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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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show annotations for term's descendants           Sort by:
Developmental Disabilities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aar2 AAR2 splicing factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936561:4,709,351...4,729,849
Ensembl chrNW_004936561:4,709,402...4,729,907 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936492:407,482...452,538
Ensembl chrNW_004936492:407,482...452,537 		JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936641:700,218...736,875
Ensembl chrNW_004936641:700,187...736,941 		JBrowse link
G Actl6a actin like 6A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28649782 NCBI chrNW_004936566:3,577,412...3,587,182
Ensembl chrNW_004936566:3,573,974...3,595,534 		JBrowse link
G Actl6b actin like 6B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chrNW_004936543:683,301...696,485
Ensembl chrNW_004936543:683,039...696,508 		JBrowse link
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 More... NCBI chrNW_004936488:4,196,977...4,211,552 JBrowse link
G Adap2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:2,767,489...2,790,080
Ensembl chrNW_004936538:2,765,596...2,790,055 		JBrowse link
G Adgrl1 adhesion G protein-coupled receptor L1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:35907405 NCBI chrNW_004936659:2,794,520...2,822,795
Ensembl chrNW_004936659:2,794,520...2,822,848 		JBrowse link
G Adnp activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chrNW_004936514:3,855,113...3,883,036
Ensembl chrNW_004936514:3,855,672...3,885,718 		JBrowse link
G Agtpbp1 ATP/GTP binding carboxypeptidase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936680:1,065,375...1,240,909
Ensembl chrNW_004936680:1,065,937...1,240,875 		JBrowse link
G Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chrNW_004936474:11,824,692...11,846,355
Ensembl chrNW_004936474:11,824,697...11,876,817 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15322546 PMID:23532844 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936526:6,944,056...7,201,226
Ensembl chrNW_004936526:6,944,005...7,200,583 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799 		JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936562:2,493,823...2,676,868
Ensembl chrNW_004936562:2,493,774...2,676,912 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28492532 PMID:32552793 NCBI chrNW_004936704:1,092,180...1,111,722
Ensembl chrNW_004936704:1,099,816...1,113,887 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21782149 PMID:24088041 PMID:25125236 PMID:25413698 PMID:25464108 More... NCBI chrNW_004936641:569,002...661,935
Ensembl chrNW_004936641:627,398...661,137 		JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936722:851,182...859,238
Ensembl chrNW_004936722:851,917...859,052 		JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 NCBI chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975 		JBrowse link
G Arfgap1 ARF GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20805988 NCBI chrNW_004936514:10,627,700...10,641,157
Ensembl chrNW_004936514:10,627,639...10,640,869 		JBrowse link
G Arfgef1 ARF guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:34113008 NCBI chrNW_004936496:6,807,388...6,914,960
Ensembl chrNW_004936496:6,807,403...6,914,987 		JBrowse link
G Arfgef2 ARF guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936514:5,172,752...5,262,823
Ensembl chrNW_004936514:5,172,584...5,262,836 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:17893116 PMID:18615734 PMID:23033978 PMID:25678704 PMID:25741868 More... NCBI chrNW_004936635:3,817,034...3,956,928
Ensembl chrNW_004936635:3,816,606...3,960,190 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741885 NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936614:1,072,263...1,252,573
Ensembl chrNW_004936614:1,072,260...1,252,283 		JBrowse link
G Arl14ep ARF like GTPase 14 effector protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004936533:7,322,297...7,328,478
Ensembl chrNW_004936533:7,318,599...7,328,508 		JBrowse link
G As3mt arsenite methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28235556 NCBI chrNW_004936600:3,050,946...3,069,786
Ensembl chrNW_004936600:3,051,129...3,069,690 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936580:4,821,384...4,997,112
Ensembl chrNW_004936580:4,820,142...4,997,112 		JBrowse link
G Ash2l ASH2 like, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chrNW_004936710:1,489,483...1,519,469
Ensembl chrNW_004936710:1,489,522...1,518,849 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21706002 PMID:25741868 PMID:28492532 NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32581362 NCBI chrNW_004936517:11,064,986...11,074,992
Ensembl chrNW_004936517:11,064,987...11,165,956 		JBrowse link
G Atad5 ATPase family AAA domain containing 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:2,815,370...2,877,084
Ensembl chrNW_004936538:2,811,174...2,874,113 		JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936687:1,435,977...1,437,138
Ensembl chrNW_004936687:1,436,009...1,437,067 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 More... NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936481:17,438,146...17,460,329
Ensembl chrNW_004936481:17,436,270...17,460,348 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28135719 PMID:28492532 PMID:33833240 PMID:34909687 NCBI chrNW_004936490:17,235,661...17,296,589
Ensembl chrNW_004936490:17,235,661...17,296,633 		JBrowse link
G Atrx ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26539891 PMID:28492532 PMID:29790871 NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936543:5,146,961...6,187,634 JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079 		JBrowse link
G Bcas3 BCAS3 microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:34022130 PMID:39825153 NCBI chrNW_004936490:2,189,693...2,761,989
Ensembl chrNW_004936490:2,189,583...2,761,331 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741869 NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568 		JBrowse link
G Bcorl1 BCL6 corepressor like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936479:1,539,676...1,605,647
Ensembl chrNW_004936479:1,538,051...1,606,344 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936547:7,842,016...7,843,087 JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936529:6,632,292...6,699,968
Ensembl chrNW_004936529:6,632,197...6,699,998 		JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28942966 NCBI chrNW_004936541:5,261,899...5,396,930
Ensembl chrNW_004936541:5,262,773...5,395,519 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664 		JBrowse link
G Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32652122 NCBI chrNW_004936602:3,419,873...3,436,119
Ensembl chrNW_004936602:3,420,445...3,436,119 		JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chrNW_004936547:2,236,164...2,354,652
Ensembl chrNW_004936547:2,240,314...2,354,796 		JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936492:1,990,430...2,030,744
Ensembl chrNW_004936492:1,998,793...2,075,257 		JBrowse link
G Camk2a calcium/calmodulin dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741872 NCBI chrNW_004936504:4,636,863...4,700,887
Ensembl chrNW_004936504:4,638,176...4,700,984 		JBrowse link
G Camk2b calcium/calmodulin dependent protein kinase II beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chrNW_004936478:19,183,493...19,278,457
Ensembl chrNW_004936478:19,180,726...19,278,920 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004936508:7,265,496...7,637,513
Ensembl chrNW_004936508:7,266,021...7,637,400 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32581362 NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492 		JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288 		JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chrNW_004936659:2,611,621...2,627,071
Ensembl chrNW_004936659:2,613,365...2,626,666 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936641:351,905...359,553
Ensembl chrNW_004936641:347,882...359,660 		JBrowse link
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741891 PMID:27479907 PMID:28135719 PMID:28492532 More... NCBI chrNW_004936478:15,296,055...15,387,749
Ensembl chrNW_004936478:15,296,055...15,388,309 		JBrowse link
G Cdk20 cyclin dependent kinase 20 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:29127259 NCBI chrNW_004936854:810,996...817,136
Ensembl chrNW_004936854:812,575...817,202 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:36937954 NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chrNW_004936704:779,528...803,860
Ensembl chrNW_004936704:778,480...803,886 		JBrowse link
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:8954020 PMID:8964822 PMID:12050212 PMID:16117192 PMID:19417038 More... NCBI chrNW_004936488:9,246,498...9,419,164
Ensembl chrNW_004936488:9,019,397...9,395,068 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 More... NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		JBrowse link
G Cep97 centrosomal protein 97 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chrNW_004936630:1,715,225...1,734,560
Ensembl chrNW_004936630:1,715,155...1,734,444 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936500:6,262,207...6,288,833
Ensembl chrNW_004936500:6,262,229...6,288,839 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30397230 NCBI chrNW_004936595:1,131,198...1,154,615
Ensembl chrNW_004936595:1,130,078...1,157,822 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936709:1,183,243...1,214,144
Ensembl chrNW_004936709:1,183,254...1,214,149 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33944996 NCBI chrNW_004936623:988,423...1,046,969
Ensembl chrNW_004936623:991,193...1,046,969 		JBrowse link
G Chrm4 cholinergic receptor muscarinic 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936562:2,685,209...2,687,751
Ensembl chrNW_004936562:2,493,774...2,689,731 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20805988 NCBI chrNW_004936514:10,680,893...10,695,859
Ensembl chrNW_004936514:10,680,859...10,695,865 		JBrowse link
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936470:142,862...214,993
Ensembl chrNW_004936470:142,832...212,154 		JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33217309 NCBI chrNW_004936474:637,930...669,383
Ensembl chrNW_004936474:637,978...669,833 		JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936490:3,659,682...3,726,222
Ensembl chrNW_004936490:3,657,242...3,726,274 		JBrowse link
G Cntn4 contactin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chrNW_004936577:2,298,648...2,768,864
Ensembl chrNW_004936577:2,355,237...2,770,349 		JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936788:533,811...645,821
Ensembl chrNW_004936788:533,802...645,907 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 PMID:30311386 NCBI chrNW_004936585:5,650,322...5,686,393
Ensembl chrNW_004936585:5,651,180...5,685,923 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18319074 PMID:20580948 PMID:24164873 PMID:28492532 NCBI chrNW_004936526:3,648,447...3,684,230
Ensembl chrNW_004936526:3,648,386...3,684,238 		JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21922598 PMID:23105115 PMID:25401298 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936496:6,484,438...6,761,816
Ensembl chrNW_004936496:6,484,438...6,761,816 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24178751 PMID:25407461 PMID:25558065 PMID:25741868 PMID:26092869 More... NCBI chrNW_004936518:4,706,496...4,847,283
Ensembl chrNW_004936518:4,706,500...4,847,316 		JBrowse link
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936507:10,077,345...10,264,705
Ensembl chrNW_004936507:10,098,171...10,264,716 		JBrowse link
G Creb3l1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936562:2,739,908...2,772,484
Ensembl chrNW_004936562:2,739,905...2,772,484 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617 		JBrowse link
G Crlf3 cytokine receptor like factor 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:2,877,564...2,916,952
Ensembl chrNW_004936538:2,877,564...2,916,925 		JBrowse link
G Crybg1 crystallin beta-gamma domain containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936564:3,050,639...3,101,041
Ensembl chrNW_004936564:3,051,518...3,099,596 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936496:6,915,840...7,036,205
Ensembl chrNW_004936496:6,915,281...7,034,124 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:8135271 PMID:17236139 PMID:17273978 PMID:20064923 PMID:25741868 NCBI chrNW_004936479:9,490,717...9,535,998
Ensembl chrNW_004936479:9,479,133...9,534,262 		JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 More... NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895 		JBrowse link
G CUNH19orf12 chromosome unknown C19orf12 homolog ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26539891 NCBI chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056 		JBrowse link
G CUNH1orf105 chromosome unknown C1orf105 homolog ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741900 NCBI chrNW_004936481:14,936,108...14,962,504 JBrowse link
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741870 PMID:30664714 NCBI chrNW_004936515:5,759,940...5,880,688
Ensembl chrNW_004936515:5,759,345...5,880,713 		JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chrNW_004936842:677,416...697,013
