancer GRCh37_chr13:47676673-47677872 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,102,538...47,103,737 JBrowse link
G LOC126861768 BRD4-independent group 4 enhancer GRCh37_chr13:48095470-48096669 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,521,335...47,522,534 JBrowse link
G LOC126861769 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48431764-48432963 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,857,629...47,858,828 JBrowse link
G LOC126861770 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48575750-48576949 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,001,614...48,002,813 JBrowse link
G LOC126861771 MED14-independent group 3 enhancer GRCh37_chr13:48646101-48647300 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,071,965...48,073,164 JBrowse link
G LOC126861772 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49323510-49324709 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,749,374...48,750,573 JBrowse link
G LOC126861773 BRD4-independent group 4 enhancer GRCh37_chr13:49632061-49633260 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,057,925...49,059,124 JBrowse link
G LOC126861774 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49888093-49889292 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,313,957...49,315,156 JBrowse link
G LOC126861775 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:50818353-50819552 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,244,217...50,245,416 JBrowse link
G LOC126861776 MED14-independent group 3 enhancer GRCh37_chr13:51102968-51104167 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,528,832...50,530,349 JBrowse link
G LOC126861777 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51684668-51685867 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,110,532...51,111,731 JBrowse link
G LOC126861778 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51686552-51687751 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,112,416...51,113,615 JBrowse link
G LOC126861779 MED14-independent group 3 enhancer GRCh37_chr13:52052769-52053968 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,478,633...51,479,832 JBrowse link
G LOC126861780 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:52435707-52436906 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,861,571...51,862,770 JBrowse link
G LOC126861781 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52501865-52503064 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,927,729...51,928,928 JBrowse link
G LOC126861782 BRD4-independent group 4 enhancer GRCh37_chr13:52706487-52707686 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,132,351...52,133,550 JBrowse link
G LOC126861783 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52922389-52923588 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,348,254...52,349,453 JBrowse link
G LOC126861784 MED14-independent group 3 enhancer GRCh37_chr13:55060370-55061569 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,486,235...54,487,434 JBrowse link
G LOC126861785 MED14-independent group 3 enhancer GRCh37_chr13:57137111-57138310 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,562,977...56,564,176 JBrowse link
G LOC126861786 MED14-independent group 3 enhancer GRCh37_chr13:62131441-62132640 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,557,308...61,558,507 JBrowse link
G LOC126861787 BRD4-independent group 4 enhancer GRCh37_chr13:62241013-62242212 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,666,880...61,668,079 JBrowse link
G LOC126861788 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:63216915-63218114 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,642,782...62,643,981 JBrowse link
G LOC126861789 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:65360601-65361800 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:64,786,469...64,787,668 JBrowse link
G LOC126861790 MED14-independent group 3 enhancer GRCh37_chr13:66251524-66252723 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,677,392...65,678,591 JBrowse link
G LOC126861791 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:66487207-66488406 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,913,075...65,914,274 JBrowse link
G LOC126861792 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:67507550-67508749 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,933,418...66,934,617 JBrowse link
G LOC126861793 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:68764645-68765844 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:68,190,513...68,191,712 JBrowse link
G LOC126861794 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:69462586-69463785 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:68,888,454...68,889,653 JBrowse link
G LOC126861795 MED14-independent group 3 enhancer GRCh37_chr13:70544083-70545282 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,969,951...69,971,150 JBrowse link
G LOC126861796 BRD4-independent group 4 enhancer GRCh37_chr13:72741998-72743197 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,167,860...72,169,059 JBrowse link
G LOC126861797 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:72744178-72745377 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,170,040...72,171,239 JBrowse link
G LOC126861798 BRD4-independent group 4 enhancer GRCh37_chr13:73797915-73799114 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,223,778...73,224,977 JBrowse link
G LOC126861799 BRD4-independent group 4 enhancer GRCh37_chr13:74289066-74290265 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,714,929...73,716,128 JBrowse link
G LOC126861800 BRD4-independent group 4 enhancer GRCh37_chr13:75709394-75710593 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,135,257...75,136,456 JBrowse link
G LOC126861801 BRD4-independent group 4 enhancer GRCh37_chr13:75899800-75900999 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,325,664...75,326,863 JBrowse link
G LOC126861802 MED14-independent group 3 enhancer GRCh37_chr13:76279181-76280380 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,705,045...75,706,244 JBrowse link
G LOC126861803 MED14-independent group 3 enhancer GRCh37_chr13:77491455-77492654 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,917,185...76,918,520 JBrowse link
G LOC126861804 BRD4-independent group 4 enhancer GRCh37_chr13:77566521-77567720 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,992,386...76,993,585 JBrowse link
G LOC126861805 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:78675991-78677190 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,101,856...78,103,055 JBrowse link
G LOC126861806 MED14-independent group 3 enhancer GRCh37_chr13:80134686-80135885 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,560,551...79,561,750 JBrowse link
G LOC126861807 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:80510429-80511628 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,936,294...79,937,493 JBrowse link
G LOC126861808 MED14-independent group 3 enhancer GRCh37_chr13:80766325-80767524 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,191,999...80,193,389 JBrowse link
G LOC126861809 BRD4-independent group 4 enhancer GRCh37_chr13:84091305-84092504 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:83,517,170...83,518,369 JBrowse link
G LOC126861810 BRD4-independent group 4 enhancer GRCh37_chr13:85258624-85259823 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:84,684,489...84,685,688 JBrowse link
G LOC126861811 MED14-independent group 3 enhancer GRCh37_chr13:86238925-86240124 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,664,790...85,665,989 JBrowse link
G LOC126861812 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:87694909-87696108 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:87,042,654...87,043,853 JBrowse link
G LOC127898562 uncharacterized LOC127898562 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,326,905...77,326,988 JBrowse link
G LOC129390601 MPRA-validated peak2077 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,677,164...69,677,364 JBrowse link
G LOC129390602 MPRA-validated peak2084 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,791,940...80,792,140 JBrowse link
G LOC129390603 MPRA-validated peak2085 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,199,621...81,199,821 JBrowse link
G LOC129390604 MPRA-validated peak2087 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,252,461...81,252,661 JBrowse link
G LOC129390605 MPRA-validated peak2090 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:82,415,161...82,415,361 JBrowse link
G LOC129390606 MPRA-validated peak2091 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:82,565,281...82,565,481 JBrowse link
G LOC129390607 MPRA-validated peak2098 silencer IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:87,336,221...87,336,421 JBrowse link
G LOC130009742 ATAC-STARR-seq lymphoblastoid silent region 5329 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:46,992,483...46,992,542 JBrowse link
G LOC130009743 ATAC-STARR-seq lymphoblastoid active region 7715 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,036,753...47,036,852 JBrowse link
G LOC130009744 ATAC-STARR-seq lymphoblastoid active region 7716 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,100,726...47,100,775 JBrowse link
G LOC130009745 ATAC-STARR-seq lymphoblastoid active region 7717 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,000,908...48,000,957 JBrowse link
G LOC130009746 ATAC-STARR-seq lymphoblastoid active region 7718 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,000,978...48,001,027 JBrowse link
G LOC130009747 ATAC-STARR-seq lymphoblastoid active region 7719 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,001,048...48,001,237 JBrowse link
G LOC130009748 ATAC-STARR-seq lymphoblastoid silent region 5330 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,001,358...48,001,467 JBrowse link
G LOC130009749 ATAC-STARR-seq lymphoblastoid active region 7723 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,156,615...48,156,734 JBrowse link
G LOC130009750 ATAC-STARR-seq lymphoblastoid active region 7724 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,186,386...48,186,615 JBrowse link
G LOC130009751 ATAC-STARR-seq lymphoblastoid silent region 5331 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,233,082...48,233,441 JBrowse link
G LOC130009752 ATAC-STARR-seq lymphoblastoid silent region 5332 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,233,452...48,233,661 JBrowse link
G LOC130009753 ATAC-STARR-seq lymphoblastoid active region 7725 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,287,247...48,287,306 JBrowse link
G LOC130009754 ATAC-STARR-seq lymphoblastoid active region 7726 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,304,403...48,304,452 JBrowse link
G LOC130009755 ATAC-STARR-seq lymphoblastoid active region 7727 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,304,693...48,304,762 JBrowse link
G LOC130009756 ATAC-STARR-seq lymphoblastoid active region 7728 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,489,080...48,489,219 JBrowse link
G LOC130009757 ATAC-STARR-seq lymphoblastoid active region 7729 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,489,230...48,489,279 JBrowse link
G LOC130009758 ATAC-STARR-seq lymphoblastoid active region 7730 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,493,481...48,493,560 JBrowse link
G LOC130009759 ATAC-STARR-seq lymphoblastoid silent region 5334 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,500,763...48,500,922 JBrowse link
G LOC130009760 ATAC-STARR-seq lymphoblastoid active region 7731 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,505,507...48,505,776 JBrowse link
G LOC130009761 ATAC-STARR-seq lymphoblastoid active region 7732 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,531,396...48,531,565 JBrowse link
G LOC130009762 ATAC-STARR-seq lymphoblastoid active region 7733 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,532,456...48,532,695 JBrowse link
G LOC130009763 ATAC-STARR-seq lymphoblastoid silent region 5335 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,532,736...48,533,135 JBrowse link
G LOC130009764 ATAC-STARR-seq lymphoblastoid silent region 5336 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,533,246...48,533,295 JBrowse link
G LOC130009765 ATAC-STARR-seq lymphoblastoid active region 7734 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,561,596...48,561,695 JBrowse link
G LOC130009766 ATAC-STARR-seq lymphoblastoid active region 7735 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,579,484...48,579,553 JBrowse link
G LOC130009767 ATAC-STARR-seq lymphoblastoid active region 7736 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,579,574...48,579,623 JBrowse link
G LOC130009768 ATAC-STARR-seq lymphoblastoid active region 7737 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,884,402...48,884,641 JBrowse link
G LOC130009769 ATAC-STARR-seq lymphoblastoid active region 7738 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,961,540...48,961,709 JBrowse link
G LOC130009770 ATAC-STARR-seq lymphoblastoid active region 7739 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,975,117...48,975,176 JBrowse link
G LOC130009771 ATAC-STARR-seq lymphoblastoid active region 7741 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,976,847...48,976,946 JBrowse link
G LOC130009772 ATAC-STARR-seq lymphoblastoid active region 7742 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,082,622...49,082,871 JBrowse link
G LOC130009773 ATAC-STARR-seq lymphoblastoid active region 7743 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,083,062...49,083,121 JBrowse link
G LOC130009774 ATAC-STARR-seq lymphoblastoid active region 7744 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,083,332...49,083,421 JBrowse link
G LOC130009775 ATAC-STARR-seq lymphoblastoid silent region 5340 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,220,291...49,220,370 JBrowse link
G LOC130009776 ATAC-STARR-seq lymphoblastoid active region 7746 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,443,442...49,443,511 JBrowse link
G LOC130009777 ATAC-STARR-seq lymphoblastoid active region 7748 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,495,755...49,495,994 JBrowse link
G LOC130009778 ATAC-STARR-seq lymphoblastoid silent region 5342 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,496,015...49,496,294 JBrowse link
G LOC130009779 ATAC-STARR-seq lymphoblastoid active region 7749 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,496,485...49,496,534 JBrowse link
G LOC130009780 ATAC-STARR-seq lymphoblastoid silent region 5343 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,585,082...49,585,791 JBrowse link
G LOC130009781 ATAC-STARR-seq lymphoblastoid active region 7750 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,606,886...49,607,105 JBrowse link
G LOC130009782 ATAC-STARR-seq lymphoblastoid active region 7752 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,628,759...49,628,808 JBrowse link
G LOC130009783 ATAC-STARR-seq lymphoblastoid active region 7753 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,635,806...49,635,855 JBrowse link
G LOC130009784 ATAC-STARR-seq lymphoblastoid silent region 5346 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,759,608...49,759,677 JBrowse link
G LOC130009785 ATAC-STARR-seq lymphoblastoid active region 7755 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,936,151...49,936,400 JBrowse link
G LOC130009786 ATAC-STARR-seq lymphoblastoid silent region 5349 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,936,441...49,936,690 JBrowse link
G LOC130009787 ATAC-STARR-seq lymphoblastoid active region 7756 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,937,271...49,937,320 JBrowse link
G LOC130009788 ATAC-STARR-seq lymphoblastoid silent region 5350 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,996,009...49,996,058 JBrowse link
G LOC130009789 ATAC-STARR-seq lymphoblastoid active region 7757 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,996,339...49,996,468 JBrowse link
G LOC130009790 ATAC-STARR-seq lymphoblastoid silent region 5351 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,996,649...49,996,778 JBrowse link
G LOC130009791 ATAC-STARR-seq lymphoblastoid active region 7758 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,027,127...50,027,216 JBrowse link
G LOC130009792 ATAC-STARR-seq lymphoblastoid active region 7759 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,080,621...50,080,680 JBrowse link
G LOC130009793 ATAC-STARR-seq lymphoblastoid silent region 5353 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,082,091...50,082,140 JBrowse link
G LOC130009794 ATAC-STARR-seq lymphoblastoid silent region 5354 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,124,004...50,124,513 JBrowse link
G LOC130009795 ATAC-STARR-seq lymphoblastoid silent region 5355 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,124,594...50,125,103 JBrowse link
G LOC130009796 ATAC-STARR-seq lymphoblastoid silent region 5356 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,125,424...50,125,633 JBrowse link
G LOC130009797 ATAC-STARR-seq lymphoblastoid silent region 5358 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,130,335...50,130,434 JBrowse link
G LOC130009798 ATAC-STARR-seq lymphoblastoid silent region 5359 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,131,211...50,131,290 JBrowse link
G LOC130009799 ATAC-STARR-seq lymphoblastoid active region 7760 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,153,018...50,153,067 JBrowse link
G LOC130009800 ATAC-STARR-seq lymphoblastoid silent region 5360 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,594,477...50,594,676 JBrowse link