Ensembl chrNW_004936842:677,416...697,003 		JBrowse link
G Ddc dopa decarboxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chrNW_004936686:1,322,153...1,405,434
Ensembl chrNW_004936686:1,301,207...1,405,384 		JBrowse link
G Ddx3x DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741895 NCBI chrNW_004936502:7,770,896...7,820,555
Ensembl chrNW_004936502:7,804,824...7,820,569 		JBrowse link
G Ddx5 DEAD-box helicase 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936541:5,005,211...5,013,439
Ensembl chrNW_004936541:5,004,692...5,013,350 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936755:871,935...1,024,538
Ensembl chrNW_004936755:872,815...1,024,057 		JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936562:2,690,907...2,733,455
Ensembl chrNW_004936562:2,690,858...2,733,620 		JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28327206 PMID:29100085 PMID:32581362 NCBI chrNW_004936596:1,419,165...1,454,797
Ensembl chrNW_004936596:1,421,094...1,455,356 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24781755 PMID:25558065 PMID:25741868 NCBI chrNW_004936504:12,548,452...12,645,236
Ensembl chrNW_004936504:12,548,452...12,643,399 		JBrowse link
G Dip2c disco interacting protein 2 homolog C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936484:13,587,541...13,752,361
Ensembl chrNW_004936484:13,578,941...13,755,108 		JBrowse link
G Dmbx1 diencephalon/mesencephalon homeobox 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936474:27,504,419...27,529,196
Ensembl chrNW_004936474:27,500,669...27,529,205 		JBrowse link
G Dock3 dedicator of cytokinesis 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30976111 NCBI chrNW_004936529:2,182,261...2,771,107
Ensembl chrNW_004936529:2,182,255...2,774,346 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18060736 NCBI chrNW_004936503:4,362,573...4,575,307
Ensembl chrNW_004936503:4,363,926...4,574,932 		JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32576952 NCBI chrNW_004936474:25,288,714...25,292,287
Ensembl chrNW_004936474:25,288,250...25,293,382 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21592505 NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chrNW_004936813:292,408...334,079
Ensembl chrNW_004936813:292,396...334,020 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741904 PMID:28527814 PMID:31028357 NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25590979 PMID:25741868 PMID:27754416 PMID:28492532 PMID:29286531 More... NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25741883 More... NCBI chrNW_004936500:5,317,109...5,423,593
Ensembl chrNW_004936500:5,316,164...5,404,353 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22492562 PMID:25058219 PMID:25741868 PMID:26893310 PMID:28492532 NCBI chrNW_004936501:8,190,466...8,209,320
Ensembl chrNW_004936501:8,188,071...8,209,386 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:32581362 PMID:33956416 More... NCBI chrNW_004936486:16,978,048...17,092,209
Ensembl chrNW_004936486:16,976,442...17,092,228 		JBrowse link
G Eef1b2 eukaryotic translation elongation factor 1 beta 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936631:2,539,075...2,542,252
Ensembl chrNW_004936631:2,539,070...2,542,419 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24999515 PMID:25741868 PMID:25741880 PMID:26507355 PMID:28492532 NCBI chrNW_004936541:1,216,584...1,259,355
Ensembl chrNW_004936541:1,217,138...1,257,935 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16199547 PMID:16826528 PMID:19264732 PMID:23232695 PMID:25741868 More... NCBI chrNW_004936669:321,580...450,061
Ensembl chrNW_004936669:321,249...423,018 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32197074 NCBI chrNW_004936663:1,127,047...1,157,263
Ensembl chrNW_004936663:1,126,977...1,157,137 		JBrowse link
G Elavl2 ELAV like RNA binding protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936827:878,632...1,002,034
Ensembl chrNW_004936827:878,536...1,032,199 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936533:5,985,873...6,216,124
Ensembl chrNW_004936533:5,986,322...6,216,145 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 More... NCBI chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chrNW_004936517:841,402...941,054
Ensembl chrNW_004936517:841,411...939,581 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936650:2,145,614...2,219,812
Ensembl chrNW_004936650:2,145,607...2,220,019 		JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936573:1,448,325...1,474,753 JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:3,448,784...3,453,369 JBrowse link
G Evi2b ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:3,454,956...3,464,878
Ensembl chrNW_004936538:3,455,586...3,464,580 		JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25927356 PMID:28492532 PMID:36622392 NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25927356 PMID:28492532 PMID:36622392 NCBI chrNW_004936602:3,160,505...3,161,374
Ensembl chrNW_004936602:3,160,508...3,161,044 		JBrowse link
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936534:6,703,760...7,205,204
Ensembl chrNW_004936534:6,703,749...7,087,658 		JBrowse link
G Fat3 FAT atypical cadherin 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936674:1,770,884...2,104,909
Ensembl chrNW_004936674:1,775,744...2,374,883 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chrNW_004936689:2,261,163...2,449,951
Ensembl chrNW_004936689:2,259,477...2,344,764 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936559:6,612,318...6,680,690
Ensembl chrNW_004936559:6,619,531...6,670,727
Ensembl chrNW_004936559:6,619,531...6,670,727 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16684786 PMID:20730588 PMID:25741868 PMID:26471271 PMID:28492532 More... NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19578037 PMID:25741868 PMID:28492532 PMID:28661489 PMID:32581362 NCBI chrNW_004936494:3,738,419...3,740,419
Ensembl chrNW_004936494:3,736,120...3,739,498 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936476:18,314,108...18,346,149
Ensembl chrNW_004936476:18,313,951...18,346,199 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936572:5,943,309...5,950,476
Ensembl chrNW_004936572:5,943,186...5,950,502 		JBrowse link
G Fzr1 fizzy and cell division cycle 20 related 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936588:2,000,872...2,007,569
Ensembl chrNW_004936588:1,993,721...2,009,240 		JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:36103875 NCBI chrNW_004936723:1,108,105...1,137,602
Ensembl chrNW_004936723:1,107,995...1,137,178 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18514161 PMID:22303015 PMID:25741868 PMID:28492532 PMID:35383156 NCBI chrNW_004936471:39,791,633...40,193,049
Ensembl chrNW_004936471:39,791,613...40,187,923 		JBrowse link
G Gemin4 gem nuclear organelle associated protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chrNW_004936538:7,033,354...7,040,178
Ensembl chrNW_004936538:7,004,175...7,043,459 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936553:6,707,148...6,787,245 JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 More... NCBI chrNW_004936539:1,008,340...1,095,044
Ensembl chrNW_004936539:1,007,820...1,095,054 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936529:1,336,002...1,338,615
Ensembl chrNW_004936529:1,336,002...1,338,400 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25356970 PMID:25741868 PMID:25966631 PMID:26795593 PMID:27068059 More... NCBI chrNW_004936475:8,610,123...8,681,606
Ensembl chrNW_004936475:8,565,889...8,690,673 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102 		JBrowse link
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33971351 NCBI chrNW_004936543:706,505...710,057
Ensembl chrNW_004936543:706,505...714,462 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741873 PMID:27523599 PMID:27677260 PMID:30631341 More... NCBI chrNW_004936471:13,952,462...14,001,663
Ensembl chrNW_004936471:13,955,991...13,997,073 		JBrowse link
G Golph3 golgi phosphoprotein 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936518:8,602,367...8,635,665
Ensembl chrNW_004936518:8,602,367...8,635,655 		JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741907 NCBI chrNW_004936479:7,050,018...7,323,047
Ensembl chrNW_004936479:7,050,016...7,323,196 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936530:8,286,101...8,612,183
Ensembl chrNW_004936530:8,287,574...8,608,343 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741871 NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741889 PMID:31319223 NCBI chrNW_004936625:91,229...468,242
Ensembl chrNW_004936625:90,299...466,395 		JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936602:5,111,406...5,488,506
Ensembl chrNW_004936602:5,110,995...5,488,555 		JBrowse link
G Hace1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26424145 PMID:26437029 PMID:28492532 PMID:32581362 NCBI chrNW_004936564:1,499,918...1,582,719
Ensembl chrNW_004936564:1,499,634...1,582,759 		JBrowse link
G Harbi1 harbinger transposase derived 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936562:2,473,389...2,481,724
Ensembl chrNW_004936562:2,473,335...2,481,793 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26671848 NCBI chrNW_004936762:1,425,337...1,652,058
Ensembl chrNW_004936762:1,425,335...1,652,063 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30755392 NCBI chrNW_004936471:38,419,147...38,606,312
Ensembl chrNW_004936471:38,419,129...38,606,323 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 PMID:2137287 More... NCBI chrNW_004936471:31,712,485...31,738,273
Ensembl chrNW_004936471:31,709,491...31,738,245 		JBrowse link
G Hspb9 heat shock protein family B (small) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31546644 NCBI chrNW_004936490:16,960,927...16,962,522
Ensembl chrNW_004936490:16,961,552...16,962,004 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741905 PMID:28492532 NCBI chrNW_004936751:478,978...622,818
Ensembl chrNW_004936751:478,300...622,820 		JBrowse link
G Iars1 isoleucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936487:1,889,428...1,948,447
Ensembl chrNW_004936487:1,886,552...1,948,498 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:34670126 NCBI chrNW_004936513:62,966...88,844
Ensembl chrNW_004936513:62,993...88,774 		JBrowse link
G Isca2 iron-sulfur cluster assembly 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936488:3,676,752...3,678,741
Ensembl chrNW_004936488:3,676,677...3,678,949 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20301783 PMID:22544363 PMID:22544367 PMID:25741868 PMID:25741877 More... NCBI chrNW_004936541:2,480,097...2,677,693
Ensembl chrNW_004936541:2,480,849...2,675,991 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chrNW_004936475:24,294,699...24,312,051
Ensembl chrNW_004936475:24,292,876...24,312,076 		JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chrNW_004936485:1,992,894...2,031,632
Ensembl chrNW_004936485:1,955,924...2,031,650 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936704:2,007,577...2,019,520
Ensembl chrNW_004936704:2,007,577...2,017,764 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16002581 PMID:25741868 PMID:28492532 PMID:33242881 PMID:39825153 NCBI chrNW_004937043:133,981...269,593 JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 More... NCBI chrNW_004936514:10,735,247...10,787,682
Ensembl chrNW_004936514:10,735,809...10,787,678 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741879 NCBI chrNW_004936618:4,283,240...4,815,571
Ensembl chrNW_004936618:4,283,349...4,812,036 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23086397 NCBI chrNW_004936669:1,834,879...1,867,572
Ensembl chrNW_004936669:1,834,582...1,871,791 		JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936474:8,262,913...8,319,089
Ensembl chrNW_004936474:8,262,885...8,319,092 		JBrowse link
G Kdm2b lysine demethylase 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936558:2,771,420...2,897,694
Ensembl chrNW_004936558:2,771,420...2,897,292 		JBrowse link
G Kif1a kinesin family member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chrNW_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251 		JBrowse link
G Kif5b kinesin family member 5B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936574:780,074...823,858
Ensembl chrNW_004936574:779,777...823,970 		JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936572:5,763,098...5,797,410
Ensembl chrNW_004936572:5,239,573...5,796,368 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741878 NCBI chrNW_004936570:583,616...605,846
Ensembl chrNW_004936570:583,616...605,603 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22832583 PMID:25741868 PMID:29926297 PMID:30352910 PMID:30981987 NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365 		JBrowse link
G Kmt2e lysine methyltransferase 2E (inactive) ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936479:18,674,657...18,764,177
Ensembl chrNW_004936479:18,675,413...18,738,983 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936599:1,928,172...1,983,983
Ensembl chrNW_004936599:1,928,145...1,984,008 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		JBrowse link
G Las1l LAS1 like ribosome biogenesis factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25644381 PMID:28492532 NCBI chrNW_004936635:2,560,586...2,580,309
Ensembl chrNW_004936635:2,560,471...2,581,785 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:36055214 NCBI chrNW_004936477:21,550,104...21,589,662
Ensembl chrNW_004936477:21,550,013...21,587,007 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chrNW_004936518:3,651,630...3,693,072
Ensembl chrNW_004936518:3,652,152...3,693,078 		JBrowse link
G Lmbrd2 LMBR1 domain containing 2 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:32820033 NCBI chrNW_004936518:5,665,075...5,713,162
Ensembl chrNW_004936518:5,679,412...5,711,506 		JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16325861 PMID:16787562 PMID:18354422 PMID:20301674 PMID:24486772 More... NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638 		JBrowse link
G LOC101961662 biotinidase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936473:2,787,386...2,823,014 JBrowse link
G LOC101963041 histone H3.3A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21636898 PMID:25741868 PMID:33268356 PMID:34876591 NCBI chrNW_004936526:2,835,002...2,842,328 JBrowse link
G LOC101963257 histone H3.3A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33268356 PMID:34876591 NCBI chrNW_004936594:959,493...961,703
Ensembl chrNW_004936594:958,049...961,708 		JBrowse link
G LOC101965792 von Willebrand factor A domain-containing protein 8 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:34660594 PMID:36937954 NCBI chrNW_004936747:1,798,200...2,018,722
Ensembl chrNW_004936747:1,797,136...2,064,072 		JBrowse link
G LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18414213 PMID:20466733 PMID:25131622 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G LOC101972801 histone H4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936671:1,953,045...1,953,612 JBrowse link
G LOC101973126 cytochrome P450 2U1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176821 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28600779 More... NCBI chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355 		JBrowse link
G Lrig2 leucine rich repeats and immunoglobulin like domains 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741906 NCBI chrNW_004936690:1,591,741...1,642,183
Ensembl chrNW_004936690:1,591,965...1,641,544 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935 		JBrowse link
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30976112 NCBI chrNW_004936498:5,305,680...5,315,580
Ensembl chrNW_004936498:5,305,545...5,315,539 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31010896 NCBI chrNW_004936710:1,546,027...1,551,685
Ensembl chrNW_004936710:1,545,790...1,552,394 		JBrowse link
G Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936474:21,053,755...21,401,336
Ensembl chrNW_004936474:21,178,791...21,400,147 		JBrowse link
G Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30979967 NCBI chrNW_004936549:4,266,371...4,371,579
Ensembl chrNW_004936549:4,266,351...4,371,644 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936694:2,223,020...2,263,388
Ensembl chrNW_004936694:2,222,996...2,263,390 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936615:4,386,667...4,580,720
Ensembl chrNW_004936615:4,386,635...4,580,747 		JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936562:2,687,825...2,690,292
Ensembl chrNW_004936562:2,687,825...2,689,484 		JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 More... NCBI chrNW_004936476:16,920,280...16,922,326
Ensembl chrNW_004936476:16,920,246...16,928,252 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 More... NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25712080 PMID:25741868 PMID:25741884 PMID:25758992 PMID:28492532 More... NCBI chrNW_004936558:5,998,760...6,288,666
Ensembl chrNW_004936558:5,998,754...6,289,867 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16714318 PMID:16835246 PMID:21715711 PMID:23781337 PMID:26955893 More... NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20684000 PMID:22105986 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936583:396,787...399,697
Ensembl chrNW_004936583:398,190...399,533 		JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9311737 PMID:11948175 PMID:15475387 PMID:16736289 PMID:17135187 More... NCBI chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736 		JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741893 PMID:26497905 PMID:27105897 PMID:28492532 More... NCBI chrNW_004936755:133,315...171,507
Ensembl chrNW_004936755:130,983...171,492 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936499:10,636,711...10,647,442
Ensembl chrNW_004936499:10,636,776...10,647,442 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969 		JBrowse link
G Msl3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chrNW_004936470:1,572,037...1,587,002
Ensembl chrNW_004936470:1,572,014...1,587,011 		JBrowse link
G Mtcl3 MTCL family member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936639:2,209,781...2,248,707
Ensembl chrNW_004936639:2,209,613...2,248,689 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741868 More... NCBI chrNW_004936859:757,977...788,073
Ensembl chrNW_004936859:740,281...788,435 		JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936475:22,948,608...22,967,489
Ensembl chrNW_004936475:22,950,793...22,967,467 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936511:3,977,950...4,248,959
Ensembl chrNW_004936511:3,978,246...4,249,234 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chrNW_004936741:1,669,680...1,724,929
Ensembl chrNW_004936741:1,669,680...1,723,891 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:1,679,092...1,706,976
Ensembl chrNW_004936490:1,679,187...1,706,976 		JBrowse link
G Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28191889 PMID:28303347 PMID:29656860 PMID:37673932 More... NCBI chrNW_004936535:8,219,764...8,301,425
Ensembl chrNW_004936535:8,217,578...8,301,497 		JBrowse link
G Nans N-acetylneuraminate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27213289 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902 		JBrowse link
G Nckap1 NCK associated protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741875 NCBI chrNW_004936509:11,525,764...11,624,833
Ensembl chrNW_004936509:11,524,556...11,624,621 		JBrowse link
G Ncor1 nuclear receptor corepressor 1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chrNW_004936821:382,756...538,254
Ensembl chrNW_004936821:382,383...536,223 		JBrowse link
G Ndc1 NDC1 transmembrane nucleoporin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936522:7,303,366...7,353,700
Ensembl chrNW_004936522:7,302,776...7,355,794 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25125150 PMID:25741868 PMID:27620904 PMID:27870114 PMID:28492532 NCBI chrNW_004936504:4,413,549...4,495,933
Ensembl chrNW_004936504:4,413,549...4,454,109 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261 		JBrowse link
G Nfe2l1 NFE2 like bZIP transcription factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936490:13,265,269...13,279,164
Ensembl chrNW_004936490:13,266,347...13,279,206 		JBrowse link
G Ngly1 N-glycanase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chrNW_004936473:17,243,763...17,294,609
Ensembl chrNW_004936473:17,239,966...17,294,791 		JBrowse link
G Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936518:4,870,686...5,041,099
Ensembl chrNW_004936518:4,869,546...4,969,450 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936479:10,024,674...10,041,738
Ensembl chrNW_004936479:10,024,705...10,041,590 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 More... NCBI chrNW_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849 		JBrowse link
G Nol11 nucleolar protein 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28942966 NCBI chrNW_004936541:5,448,346...5,475,064
Ensembl chrNW_004936541:5,448,658...5,475,020 		JBrowse link
G Nono non-POU domain containing octamer binding ISO DNA:missense mutation:CDS:p.P459A (human) RGD PMID:36653413 RGD:155900764 NCBI chrNW_004936762:322,413...343,126
Ensembl chrNW_004936762:321,280...341,537 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 More... NCBI chrNW_004936488:3,664,171...3,676,438
Ensembl chrNW_004936488:3,663,655...3,676,505 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2 group F member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936523:9,508,204...9,517,266
Ensembl chrNW_004936523:9,507,965...9,517,272 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936469:21,912,118...21,920,486
Ensembl chrNW_004936469:21,912,047...21,920,486 		JBrowse link
G Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936470:22,447,278...22,667,302
Ensembl chrNW_004936470:22,445,433...22,667,559 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31372774 PMID:31692205 NCBI chrNW_004936487:18,779,470...18,838,245
Ensembl chrNW_004936487:18,783,058...18,837,481 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15494731 NCBI chrNW_004936680:267,850...621,467
Ensembl chrNW_004936680:267,596...615,928 		JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 NCBI chrNW_004936545:6,600,124...6,642,839
Ensembl chrNW_004936545:6,600,088...6,642,870 		JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936518:4,635,970...4,688,669
Ensembl chrNW_004936518:4,635,869...4,690,943 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chrNW_004936487:17,981,402...18,067,828
Ensembl chrNW_004936487:17,981,304...18,067,854 		JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004936480:99,516...152,834
Ensembl chrNW_004936480:98,371...152,413 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More... NCBI chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741903 NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197 		JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:9,106,525...9,166,311
Ensembl chrNW_004936529:9,106,496...9,176,394 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:5116697 PMID:18469813 PMID:21053371 PMID:22267240 PMID:22946748 More... NCBI chrNW_004936584:5,568,740...5,668,095
Ensembl chrNW_004936584:5,568,728...5,668,116 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:28492532 More... NCBI chrNW_004936490:14,139,125...14,150,377
Ensembl chrNW_004936490:14,138,980...14,150,756 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936778:149,844...248,905
Ensembl chrNW_004936778:149,177...247,357 		JBrowse link
G Pde10a phosphodiesterase 10A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27058446 PMID:32581362 NCBI chrNW_004936489:15,401,248...15,671,594
Ensembl chrNW_004936489:15,400,629...15,671,600 		JBrowse link
G Pdzd2 PDZ domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936518:8,647,338...8,883,494
Ensembl chrNW_004936518:8,646,838...9,008,767 		JBrowse link
G Pelp1 proline, glutamate and leucine rich protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936677:3,184,758...3,212,026
Ensembl chrNW_004936677:3,184,357...3,213,432 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936691:716,723...767,960
Ensembl chrNW_004936691:716,697...768,016 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741900 NCBI chrNW_004936481:14,962,572...14,964,929
Ensembl chrNW_004936481:14,962,613...14,964,861 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24463883 PMID:25558065 PMID:28492532 NCBI chrNW_004936501:415,232...429,902
Ensembl chrNW_004936501:414,905...429,600 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:27916860 PMID:30976099 PMID:32581362 NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:1,675,592...1,678,494
Ensembl chrNW_004936490:1,675,765...1,677,279 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936596:3,010,526...3,021,848
Ensembl chrNW_004936596:3,010,488...3,021,920 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936499:10,534,953...10,553,411
Ensembl chrNW_004936499:10,534,950...10,551,012 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chrNW_004936724:1,747,015...1,780,298
Ensembl chrNW_004936724:1,747,005...1,778,141 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035 		JBrowse link
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936491:1,989,429...2,032,430
Ensembl chrNW_004936491:1,987,097...2,032,430 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26077850 PMID:27148570 PMID:31782611 NCBI chrNW_004936580:1,613,425...1,650,849
Ensembl chrNW_004936580:1,615,713...1,650,874 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 More... NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741874 NCBI chrNW_004936721:495,132...508,341
Ensembl chrNW_004936721:495,093...508,347 		JBrowse link
G Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936504:7,655,924...8,097,125
Ensembl chrNW_004936504:7,656,298...8,097,276 		JBrowse link
G Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936835:54,478...192,486
Ensembl chrNW_004936835:96,930...192,756 		JBrowse link
G Ppp2r5d protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 More... NCBI chrNW_004936476:16,922,204...16,945,400
Ensembl chrNW_004936476:16,923,254...16,941,430 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:34715011 NCBI chrNW_004936494:9,282,894...9,414,350 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
G Prrt2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936501:12,660,181...12,663,788
Ensembl chrNW_004936501:12,659,905...12,663,110 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936562:1,810,883...1,817,040
Ensembl chrNW_004936562:1,810,864...1,823,077 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26467025 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11992261 PMID:14644997 PMID:15987685 PMID:16358218 PMID:17020470 More... NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:28492532 PMID:31395947 NCBI chrNW_004936596:1,094,285...1,124,483