G LOC130009801 ATAC-STARR-seq lymphoblastoid active region 7761 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,594,777...50,594,976 JBrowse link
G LOC130009802 ATAC-STARR-seq lymphoblastoid active region 7762 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,635,477...50,635,676 JBrowse link
G LOC130009803 ATAC-STARR-seq lymphoblastoid active region 7763 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,731,487...50,731,686 JBrowse link
G LOC130009804 ATAC-STARR-seq lymphoblastoid active region 7764 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,756,233...50,756,282 JBrowse link
G LOC130009805 ATAC-STARR-seq lymphoblastoid active region 7765 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,756,313...50,756,362 JBrowse link
G LOC130009806 ATAC-STARR-seq lymphoblastoid active region 7766 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,756,393...50,756,502 JBrowse link
G LOC130009807 ATAC-STARR-seq lymphoblastoid active region 7767 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,801,246...50,801,295 JBrowse link
G LOC130009808 ATAC-STARR-seq lymphoblastoid active region 7768 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,801,366...50,801,465 JBrowse link
G LOC130009809 ATAC-STARR-seq lymphoblastoid silent region 5361 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,909,606...50,910,035 JBrowse link
G LOC130009810 ATAC-STARR-seq lymphoblastoid silent region 5362 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,910,046...50,910,285 JBrowse link
G LOC130009811 ATAC-STARR-seq lymphoblastoid silent region 5363 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,910,496...50,910,545 JBrowse link
G LOC130009812 ATAC-STARR-seq lymphoblastoid active region 7770 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,914,903...50,914,992 JBrowse link
G LOC130009813 ATAC-STARR-seq lymphoblastoid active region 7771 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,917,191...50,917,340 JBrowse link
G LOC130009814 ATAC-STARR-seq lymphoblastoid silent region 5364 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,125,838...51,125,887 JBrowse link
G LOC130009815 ATAC-STARR-seq lymphoblastoid active region 7772 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,331,304...51,331,433 JBrowse link
G LOC130009816 ATAC-STARR-seq lymphoblastoid silent region 5367 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,451,572...51,451,621 JBrowse link
G LOC130009817 ATAC-STARR-seq lymphoblastoid silent region 5368 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,451,682...51,451,841 JBrowse link
G LOC130009818 ATAC-STARR-seq lymphoblastoid silent region 5369 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,451,912...51,452,051 JBrowse link
G LOC130009819 ATAC-STARR-seq lymphoblastoid silent region 5370 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,452,062...51,452,181 JBrowse link
G LOC130009820 ATAC-STARR-seq lymphoblastoid silent region 5371 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,452,192...51,452,461 JBrowse link
G LOC130009821 ATAC-STARR-seq lymphoblastoid silent region 5372 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,452,702...51,452,961 JBrowse link
G LOC130009822 ATAC-STARR-seq lymphoblastoid active region 7773 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,453,022...51,453,071 JBrowse link
G LOC130009823 ATAC-STARR-seq lymphoblastoid silent region 5373 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,453,192...51,453,391 JBrowse link
G LOC130009824 ATAC-STARR-seq lymphoblastoid silent region 5374 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,453,482...51,453,801 JBrowse link
G LOC130009825 ATAC-STARR-seq lymphoblastoid active region 7774 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,502,500...51,502,649 JBrowse link
G LOC130009826 ATAC-STARR-seq lymphoblastoid silent region 5375 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,584,313...51,584,682 JBrowse link
G LOC130009827 ATAC-STARR-seq lymphoblastoid active region 7776 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,614,386...51,614,445 JBrowse link
G LOC130009828 ATAC-STARR-seq lymphoblastoid active region 7777 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,614,476...51,614,565 JBrowse link
G LOC130009829 ATAC-STARR-seq lymphoblastoid active region 7778 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,764,521...51,764,840 JBrowse link
G LOC130009830 ATAC-STARR-seq lymphoblastoid silent region 5376 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,781,498...51,781,547 JBrowse link
G LOC130009831 ATAC-STARR-seq lymphoblastoid active region 7779 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,793,788...51,794,147 JBrowse link
G LOC130009832 ATAC-STARR-seq lymphoblastoid active region 7780 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,797,652...51,797,731 JBrowse link
G LOC130009833 ATAC-STARR-seq lymphoblastoid active region 7781 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,802,479...51,802,528 JBrowse link
G LOC130009834 ATAC-STARR-seq lymphoblastoid silent region 5377 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,803,724...51,804,363 JBrowse link
G LOC130009835 ATAC-STARR-seq lymphoblastoid active region 7782 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,804,914...51,805,043 JBrowse link
G LOC130009836 ATAC-STARR-seq lymphoblastoid active region 7783 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,945,371...51,945,440 JBrowse link
G LOC130009837 ATAC-STARR-seq lymphoblastoid active region 7784 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,945,501...51,945,600 JBrowse link
G LOC130009838 ATAC-STARR-seq lymphoblastoid silent region 5378 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,011,657...52,011,996 JBrowse link
G LOC130009839 ATAC-STARR-seq lymphoblastoid silent region 5379 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,047...52,012,156 JBrowse link
G LOC130009840 ATAC-STARR-seq lymphoblastoid silent region 5380 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,167...52,012,266 JBrowse link
G LOC130009841 ATAC-STARR-seq lymphoblastoid active region 7785 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,387...52,012,516 JBrowse link
G LOC130009842 ATAC-STARR-seq lymphoblastoid active region 7786 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,012,567...52,012,656 JBrowse link
G LOC130009843 ATAC-STARR-seq lymphoblastoid silent region 5381 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,159,284...52,159,393 JBrowse link
G LOC130009844 ATAC-STARR-seq lymphoblastoid silent region 5382 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,159,474...52,159,533 JBrowse link
G LOC130009845 ATAC-STARR-seq lymphoblastoid active region 7787 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,194,357...52,194,626 JBrowse link
G LOC130009846 ATAC-STARR-seq lymphoblastoid active region 7788 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,194,667...52,194,716 JBrowse link
G LOC130009847 ATAC-STARR-seq lymphoblastoid active region 7789 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,194,757...52,194,806 JBrowse link
G LOC130009848 ATAC-STARR-seq lymphoblastoid silent region 5384 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,406,102...52,406,261 JBrowse link
G LOC130009849 ATAC-STARR-seq lymphoblastoid silent region 5386 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,450,821...52,450,880 JBrowse link
G LOC130009850 ATAC-STARR-seq lymphoblastoid active region 7790 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,454,629...52,454,808 JBrowse link
G LOC130009851 ATAC-STARR-seq lymphoblastoid active region 7791 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,455,099...52,455,178 JBrowse link
G LOC130009852 ATAC-STARR-seq lymphoblastoid active region 7792 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,616,840...52,616,959 JBrowse link
G LOC130009853 ATAC-STARR-seq lymphoblastoid active region 7793 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,617,350...52,617,569 JBrowse link
G LOC130009854 ATAC-STARR-seq lymphoblastoid active region 7794 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,652,137...52,652,476 JBrowse link
G LOC130009855 ATAC-STARR-seq lymphoblastoid active region 7795 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,653,197...52,653,316 JBrowse link
G LOC130009856 ATAC-STARR-seq lymphoblastoid active region 7796 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,851,343...52,851,552 JBrowse link
G LOC130009857 ATAC-STARR-seq lymphoblastoid active region 7797 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,921,152...52,921,201 JBrowse link
G LOC130009858 ATAC-STARR-seq lymphoblastoid active region 7798 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,391,812...59,391,921 JBrowse link
G LOC130009859 ATAC-STARR-seq lymphoblastoid active region 7799 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,164,317...60,164,366 JBrowse link
G LOC130009860 ATAC-STARR-seq lymphoblastoid silent region 5389 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,329,699...60,329,768 JBrowse link
G LOC130009861 ATAC-STARR-seq lymphoblastoid active region 7800 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,396,142...60,396,211 JBrowse link
G LOC130009862 ATAC-STARR-seq lymphoblastoid silent region 5390 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,397,282...60,397,851 JBrowse link
G LOC130009863 ATAC-STARR-seq lymphoblastoid active region 7803 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,398,022...60,398,071 JBrowse link
G LOC130009864 ATAC-STARR-seq lymphoblastoid active region 7804 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,247,545...61,247,594 JBrowse link
G LOC130009865 ATAC-STARR-seq lymphoblastoid active region 7805 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,209,709...62,209,808 JBrowse link
G LOC130009866 ATAC-STARR-seq lymphoblastoid active region 7806 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,511,138...62,511,197 JBrowse link
G LOC130009867 ATAC-STARR-seq lymphoblastoid active region 7807 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:62,512,541...62,512,680 JBrowse link
G LOC130009868 ATAC-STARR-seq lymphoblastoid silent region 5391 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:67,230,607...67,230,746 JBrowse link
G LOC130009869 ATAC-STARR-seq lymphoblastoid silent region 5392 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:69,565,561...69,565,680 JBrowse link
G LOC130009870 ATAC-STARR-seq lymphoblastoid active region 7809 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,021,887...71,022,126 JBrowse link
G LOC130009871 ATAC-STARR-seq lymphoblastoid silent region 5393 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,056,847...71,056,936 JBrowse link
G LOC130009872 ATAC-STARR-seq lymphoblastoid active region 7810 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,291,189...71,291,478 JBrowse link
G LOC130009873 ATAC-STARR-seq lymphoblastoid active region 7811 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,876,041...71,876,090 JBrowse link
G LOC130009874 ATAC-STARR-seq lymphoblastoid active region 7812 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:71,879,127...71,879,406 JBrowse link
G LOC130009875 ATAC-STARR-seq lymphoblastoid active region 7813 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,727,365...72,727,434 JBrowse link
G LOC130009876 ATAC-STARR-seq lymphoblastoid silent region 5395 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,727,795...72,727,944 JBrowse link
G LOC130009877 ATAC-STARR-seq lymphoblastoid active region 7814 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,728,155...72,728,204 JBrowse link
G LOC130009878 ATAC-STARR-seq lymphoblastoid active region 7816 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,864,856...72,865,025 JBrowse link
G LOC130009879 ATAC-STARR-seq lymphoblastoid silent region 5397 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,058,749...73,059,358 JBrowse link
G LOC130009880 ATAC-STARR-seq lymphoblastoid silent region 5398 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,059,679...73,059,768 JBrowse link
G LOC130009881 ATAC-STARR-seq lymphoblastoid active region 7817 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,026,803...74,026,882 JBrowse link
G LOC130009882 ATAC-STARR-seq lymphoblastoid active region 7818 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,132,882...74,133,061 JBrowse link
G LOC130009883 ATAC-STARR-seq lymphoblastoid active region 7819 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,133,092...74,133,141 JBrowse link
G LOC130009884 ATAC-STARR-seq lymphoblastoid silent region 5399 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,134,151...74,135,900 JBrowse link
G LOC130009885 ATAC-STARR-seq lymphoblastoid active region 7820 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:74,158,047...74,158,156 JBrowse link
G LOC130009886 ATAC-STARR-seq lymphoblastoid active region 7821 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,310,591...75,310,650 JBrowse link
G LOC130009887 ATAC-STARR-seq lymphoblastoid active region 7822 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,326,924...75,327,043 JBrowse link
G LOC130009888 ATAC-STARR-seq lymphoblastoid active region 7823 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,365,708...75,365,977 JBrowse link
G LOC130009889 ATAC-STARR-seq lymphoblastoid active region 7824 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,385,357...75,385,406 JBrowse link
G LOC130009890 ATAC-STARR-seq lymphoblastoid active region 7825 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,391,416...75,391,465 JBrowse link
G LOC130009891 ATAC-STARR-seq lymphoblastoid active region 7826 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,395,327...75,395,376 JBrowse link
G LOC130009892 ATAC-STARR-seq lymphoblastoid silent region 5401 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,480,803...75,481,172 JBrowse link
G LOC130009893 ATAC-STARR-seq lymphoblastoid silent region 5402 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,481,773...75,482,222 JBrowse link
G LOC130009894 ATAC-STARR-seq lymphoblastoid active region 7827 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,482,703...75,482,792 JBrowse link
G LOC130009895 ATAC-STARR-seq lymphoblastoid active region 7828 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,513,518...75,513,567 JBrowse link
G LOC130009896 ATAC-STARR-seq lymphoblastoid active region 7829 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,537,883...75,537,962 JBrowse link
G LOC130009897 ATAC-STARR-seq lymphoblastoid active region 7830 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,549,236...75,549,305 JBrowse link
G LOC130009898 ATAC-STARR-seq lymphoblastoid active region 7831 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,549,566...75,549,685 JBrowse link
G LOC130009899 ATAC-STARR-seq lymphoblastoid silent region 5403 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,635,723...75,636,412 JBrowse link
G LOC130009900 ATAC-STARR-seq lymphoblastoid silent region 5404 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,636,443...75,636,492 JBrowse link
G LOC130009901 ATAC-STARR-seq lymphoblastoid silent region 5405 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,636,563...75,636,702 JBrowse link
G LOC130009902 ATAC-STARR-seq lymphoblastoid active region 7834 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,646,647...75,646,696 JBrowse link
G LOC130009903 ATAC-STARR-seq lymphoblastoid active region 7835 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,788,508...75,788,727 JBrowse link
G LOC130009904 ATAC-STARR-seq lymphoblastoid silent region 5406 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,876,567...75,876,656 JBrowse link
G LOC130009905 ATAC-STARR-seq lymphoblastoid silent region 5407 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,986,985...75,987,054 JBrowse link
G LOC130009906 ATAC-STARR-seq lymphoblastoid silent region 5408 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,016,953...76,017,002 JBrowse link
G LOC130009907 ATAC-STARR-seq lymphoblastoid silent region 5409 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,473,646...76,473,805 JBrowse link
G LOC130009908 ATAC-STARR-seq lymphoblastoid active region 7836 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,635,258...76,635,307 JBrowse link
G LOC130009909 ATAC-STARR-seq lymphoblastoid active region 7837 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,798,239...76,798,358 JBrowse link
G LOC130009910 ATAC-STARR-seq lymphoblastoid silent region 5411 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,886,203...76,886,632 JBrowse link
G LOC130009911 ATAC-STARR-seq lymphoblastoid silent region 5412 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,991,415...76,991,504 JBrowse link
G LOC130009912 ATAC-STARR-seq lymphoblastoid silent region 5413 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,991,595...76,991,664 JBrowse link
G LOC130009913 ATAC-STARR-seq lymphoblastoid silent region 5414 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:76,992,125...76,992,364 JBrowse link
G LOC130009914 ATAC-STARR-seq lymphoblastoid active region 7838 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,009,365...77,009,434 JBrowse link
G LOC130009915 ATAC-STARR-seq lymphoblastoid silent region 5415 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,026,700...77,026,759 JBrowse link
G LOC130009916 ATAC-STARR-seq lymphoblastoid silent region 5416 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,026,780...77,027,059 JBrowse link
G LOC130009917 ATAC-STARR-seq lymphoblastoid silent region 5417 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,027,230...77,027,279 JBrowse link
G LOC130009918 ATAC-STARR-seq lymphoblastoid active region 7839 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,184,786...77,184,835 JBrowse link