Ensembl chrNW_004936596:1,094,205...1,124,712 		JBrowse link
G Pum1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936474:14,243,325...14,363,461
Ensembl chrNW_004936474:14,243,296...14,363,500 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 More... NCBI chrNW_004936531:9,129,024...9,134,916
Ensembl chrNW_004936531:9,129,715...9,130,515 		JBrowse link
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936564:3,149,154...3,179,514
Ensembl chrNW_004936564:3,149,278...3,179,415 		JBrowse link
G Rab11fip4 RAB11 family interacting protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:3,269,317...3,382,298
Ensembl chrNW_004936538:3,269,336...3,382,304 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936499:10,501,837...10,506,793
Ensembl chrNW_004936499:10,437,611...10,504,320 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741888 PMID:28886345 NCBI chrNW_004936750:107,689...122,679
Ensembl chrNW_004936750:107,689...122,676 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16931511 PMID:17686188 PMID:25741868 PMID:25741902 PMID:26467025 More... NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181 		JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22366785 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28857120 More... NCBI chrNW_004936867:666,208...667,851
Ensembl chrNW_004936867:666,199...667,828 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 More... NCBI chrNW_004936507:5,210,561...5,223,320
Ensembl chrNW_004936507:5,210,504...5,223,728 		JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25735484 PMID:25741868 NCBI chrNW_004936683:930,537...961,792
Ensembl chrNW_004936683:934,338...961,863 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016 		JBrowse link
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:2,741,308...2,757,042
Ensembl chrNW_004936538:2,741,220...2,757,240 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936624:3,897,878...4,005,664
Ensembl chrNW_004936624:3,897,791...4,000,558 		JBrowse link
G Rps6kc1 ribosomal protein S6 kinase C1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936557:361,071...578,298
Ensembl chrNW_004936557:358,221...578,453 		JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:33037779 NCBI chrNW_004936564:3,104,652...3,149,100
Ensembl chrNW_004936564:3,104,163...3,149,072 		JBrowse link
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936784:370,173...438,263
Ensembl chrNW_004936784:383,899...438,275 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:30755392 NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:31849593 NCBI chrNW_004936506:34,968...206,432
Ensembl chrNW_004936506:34,962...206,490 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:31439720 PMID:33390987 NCBI chrNW_004936471:33,936,721...33,958,439
Ensembl chrNW_004936471:33,936,531...33,958,573
Ensembl chrNW_004936471:33,936,531...33,958,573 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:19563458 More... NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 PMID:32581362 NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:28235671 PMID:28492532 PMID:29466837 PMID:29740860 More... NCBI chrNW_004936469:14,072,182...14,180,552
Ensembl chrNW_004936469:14,101,868...14,179,998 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25725044 PMID:25741868 PMID:27900360 PMID:28492532 PMID:30109124 More... NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19763161 PMID:23129781 PMID:25250524 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974 		JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11231286 PMID:25356899 PMID:25741868 PMID:27775603 PMID:28135719 More... NCBI chrNW_004936487:16,181,764...16,184,706 JBrowse link
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chrNW_004936558:2,587,369...2,610,895
Ensembl chrNW_004936558:2,588,433...2,610,783 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:15146460 More... NCBI chrNW_004936594:4,195,217...4,203,802
Ensembl chrNW_004936594:4,193,983...4,204,008 		JBrowse link
G Shank1 SH3 and multiple ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936889:428,404...470,161
Ensembl chrNW_004936889:428,417...470,060 		JBrowse link
G Shank2 SH3 and multiple ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936599:196,512...463,749
Ensembl chrNW_004936599:217,138...463,771 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32581362 NCBI chrNW_004936629:114,175...168,697
Ensembl chrNW_004936629:114,850...167,505 		JBrowse link
G Sik1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936500:774,749...784,326
Ensembl chrNW_004936500:774,092...784,330 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chrNW_004936531:8,062,441...8,320,287
Ensembl chrNW_004936531:8,060,787...8,320,302 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936677:1,288,637...1,316,884
Ensembl chrNW_004936677:1,288,456...1,318,221 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936518:5,216,343...5,291,107
Ensembl chrNW_004936518:5,215,290...5,291,058 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936888:558,064...565,576
Ensembl chrNW_004936888:558,045...565,782 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9462754 PMID:10980529 PMID:11603379 NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chrNW_004936519:3,038,895...3,061,215
Ensembl chrNW_004936519:3,036,106...3,061,271 		JBrowse link
G Slc35f1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24824130 NCBI chrNW_004936658:851,751...1,238,263
Ensembl chrNW_004936658:1,076,196...1,238,276 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chrNW_004936598:3,391,587...3,713,629
Ensembl chrNW_004936598:3,391,575...3,713,635 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25363768 PMID:25741868 PMID:27824329 PMID:28492532 PMID:30132828 More... NCBI chrNW_004936602:2,359,151...2,397,346
Ensembl chrNW_004936602:2,357,607...2,379,061 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11326334 NCBI chrNW_004936809:571,234...578,298 JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:32581362 PMID:32860008 NCBI chrNW_004936513:11,158,609...11,215,477
Ensembl chrNW_004936513:11,158,730...11,215,568 		JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741897 NCBI chrNW_004936866:412,719...419,381
Ensembl chrNW_004936866:412,818...419,381 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936659:1,152,846...1,246,718
Ensembl chrNW_004936659:1,169,792...1,249,213 		JBrowse link
G Smarca5 SNF2 related chromatin remodeling ATPase 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936535:4,857,816...4,890,266
Ensembl chrNW_004936535:4,856,672...4,890,225 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936751:332,351...388,756
Ensembl chrNW_004936751:349,597...388,755 		JBrowse link
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:27018474 PMID:33609422 NCBI chrNW_004936706:908,471...929,075
Ensembl chrNW_004936706:908,867...929,305 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33299146 NCBI chrNW_004936485:9,198,744...9,279,854
Ensembl chrNW_004936485:9,195,110...9,279,920 		JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936664:3,035,679...3,054,577 JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chrNW_004936500:8,721,155...8,752,906
Ensembl chrNW_004936500:8,722,087...8,752,844 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936661:2,831,132...2,903,619
Ensembl chrNW_004936661:2,827,572...2,903,655 		JBrowse link
G Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:11522779 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 More... NCBI chrNW_004936501:13,095,690...13,131,183
Ensembl chrNW_004936501:13,096,840...13,131,183 		JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 More... NCBI chrNW_004936482:17,727,418...17,744,780
Ensembl chrNW_004936482:17,727,310...17,745,225 		JBrowse link
G St7 suppression of tumorigenicity 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936589:1,899,714...2,119,063
Ensembl chrNW_004936589:1,899,687...2,111,047 		JBrowse link
G Stag1 STAG1 cohesin complex component ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741896 NCBI chrNW_004936529:9,173,162...9,530,321
Ensembl chrNW_004936529:9,172,166...9,530,304 		JBrowse link
G Stambp STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chrNW_004936556:143,483...174,383 JBrowse link
G Stard9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936471:5,842,887...5,986,988 JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936565:1,313,150...1,355,693
Ensembl chrNW_004936565:1,313,150...1,355,693 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004936476:25,446,524...25,474,793
Ensembl chrNW_004936476:25,445,775...25,474,899 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 NCBI chrNW_004936543:250,174...256,405
Ensembl chrNW_004936543:247,096...256,629 		JBrowse link
G Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:31616000 NCBI chrNW_004936541:3,702,743...4,115,009
Ensembl chrNW_004936541:3,744,687...4,115,007 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:33565190 NCBI chrNW_004936538:5,531,639...5,668,119
Ensembl chrNW_004936538:5,531,633...5,659,239 		JBrowse link
G Tasp1 taspase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:31209944 NCBI chrNW_004936485:6,163,809...6,460,361
Ensembl chrNW_004936485:6,163,809...6,460,360 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:31922275 PMID:32581362 NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chrNW_004936923:239,029...366,503
Ensembl chrNW_004936923:239,053...364,112 		JBrowse link
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16199547 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 More... NCBI chrNW_004936814:837,394...1,052,220
Ensembl chrNW_004936814:837,345...1,052,572 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936499:10,671,607...10,673,712
Ensembl chrNW_004936499:10,671,595...10,673,431 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936499:10,710,694...10,712,884 JBrowse link
G Tceal4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936499:10,740,406...10,742,748
Ensembl chrNW_004936499:10,741,053...10,741,631 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:36937954 NCBI chrNW_004936471:18,223,221...18,576,922 JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936718:180,145...233,037
Ensembl chrNW_004936718:179,777...358,166 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18728071 PMID:21671391 PMID:22460224 PMID:22678594 PMID:25741868 More... NCBI chrNW_004936497:8,410,882...8,765,678
Ensembl chrNW_004936497:8,410,860...8,764,296 		JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:26092869 NCBI chrNW_004936558:3,552,909...3,581,212
Ensembl chrNW_004936558:3,552,864...3,581,368 		JBrowse link
G Tefm transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chrNW_004936538:2,803,195...2,812,939
Ensembl chrNW_004936538:2,802,922...2,815,895 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179 		JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chrNW_004936490:11,387,480...11,392,246 JBrowse link
G Tmprss9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936588:1,422,783...1,444,938
Ensembl chrNW_004936588:1,422,783...1,444,770 		JBrowse link
G Tmsb15b thymosin beta 15B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936499:10,315,198...10,318,382 JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165 		JBrowse link
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:32581362 NCBI chrNW_004936514:6,512,838...6,515,479
Ensembl chrNW_004936514:6,512,778...6,515,771 		JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936532:391,181...435,132
Ensembl chrNW_004936532:390,327...429,386 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:33586135 NCBI chrNW_004936472:8,370,607...8,438,376
Ensembl chrNW_004936472:8,369,736...8,438,412 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936602:623,542...626,337
Ensembl chrNW_004936602:623,535...626,445 		JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chrNW_004936665:1,821,580...2,029,839
Ensembl chrNW_004936665:1,821,583...2,030,371 		JBrowse link
G Trpm3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More... NCBI chrNW_004936503:6,688,476...7,188,417
Ensembl chrNW_004936503:6,690,043...7,497,963 		JBrowse link
G Trrap transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741898 NCBI chrNW_004936750:1,245,926...1,360,226
Ensembl chrNW_004936750:1,248,320...1,359,473 		JBrowse link
G Tsen15 tRNA splicing endonuclease subunit 15 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 PMID:25741868 PMID:27392077 NCBI chrNW_004936481:5,901,078...5,916,455
Ensembl chrNW_004936481:5,900,622...5,918,113 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004936594:744,531...753,350
Ensembl chrNW_004936594:744,494...753,350 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:8954020 PMID:8964822 PMID:12050212 PMID:16117192 PMID:19417038 More... NCBI chrNW_004936488:9,428,053...9,560,856
Ensembl chrNW_004936488:9,427,962...9,560,685 		JBrowse link
G Tubb4a tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18851904 PMID:24526230 PMID:24785942 PMID:24850488 PMID:25741868 More... NCBI chrNW_004936588:3,821,171...3,826,827
Ensembl chrNW_004936588:3,821,110...3,826,940 		JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:35977029 NCBI chrNW_004936580:3,913,460...3,960,026