G LOC130009919 ATAC-STARR-seq lymphoblastoid active region 7840 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,325,394...77,325,573 JBrowse link
G LOC130009920 ATAC-STARR-seq lymphoblastoid silent region 5418 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,326,514...77,326,633 JBrowse link
G LOC130009921 ATAC-STARR-seq lymphoblastoid silent region 5419 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,326,674...77,327,053 JBrowse link
G LOC130009922 ATAC-STARR-seq lymphoblastoid active region 7841 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,327,244...77,327,573 JBrowse link
G LOC130009923 ATAC-STARR-seq lymphoblastoid active region 7842 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,329,595...77,329,674 JBrowse link
G LOC130009924 ATAC-STARR-seq lymphoblastoid active region 7843 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,339,301...77,339,490 JBrowse link
G LOC130009925 ATAC-STARR-seq lymphoblastoid active region 7844 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,429,603...77,429,812 JBrowse link
G LOC130009926 ATAC-STARR-seq lymphoblastoid active region 7845 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,448,677...77,449,056 JBrowse link
G LOC130009927 ATAC-STARR-seq lymphoblastoid silent region 5420 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,697,445...77,698,004 JBrowse link
G LOC130009928 ATAC-STARR-seq lymphoblastoid silent region 5421 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,698,205...77,698,444 JBrowse link
G LOC130009929 ATAC-STARR-seq lymphoblastoid silent region 5422 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,698,605...77,698,754 JBrowse link
G LOC130009930 ATAC-STARR-seq lymphoblastoid active region 7846 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,724,159...77,724,288 JBrowse link
G LOC130009931 ATAC-STARR-seq lymphoblastoid active region 7847 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,201,518...78,201,587 JBrowse link
G LOC130009932 ATAC-STARR-seq lymphoblastoid silent region 5424 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,603,343...78,603,502 JBrowse link
G LOC130009933 ATAC-STARR-seq lymphoblastoid active region 7849 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,109,115...79,109,194 JBrowse link
G LOC130009934 ATAC-STARR-seq lymphoblastoid silent region 5425 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,190,943...79,191,052 JBrowse link
G LOC130009935 ATAC-STARR-seq lymphoblastoid active region 7850 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,194,238...79,194,327 JBrowse link
G LOC130009936 ATAC-STARR-seq lymphoblastoid active region 7851 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,194,438...79,194,657 JBrowse link
G LOC130009937 ATAC-STARR-seq lymphoblastoid active region 7852 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,194,918...79,195,037 JBrowse link
G LOC130009938 ATAC-STARR-seq lymphoblastoid active region 7853 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,228,018...79,228,067 JBrowse link
G LOC130009939 ATAC-STARR-seq lymphoblastoid active region 7854 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,246,206...79,246,265 JBrowse link
G LOC130009940 ATAC-STARR-seq lymphoblastoid active region 7855 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,246,276...79,246,355 JBrowse link
G LOC130009941 ATAC-STARR-seq lymphoblastoid active region 7856 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,393,197...79,393,256 JBrowse link
G LOC130009942 ATAC-STARR-seq lymphoblastoid active region 7857 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,393,267...79,393,316 JBrowse link
G LOC130009943 ATAC-STARR-seq lymphoblastoid silent region 5427 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,468,945...79,469,054 JBrowse link
G LOC130009944 ATAC-STARR-seq lymphoblastoid active region 7859 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,048,939...80,049,188 JBrowse link
G LOC130009945 ATAC-STARR-seq lymphoblastoid active region 7860 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,338,930...80,338,979 JBrowse link
G LOC130009946 ATAC-STARR-seq lymphoblastoid silent region 5428 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,341,074...80,341,263 JBrowse link
G LOC130009947 ATAC-STARR-seq lymphoblastoid silent region 5429 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,341,494...80,341,543 JBrowse link
G LOC130009948 ATAC-STARR-seq lymphoblastoid active region 7861 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,873,699...80,873,778 JBrowse link
G LOC132090195 Neanderthal introgressed variant-containing enhancer experimental_32930 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,771,416...51,771,585 JBrowse link
G LOC132090196 Neanderthal introgressed variant-containing enhancer experimental_33081 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,453,153...63,453,322 JBrowse link
G LOC132090197 Neanderthal introgressed variant-containing enhancer experimental_33146 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,511,986...63,512,155 JBrowse link
G LOC132090198 Neanderthal introgressed variant-containing enhancer experimental_33299 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,954,112...73,954,281 JBrowse link
G LOC132090199 Neanderthal introgressed variant-containing enhancer experimental_33300 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,955,851...73,956,020 JBrowse link
G LOC132090200 Neanderthal introgressed variant-containing enhancer experimental_33301 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,956,068...73,956,237 JBrowse link
G LOC132090201 Neanderthal introgressed variant-containing enhancer experimental_33303 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:73,960,816...73,960,985 JBrowse link
G LOC132090202 Neanderthal introgressed variant-containing enhancer experimental_33391 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,451,310...80,451,479 JBrowse link
G LOC132090203 Neanderthal introgressed variant-containing enhancer experimental_33392 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,456,485...80,456,654 JBrowse link
G LOC132090204 Neanderthal introgressed variant-containing enhancer experimental_33463 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,615,418...80,615,587 JBrowse link
G LOC132090205 Neanderthal introgressed variant-containing enhancer experimental_33503 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:81,755,147...81,755,316 JBrowse link
G LOC132090864 Neanderthal introgressed variant-containing enhancer experimental_33339 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,354,777...77,354,946 JBrowse link
G LOC132090865 Neanderthal introgressed variant-containing enhancer experimental_33432 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,566,314...80,566,483 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704 		JBrowse link
G MED4 mediator complex subunit 4 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131 		JBrowse link
G MED4-AS1 MED4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,077,137...48,079,993
Ensembl chr13:48,058,699...48,080,010 		JBrowse link
G MIR1297 microRNA 1297 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,311,972...54,312,048
Ensembl chr13:54,311,972...54,312,048 		JBrowse link
G MIR15A microRNA 15a IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,049,119...50,049,201
Ensembl chr13:50,049,119...50,049,201 		JBrowse link
G MIR16-1 microRNA 16-1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,048,973...50,049,061
Ensembl chr13:50,048,973...50,049,061 		JBrowse link
G MIR3169 microRNA 3169 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,199,798...61,199,880
Ensembl chr13:61,199,798...61,199,880 		JBrowse link
G MIR3613 microRNA 3613 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,996,415...49,996,501
Ensembl chr13:49,996,415...49,996,501 		JBrowse link
G MIR3665 microRNA 3665 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,698,012...77,698,116
Ensembl chr13:77,698,012...77,698,116 		JBrowse link
G MIR4703 microRNA 4703 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,552,589...51,552,667
Ensembl chr13:51,552,589...51,552,667 		JBrowse link
G MIR4704 microRNA 4704 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,218,250...66,218,324
Ensembl chr13:66,218,250...66,218,324 		JBrowse link
G MIR5007 microRNA 5007 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:55,174,454...55,174,548
Ensembl chr13:55,174,454...55,174,548 		JBrowse link
G MIR548X2 microRNA 548x-2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,966,330...65,966,429
Ensembl chr13:65,966,330...65,966,429 		JBrowse link
G MIR5693 microRNA 5693 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,348,567...51,348,639
Ensembl chr13:51,348,567...51,348,639 		JBrowse link
G MIR759 microRNA 759 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,810,050...52,810,140
Ensembl chr13:52,810,050...52,810,140 		JBrowse link
G MLNR motilin receptor IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,220,338...49,222,377
Ensembl chr13:49,220,338...49,222,377 		JBrowse link
G MYCBP2 MYC binding protein 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,044,657...77,327,094
Ensembl chr13:77,042,474...77,327,094 		JBrowse link
G MYCBP2-AS1 MYCBP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,075,514...77,087,776
Ensembl chr13:77,026,767...77,129,717 		JBrowse link
G MYCBP2-AS2 MYCBP2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,080,511...77,081,190
Ensembl chr13:77,080,511...77,081,190 		JBrowse link
G MZT1 mitotic spindle organizing protein 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,708,367...72,727,629
Ensembl chr13:72,708,367...72,727,629 		JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,481,155...79,556,077
Ensembl chr13:79,481,155...79,556,077 		JBrowse link
G NDFIP2-AS1 NDFIP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,477,364...79,481,231
Ensembl chr13:79,422,549...79,481,950 		JBrowse link
G NEK3 NIMA related kinase 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,132,647...52,159,860
Ensembl chr13:52,132,639...52,159,597 		JBrowse link
G NEK5 NIMA related kinase 5 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,033,611...52,129,073
Ensembl chr13:52,033,611...52,129,092 		JBrowse link
G NUDT15 nudix hydrolase 15 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,037,726...48,052,755
Ensembl chr13:48,037,726...48,047,221 		JBrowse link
G OBI1 ORC ubiquitin ligase 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,614,289...78,659,155
Ensembl chr13:78,614,289...78,659,155 		JBrowse link
G OBI1-AS1 OBI1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,054,855...78,617,325
Ensembl chr13:77,919,689...78,617,334 		JBrowse link
G OLFM4 olfactomedin 4 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,028,813...53,052,057
Ensembl chr13:53,028,813...53,052,057 		JBrowse link
G OR7E104P olfactory receptor family 7 subfamily E member 104 pseudogene IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:63,828,840...63,844,125
Ensembl chr13:63,828,840...63,844,125 		JBrowse link
G PCDH17 protocadherin 17 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,630,108...57,729,311
Ensembl chr13:57,631,744...57,729,311 		JBrowse link
G PCDH20 protocadherin 20 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,409,685...61,415,849
Ensembl chr13:61,409,685...61,415,849 		JBrowse link
G PCDH8 protocadherin 8 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,842,889...52,848,640
Ensembl chr13:52,842,889...52,848,641 		JBrowse link
G PCDH9 protocadherin 9 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,302,834...67,230,336
Ensembl chr13:66,302,834...67,230,445 		JBrowse link
G PCDH9-AS1 PCDH9 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,303,871...66,323,561
Ensembl chr13:66,303,871...66,323,561 		JBrowse link
G PCDH9-AS2 PCDH9 antisense RNA 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,825,169...66,915,031
Ensembl chr13:66,825,169...66,929,890 		JBrowse link
G PCDH9-AS3 PCDH9 antisense RNA 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,977,389...66,985,776
Ensembl chr13:66,977,432...67,002,007 		JBrowse link
G PCDH9-AS4 PCDH9 antisense RNA 4 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,990,886...67,002,000
Ensembl chr13:66,977,432...67,002,007 		JBrowse link
G PHF11 PHD finger protein 11 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,495,953...49,528,976
Ensembl chr13:49,495,610...49,528,981 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552 		JBrowse link
G PRR20A proline rich 20A IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,140,918...57,143,939
Ensembl chr13:57,140,918...57,143,939 		JBrowse link
G PRR20B proline rich 20B IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,147,488...57,150,509
Ensembl chr13:57,147,488...57,150,509 		JBrowse link
G PRR20C proline rich 20C IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,154,061...57,157,082
Ensembl chr13:57,140,918...57,157,082 		JBrowse link
G PRR20D proline rich 20D IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,160,632...57,163,653
Ensembl chr13:57,160,632...57,163,653 		JBrowse link
G PRR20E proline rich 20E IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,167,197...57,170,218
Ensembl chr13:57,167,197...57,170,218 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RB1-DT RB1 divergent transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,296,513...48,303,702
Ensembl chr13:48,291,549...48,303,723 		JBrowse link
G RBM26 RNA binding motif protein 26 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,311,827...79,406,255
Ensembl chr13:79,311,824...79,406,477 		JBrowse link
G RBM26-AS1 RBM26 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:79,406,309...79,424,336
Ensembl chr13:79,405,901...79,427,317 		JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,531,946...49,585,558
Ensembl chr13:49,531,946...49,585,558 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,488,963...48,535,895
Ensembl chr13:48,488,963...48,533,256 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,789 		JBrowse link
G SCEL sciellin IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,535,706...77,645,263
Ensembl chr13:77,535,674...77,645,263 		JBrowse link
G SCEL-AS1 SCEL antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,599,755...77,606,551
Ensembl chr13:77,599,755...77,606,551 		JBrowse link
G SERPINE3 serpin family E member 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,339,691...51,364,735
Ensembl chr13:51,335,773...51,364,735 		JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,444,274...49,495,003
Ensembl chr13:49,444,274...49,495,003 		JBrowse link
G SETDB2-PHF11 SETDB2-PHF11 readthrough IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,444,274...49,528,976 JBrowse link
G SLAIN1 SLAIN motif family member 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:77,697,687...77,764,229
Ensembl chr13:77,697,687...77,764,242 		JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:83,877,205...83,882,474
Ensembl chr13:83,877,205...83,882,474 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683 		JBrowse link
G SNORA107 small nucleolar RNA, H/ACA box 107 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:84,783,654...84,783,778 JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126 		JBrowse link
G SPRYD7 SPRY domain containing 7 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,912,702...49,936,340
Ensembl chr13:49,912,702...49,936,490 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SUCLA2-AS1 SUCLA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:48,001,405...48,002,691
Ensembl chr13:48,001,389...48,002,620 		JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,652,836...52,700,909
Ensembl chr13:52,652,709...52,700,909 		JBrowse link
G SUGT1-DT SUGT1 divergent transcript IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,651,305...52,652,307
Ensembl chr13:52,651,304...52,652,395 		JBrowse link
G TBC1D4 TBC1 domain family member 4 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,283,503...75,482,169
Ensembl chr13:75,283,503...75,482,169 		JBrowse link
G TDRD3 tudor domain containing 3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,395,533...60,573,879
Ensembl chr13:60,396,457...60,573,878 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G TMEM272 transmembrane protein 272 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,813,347...51,934,366
Ensembl chr13:51,813,347...51,845,177 		JBrowse link
G TRIM13 tripartite motif containing 13 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:49,997,042...50,018,467
Ensembl chr13:49,995,888...50,020,481 		JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:75,549,502...75,606,020
Ensembl chr13:75,549,483...75,606,020 		JBrowse link
G UTP14C UTP14C small subunit processome component IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,024,691...52,033,600
Ensembl chr13:52,024,691...52,033,600 		JBrowse link
G VPS36 vacuolar protein sorting 36 homolog IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,412,606...52,450,634
Ensembl chr13:52,412,602...52,450,634 		JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 IAGP ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:51,584,462...51,767,709
Ensembl chr13:51,584,455...51,767,709 		JBrowse link
chromosome 17p13.3 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABR ABR activator of RhoGEF and GTPase IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,003,519...1,229,722
Ensembl chr17:1,003,519...1,229,738 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G CRK CRK proto-oncogene, adaptor protein IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,420,693...1,456,232
Ensembl chr17:1,420,689...1,463,162 		JBrowse link
G LOC112529892 Sharpr-MPRA regulatory region 4720 IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,438,755...1,439,049 JBrowse link