Ensembl chrNW_004936580:3,914,468...3,959,789 		JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936471:41,187,665...41,290,345
Ensembl chrNW_004936471:41,187,612...41,283,517 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chrNW_004936733:1,127,150...1,147,192
Ensembl chrNW_004936733:1,127,145...1,147,210 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936845:268,357...454,557
Ensembl chrNW_004936845:268,919...454,031 		JBrowse link
G Usp9x ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:36937954 NCBI chrNW_004936502:7,649,808...7,732,731
Ensembl chrNW_004936502:7,649,842...7,735,382 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15141358 PMID:15173253 PMID:16199547 PMID:16648375 PMID:20461111 More... NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chrNW_004936604:3,985,002...4,016,870
Ensembl chrNW_004936604:3,984,872...4,016,911 		JBrowse link
G Wdfy4 WDFY family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chrNW_004936728:1,262,433...1,503,805
Ensembl chrNW_004936728:1,262,771...1,503,804 		JBrowse link
G Wdr20 WD repeat domain 20 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936835:355,300...428,723
Ensembl chrNW_004936835:355,288...428,725 		JBrowse link
G Wdr37 WD repeat domain 37 ISO 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 chrNW_004936484:12,948,803...13,020,555
Ensembl chrNW_004936484:12,948,358...13,018,631 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176820 PMID:23687123 PMID:24368176 PMID:24621584 PMID:25356899 More... NCBI chrNW_004936721:975,113...981,149
Ensembl chrNW_004936721:975,104...981,731 		JBrowse link
G Wdr70 WD repeat domain 70 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936518:4,343,919...4,623,136
Ensembl chrNW_004936518:4,343,962...4,623,015 		JBrowse link
G Wwox WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16199547 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 More... NCBI chrNW_004936475:26,342,245...27,209,563
Ensembl chrNW_004936475:26,342,220...27,208,711 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27633801 PMID:33490854 NCBI chrNW_004936474:15,691,838...15,721,308
Ensembl chrNW_004936474:15,691,842...15,721,953 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:36937954 NCBI chrNW_004936526:6,706,035...6,714,011
Ensembl chrNW_004936526:6,705,983...6,712,281 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24721225 NCBI chrNW_004936762:360,581...376,509
Ensembl chrNW_004936762:361,032...376,513 		JBrowse link
G Zmynd11 zinc finger MYND-type containing 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25281490 PMID:25741868 PMID:25741899 PMID:27334371 PMID:28191890 More... NCBI chrNW_004936484:13,779,266...13,872,042
Ensembl chrNW_004936484:13,779,240...13,872,365 		JBrowse link
G Znf41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chrNW_004936502:13,176,781...13,226,872
Ensembl chrNW_004936502:13,178,189...13,227,257 		JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: 3MC syndrome 3 | ClinVar Annotator: match by term: COLEC10-related condition OMIM
ClinVar		 PMID:25741868 PMID:28301481 NCBI chrNW_004936470:27,416,471...27,449,206
Ensembl chrNW_004936470:27,416,494...27,449,206 		JBrowse link
G Colec11 collectin subfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chrNW_004936532:1,757,288...1,776,053
Ensembl chrNW_004936532:1,749,894...1,776,001 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chrNW_004936578:2,804,460...2,857,731
Ensembl chrNW_004936578:2,804,460...2,869,582 		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 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:8,064,708...8,078,968
Ensembl chrNW_004936471:8,065,363...8,080,939 		JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:8,209,091...8,226,249
Ensembl chrNW_004936471:8,209,057...8,226,353 		JBrowse link
G CUNH15orf48 chromosome unknown C15orf48 homolog ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:8,086,731...8,090,540
Ensembl chrNW_004936471:8,087,717...8,090,242 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,848,472...7,881,417
Ensembl chrNW_004936471:7,848,472...7,879,390 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,812,163...7,831,258
Ensembl chrNW_004936471:7,813,128...7,831,258 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,836,790...7,846,437
Ensembl chrNW_004936471:7,836,096...7,846,453 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,832,234...7,835,488
Ensembl chrNW_004936471:7,832,234...7,835,476 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chrNW_004936471:8,017,611...8,032,703
Ensembl chrNW_004936471:8,017,603...8,032,703 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,618,841...7,630,214
Ensembl chrNW_004936471:7,620,215...7,630,214 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,881,484...7,901,583
Ensembl chrNW_004936471:7,879,141...7,901,589 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,937,490...7,967,568
Ensembl chrNW_004936471:7,937,490...7,967,568 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:8,125,839...8,155,720
Ensembl chrNW_004936471:8,125,759...8,155,726 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,760,097...7,805,475
Ensembl chrNW_004936471:7,760,052...7,795,671 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,540,647...7,618,783 JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,713,562...7,728,720
Ensembl chrNW_004936471:7,713,543...7,727,806 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004936471:7,664,655...7,702,243
Ensembl chrNW_004936471:7,665,218...7,702,243 		JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies OMIM
ClinVar		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791 		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 ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:32593294 More... NCBI chrNW_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540 		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 ISO ClinVar Annotator: match by term: ASXL3-related condition | ClinVar Annotator: match by term: ASXL3-related disorder | ClinVar Annotator: match by term: Bainbridge-Ropers syndrome OMIM
ClinVar		 PMID:23383720 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26539891 More... NCBI chrNW_004936517:11,064,986...11,074,992
Ensembl chrNW_004936517:11,064,987...11,165,956 		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 ISO 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 chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Thoc6 THO complex subunit 6 ISO 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 chrNW_004936694:1,144,122...1,147,345
Ensembl chrNW_004936694:1,143,345...1,147,345 		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 ISO ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency | ClinVar Annotator: match by term: TET3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29531217 PMID:30167849 PMID:31928709 More... NCBI chrNW_004936556:292,551...391,644
Ensembl chrNW_004936556:292,586...385,741 		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 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chrNW_004936523:9,037,516...9,485,257
Ensembl chrNW_004936523:9,037,490...9,486,495 		JBrowse link
G Kiaa0825 KIAA0825 ortholog ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chrNW_004936523:8,634,617...9,015,742
Ensembl chrNW_004936523:8,634,620...9,018,309 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2 group F member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome | ClinVar Annotator: match by term: NR2F1-related condition OMIM
ClinVar		 PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chrNW_004936523:9,508,204...9,517,266
Ensembl chrNW_004936523:9,507,965...9,517,272 		JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chrNW_004936523:9,360,876...9,363,054
Ensembl chrNW_004936523:9,361,749...9,362,814 		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 ISO ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28257692 NCBI chrNW_004936469:1,523,667...1,525,830 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 ISO 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 chrNW_004936529:1,889,811...2,023,710
Ensembl chrNW_004936529:1,889,846...2,023,715 		JBrowse link
G Heatr5b HEAT repeat containing 5B ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar NCBI chrNW_004936663:1,177,283...1,245,840
Ensembl chrNW_004936663:1,178,221...1,258,280 		JBrowse link
G LOC101977457 cytochrome b561 domain-containing protein 2 ISO ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay ClinVar PMID:25741868 PMID:28492532 PMID:29997391 NCBI chrNW_004936529:1,878,745...1,880,073
Ensembl chrNW_004936529:1,878,362...1,879,744 		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 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 More... NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365 		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 Prdm13 PR/SET domain 13 ISO 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 chrNW_004936651:1,199,928...1,208,697
Ensembl chrNW_004936651:1,200,089...1,207,872 		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 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004936470:37,734,149...38,137,252
Ensembl chrNW_004936470:37,734,147...38,137,679 		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 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936474:11,824,692...11,846,355
Ensembl chrNW_004936474:11,824,697...11,876,817 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936543:5,146,961...6,187,634 JBrowse link
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568 		JBrowse link
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492 		JBrowse link
G Ddx3x DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chrNW_004936502:7,770,896...7,820,555
Ensembl chrNW_004936502:7,804,824...7,820,569 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chrNW_004936927:134,770...144,057 JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936675:1,275,500...1,334,878
Ensembl chrNW_004936675:1,275,470...1,333,540 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004936628:2,862,536...2,912,784
Ensembl chrNW_004936628:2,862,617...2,912,790 		JBrowse link
G Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chrNW_004936495:2,799,738...2,933,157
Ensembl chrNW_004936495:2,800,384...2,931,856 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936762:1,062,570...1,194,192
Ensembl chrNW_004936762:1,061,526...1,187,863 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		JBrowse link
G LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936474:21,053,755...21,401,336
Ensembl chrNW_004936474:21,178,791...21,400,147 		JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chrNW_004936635:6,966...243,209
Ensembl chrNW_004936635:6,923...244,408 		JBrowse link
G Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chrNW_004936470:37,734,149...38,137,252
Ensembl chrNW_004936470:37,734,147...38,137,679 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chrNW_004936492:3,011,752...3,060,962
Ensembl chrNW_004936492:3,011,772...3,060,986 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chrNW_004936530:7,630,668...7,648,658
Ensembl chrNW_004936530:7,630,637...7,648,676 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chrNW_004936510:4,281,847...4,343,271
Ensembl chrNW_004936510:4,281,626...4,343,276 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936588:2,642,730...2,654,520
Ensembl chrNW_004936588:2,642,859...2,653,742 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004936477:4,335,945...4,368,117
Ensembl chrNW_004936477:4,336,059...4,368,901 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936958:64,713...113,627 JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004936594:744,531...753,350
Ensembl chrNW_004936594:744,494...753,350 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chrNW_004936503:2,407,040...2,440,366
Ensembl chrNW_004936503:2,405,689...2,440,502 		JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chrNW_004936484:12,948,803...13,020,555
Ensembl chrNW_004936484:12,948,358...13,018,631 		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 ISO ClinVar Annotator: match by term: BRF1-related condition | ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chrNW_004936621:265,834...329,255
Ensembl chrNW_004936621:265,829...328,040 		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 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,322,198...4,326,562
Ensembl chrNW_004936511:4,322,198...4,329,686 		JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,763,894...4,775,360
Ensembl chrNW_004936565:4,763,779...4,778,250 		JBrowse link
G Arl11 ARF like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,686,783...2,687,377 JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,694,294...4,763,661
Ensembl chrNW_004936565:4,694,281...4,763,773 		JBrowse link
G Bora BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,107,476...8,134,677
Ensembl chrNW_004936511:8,107,756...8,134,683 		JBrowse link
G Cab39l calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,415,225...2,536,311
Ensembl chrNW_004936565:2,417,309...2,472,189 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,336,613...2,395,816
Ensembl chrNW_004936565:2,336,744...2,387,195 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,872,142...4,896,449
Ensembl chrNW_004936565:4,871,414...4,881,597 		JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,283,016...4,291,968