G LOC121848004 Sharpr-MPRA regulatory region 14526 IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,347,715...1,348,009 JBrowse link
G LOC130059873 ATAC-STARR-seq lymphoblastoid active region 11447 IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,228,228...1,228,437 JBrowse link
G LOC130059874 ATAC-STARR-seq lymphoblastoid silent region 7948 IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,229,458...1,229,587 JBrowse link
G LOC130059875 ATAC-STARR-seq lymphoblastoid silent region 7949 IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,229,608...1,230,087 JBrowse link
G LOC130059876 ATAC-STARR-seq lymphoblastoid active region 11448 IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,230,368...1,230,427 JBrowse link
G TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,279,662...1,300,978
Ensembl chr17:1,279,662...1,300,978 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon IAGP ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222 		JBrowse link
chromosome 3q29 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP19 centrosomal protein 19 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330 		JBrowse link
G DLG1-AS1 DLG1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,298,247...197,303,751
Ensembl chr 3:197,298,225...197,309,307 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299 		JBrowse link
G FBXO45 F-box protein 45 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,568,660...196,589,059
Ensembl chr 3:196,568,611...196,589,059 		JBrowse link
G LINC00885 long intergenic non-protein coding RNA 885 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,142,636...196,160,890
Ensembl chr 3:196,141,940...196,193,538 		JBrowse link
G LINC01063 long intergenic non-protein coding RNA 1063 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,631,504...196,632,587
Ensembl chr 3:196,631,009...196,632,706 		JBrowse link
G LINC01983 long intergenic non-protein coding RNA 1983 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,836,455...195,860,404
Ensembl chr 3:195,836,193...195,860,486 		JBrowse link
G LOC112935924 BRD4-independent group 4 enhancer GRCh37_chr3:196064783-196065982 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,337,912...196,339,111 JBrowse link
G LOC115995537 CRISPRi-validated cis-regulatory element chr3.5812 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,181,819...196,182,308 JBrowse link
G LOC115995538 CRISPRi-validated cis-regulatory element chr3.5817 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,193,787...196,194,446 JBrowse link
G LOC121048736 BRD4-independent group 4 enhancer GRCh37_chr3:196758105-196759304 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,031,234...197,032,433 JBrowse link
G LOC123464498 Sharpr-MPRA regulatory region 7098 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,219,236...196,219,645 JBrowse link
G LOC123464499 Sharpr-MPRA regulatory region 4041 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,569,278...196,569,572 JBrowse link
G LOC123464500 OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196392961-196393623 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,666,090...196,666,752 JBrowse link
G LOC123464501 Sharpr-MPRA regulatory region 11589 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,951,358...196,951,652 JBrowse link
G LOC123464502 Sharpr-MPRA regulatory region 2091 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,990,798...196,991,092 JBrowse link
G LOC126806932 BRD4-independent group 4 enhancer GRCh37_chr3:195973646-195974845 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,246,775...196,247,974 JBrowse link
G LOC126806933 MED14-independent group 3 enhancer GRCh37_chr3:196289997-196291196 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,563,126...196,564,325 JBrowse link
G LOC126806934 BRD4-independent group 4 enhancer GRCh37_chr3:196293567-196294766 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,566,696...196,567,895 JBrowse link
G LOC129389195 MPRA-validated peak4987 silencer IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,834,004...195,834,204 JBrowse link
G LOC129389196 MPRA-validated peak4992 silencer IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,077,314...197,077,514 JBrowse link
G LOC129938246 ATAC-STARR-seq lymphoblastoid silent region 15041 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,895,555...195,895,614 JBrowse link
G LOC129938247 ATAC-STARR-seq lymphoblastoid silent region 15042 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,895,825...195,896,104 JBrowse link
G LOC129938248 ATAC-STARR-seq lymphoblastoid active region 21059 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,896,245...195,896,464 JBrowse link
G LOC129938249 ATAC-STARR-seq lymphoblastoid active region 21060 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,900,905...195,901,064 JBrowse link
G LOC129938250 ATAC-STARR-seq lymphoblastoid active region 21061 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,906,765...195,906,814 JBrowse link
G LOC129938251 ATAC-STARR-seq lymphoblastoid active region 21062 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,906,865...195,907,094 JBrowse link
G LOC129938252 ATAC-STARR-seq lymphoblastoid silent region 15043 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,908,765...195,909,014 JBrowse link
G LOC129938253 ATAC-STARR-seq lymphoblastoid silent region 15044 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,909,065...195,909,254 JBrowse link
G LOC129938254 ATAC-STARR-seq lymphoblastoid silent region 15045 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,909,305...195,909,954 JBrowse link
G LOC129938255 ATAC-STARR-seq lymphoblastoid active region 21063 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,910,085...195,910,134 JBrowse link
G LOC129938256 ATAC-STARR-seq lymphoblastoid silent region 15047 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,954,327...195,954,466 JBrowse link
G LOC129938257 ATAC-STARR-seq lymphoblastoid active region 21064 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,961,263...195,961,312 JBrowse link
G LOC129938258 ATAC-STARR-seq lymphoblastoid silent region 15048 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,961,613...195,961,662 JBrowse link
G LOC129938259 ATAC-STARR-seq lymphoblastoid silent region 15049 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,989,695...195,989,854 JBrowse link
G LOC129938260 ATAC-STARR-seq lymphoblastoid silent region 15050 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,990,192...195,990,491 JBrowse link
G LOC129938261 ATAC-STARR-seq lymphoblastoid silent region 15051 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,073,293...196,073,342 JBrowse link
G LOC129938262 ATAC-STARR-seq lymphoblastoid silent region 15052 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,081,723...196,082,022 JBrowse link
G LOC129938263 ATAC-STARR-seq lymphoblastoid silent region 15053 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,082,073...196,082,412 JBrowse link
G LOC129938264 ATAC-STARR-seq lymphoblastoid active region 21065 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,096,910...196,096,959 JBrowse link
G LOC129938265 ATAC-STARR-seq lymphoblastoid silent region 15054 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,111,935...196,111,994 JBrowse link
G LOC129938266 ATAC-STARR-seq lymphoblastoid silent region 15055 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,117,988...196,118,037 JBrowse link
G LOC129938267 ATAC-STARR-seq lymphoblastoid active region 21066 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,140,440...196,140,489 JBrowse link
G LOC129938268 ATAC-STARR-seq lymphoblastoid active region 21067 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,140,540...196,140,599 JBrowse link
G LOC129938269 ATAC-STARR-seq lymphoblastoid active region 21068 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,159,867...196,159,936 JBrowse link
G LOC129938270 ATAC-STARR-seq lymphoblastoid active region 21069 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,159,957...196,160,156 JBrowse link
G LOC129938271 ATAC-STARR-seq lymphoblastoid silent region 15056 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,160,457...196,160,506 JBrowse link
G LOC129938272 ATAC-STARR-seq lymphoblastoid active region 21070 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,179,788...196,179,987 JBrowse link
G LOC129938273 ATAC-STARR-seq lymphoblastoid active region 21071 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,181,655...196,181,754 JBrowse link
G LOC129938274 ATAC-STARR-seq lymphoblastoid active region 21072 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,183,426...196,183,515 JBrowse link
G LOC129938275 ATAC-STARR-seq lymphoblastoid active region 21076 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,196,502...196,196,571 JBrowse link
G LOC129938276 ATAC-STARR-seq lymphoblastoid active region 21077 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,196,602...196,196,701 JBrowse link
G LOC129938277 ATAC-STARR-seq lymphoblastoid silent region 15057 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,207,446...196,207,565 JBrowse link
G LOC129938278 ATAC-STARR-seq lymphoblastoid silent region 15058 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,207,823...196,207,972 JBrowse link
G LOC129938279 ATAC-STARR-seq lymphoblastoid active region 21081 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,232,552...196,232,621 JBrowse link
G LOC129938280 ATAC-STARR-seq lymphoblastoid active region 21082 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,232,742...196,233,031 JBrowse link
G LOC129938281 ATAC-STARR-seq lymphoblastoid active region 21083 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,274,752...196,274,961 JBrowse link
G LOC129938282 ATAC-STARR-seq lymphoblastoid silent region 15059 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,288,043...196,288,152 JBrowse link
G LOC129938283 ATAC-STARR-seq lymphoblastoid active region 21086 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,292,747...196,292,836 JBrowse link
G LOC129938284 ATAC-STARR-seq lymphoblastoid silent region 15060 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,317,760...196,318,009 JBrowse link
G LOC129938285 ATAC-STARR-seq lymphoblastoid active region 21087 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,318,070...196,318,169 JBrowse link
G LOC129938286 ATAC-STARR-seq lymphoblastoid silent region 15063 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,440,291...196,440,370 JBrowse link
G LOC129938287 ATAC-STARR-seq lymphoblastoid silent region 15064 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,462,849...196,462,898 JBrowse link
G LOC129938288 ATAC-STARR-seq lymphoblastoid active region 21090 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,463,019...196,463,068 JBrowse link
G LOC129938289 ATAC-STARR-seq lymphoblastoid active region 21091 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,463,079...196,463,168 JBrowse link
G LOC129938290 ATAC-STARR-seq lymphoblastoid active region 21092 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,464,029...196,464,188 JBrowse link
G LOC129938291 ATAC-STARR-seq lymphoblastoid silent region 15065 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,503,718...196,504,017 JBrowse link
G LOC129938292 ATAC-STARR-seq lymphoblastoid active region 21095 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,527,918...196,527,987 JBrowse link
G LOC129938293 ATAC-STARR-seq lymphoblastoid silent region 15066 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,528,758...196,529,057 JBrowse link
G LOC129938294 ATAC-STARR-seq lymphoblastoid silent region 15067 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,568,617...196,569,156 JBrowse link
G LOC129938295 ATAC-STARR-seq lymphoblastoid active region 21096 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,620,214...196,620,283 JBrowse link
G LOC129938296 ATAC-STARR-seq lymphoblastoid silent region 15069 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,639,331...196,639,760 JBrowse link
G LOC129938297 ATAC-STARR-seq lymphoblastoid silent region 15070 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,639,781...196,639,880 JBrowse link
G LOC129938298 ATAC-STARR-seq lymphoblastoid active region 21097 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,640,331...196,640,450 JBrowse link
G LOC129938299 ATAC-STARR-seq lymphoblastoid active region 21098 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,641,619...196,641,968 JBrowse link
G LOC129938300 ATAC-STARR-seq lymphoblastoid active region 21099 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,641,989...196,642,048 JBrowse link
G LOC129938301 ATAC-STARR-seq lymphoblastoid active region 21100 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,643,493...196,643,542 JBrowse link
G LOC129938302 ATAC-STARR-seq lymphoblastoid active region 21101 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,643,673...196,643,912 JBrowse link
G LOC129938303 ATAC-STARR-seq lymphoblastoid silent region 15072 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,739,648...196,740,437 JBrowse link
G LOC129938304 ATAC-STARR-seq lymphoblastoid silent region 15073 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,867,697...196,868,276 JBrowse link
G LOC129938305 ATAC-STARR-seq lymphoblastoid active region 21106 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,981,773...196,981,832 JBrowse link
G LOC129938306 ATAC-STARR-seq lymphoblastoid silent region 15080 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,002,405...197,002,484 JBrowse link
G LOC129938307 ATAC-STARR-seq lymphoblastoid silent region 15081 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,002,635...197,003,424 JBrowse link
G LOC129938308 ATAC-STARR-seq lymphoblastoid silent region 15082 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,003,465...197,003,864 JBrowse link
G LOC129938309 ATAC-STARR-seq lymphoblastoid active region 21107 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,022,734...197,022,783 JBrowse link
G LOC129938310 ATAC-STARR-seq lymphoblastoid silent region 15083 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,029,080...197,029,259 JBrowse link
G LOC129938311 ATAC-STARR-seq lymphoblastoid silent region 15084 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,029,450...197,029,499 JBrowse link
G LOC129938312 ATAC-STARR-seq lymphoblastoid silent region 15086 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,297,539...197,298,168 JBrowse link
G LOC129938313 ATAC-STARR-seq lymphoblastoid silent region 15087 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,298,659...197,298,788 JBrowse link
G MELTF melanotransferrin IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,001,740...197,029,817
Ensembl chr 3:196,980,590...197,029,835 		JBrowse link
G MELTF-AS1 MELTF antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,002,906...197,004,744
Ensembl chr 3:196,999,460...197,004,748 		JBrowse link
G MIR4797 microRNA 4797 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:197,293,878...197,293,948
Ensembl chr 3:197,293,878...197,293,948 		JBrowse link
G MIR6829 microRNA 6829 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,882,329...195,882,395
Ensembl chr 3:195,882,329...195,882,395 		JBrowse link
G NCBP2 nuclear cap binding protein subunit 2 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,935,406...196,942,528
Ensembl chr 3:196,935,402...196,942,594 		JBrowse link
G NCBP2-AS1 NCBP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,939,877...196,942,534
Ensembl chr 3:196,939,877...196,942,534 		JBrowse link
G NCBP2AS2 NCBP2 antisense 2 (head to head) IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,942,674...196,943,543
Ensembl chr 3:196,942,674...196,943,543 		JBrowse link
G NRROS negative regulator of reactive oxygen species IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,639,694...196,662,004
Ensembl chr 3:196,639,694...196,662,004 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PIGX phosphatidylinositol glycan anchor biosynthesis class X IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,712,377...196,736,007
Ensembl chr 3:196,639,775...196,736,007 		JBrowse link
G PIGZ phosphatidylinositol glycan anchor biosynthesis class Z IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,946,356...196,968,833
Ensembl chr 3:196,946,356...196,969,060 		JBrowse link
G RNF168 ring finger protein 168 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768 		JBrowse link
G SENP5 SUMO specific peptidase 5 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,867,920...196,934,714
Ensembl chr 3:196,867,856...196,934,714 		JBrowse link
G SLC51A solute carrier family 51 member A IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178 		JBrowse link
G SMCO1 single-pass membrane protein with coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,506,879...196,520,955
Ensembl chr 3:196,506,879...196,515,346 		JBrowse link
G TFRC transferrin receptor IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
G TM4SF19 transmembrane 4 L six family member 19 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,323,547...196,338,388
Ensembl chr 3:196,319,342...196,338,503 		JBrowse link
G TM4SF19-AS1 TM4SF19 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,318,332...196,325,570
Ensembl chr 3:196,318,288...196,325,570 		JBrowse link
G TM4SF19-DYNLT2B TM4SF19-DYNLT2B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,316,085...196,338,420
Ensembl chr 3:196,316,082...196,338,373 		JBrowse link
G TNK2 tyrosine kinase non receptor 2 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,863,364...195,908,551
Ensembl chr 3:195,863,364...195,911,945 		JBrowse link
G TNK2-AS1 TNK2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:195,908,076...195,913,264
Ensembl chr 3:195,908,076...195,913,986 		JBrowse link
G UBXN7 UBX domain protein 7 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,347,662...196,432,427
Ensembl chr 3:196,347,659...196,432,430 		JBrowse link
G UBXN7-AS1 UBXN7 antisense RNA 1 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,431,385...196,433,034
Ensembl chr 3:196,431,385...196,433,034 		JBrowse link
G WDR53 WD repeat domain 53 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,554,177...196,568,554
Ensembl chr 3:196,554,177...196,568,674 		JBrowse link
G ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 IAGP ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr 3:196,197,452...196,211,400
Ensembl chr 3:196,197,452...196,211,437 		JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC32 leucine rich repeat containing 32 IAGP ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD46 ankyrin repeat domain 46 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,509,752...100,559,759
Ensembl chr 8:100,509,752...100,559,784 		JBrowse link
G ATP6V1C1 ATPase H+ transporting V1 subunit C1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,021,083...103,073,051
Ensembl chr 8:103,021,063...103,073,051 		JBrowse link
G AZIN1 antizyme inhibitor 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,826,302...102,864,200
Ensembl chr 8:102,826,111...102,893,864 		JBrowse link
G BAALC BAALC binder of MAP3K1 and KLF4 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,140,725...103,230,305
Ensembl chr 8:103,140,713...103,230,305 		JBrowse link
G COX6C cytochrome c oxidase subunit 6C IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,877,865...99,893,707
Ensembl chr 8:99,873,200...99,893,707 		JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,371,538...103,382,989
Ensembl chr 8:103,371,538...103,382,989 		JBrowse link
G DCAF13 DDB1 and CUL4 associated factor 13 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,415,386...103,443,453
Ensembl chr 8:103,414,714...103,443,453 		JBrowse link
G DCSTAMP dendrocyte expressed seven transmembrane protein IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:104,339,796...104,356,689
Ensembl chr 8:104,339,087...104,356,689 		JBrowse link
G DPYS dihydropyrimidinase IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055 		JBrowse link
G FBXO43 F-box protein 43 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G KCNS2 potassium voltage-gated channel modifier subfamily S member 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:98,426,958...98,432,853
Ensembl chr 8:98,426,958...98,432,853 		JBrowse link
G KLF10 KLF transcription factor 10 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,648,784...102,655,725
Ensembl chr 8:102,648,784...102,655,725 		JBrowse link
G LOC110120801 VISTA enhancer hs909 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:99,668,181...99,669,581 JBrowse link
G LOC113783876 Sharpr-MPRA regulatory region 5914 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar NCBI chr 8:99,013,019...99,013,395 JBrowse link
G LOC126860453 MED14-independent group 3 enhancer GRCh37_chr8:100782591-100783790 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,770,363...99,771,562 JBrowse link
G LOC130000825 ATAC-STARR-seq lymphoblastoid active region 27683 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,080,811...99,080,870 JBrowse link
G LOC130000832 ATAC-STARR-seq lymphoblastoid silent region 19412 IAGP ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:100,213,166...100,213,525 JBrowse link
G LRP12 LDL receptor related protein 12 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G MIR599 microRNA 599 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:99,536,636...99,536,730
Ensembl chr 8:99,536,636...99,536,730 		JBrowse link
G MIR875 microRNA 875 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:99,536,786...99,536,861
Ensembl chr 8:99,536,786...99,536,861 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G NCALD neurocalcin delta IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,686,542...102,124,907
Ensembl chr 8:101,686,542...102,124,907 		JBrowse link
G NIPAL2 NIPA like domain containing 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,189,826...98,294,235
Ensembl chr 8:98,189,826...98,294,393 		JBrowse link
G ODF1 outer dense fiber of sperm tails 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,551,589...102,561,018
Ensembl chr 8:102,551,589...102,561,018 		JBrowse link
G OSR2 odd-skipped related transciption factor 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:98,944,442...98,952,100
Ensembl chr 8:98,944,403...98,952,104 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,702,916...100,722,088
Ensembl chr 8:100,685,816...100,722,809 		JBrowse link
G POLR2K RNA polymerase II, I and III subunit K IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,150,636...100,154,003
Ensembl chr 8:100,150,623...100,154,003 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835 		JBrowse link
G RGS22 regulator of G protein signaling 22 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:99,960,936...100,106,049
Ensembl chr 8:99,960,936...100,131,268 		JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,500,610...104,256,094
Ensembl chr 8:103,500,610...104,254,430 		JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,257,067...100,336,204
Ensembl chr 8:100,257,060...100,336,218 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SLC25A32 solute carrier family 25 member 32 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:103,398,638...103,415,107
Ensembl chr 8:103,398,635...103,415,189 		JBrowse link
G SNX31 sorting nexin 31 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,572,874...100,663,585
Ensembl chr 8:100,572,889...100,663,415 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP ClinVar Annotator: match by term: VPS13B-related condition
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G STK3 serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr 8:98,343,975...98,942,610
Ensembl chr 8:98,371,228...98,942,827 		JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759 		JBrowse link
G UBR5-DT UBR5 divergent transcript IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:102,239,451...102,252,174
Ensembl chr 8:102,239,386...102,253,750 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP
ISS
EXP		 ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:100,916,523...100,953,382
Ensembl chr 8:100,916,523...100,953,388 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZNF706 zinc finger protein 706 IAGP ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr 8:101,197,052...101,206,222
Ensembl chr 8:101,177,878...101,206,193 		JBrowse link
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 IAGP
ISS		 ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
ClinVar Annotator: match by term: CDK13-related disorder | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
OMIM:617360
DNA:Mutations:cds :
DNA:mutations:cds:
DNA:mutations: :		 ClinVar
MouseDO
OMIM
RGD		 PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 More... RGD:155631312, RGD:155631311, RGD:155641229, RGD:11560583 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G LOC129998292 ATAC-STARR-seq lymphoblastoid silent region 18115 IAGP ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
ClinVar Annotator: match by term: CDK13-related disorder | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		 ClinVar PMID:25741868 PMID:27479907 PMID:28492532 PMID:29021403 PMID:29393965 More... NCBI chr 7:39,950,834...39,951,123 JBrowse link
G LOC129998293 ATAC-STARR-seq lymphoblastoid silent region 18116 IAGP ClinVar Annotator: match by term: CDK13-related disorder
ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:39,951,194...39,951,253 JBrowse link
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 IAGP ClinVar Annotator: match by term: ATN1-related condition | ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies OMIM
ClinVar		 PMID:17067864 PMID:25741868 PMID:30827498 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NALCN sodium leak channel, non-selective IAGP ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar
OMIM		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 More... NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NALCN-AS1 NALCN antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr13:100,708,325...101,059,286
Ensembl chr13:100,708,325...101,081,764 		JBrowse link
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEUROG1 neurogenin 1 IAGP ClinVar Annotator: match by term: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay ClinVar
OMIM		 PMID:25741868 PMID:26077850 PMID:33439489 PMID:36647078 NCBI chr 5:135,534,282...135,535,964
Ensembl chr 5:135,534,282...135,535,964 		JBrowse link
DeSanto-Shinawi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130003574 ATAC-STARR-seq lymphoblastoid silent region 2253 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES ClinVar NCBI chr10:28,533,522...28,533,601 JBrowse link
G LOC130003576 ATAC-STARR-seq lymphoblastoid silent region 2255 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES ClinVar PMID:25741868 NCBI chr10:28,533,872...28,534,121 JBrowse link
G WAC WW domain containing adaptor with coiled-coil IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition		 ClinVar
OMIM		 PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 More... NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112 		JBrowse link
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SATB1 SATB homeobox 1 IAGP ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754 NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GOLGA2 golgin A2 IAGP ClinVar Annotator: match by term: GOLGA2-related condition
ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities		 OMIM
ClinVar		 PMID:25741868 PMID:30237576 PMID:34424553 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
Developmental Delay with or without Dysmorphic Facies and Autism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126860121 MED14-independent group 3 enhancer GRCh37_chr7:98547245-98548444 IAGP ClinVar Annotator: match by term: TRRAP-related disorder
ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:98,949,622...98,950,821 JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-related disorder
ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-related disorder | ClinVar Annotator: match by term: TRRAP-related neurodevelopmental disorder		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30424743 More... NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 IAGP DNA:mutations:cds:multiples RGD PMID:30291340 RGD:155598678 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G TAOK1 TAO kinase 1 IAGP ClinVar Annotator: match by term: Developmental delay with or without intellectual impairment or behavioral abnormalities
ClinVar Annotator: match by term: Developmental delay with or without intellectual impairment or behavioral abnormalities | ClinVar Annotator: match by term: TAOK1-related condition
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES		 ClinVar
OMIM		 PMID:7768349 PMID:25741868 PMID:28492532 PMID:31230721 PMID:33565190 More... NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRL1 adhesion G protein-coupled receptor L1 IAGP ClinVar Annotator: match by term: ADGRL1-related condition | ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders OMIM
ClinVar		 PMID:25741868 PMID:29758562 PMID:30504930 PMID:35907405 NCBI chr19:14,147,743...14,206,169
Ensembl chr19:14,147,743...14,206,187 		JBrowse link
G ADGRL1-AS1 ADGRL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
ClinVar Annotator: match by term: ADGRL1-related condition | ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders		 ClinVar PMID:25741868 PMID:29758562 PMID:35907405 NCBI chr19:14,137,152...14,171,264
Ensembl chr19:14,137,086...14,171,268 		JBrowse link
developmental delay, hypotonia, and impaired language term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:35395208 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FBXW7-AS1 FBXW7 antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language ClinVar PMID:25741868 NCBI chr 4:152,337,674...152,338,096
Ensembl chr 4:152,337,655...152,338,098 		JBrowse link
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRCAP Snf2 related CREBBP activator protein IAGP ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities		 ClinVar
OMIM		 PMID:11522779 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 More... NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MORC2 MORC family CW-type zinc finger 2 IAGP ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy OMIM
ClinVar		 PMID:7964809 PMID:12601114 PMID:25741868 PMID:26497905 PMID:26659848 More... NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G NKAP NFKB activating protein IAGP ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ClinVar PMID:25741868 NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities | ClinVar Annotator: match by term: SPTBN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33390831 PMID:33847457 PMID:34211179 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SPTBN1-AS2 SPTBN1 antisense RNA 2 IAGP ClinVar Annotator: match by term: SPTBN1-related condition
ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities		 ClinVar PMID:25741868 NCBI chr 2:54,664,172...54,680,045 JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF1 ARF guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: ARFGEF1-related condition | ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures OMIM
ClinVar		 PMID:17640864 PMID:25741868 PMID:28492532 PMID:34113008 PMID:35782386 NCBI chr 8:67,173,511...67,343,781
Ensembl chr 8:67,173,511...67,343,781 		JBrowse link
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder		 ClinVar PMID:9536098 PMID:17576681 PMID:23033978 PMID:25741868 PMID:28492532 More... NCBI chr 6:78,867,551...78,979,411
Ensembl chr 6:78,867,551...78,946,440 		JBrowse link
G LOC129996745 ATAC-STARR-seq lymphoblastoid silent region 17346 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM
ClinVar Annotator: match by term: PHIP-related disorder		 ClinVar PMID:25741868 PMID:27900362 PMID:28492532 NCBI chr 6:79,077,972...79,078,141 JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 More... NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287 		JBrowse link
Developmental Delay, Language Impairment, and Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 IAGP ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities OMIM
ClinVar		 PMID:25741868 PMID:35047857 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ARPC4-TTLL3 ARPC4-TTLL3 readthrough IAGP ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities ClinVar PMID:25741868 PMID:35047857 NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129936816 ATAC-STARR-seq lymphoblastoid silent region 14408 IAGP ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome ClinVar PMID:26077850 PMID:33500254 NCBI chr 3:51,385,117...51,385,486 JBrowse link
G MANF mesencephalic astrocyte derived neurotrophic factor IAGP ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:26077850 PMID:33500254 NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397 		JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSX2 GS homeobox 2 IAGP ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:31412107 NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498 		JBrowse link
diphthamide deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 IAGP ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair ClinVar PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32595695 More... NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 IAGP ClinVar Annotator: match by term: EEF2-related condition ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		JBrowse link
G LOC126805726 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 IAGP ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 1:43,971,353...43,972,882 JBrowse link
G LOC130059901 ATAC-STARR-seq lymphoblastoid silent region 7967 IAGP ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair ClinVar PMID:25741868 NCBI chr17:2,041,525...2,041,614 JBrowse link
G LOC130063169 ATAC-STARR-seq lymphoblastoid active region 13746 IAGP ClinVar Annotator: match by term: EEF2-related condition ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:3,977,400...3,977,609 JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 IAGP
ISS		 ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
ClinVar Annotator: match by term: DPH1-related condition		 OMIM
ClinVar
MouseDO		 PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
diphthamide deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH2 diphthamide biosynthesis 2 IAGP ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 ClinVar
OMIM		 PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G LOC126805726 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 IAGP ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 1:43,971,353...43,972,882 JBrowse link
early-onset epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SETD1A SET domain containing 1A, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Epilepsy, early-onset, with or without developmental delay OMIM
ClinVar		 PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:28492532 More... NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664 		JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ASGR1 asialoglycoprotein receptor 1 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,173,431...7,179,370
Ensembl chr17:7,173,431...7,179,564 		JBrowse link
G ASGR2 asialoglycoprotein receptor 2 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,101,322...7,115,146
Ensembl chr17:7,101,322...7,115,700 		JBrowse link
G CLDN7 claudin 7 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,259,903...7,263,213