Ensembl chrNW_004936511:4,283,009...4,292,376 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:599,703...624,821
Ensembl chrNW_004936667:599,711...624,999 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,591,851...5,596,998
Ensembl chrNW_004936511:5,591,848...5,600,270 		JBrowse link
G CUNH13orf42 chromosome unknown C13orf42 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,936,666...3,964,309
Ensembl chrNW_004936565:3,936,666...3,964,309 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,917,970...1,919,027 JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,899,245...9,253,024
Ensembl chrNW_004936511:9,061,676...9,253,486 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:1,381,025...1,833,890
Ensembl chrNW_004936705:1,380,445...1,731,280 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,082,909...8,105,203
Ensembl chrNW_004936511:8,082,406...8,108,233 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,706,566...3,722,689
Ensembl chrNW_004936565:3,706,538...3,722,802 		JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,706,788...2,731,453
Ensembl chrNW_004936565:2,706,788...2,731,453 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,058,280...4,106,803
Ensembl chrNW_004936565:4,080,867...4,105,740 		JBrowse link
G Fbxl3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,259,066...4,280,501
Ensembl chrNW_004936511:4,258,548...4,283,285 		JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,154,672...2,312,670
Ensembl chrNW_004936565:2,154,599...2,312,862 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,198,659...4,282,443
Ensembl chrNW_004936565:4,199,195...4,282,443 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,535,570...1,557,667
Ensembl chrNW_004936565:1,535,779...1,557,013 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,991,568...2,997,592
Ensembl chrNW_004936565:2,991,410...2,997,557 		JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,389,558...4,395,630
Ensembl chrNW_004936511:4,389,755...4,390,738 		JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:6,992,131...7,292,484
Ensembl chrNW_004936511:6,854,995...7,283,347 		JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,806,714...7,824,833
Ensembl chrNW_004936511:7,806,708...7,824,992 		JBrowse link
G Klhl1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:10,511,200...10,879,121
Ensembl chrNW_004936511:10,511,192...10,879,146 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,738,003...2,775,814
Ensembl chrNW_004936565:2,737,218...2,775,798 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,292,737...5,501,374 JBrowse link
G LOC101972150 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:716,802...721,441
Ensembl chrNW_004936667:716,625...721,503 		JBrowse link
G LOC101978403 histone-lysine N-methyltransferase SETDB2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,536,623...2,607,824
Ensembl chrNW_004936565:2,591,305...2,606,130
Ensembl chrNW_004936565:2,591,305...2,606,130 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,397,434...1,414,674
Ensembl chrNW_004936565:1,396,088...1,415,248 		JBrowse link
G Mlnr motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,321,799...2,326,871
Ensembl chrNW_004936565:2,323,966...2,328,535 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,977,950...4,248,959
Ensembl chrNW_004936511:3,978,246...4,249,234 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,134,607...8,149,923 JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,063,630...2,123,214
Ensembl chrNW_004936511:2,063,144...2,124,037 		JBrowse link
G Nek3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,840,416...4,863,349
Ensembl chrNW_004936565:4,840,894...4,863,301 		JBrowse link
G Nek5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,779,843...4,836,093
Ensembl chrNW_004936565:4,779,933...4,836,093 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,380,981...1,389,908
Ensembl chrNW_004936565:1,381,655...1,389,048 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,800,466...2,847,896
Ensembl chrNW_004936511:2,800,425...2,848,628 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:905,556...923,105
Ensembl chrNW_004936667:907,473...922,291 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936820:764,016...860,325
Ensembl chrNW_004936820:765,100...861,667 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:326,349...332,242 JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936553:424,425...971,388
Ensembl chrNW_004936553:424,988...1,272,450 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,860,552...8,082,850
Ensembl chrNW_004936511:7,860,590...8,081,525 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,857,017...2,859,705
Ensembl chrNW_004936511:2,857,331...2,859,277 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,175,192...2,252,955
Ensembl chrNW_004936511:2,175,374...2,249,195 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604 		JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,750,565...1,789,779
Ensembl chrNW_004936565:1,750,105...1,789,737 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,696,150...3,794,031
Ensembl chrNW_004936511:3,694,543...3,794,086 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,167,734...4,198,573
Ensembl chrNW_004936565:4,168,895...4,197,662 		JBrowse link
G Slain1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,615,251...3,671,429
Ensembl chrNW_004936511:3,614,303...3,671,847 		JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936696:1,447,644...1,452,612
Ensembl chrNW_004936696:1,449,687...1,451,777 		JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936866:412,719...419,381
Ensembl chrNW_004936866:412,818...419,381 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:1,452,421...1,458,031
Ensembl chrNW_004936511:1,452,807...1,458,031 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,911,523...2,939,151
Ensembl chrNW_004936565:2,908,169...2,939,232 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,313,150...1,355,693
Ensembl chrNW_004936565:1,313,150...1,355,693 		JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:556,555...588,585
Ensembl chrNW_004936667:556,533...588,160 		JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,789,683...5,858,930
Ensembl chrNW_004936511:5,673,368...5,856,631 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:11,258,898...11,348,522 JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054 		JBrowse link
G Tmem272 transmembrane protein 272 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G Trim13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,976,681...2,989,036
Ensembl chrNW_004936565:2,976,729...2,989,088 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,524,425...5,581,156
Ensembl chrNW_004936511:5,522,965...5,581,334 		JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,898,969...4,921,411 JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,375,012...4,527,259
Ensembl chrNW_004936565:4,375,462...4,520,691 		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 ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chrNW_004936538:6,674,595...6,819,511
Ensembl chrNW_004936538:6,674,907...6,816,674 		JBrowse link
G Bhlha9 basic helix-loop-helix family member a9 ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chrNW_004936538:6,558,044...6,559,193 JBrowse link
G Crk CRK proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chrNW_004936538:7,581,453...7,609,543
Ensembl chrNW_004936538:7,581,498...7,609,544 		JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chrNW_004936538:6,534,704...6,551,335
Ensembl chrNW_004936538:6,535,605...6,551,480 		JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chrNW_004936538:7,518,283...7,558,458
Ensembl chrNW_004936538:7,517,271...7,558,854 		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 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:1,284,215...1,289,362
Ensembl chrNW_004936784:1,283,886...1,289,965 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936833:551,989...843,064
Ensembl chrNW_004936833:551,799...844,121 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:940,300...954,959
Ensembl chrNW_004936784:940,168...955,412 		JBrowse link
G Fbxo45 F-box protein 45 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:1,162,950...1,177,407
Ensembl chrNW_004936784:1,162,950...1,179,068 		JBrowse link
G LOC101977244 zinc finger DHHC-type palmitoyltransferase 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:748,381...833,841 JBrowse link
G Meltf melanotransferrin ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936833:853,925...875,069
Ensembl chrNW_004936833:853,007...875,547 		JBrowse link
G Ncbp2 nuclear cap binding protein subunit 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936833:920,683...928,047
Ensembl chrNW_004936833:920,674...928,047 		JBrowse link
G Ncbp2as2 NCBP2 antisense 2 (head to head) ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar Ensembl chrNW_004936833:920,225...920,524 JBrowse link
G Nrros negative regulator of reactive oxygen species ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:1,222,381...1,250,501
Ensembl chrNW_004936784:1,222,042...1,250,565 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:1,351,034...1,391,992
Ensembl chrNW_004936784:1,351,039...1,391,992 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:884,751...938,901
Ensembl chrNW_004936784:884,751...938,282 		JBrowse link
G Pigx phosphatidylinositol glycan anchor biosynthesis class X ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:1,288,937...1,313,469
Ensembl chrNW_004936784:1,289,671...1,312,744 		JBrowse link
G Pigz phosphatidylinositol glycan anchor biosynthesis class Z ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936833:902,002...918,321 JBrowse link
G Rnf168 ring finger protein 168 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:1,073,236...1,094,575 JBrowse link
G Slc51a solute carrier family 51 member A ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:864,019...887,755
Ensembl chrNW_004936784:866,350...884,355 		JBrowse link
G Smco1 single-pass membrane protein with coiled-coil domains 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:1,100,262...1,105,078
Ensembl chrNW_004936784:1,100,495...1,105,058 		JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:696,738...728,385
Ensembl chrNW_004936784:696,713...728,543 		JBrowse link
G Tm4sf19 transmembrane 4 L six family member 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:959,924...964,175
Ensembl chrNW_004936784:959,921...964,175 		JBrowse link
G Tnk2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:636,105...685,080
Ensembl chrNW_004936784:636,139...685,210 		JBrowse link
G Ubxn7 UBX domain protein 7 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:987,411...1,038,483 JBrowse link
G Wdr53 WD repeat domain 53 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chrNW_004936784:1,149,208...1,162,661
Ensembl chrNW_004936784:1,149,125...1,162,679 		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 ISO ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay ClinVar
OMIM		 PMID:25741868 PMID:30976112 NCBI chrNW_004936498:5,305,680...5,315,580
Ensembl chrNW_004936498:5,305,545...5,315,539 		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 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,755,799...42,782,479 JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,626,523...40,675,435
Ensembl chrNW_004936470:40,623,553...40,675,598 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,801,943...40,832,543
Ensembl chrNW_004936470:40,801,943...40,834,003 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,506,596...40,590,537
Ensembl chrNW_004936470:40,508,338...40,579,585 		JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,381,215...40,392,105
Ensembl chrNW_004936470:40,377,835...40,392,225 		JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,321,103...40,357,001
Ensembl chrNW_004936470:40,320,073...40,356,993 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,664,573...39,671,532
Ensembl chrNW_004936470:39,664,511...39,671,532 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,564,431...39,637,394
Ensembl chrNW_004936470:39,564,335...39,637,544 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,091,516...43,100,973
Ensembl chrNW_004936470:43,088,714...43,100,973 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,416,254...40,454,717
Ensembl chrNW_004936470:40,416,014...40,454,062 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,856,683...41,961,666
Ensembl chrNW_004936470:41,859,035...42,002,844 		JBrowse link
G Kcns2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004936470:44,455,117...44,460,193
Ensembl chrNW_004936470:44,456,526...44,460,327 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,980,487...40,986,880
Ensembl chrNW_004936470:40,980,487...40,986,885 		JBrowse link
G LOC101970194 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,269,744...43,280,886
Ensembl chrNW_004936470:43,269,711...43,283,683 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,459,395...39,542,125
Ensembl chrNW_004936470:39,459,002...39,544,577 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,573,238...41,852,349
Ensembl chrNW_004936470:41,573,238...41,852,337 		JBrowse link
G Nipal2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,588,211...44,645,860
Ensembl chrNW_004936470:44,588,168...44,646,651 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,069,033...41,078,020
Ensembl chrNW_004936470:41,069,033...41,078,020 		JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004936470:44,024,497...44,032,429
Ensembl chrNW_004936470:44,024,439...44,032,429 		JBrowse link
G Pabpc1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,628,890...42,670,311
Ensembl chrNW_004936470:42,628,667...42,643,347 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,079,377...43,083,251
Ensembl chrNW_004936470:43,081,284...43,083,236 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:44,676,798...44,710,397
Ensembl chrNW_004936470:44,676,776...44,710,716 		JBrowse link
G Rgs22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:43,135,410...43,225,788
Ensembl chrNW_004936470:43,122,822...43,219,279 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:39,725,092...40,270,268
Ensembl chrNW_004936470:39,723,091...40,270,267 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,965,790...43,007,487
Ensembl chrNW_004936470:42,965,284...43,007,487 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:40,357,066...40,370,514
Ensembl chrNW_004936470:40,357,446...40,370,514 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,684,346...42,743,001
Ensembl chrNW_004936470:42,684,346...42,742,092 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936470:43,015,688...43,078,158
Ensembl chrNW_004936470:43,016,575...43,075,239 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chrNW_004936470:44,159,449...44,436,295
Ensembl chrNW_004936470:44,159,419...44,436,330 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:41,222,782...41,345,755
Ensembl chrNW_004936470:41,252,951...41,344,134 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,444,671...42,470,548
Ensembl chrNW_004936470:42,445,412...42,470,900 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		JBrowse link
G Znf706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004936470:42,245,657...42,253,492
Ensembl chrNW_004936470:42,245,765...42,251,590 		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 ISO ClinVar Annotator: match by term: CDK13-related disorder | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder OMIM
ClinVar		 PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 More... NCBI chrNW_004936478:15,296,055...15,387,749
Ensembl chrNW_004936478:15,296,055...15,388,309 		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 ISO 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 PMID:39825153 NCBI chrNW_004936709:886,571...894,746
Ensembl chrNW_004936709:887,455...894,727 		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 ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM
ClinVar		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 More... NCBI chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638 		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 ISO 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 chrNW_004936597:2,708,001...2,709,702
Ensembl chrNW_004936597:2,708,691...2,709,425 		JBrowse link
DeSanto-Shinawi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: 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 OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 More... NCBI chrNW_004936613:2,793,706...2,862,984
Ensembl chrNW_004936613:2,794,732...2,865,913 		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 ISO 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 chrNW_004936473:10,906,059...11,001,007
Ensembl chrNW_004936473:10,904,989...11,001,051 		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 ISO ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities | ClinVar Annotator: match by term: GOLGA2-related condition ClinVar
OMIM		 PMID:25741868 PMID:30237576 PMID:34424553 NCBI chrNW_004936487:15,798,623...15,814,360 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 Trrap transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: 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 chrNW_004936750:1,245,926...1,360,226
Ensembl chrNW_004936750:1,248,320...1,359,473 		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 ISO DNA:mutations:cds:multiples RGD PMID:30291340 RGD:155598678 NCBI chrNW_004936471:800,510...1,006,054
Ensembl chrNW_004936471:798,739...1,006,047 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY 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 OMIM
ClinVar		 PMID:7768349 PMID:25741868 PMID:28492532 PMID:31230721 PMID:33565190 More... NCBI chrNW_004936538:5,531,639...5,668,119
Ensembl chrNW_004936538:5,531,633...5,659,239 		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 ISO 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 chrNW_004936659:2,794,520...2,822,795
Ensembl chrNW_004936659:2,794,520...2,822,848 		JBrowse link
developmental delay, hypotonia, and impaired language term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:30510140 More... NCBI chrNW_004936689:2,261,163...2,449,951
Ensembl chrNW_004936689:2,259,477...2,344,764 		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 ISO 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 OMIM
ClinVar		 PMID:11522779 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 More... NCBI chrNW_004936501:13,095,690...13,131,183
Ensembl chrNW_004936501:13,096,840...13,131,183 		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 ISO ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy OMIM
ClinVar		 PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 More... NCBI chrNW_004936755:133,315...171,507
Ensembl chrNW_004936755:130,983...171,492 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004936479:10,024,674...10,041,738
Ensembl chrNW_004936479:10,024,705...10,041,590 		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 ISO 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 chrNW_004936491:920,830...1,108,374
Ensembl chrNW_004936491:956,986...1,108,640 		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 ISO 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 chrNW_004936496:6,807,388...6,914,960
Ensembl chrNW_004936496:6,807,403...6,914,987 		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 ISO 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 chrNW_004936510:11,220,194...11,242,485
Ensembl chrNW_004936510:11,217,024...11,242,667 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 More... NCBI chrNW_004936510:11,076,790...11,198,483
Ensembl chrNW_004936510:11,076,785...11,193,689 		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 Manf mesencephalic astrocyte derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome ClinVar
OMIM		 PMID:25741868 PMID:26077850 PMID:33500254 NCBI chrNW_004936529:2,774,651...2,777,960
Ensembl chrNW_004936529:2,774,543...2,779,579 		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 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:31412107 NCBI chrNW_004936482:16,703,936...16,706,224
Ensembl chrNW_004936482:16,704,193...16,705,729 		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 ISO 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 chrNW_004936538:8,100,977...8,110,704
Ensembl chrNW_004936538:8,100,932...8,114,592 		JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chrNW_004936474:25,288,714...25,292,287
Ensembl chrNW_004936474:25,288,250...25,293,382 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: EEF2-related condition ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936588:2,259,236...2,267,692
Ensembl chrNW_004936588:2,258,309...2,266,609 		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 ISO ClinVar Annotator: match by term: DPH1-related condition | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 OMIM
ClinVar		 PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chrNW_004936538:8,100,977...8,110,704
Ensembl chrNW_004936538:8,100,932...8,114,592 		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 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 OMIM
ClinVar		 PMID:25741868 PMID:27421267 PMID:32576952 NCBI chrNW_004936474:25,288,714...25,292,287
Ensembl chrNW_004936474:25,288,250...25,293,382 		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 ISO ClinVar Annotator: match by term: Epilepsy, early-onset, with or without developmental delay ClinVar
OMIM		 PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:28492532 More... NCBI chrNW_004936501:13,339,426...13,363,551
Ensembl chrNW_004936501:13,341,511...13,363,545 		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 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:514,883...520,223
Ensembl chrNW_004936595:514,534...520,223 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:416,013...423,872
Ensembl chrNW_004936595:415,955...424,392 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:550,359...552,214
Ensembl chrNW_004936595:550,568...552,632 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:537,131...543,341
Ensembl chrNW_004936595:536,297...543,071 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:487,918...513,843
Ensembl chrNW_004936595:485,554...513,815 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:520,299...528,361
Ensembl chrNW_004936595:520,548...528,371 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar		 PMID:25741868 PMID:31690835 PMID:33547280 NCBI chrNW_004936595:604,268...609,075 JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:544,091...550,114
Ensembl chrNW_004936595:544,251...550,114 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:534,042...536,289
Ensembl chrNW_004936595:533,977...536,271 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:608,730...611,871
Ensembl chrNW_004936595:609,232...611,845 		JBrowse link
G LOC101966831 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:475,816...479,180
Ensembl chrNW_004936595:476,438...479,030 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:612,068...624,494
Ensembl chrNW_004936595:612,070...624,693 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:528,832...533,212
Ensembl chrNW_004936595:528,516...533,235 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:567,267...574,051
Ensembl chrNW_004936595:567,219...574,059 		JBrowse link
G Ybx2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chrNW_004936595:574,264...579,959
Ensembl chrNW_004936595:574,089...579,959 		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 ISO ClinVar Annotator: match by term: Forebrain defects ClinVar PMID:11062482 PMID:12073012 NCBI chrNW_004936596:451,483...453,892 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 ISO ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay | ClinVar Annotator: match by term: SH3PXD2B-related condition OMIM
ClinVar		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chrNW_004936609:2,934,814...2,975,111
Ensembl chrNW_004936609:2,926,771...2,978,914 		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 ISO 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 PMID:39825153 NCBI chrNW_004936543:1,482,606...1,781,294
Ensembl chrNW_004936543:1,485,970...1,796,070 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development ClinVar PMID:25741868 NCBI chrNW_004936538:5,531,639...5,668,119
Ensembl chrNW_004936538:5,531,633...5,659,239 		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 chrNW_004936669:3,363,991...3,397,099
Ensembl chrNW_004936669:3,363,867...3,397,402 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO 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 chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165 		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 Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies ClinVar PMID:9070917 NCBI chrNW_004936492:357,732...368,042
Ensembl chrNW_004936492:357,665...372,008 		JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition OMIM
ClinVar		 PMID:12840224 PMID:25741868 PMID:27964749 PMID:28492532 PMID:36444493 NCBI chrNW_004936725:6,968...89,762
Ensembl chrNW_004936725:6,962...83,034 		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 ISO 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 chrNW_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689 		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 ISO ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine OMIM
ClinVar		 PMID:25741868 PMID:30970188 NCBI chrNW_004936506:7,237,099...7,314,011
Ensembl chrNW_004936506:7,237,099...7,313,976 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH18orf32 chromosome unknown C18orf32 homolog ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 OMIM
ClinVar		 PMID:28492532 PMID:35107634 NCBI chrNW_004936497:13,461,948...13,466,697
Ensembl chrNW_004936497:13,461,964...13,469,609 		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 ISO 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 ClinVar
OMIM		 PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 More... NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		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 ISO ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome OMIM
ClinVar		 PMID:11836534 PMID:15456878 PMID:16357870 PMID:23849776 PMID:25741868 More... NCBI chrNW_004936493:6,963,406...7,013,256
Ensembl chrNW_004936493:6,935,386...7,007,610 		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 ISO ClinVar Annotator: match by term: Hiatt-Neu-Cooper neurodevelopmental syndrome | ClinVar Annotator: match by term: RALA-related condition OMIM
ClinVar		 PMID:11701921 PMID:15950903 PMID:15980073 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936478:15,167,651...15,186,594