Ensembl chr17:7,259,903...7,263,983 		JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,243,591...7,251,978
Ensembl chr17:7,243,591...7,252,491 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,836 		JBrowse link
G DVL2 dishevelled segment polarity protein 2 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,225,342...7,234,517
Ensembl chr17:7,225,342...7,234,517 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar		 PMID:25741868 PMID:31690835 PMID:33547280 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,251,724...7,259,940
Ensembl chr17:7,251,416...7,259,940 		JBrowse link
G GABARAP GABA type A receptor-associated protein IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,240,008...7,242,449
Ensembl chr17:7,240,008...7,242,449 		JBrowse link
G GPS2 G protein pathway suppressor 2 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,312,661...7,315,360
Ensembl chr17:7,311,324...7,315,564 		JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,315,628...7,329,335
Ensembl chr17:7,315,628...7,329,393 		JBrowse link
G PHF23 PHD finger protein 23 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,235,038...7,240,828
Ensembl chr17:7,235,029...7,239,722 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257 		JBrowse link
G YBX2 Y-box binding protein 2 IAGP ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr17:7,288,263...7,294,639
Ensembl chr17:7,288,263...7,294,639 		JBrowse link
Forebrain Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRIPTO cripto, EGF-CFC family member IAGP ClinVar Annotator: match by term: Forebrain defects ClinVar PMID:11062482 PMID:12073012 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH3PXD2B SH3 and PX domains 2B IAGP
EXP		 ClinVar Annotator: match by term: Frank-Ter Haar syndrome
ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: SH3PXD2B-related condition
ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUX1 cut like homeobox 1 IAGP ClinVar Annotator: match by term: CUX1-related condition | ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30014507 NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958 		JBrowse link
G LOC126860126 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:101740358-101741557 IAGP ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development ClinVar PMID:25741868 NCBI chr 7:102,097,078...102,098,277 JBrowse link
G TAOK1 TAO kinase 1 IAGP ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development ClinVar PMID:25741868 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO Geleophysic dysplasia, ADMATSL2-related OMIA PMID:20862248 PMID:28158899 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B IAGP ClinVar Annotator: match by term: Global developmental delay with speech and behavioral abnormalities | ClinVar Annotator: match by term: TNRC6B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29463886 PMID:32152250 PMID:33004838 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		JBrowse link
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806798 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:124950809-124952008 IAGP ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies ClinVar PMID:12840224 PMID:25741868 PMID:27964749 PMID:36444493 NCBI chr 3:125,231,831...125,233,164 JBrowse link
G PMM1 phosphomannomutase 1 IAGP ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies ClinVar PMID:9070917 NCBI chr22:41,576,900...41,589,840
Ensembl chr22:41,576,900...41,589,871 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition OMIM
ClinVar		 PMID:12840224 PMID:25741868 PMID:27964749 PMID:28492532 PMID:36444493 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: GLOW SYNDROME
ClinVar Annotator: match by term: GLOW Syndrome
ClinVar Annotator: match by term: GLOW SYNDROME | ClinVar Annotator: match by term: GLOW Syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLS glutaminase IAGP ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine OMIM
ClinVar		 PMID:25741868 PMID:30970188 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552 		JBrowse link
G LOC129935269 ATAC-STARR-seq lymphoblastoid silent region 12187 IAGP ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine ClinVar PMID:25741868 NCBI chr 2:190,881,219...190,881,278 JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C18orf32 chromosome 18 open reading frame 32 IAGP ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 OMIM
ClinVar		 PMID:28492532 PMID:35107634 NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252 		JBrowse link
G RPL17-C18orf32 RPL17-C18orf32 readthrough IAGP ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 ClinVar PMID:28492532 PMID:35107634 NCBI chr18:49,481,178...49,492,465
Ensembl chr18:49,481,681...49,492,479 		JBrowse link
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTO FTO alpha-ketoglutarate dependent dioxygenase susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 More... NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar PMID:25741868 PMID:28492532 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome OMIM
ClinVar		 PMID:11836534 PMID:15456878 PMID:16357870 PMID:25741868 PMID:26912663 More... NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RALA RAS like proto-oncogene A IAGP ClinVar Annotator: match by term: RALA-related condition
ClinVar Annotator: match by term: Hiatt-Neu-Cooper neurodevelopmental syndrome		 OMIM
ClinVar		 PMID:11701921 PMID:15950903 PMID:15980073 PMID:25741868 PMID:28492532 More... NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,565...39,708,120 		JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADK adenosine kinase IAGP ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency		 ClinVar
OMIM		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963 		JBrowse link
G LOC102723439 uncharacterized LOC102723439 IAGP ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
ClinVar Annotator: match by term: ADK-related condition		 ClinVar PMID:21963049 PMID:25741868 PMID:26642971 PMID:28492532 NCBI chr10:74,506,498...74,529,324 JBrowse link
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 IAGP ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31155284 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G LOC130058166 ATAC-STARR-seq lymphoblastoid silent region 6986 IAGP ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development ClinVar PMID:25741868 PMID:28492532 NCBI chr16:1,474,771...1,474,980 JBrowse link
hypotonia, ataxia, and delayed development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBF3 EBF transcription factor 3 IAGP ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome
ClinVar Annotator: match by term: EBF3-related disorder | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome		 ClinVar
OMIM		 PMID:19627984 PMID:20300201 PMID:25741868 PMID:28017370 PMID:28017372 More... NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTBP1 C-terminal binding protein 1 IAGP ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
ClinVar Annotator: match by term: CTBP1-related condition
ClinVar Annotator: match by term: CTBP1-related condition | 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:29758562 More... NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTBP1-AS CTBP1 antisense RNA IAGP ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
ClinVar Annotator: match by term: CTBP1-related condition
ClinVar Annotator: match by term: CTBP1-related condition | ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome		 ClinVar PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29758562 More... NCBI chr 4:1,210,120...1,218,591
Ensembl chr 4:1,210,120...1,218,591 		JBrowse link
Immunodeficiency 78 with Autoimmunity and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPP2 tripeptidyl peptidase 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 78 with autoimmunity and developmental delay | ClinVar Annotator: match by term: TPP2-related condition OMIM
ClinVar		 PMID:25414442 PMID:25525876 PMID:25741868 PMID:28492532 PMID:30533531 More... NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		JBrowse link
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia
ClinVar Annotator: match by term: NFE2L2-related condition
ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition		 OMIM
ClinVar		 PMID:24130096 PMID:24728327 PMID:25741868 PMID:28492532 PMID:29018201 More... NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 IAGP ClinVar Annotator: match by term: Keppen-Lubinsky syndrome
ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome		 OMIM
ClinVar		 PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345 		JBrowse link
G KCNJ6-AS1 KCNJ6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Keppen-Lubinsky syndrome
ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome		 ClinVar PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 NCBI chr21:37,518,636...37,740,702
Ensembl chr21:37,644,927...37,740,702 		JBrowse link
KINSSHIP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF3 ALF transcription elongation factor 3 IAGP
ISS		 ClinVar Annotator: match by term: KINSSHIP syndrome
ClinVar Annotator: match by term: AFF3-related condition | ClinVar Annotator: match by term: KINSSHIP syndrome
OMIM:619297		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:29758562 PMID:31388108 PMID:33961779 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
KOHLSCHUTTER-TONZ SYNDROME-LIKE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SATB1 SATB homeobox 1 IAGP ClinVar Annotator: match by term: DEN HOED-DE BOER-VOISIN SYNDROME | ClinVar Annotator: match by term: Kohlschutter-Tonz syndrome-like OMIM
ClinVar		 PMID:15930900 PMID:16371359 PMID:17652321 PMID:25741868 PMID:27462121 More... NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
KURY-ISIDOR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated deubiquitinase 1 IAGP ClinVar Annotator: match by term: Kury-Isidor syndrome ClinVar
OMIM		 PMID:16341802 PMID:19197335 PMID:21874000 PMID:23684012 PMID:24970262 More... NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G PHF7 PHD finger protein 7 IAGP ClinVar Annotator: match by term: Kury-Isidor syndrome ClinVar PMID:25741868 PMID:29758562 NCBI chr 3:52,410,660...52,423,641
Ensembl chr 3:52,410,660...52,423,641 		JBrowse link
Lamb-Shaffer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129390412 MPRA-validated peak1610 silencer IAGP ClinVar Annotator: match by term: Lamb-Shaffer syndrome ClinVar PMID:23220431 NCBI chr12:23,812,201...23,812,401 JBrowse link
G LOC129390413 MPRA-validated peak1611 silencer IAGP ClinVar Annotator: match by term: Lamb-Shaffer syndrome ClinVar PMID:23220431 PMID:23498568 NCBI chr12:23,848,621...23,848,821 JBrowse link
G LOC129390414 MPRA-validated peak1613 silencer IAGP ClinVar Annotator: match by term: Lamb-Shaffer syndrome ClinVar PMID:23220431 PMID:23498568 NCBI chr12:23,852,741...23,852,941 JBrowse link
G LOC132090076 Neanderthal introgressed variant-containing enhancer experimental_26611 IAGP ClinVar Annotator: match by term: Lamb-Shaffer syndrome ClinVar PMID:22290657 NCBI chr12:23,538,642...23,538,811 JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP ClinVar Annotator: match by term: Lamb-Shaffer syndrome
ClinVar Annotator: match by term: Lamb-Shaffer syndrome | ClinVar Annotator: match by term: SOX5-related condition		 ClinVar
OMIM		 PMID:22290657 PMID:23220431 PMID:23498568 PMID:25741868 PMID:26111154 More... NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544 		JBrowse link
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP ClinVar Annotator: match by term: EIF2AK2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32197074 PMID:33236446 PMID:33553620 More... NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
Li-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GON7 GON7 subunit of KEOPS complex IAGP ClinVar Annotator: match by term: Li-Campeau syndrome ClinVar PMID:33340455 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: Li-Campeau syndrome OMIM
ClinVar		 PMID:25741868 PMID:33340455 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
lissencephaly 7 with cerebellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5 cyclin dependent kinase 5 IAGP ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia ClinVar
OMIM		 PMID:25560765 PMID:25741868 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897 		JBrowse link
Luscan-Lumish Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF9 kinesin family member 9 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,227,998...47,282,799
Ensembl chr 3:47,227,998...47,283,451 		JBrowse link
G KIF9-AS1 KIF9 antisense RNA 1 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar NCBI chr 3:47,164,370...47,244,116
Ensembl chr 3:47,164,024...47,246,601 		JBrowse link
G KLHL18 kelch like family member 18 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,282,944...47,346,816
Ensembl chr 3:47,282,917...47,346,816 		JBrowse link
G LOC129936664 ATAC-STARR-seq lymphoblastoid silent region 14305 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar NCBI chr 3:47,163,406...47,163,715 JBrowse link
G LOC129936665 ATAC-STARR-seq lymphoblastoid silent region 14306 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:20864444 PMID:23160955 PMID:25741868 PMID:26084711 PMID:26467025 More... NCBI chr 3:47,163,766...47,164,515 JBrowse link
G LOC129936666 ATAC-STARR-seq lymphoblastoid silent region 14307 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar NCBI chr 3:47,164,566...47,164,615 JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,435 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP 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 More... NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNA4 potassium voltage-gated channel subfamily A member 4 IAGP ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr11:30,009,730...30,017,030
Ensembl chr11:30,009,730...30,017,030 		JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARS1 cysteinyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30824121 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CARS1-AS1 CARS1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome ClinVar PMID:25741868 NCBI chr11:3,029,394...3,041,260
Ensembl chr11:3,029,009...3,041,260 		JBrowse link
G LOC126861115 BRD4-independent group 4 enhancer GRCh37_chr11:3061281-3062480 IAGP ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome ClinVar PMID:25741868 NCBI chr11:3,040,051...3,041,250 JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUSAP1 nucleolar and spindle associated protein 1 IAGP ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr15:41,332,881...41,381,046
Ensembl chr15:41,320,794...41,381,050 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay		 ClinVar
OMIM		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFER growth factor, augmenter of liver regeneration IAGP
EXP		 ClinVar Annotator: match by term: GFER-related condition
ClinVar Annotator: match by term: GFER-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency
ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749 		JBrowse link
G LOC130058203 ATAC-STARR-seq lymphoblastoid silent region 7014 IAGP ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency
ClinVar Annotator: match by term: GFER-related condition
ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		 ClinVar PMID:16199547 PMID:25326635 PMID:25741868 PMID:26757139 PMID:28155230 More... NCBI chr16:1,983,945...1,984,484 JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLF2 SMC5-SMC6 complex localization factor 2 IAGP ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar		 PMID:36333305 NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134 		JBrowse link
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED11 mediator complex subunit 11 IAGP ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:36001086 NCBI chr17:4,731,428...4,733,607
Ensembl chr17:4,731,428...4,733,608 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INTS8 integrator complex subunit 8 IAGP ClinVar Annotator: match by term: INTS8-related condition
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOC2 exocyst complex component 2 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar		 PMID:25741868 PMID:32639540 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139 		JBrowse link
G HUS1B HUS1 checkpoint clamp component B IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chr 6:655,939...657,100
Ensembl chr 6:655,939...657,100 		JBrowse link
G LOC126859547 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:563721-564920 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar PMID:32639540 NCBI chr 6:563,721...564,920 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM276-ZFTRAF1 TMEM276-ZFTRAF1 readthrough IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chr 8:144,449,582...144,465,701
Ensembl chr 8:144,449,582...144,465,430 		JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay
ClinVar Annotator: match by term: UBE4A-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:27431290 PMID:33420346 NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,600...118,399,211 		JBrowse link
G ZFTRAF1 zinc finger TRAF-type containing 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chr 8:144,449,582...144,462,871
Ensembl chr 8:144,449,582...144,462,871 		JBrowse link
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH5 diphthamide biosynthesis 5 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM
ClinVar		 PMID:25741868 PMID:35482014 NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130002869 ATAC-STARR-seq lymphoblastoid active region 29216 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia ClinVar NCBI chr 9:132,079,764...132,080,043 JBrowse link
G MED27 mediator complex subunit 27 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar		 PMID:33443317 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		JBrowse link
Nizon-Isidor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Nizon-Isidor syndrome ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G MED12L mediator complex subunit 12L IAGP ClinVar Annotator: match by term: MED12L-related condition | ClinVar Annotator: match by term: Nizon-Isidor syndrome OMIM
ClinVar		 PMID:25741868 PMID:31155615 PMID:35802134 NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072 		JBrowse link
G P2RY12 purinergic receptor P2Y12 IAGP ClinVar Annotator: match by term: Nizon-Isidor syndrome
ClinVar Annotator: match by term: MED12L-related condition | ClinVar Annotator: match by term: Nizon-Isidor syndrome		 ClinVar PMID:25741868 PMID:31155615 PMID:35802134 NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753 		JBrowse link
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130001952 ATAC-STARR-seq lymphoblastoid active region 28508 IAGP ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay
ClinVar Annotator: match by term: NTRK2-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:84,702,128...84,702,217 JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP
EXP		 ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay
ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15494731 PMID:17576681 PMID:25741868 PMID:27884935 More... NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
Ogden syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130068840 ATAC-STARR-seq lymphoblastoid silent region 21075 IAGP ClinVar Annotator: match by term: Ogden syndrome ClinVar PMID:25741868 NCBI chr  X:153,934,727...153,935,306 JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Ogden syndrome ClinVar
OMIM		 PMID:18414213 PMID:21700266 PMID:23020937 PMID:24431331 PMID:25099252 More... NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 IAGP
EXP		 ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase IAGP ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ClinVar PMID:25741868 PMID:30250212 PMID:37046037 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPB2 COPI coat complex subunit beta 2 IAGP ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay OMIM
ClinVar		 PMID:25741868 PMID:29036432 PMID:34450031 PMID:37734708 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736 		JBrowse link
osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126862255 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:101567313-101568512 IAGP ClinVar Annotator: match by term: LRRK1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr15:101,027,108...101,028,307 JBrowse link
G LRRK1 leucine rich repeat kinase 1 IAGP ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia
ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia		 OMIM
ClinVar		 PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 More... NCBI chr15:100,919,357...101,078,257
Ensembl chr15:100,919,327...101,078,257 		JBrowse link
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861106 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:135106330-135107529 IAGP ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
ClinVar Annotator: match by term: TUBGCP2-related condition
ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ClinVar Annotator: match by term: TUBGCP2-related condition		 ClinVar PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr10:133,292,826...133,294,025 JBrowse link
G TUBGCP2 tubulin gamma complex component 2 IAGP ClinVar Annotator: match by term: TUBGCP2-related condition
ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ClinVar Annotator: match by term: TUBGCP2-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126862763 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:55982687-55983886 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,315,455...58,316,654 JBrowse link
G LOC130062568 ATAC-STARR-seq lymphoblastoid silent region 9483 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7		 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,044,311...58,044,860 JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay		 OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
Pierpont syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112935911 Sharpr-MPRA regulatory region 5683 IAGP ClinVar Annotator: match by term: Pierpont syndrome ClinVar PMID:28492532 PMID:28574232 NCBI chr 3:177,039,921...177,040,215 JBrowse link
G LOC126806878 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:176755168-176756367 IAGP ClinVar Annotator: match by term: Pierpont syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23160955 PMID:25741868 PMID:26467025 More... NCBI chr 3:177,037,380...177,038,579 JBrowse link
G LOC129937938 ATAC-STARR-seq lymphoblastoid active region 20835 IAGP ClinVar Annotator: match by term: Pierpont syndrome ClinVar PMID:28492532 PMID:28574232 NCBI chr 3:177,057,994...177,058,053 JBrowse link
G LOC129937939 ATAC-STARR-seq lymphoblastoid active region 20836 IAGP ClinVar Annotator: match by term: Pierpont syndrome ClinVar PMID:28492532 PMID:28574232 NCBI chr 3:177,058,094...177,058,163 JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pierpont syndrome
OMIM:602342
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome		 ClinVar
MouseDO
CTD
OMIM		 PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 More... NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TBL1XR1-AS1 TBL1XR1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pierpont syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19760657 PMID:23160955 More... NCBI chr 3:177,037,405...177,047,923
Ensembl chr 3:177,037,405...177,048,141 		JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAH phenylalanine hydroxylase IAGP ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2CL ALS2 C-terminal like IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,668,995...46,693,679
Ensembl chr 3:46,668,995...46,693,704 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,918,842...48,986,382
Ensembl chr 3:48,918,821...48,986,382 		JBrowse link
G ARIH2OS ARIH2 opposite strand lncRNA IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,917,788...48,919,385
Ensembl chr 3:48,917,765...48,918,829 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G CAMP cathelicidin antimicrobial peptide IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,223,495...48,225,485
Ensembl chr 3:48,223,347...48,225,491 		JBrowse link
G CCDC12 coiled-coil domain containing 12 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,921,730...46,981,994
Ensembl chr 3:46,916,634...46,982,010 		JBrowse link
G CCDC51 coiled-coil domain containing 51 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,432,173...48,446,652
Ensembl chr 3:48,432,164...48,440,456 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CCR9 C-C motif chemokine receptor 9 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,886,064...45,903,174
Ensembl chr 3:45,884,425...45,903,174 		JBrowse link
G CCRL2 C-C motif chemokine receptor like 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,407,259...46,409,523
Ensembl chr 3:46,407,166...46,412,997 		JBrowse link
G CDC25A cell division cycle 25A IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417 		JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CSPG5 chondroitin sulfate proteoglycan 5 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,562,238...47,580,240
Ensembl chr 3:47,562,238...47,580,792 		JBrowse link
G CXCR6 C-X-C motif chemokine receptor 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,940,915...45,948,351
Ensembl chr 3:45,940,933...45,948,351 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		JBrowse link
G ELP6 elongator acetyltransferase complex subunit 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,495,640...47,513,712
Ensembl chr 3:47,495,640...47,513,712 		JBrowse link
G FBXW12 F-box and WD repeat domain containing 12 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,372,219...48,394,725
Ensembl chr 3:48,372,219...48,401,259 		JBrowse link
G FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,917,903...45,995,824
Ensembl chr 3:45,917,903...45,995,824 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,688,003...48,717,221
Ensembl chr 3:48,688,003...48,740,353 		JBrowse link
G KIF9 kinesin family member 9 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,227,998...47,282,799
Ensembl chr 3:47,227,998...47,283,451 		JBrowse link
G KLHL18 kelch like family member 18 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,282,944...47,346,816
Ensembl chr 3:47,282,917...47,346,816 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LIMD1 LIM domain containing 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,594,751...45,686,341
Ensembl chr 3:45,555,394...45,686,341 		JBrowse link
G LOC129936736 ATAC-STARR-seq lymphoblastoid active region 19853 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:9536098 PMID:17576681 PMID:24656866 PMID:25471517 PMID:25741868 More... NCBI chr 3:49,104,529...49,104,718 JBrowse link
G LRRC2 leucine rich repeat containing 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,515,385...46,566,302
Ensembl chr 3:46,515,385...46,606,948 		JBrowse link
G LTF lactotransferrin IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,435,645...46,485,234
Ensembl chr 3:46,435,645...46,485,234 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MAP4 microtubule associated protein 4 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,850,695...48,088,848
Ensembl chr 3:47,850,690...48,089,272 		JBrowse link
G MIR191 microRNA 191 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,020,618...49,020,709
Ensembl chr 3:49,020,618...49,020,709 		JBrowse link
G MIR6890 microRNA 6890 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,099,854...49,099,914
Ensembl chr 3:49,099,854...49,099,914 		JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G NCKIPSD NCK interacting protein with SH3 domain IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,673,844...48,685,915
Ensembl chr 3:48,673,844...48,686,364 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,288,402...48,301,367
Ensembl chr 3:48,290,722...48,301,685 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,517,684...48,563,136
Ensembl chr 3:48,517,684...48,562,015 		JBrowse link
G PLXNB1 plexin B1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,403,854...48,430,310
Ensembl chr 3:48,403,854...48,430,086 		JBrowse link
G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,744,591...48,847,874
Ensembl chr 3:48,744,597...48,847,874 		JBrowse link
G PRSS50 serine protease 50 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,712,117...46,717,869
Ensembl chr 3:46,712,117...46,717,869 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,435 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130 		JBrowse link
G QRICH1 glutamine rich 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363 		JBrowse link
G RTP3 receptor transporter protein 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,497,976...46,500,950
Ensembl chr 3:46,494,611...46,500,950 		JBrowse link
G SACM1L SAC1 like phosphatidylinositide phosphatase IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,689,396...45,745,409
Ensembl chr 3:45,689,056...45,745,412 		JBrowse link
G SCAP SREBF chaperone IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,413,681...47,477,127
Ensembl chr 3:47,413,681...47,477,126 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SHISA5 shisa family member 5 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,467,876...48,504,810
Ensembl chr 3:48,467,798...48,504,826 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
G SLC26A6 solute carrier family 26 member 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,755,449...45,796,536
Ensembl chr 3:45,755,449...45,796,574 		JBrowse link
G SMARCC1 SWI/SNF related BAF chromatin remodeling complex subunit C1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,585,269...47,781,893
Ensembl chr 3:47,585,269...47,782,106 		JBrowse link
G SPINK8 serine peptidase inhibitor Kazal type 8 (putative) IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,306,842...48,333,661
Ensembl chr 3:48,306,842...48,333,661 		JBrowse link
G TMA7 translation machinery associated 7 homolog IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,440,257...48,444,208
Ensembl chr 3:48,440,257...48,444,208 		JBrowse link
G TMEM89 transmembrane protein 89 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,620,759...48,621,769
Ensembl chr 3:48,620,759...48,621,769 		JBrowse link
G TMIE transmembrane inner ear IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UCN2 urocortin 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976 		JBrowse link
G WDR6 WD repeat domain 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,007,391...49,015,951
Ensembl chr 3:49,007,062...49,015,953 		JBrowse link
G XCR1 X-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,017,007...46,085,844
Ensembl chr 3:46,016,990...46,085,825 		JBrowse link
G ZNF589 zinc finger protein 589 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,241,104...48,270,990
Ensembl chr 3:48,241,100...48,299,253 		JBrowse link
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OCLN occludin IAGP ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 ClinVar
OMIM		 PMID:18414213 PMID:19012351 PMID:20727516 PMID:25558065 PMID:25741868 More... NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
Pseudo-TORCH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP18 ubiquitin specific peptidase 18 IAGP ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2
ClinVar Annotator: match by term: USP18-related condition		 ClinVar
OMIM		 PMID:12833411 PMID:25741868 PMID:27325888 PMID:28492532 PMID:31940699 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397 		JBrowse link
Pseudo-TORCH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAT2 signal transducer and activator of transcription 2 IAGP ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications ClinVar PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More... NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES
ClinVar Annotator: match by term: FARSB-related condition
ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1		 OMIM
ClinVar		 PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More... NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP ClinVar Annotator: match by term: FARSA-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 OMIM
ClinVar		 PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614 PMID:35918773 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G FARSA-AS1 FARSA antisense RNA 1 IAGP ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 ClinVar PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614 NCBI chr19:12,930,522...12,933,296
Ensembl chr19:12,930,522...12,933,296 		JBrowse link
Roifman-Chitayat Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic		 OMIM
CTD
ClinVar		 PMID:19863561 PMID:29180244 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G LOC126805612 MED14-independent group 3 enhancer GRCh37_chr1:9778914-9780113 IAGP ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29921932 NCBI chr 1:9,718,285...9,720,237 JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP
EXP		 ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 More... NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
Short Stature, Developmental Delay, and Congenital Heart Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806684 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:53261945-53263144 IAGP ClinVar Annotator: match by term: Transketolase deficiency
ClinVar Annotator: match by term: TKT-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:53,227,929...53,229,128 JBrowse link
G TKT transketolase IAGP ClinVar Annotator: match by term: Transketolase deficiency
ClinVar Annotator: match by term: TKT-related condition | ClinVar Annotator: match by term: Transketolase deficiency		 OMIM
ClinVar		 PMID:25741868 PMID:27259054 PMID:28492532 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052 		JBrowse link
SHORT STATURE-MICROGNATHIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARCN1 archain 1 IAGP ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
ClinVar Annotator: match by term: ARCN1-related condition | ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		 OMIM
ClinVar		 PMID:25741868 PMID:27476655 PMID:28492532 PMID:31075182 PMID:33154040 More... NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G IFT46 intraflagellar transport 46 IAGP ClinVar Annotator: match by term: ARCN1-related condition ClinVar PMID:28492532 NCBI chr11:118,544,543...118,576,898
Ensembl chr11:118,544,528...118,572,970 		JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FITM2 fat storage inducing transmembrane protein 2 IAGP ClinVar Annotator: match by term: FITM2-related condition | ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr20:44,302,840...44,311,202
Ensembl chr20:44,302,840...44,311,202 		JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRNT1 tRNA nucleotidyl transferase 1 IAGP ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay OMIM
ClinVar		 PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
Snijders Blok-Fisher Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU3F3 POU class 3 homeobox 3 IAGP ClinVar Annotator: match by term: Snijders blok-fisher syndrome OMIM
ClinVar		 PMID:25741868 PMID:30712878 PMID:31303265 NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574 		JBrowse link
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CORO7-PAM16 CORO7-PAM16 readthrough IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type
ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type		 ClinVar PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type
ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type		 ClinVar
OMIM		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP
EXP		 ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 More... NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G GPLD1 glycosylphosphatidylinositol specific phospholipase D1 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 More... NCBI chr 6:24,423,969...24,495,287
Ensembl chr 6:24,424,565...24,495,205 		JBrowse link
G KAAG1 kidney associated DCDC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 6:24,356,903...24,358,285
Ensembl chr 6:24,356,903...24,358,285 		JBrowse link
G LOC129995978 ATAC-STARR-seq lymphoblastoid silent region 16989 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 More... NCBI chr 6:24,494,975...24,495,364 JBrowse link
G LOC129995983 ATAC-STARR-seq lymphoblastoid silent region 16992 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:16542398 PMID:34882073 NCBI chr 6:24,522,454...24,522,503 JBrowse link
G MRS2 magnesium transporter MRS2 IAGP ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr 6:24,402,936...24,426,190
Ensembl chr 6:24,402,908...24,426,194 		JBrowse link
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TKFC triokinase and FMN cyclase IAGP ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32004446 NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295 		JBrowse link
Turnpenny-Fry Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD3 CDGSH iron sulfur domain 3 IAGP ClinVar Annotator: match by term: Turnpenny-fry syndrome
ClinVar Annotator: match by term: PCGF2-related condition
ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:38,730,341...38,735,605
Ensembl chr17:38,730,341...38,735,605 		JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP ClinVar Annotator: match by term: Turnpenny-fry syndrome
ClinVar Annotator: match by term: PCGF2-related condition
ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome		 OMIM
ClinVar		 PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:28492532 More... NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
VERVERI-BRADY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G QRICH1 glutamine rich 1 IAGP ClinVar Annotator: match by term: QRICH1-related condition
ClinVar Annotator: match by term: QRICH1-related condition | ClinVar Annotator: match by term: Ververi-Brady syndrome		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28692176 PMID:30281152 PMID:33009816 More... NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363 		JBrowse link
WEISS-KRUSZKA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL807761.4 novel transcript IAGP ClinVar Annotator: match by term: Weiss-kruszka syndrome
ClinVar Annotator: match by term: Weiss-Kruszka syndrome | ClinVar Annotator: match by term: ZNF462-related condition		 ClinVar PMID:25741868 NCBI chr 9:106,974,833...107,102,988
Ensembl chr 9:106,974,833...107,102,988 		JBrowse link
G ZNF462 zinc finger protein 462 IAGP ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: Weiss-Kruszka syndrome | ClinVar Annotator: match by term: ZNF462-related condition
ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: ZNF462-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28513610 PMID:31361404 PMID:32543299 More... NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634 		JBrowse link
Zaki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNG12-AS1 GNG12, DIRAS3 and WLS antisense RNA 1 IAGP ClinVar Annotator: match by term: Zaki syndrome
ClinVar Annotator: match by term: WLS-related condition		 ClinVar PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 1:67,832,288...68,202,987
Ensembl chr 1:67,832,193...68,202,987 		JBrowse link
G WLS Wnt ligand secretion mediator IAGP
ISS		 ClinVar Annotator: match by term: WLS-related condition
ClinVar Annotator: match by term: Zaki syndrome
OMIM:619648		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121157
    Developmental Disease 43255
      Neurodevelopmental Disorders 16966
        Developmental Disabilities 1469
          3MC syndrome 3 5
          AGAT deficiency 36
          AMED syndrome 2
          Abuse Dwarfism Syndrome 0
          Al Gazali Sabrinathan Nair Syndrome 0
          Arboleda-Tham syndrome 1
          Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
          Bagatelle Cassidy Syndrome 0
          Bainbridge-Ropers syndrome 1
          Beaulieu-Boycott-Innes Syndrome 2
          Beck-Fahrner Syndrome 1
          Bosch-Boonstra-Schaaf optic atrophy syndrome 5
          CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 3
          CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM 2
          CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY 1
          Cerebellar Atrophy with Seizures and Variable Developmental Delay 5
          Chitayat Moore Del Bigio Syndrome 0
          Chitty Hall Webb Syndrome 0
          Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
          Cohen syndrome 46
          Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
          Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
          DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
          DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES 2
          DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS 2
          DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES 1
          DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY 2
          DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES 2
          DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES 1
          DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 3
          DeSanto-Shinawi syndrome 3
          Der Kaloustian Mcintosh Silver Syndrome 0
          Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
          Developmental Delay with or without Dysmorphic Facies and Autism 2
          Developmental Delay, Language Impairment, and Ocular Abnormalities 2
          Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 2
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
          Faundes-Banka Syndrome 15
          Forebrain Defects 1
          Forsythe-Wakeling Syndrome 0
          Frank-Ter Haar syndrome 1
          GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 3
          GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES 2
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 3
          Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
          Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 2
          Glycosylphosphatidylinositol Biosynthesis Defect 25 2
          Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
          Grubben de Cock Borghgraef Syndrome 0
          HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME 1
          HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 2
          HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 2
          Heyn-Sproul-Jackson Syndrome 1
          IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
          Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
          KINSSHIP syndrome 1
          KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
          KURY-ISIDOR SYNDROME 2
          Keppen-Lubinsky Syndrome 2
          LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
          Lamb-Shaffer Syndrome 5
          Li-Campeau Syndrome 2
          Luscan-Lumish Syndrome 8
          MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 3
          Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
          Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
          Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
          Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 3
          Mosaic Variegated Aneuploidy Syndrome 5 1
          NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
          NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY 3
          Nizon-Isidor Syndrome 3
          Non-Lissencephalic Cortical Dysplasia 0
          OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 1
          Obesity, Hyperphagia, and Developmental Delay 2
          Ogden syndrome 2
          Oliver-McFarlane syndrome 1
          Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 1
          Partington Anderson Syndrome 0
          Periventricular Nodular Heterotopia 7 3
          Pierpont syndrome 6
          Pseudo-TORCH Syndrome + 3
          Rajab Interstitial Lung Disease with Brain Calcifications + 3
          Refsum Disease with Increased Pipecolic Acidemia 0
          Roifman-Chitayat Syndrome 3
          SHORT STATURE-MICROGNATHIA SYNDROME 2
          Short Stature, Developmental Delay, and Congenital Heart Defects 2
          Siddiqi syndrome 1
          Snijders Blok-Fisher Syndrome 1
          Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
          TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME 1
          Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
          Turnpenny-Fry Syndrome 2
          Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
          VERVERI-BRADY SYNDROME 1
          WEISS-KRUSZKA SYNDROME 2
          Zaki syndrome 2
          brachycephaly, trichomegaly, and developmental delay 1
          cerebellar hypoplasia + 119
          cerebellofaciodental syndrome 1
          chromosome 13q14 deletion syndrome 531
          chromosome 17p13.3 duplication syndrome 11
          chromosome 3q29 microdeletion syndrome 116
          chromosome Xp11.23-p11.22 duplication syndrome 0
          congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 3
          congenital limbs-face contractures-hypotonia-developmental delay syndrome 2
          developmental delay, hypotonia, and impaired language 2
          developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 0
          diphthamide deficiency syndrome + 8
          early-onset epilepsy 2 1
          hypermethioninemia due to adenosine kinase deficiency 2
          hypotonia, ataxia, and delayed development syndrome 1
          microcephaly, seizures, and developmental delay 2
          osteosclerotic metaphyseal dysplasia 2
          pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 2
          sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
          spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 2
          succinic semialdehyde dehydrogenase deficiency 7
Path 2
Term Annotations click to browse term
  disease 121157
    disease of anatomical entity 111928
      nervous system disease 58678
        central nervous system disease 40438
          brain disease 37917
            disease of mental health 31003
              Neurodevelopmental Disorders 16966
                Developmental Disabilities 1469
                  3MC syndrome 3 5
                  AGAT deficiency 36
                  AMED syndrome 2
                  Abuse Dwarfism Syndrome 0
                  Al Gazali Sabrinathan Nair Syndrome 0
                  Arboleda-Tham syndrome 1
                  Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
                  Bagatelle Cassidy Syndrome 0
                  Bainbridge-Ropers syndrome 1
                  Beaulieu-Boycott-Innes Syndrome 2
                  Beck-Fahrner Syndrome 1
                  Bosch-Boonstra-Schaaf optic atrophy syndrome 5
                  CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 3
                  CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM 2
                  CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY 1
                  Cerebellar Atrophy with Seizures and Variable Developmental Delay 5
                  Chitayat Moore Del Bigio Syndrome 0
                  Chitty Hall Webb Syndrome 0
                  Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
                  Cohen syndrome 46
                  Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
                  Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 0
                  DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
                  DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES 2
                  DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS 2
                  DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES 1
                  DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY 2
                  DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES 2
                  DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES 1
                  DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 3
                  DeSanto-Shinawi syndrome 3
                  Der Kaloustian Mcintosh Silver Syndrome 0
                  Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
                  Developmental Delay with or without Dysmorphic Facies and Autism 2
                  Developmental Delay, Language Impairment, and Ocular Abnormalities 2
                  Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 2
                  Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
                  Faundes-Banka Syndrome 15
                  Forebrain Defects 1
                  Forsythe-Wakeling Syndrome 0
                  Frank-Ter Haar syndrome 1
                  GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 3
                  GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES 2
                  GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 3
                  Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
                  Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 2
                  Glycosylphosphatidylinositol Biosynthesis Defect 25 2
                  Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
                  Grubben de Cock Borghgraef Syndrome 0
                  HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME 1
                  HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 2
                  HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 2
                  Heyn-Sproul-Jackson Syndrome 1
                  IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
                  Immunodeficiency 78 with Autoimmunity and Developmental Delay 1
                  KINSSHIP syndrome 1
                  KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
                  KURY-ISIDOR SYNDROME 2
                  Keppen-Lubinsky Syndrome 2
                  LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
                  Lamb-Shaffer Syndrome 5
                  Li-Campeau Syndrome 2
                  Luscan-Lumish Syndrome 8
                  MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 3
                  Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
                  Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                  Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
                  Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 3
                  Mosaic Variegated Aneuploidy Syndrome 5 1
                  NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY 3
                  Nizon-Isidor Syndrome 3
                  Non-Lissencephalic Cortical Dysplasia 0
                  OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 1
                  Obesity, Hyperphagia, and Developmental Delay 2
                  Ogden syndrome 2
                  Oliver-McFarlane syndrome 1
                  Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 1
                  Partington Anderson Syndrome 0
                  Periventricular Nodular Heterotopia 7 3
                  Pierpont syndrome 6
                  Pseudo-TORCH Syndrome + 3
                  Rajab Interstitial Lung Disease with Brain Calcifications + 3
                  Refsum Disease with Increased Pipecolic Acidemia 0
                  Roifman-Chitayat Syndrome 3
                  SHORT STATURE-MICROGNATHIA SYNDROME 2
                  Short Stature, Developmental Delay, and Congenital Heart Defects 2
                  Siddiqi syndrome 1
                  Snijders Blok-Fisher Syndrome 1
                  Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 0
                  TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME 1
                  Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 0
                  Turnpenny-Fry Syndrome 2
                  Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
                  VERVERI-BRADY SYNDROME 1
                  WEISS-KRUSZKA SYNDROME 2
                  Zaki syndrome 2
                  brachycephaly, trichomegaly, and developmental delay 1
                  cerebellar hypoplasia + 119
                  cerebellofaciodental syndrome 1
                  chromosome 13q14 deletion syndrome 531
                  chromosome 17p13.3 duplication syndrome 11
                  chromosome 3q29 microdeletion syndrome 116
                  chromosome Xp11.23-p11.22 duplication syndrome 0
                  congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 3
                  congenital limbs-face contractures-hypotonia-developmental delay syndrome 2
                  developmental delay, hypotonia, and impaired language 2
                  developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 0
                  diphthamide deficiency syndrome + 8
                  early-onset epilepsy 2 1
                  hypermethioninemia due to adenosine kinase deficiency 2
                  hypotonia, ataxia, and delayed development syndrome 1
                  microcephaly, seizures, and developmental delay 2
                  osteosclerotic metaphyseal dysplasia 2
                  pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 2
                  sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
                  spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 2
                  succinic semialdehyde dehydrogenase deficiency 7
paths to the root