Ensembl chrNW_004936478:15,167,751...15,186,633 		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 ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chrNW_004936521:4,560,078...5,023,780
Ensembl chrNW_004936521:4,557,971...5,023,800 		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 ISO ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31155284 NCBI chrNW_004936694:2,444,321...2,467,734
Ensembl chrNW_004936694:2,444,343...2,467,733 		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 ISO ClinVar Annotator: match by term: EBF3-related disorder | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome OMIM
ClinVar		 PMID:19627984 PMID:20300201 PMID:25741868 PMID:28017370 PMID:28017372 More... NCBI chrNW_004936486:16,978,048...17,092,209
Ensembl chrNW_004936486:16,976,442...17,092,228 		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 ISO 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 chrNW_004936477:22,032,712...22,055,160
Ensembl chrNW_004936477:22,032,664...22,055,187 		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 ISO 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 chrNW_004936472:8,370,607...8,438,376
Ensembl chrNW_004936472:8,369,736...8,438,412 		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 ISO 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 chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262 		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 ISO 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 chrNW_004936500:5,002,668...5,164,511
Ensembl chrNW_004936500:5,065,107...5,239,854 		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 ISO ClinVar Annotator: match by term: AFF3-related condition | ClinVar Annotator: match by term: KINSSHIP syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31388108 PMID:33961779 NCBI chrNW_004936661:771,265...1,264,456
Ensembl chrNW_004936661:771,265...1,262,166 		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 ISO 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 chrNW_004936473:10,906,059...11,001,007
Ensembl chrNW_004936473:10,904,989...11,001,051 		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 susceptibility ISO ClinVar Annotator: match by term: Kury-Isidor syndrome OMIM
ClinVar		 PMID:16341802 PMID:19197335 PMID:21874000 PMID:23684012 PMID:24970262 More... NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806 		JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Kury-Isidor syndrome ClinVar PMID:25741868 PMID:29758562 NCBI chrNW_004936473:3,248,004...3,261,491
Ensembl chrNW_004936473:3,247,998...3,261,483 		JBrowse link
Lamb-Shaffer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Lamb-Shaffer syndrome | ClinVar Annotator: match by term: SOX5-related condition OMIM
ClinVar		 PMID:22290657 PMID:23220431 PMID:23498568 PMID:25741868 PMID:26111154 More... NCBI chrNW_004936548:3,213,305...3,599,876
Ensembl chrNW_004936548:3,213,466...3,599,425 		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 ISO 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 chrNW_004936663:1,127,047...1,157,263
Ensembl chrNW_004936663:1,126,977...1,157,137 		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 ISO ClinVar Annotator: match by term: Li-Campeau syndrome ClinVar PMID:33340455 NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Li-Campeau syndrome OMIM
ClinVar		 PMID:25741868 PMID:33340455 NCBI chrNW_004936733:1,127,150...1,147,192
Ensembl chrNW_004936733:1,127,145...1,147,210 		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 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chrNW_004936527:6,478,934...6,483,848
Ensembl chrNW_004936527:6,478,982...6,483,866 		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 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chrNW_004936533:7,588,965...7,596,467
Ensembl chrNW_004936533:7,588,950...7,596,696 		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 ISO ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30824121 NCBI chrNW_004936794:1,115,111...1,165,286
Ensembl chrNW_004936794:1,115,257...1,165,270 		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 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chrNW_004936471:4,705,757...4,732,446
Ensembl chrNW_004936471:4,705,866...4,731,903 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chrNW_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035 		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 ISO 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 OMIM
ClinVar		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chrNW_004936694:2,051,362...2,053,812
Ensembl chrNW_004936694:2,051,325...2,053,818 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		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 ISO ClinVar Annotator: match by term: Atelis syndrome 1 ClinVar
OMIM		 PMID:36333305 NCBI chrNW_004936600:4,715,504...4,766,273
Ensembl chrNW_004936600:4,721,327...4,765,915 		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 ISO ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:36001086 NCBI chrNW_004936677:3,164,290...3,166,734
Ensembl chrNW_004936677:3,164,070...3,166,102 		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 ISO 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 chrNW_004936544:7,784,093...7,839,646
Ensembl chrNW_004936544:7,784,242...7,839,565 		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 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar		 PMID:25741868 PMID:32639540 NCBI chrNW_004936633:1,657,326...1,848,113
Ensembl chrNW_004936633:1,657,320...1,848,407 		JBrowse link
G Hus1b HUS1 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chrNW_004936633:1,820,063...1,821,150 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 Zftraf1 zinc finger TRAF-type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chrNW_004936470:7,799,304...7,813,420
Ensembl chrNW_004936470:7,799,298...7,815,737 		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 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar
OMIM		 PMID:25741868 PMID:35482014 NCBI chrNW_004936748:1,000,247...1,032,966
Ensembl chrNW_004936748:996,321...1,033,533 		JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chrNW_004936748:910,542...985,601
Ensembl chrNW_004936748:910,511...987,094 		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 Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar		 PMID:33443317 NCBI chrNW_004936487:18,523,979...18,711,584
Ensembl chrNW_004936487:18,523,010...18,711,618 		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 ISO ClinVar Annotator: match by term: Nizon-Isidor syndrome ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chrNW_004936664:577,109...586,848
Ensembl chrNW_004936664:578,126...586,795 		JBrowse link
G Med12l mediator complex subunit 12L ISO 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 chrNW_004936758:1,384,616...1,656,621
Ensembl chrNW_004936758:1,385,854...1,656,608 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: MED12L-related condition | ClinVar Annotator: match by term: Nizon-Isidor syndrome ClinVar PMID:25741868 PMID:31155615 PMID:35802134 NCBI chrNW_004936758:1,581,828...1,624,332
Ensembl chrNW_004936758:1,581,897...1,592,222 		JBrowse link
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:15494731 PMID:17576681 PMID:25741868 PMID:27884935 More... NCBI chrNW_004936680:267,850...621,467
Ensembl chrNW_004936680:267,596...615,928 		JBrowse link
Ogden syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Ogden syndrome OMIM
ClinVar		 PMID:18414213 PMID:21700266 PMID:23020937 PMID:24431331 PMID:25099252 More... NCBI chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288 		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 domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome OMIM
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		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 ISO ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ClinVar PMID:25741868 PMID:30250212 PMID:37046037 NCBI chrNW_004936594:215,165...223,715
Ensembl chrNW_004936594:215,155...223,771 		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 ISO ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay OMIM
ClinVar		 PMID:25741868 PMID:29036432 PMID:34450031 PMID:37734708 NCBI chrNW_004936540:1,467,169...1,493,218
Ensembl chrNW_004936540:1,467,169...1,493,258 		JBrowse link
osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine rich repeat kinase 1 ISO 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 chrNW_004936483:2,771,939...2,922,793
Ensembl chrNW_004936483:2,771,938...2,924,525 		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 Tubgcp2 tubulin gamma complex component 2 ISO 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 chrNW_004936486:19,404,651...19,423,601
Ensembl chrNW_004936486:19,402,526...19,421,976 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO 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 chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354 		JBrowse link
Pierpont syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome OMIM
ClinVar		 PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 More... NCBI chrNW_004936566:5,721,541...5,861,838
Ensembl chrNW_004936566:5,790,532...5,861,838 		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 ISO 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 chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093 		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 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:506,088...525,576
Ensembl chrNW_004936596:506,077...525,746 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675 		JBrowse link
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:707,841...756,285
Ensembl chrNW_004936596:703,943...756,362 		JBrowse link
G Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:228,135...239,343
Ensembl chrNW_004936529:227,969...239,349 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:223,660...224,739
Ensembl chrNW_004936596:223,660...224,739 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:55,788...59,251
Ensembl chrNW_004936695:55,788...59,251 		JBrowse link
G Ccrl2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:319,841...320,911 JBrowse link
G Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,657,411...1,680,109
Ensembl chrNW_004936596:1,659,159...1,678,788 		JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:348,938...381,701 JBrowse link
G Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:451,483...453,892 JBrowse link
G Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,235,550...1,251,100
Ensembl chrNW_004936596:1,235,545...1,251,166 		JBrowse link
G Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:31,641...44,561
Ensembl chrNW_004936596:37,067...38,092 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427 		JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,419,165...1,454,797
Ensembl chrNW_004936596:1,421,094...1,455,356 		JBrowse link
G Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,187,402...1,205,277
Ensembl chrNW_004936596:1,184,314...1,205,377 		JBrowse link
G Fbxw12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:156,881...175,568 JBrowse link
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:3,938...81,226
Ensembl chrNW_004936596:3,720...81,257 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674 		JBrowse link
G Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:952,028...1,010,889 JBrowse link
G Klhl18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,010,963...1,063,539
Ensembl chrNW_004936596:1,010,880...1,063,518 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011 		JBrowse link
G Limd1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:260,586...314,521
Ensembl chrNW_004936695:259,209...314,535 		JBrowse link
G LOC101956274 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230 		JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186 		JBrowse link
G LOC110599066 translation machinery-associated protein 7 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936624:659,521...659,879 JBrowse link
G Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:420,678...440,937
Ensembl chrNW_004936596:420,567...441,090 		JBrowse link
G Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:344,287...373,788
Ensembl chrNW_004936596:344,274...373,952 		JBrowse link
G Lztfl1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:106,216...118,408
Ensembl chrNW_004936695:106,175...121,606 		JBrowse link
G Map4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,455,705...1,546,007 JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110 		JBrowse link
G Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:758,495...789,252
Ensembl chrNW_004936596:758,495...789,168 		JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:474,978...485,333
Ensembl chrNW_004936529:471,913...485,389 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:88,929...96,207
Ensembl chrNW_004936529:88,949...96,236 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:304,090...346,281
Ensembl chrNW_004936529:303,843...342,935 		JBrowse link
G Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:197,834...226,064
Ensembl chrNW_004936529:200,210...221,227 		JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:528,138...601,078
Ensembl chrNW_004936529:528,114...601,122 		JBrowse link
G Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:541,918...544,866
Ensembl chrNW_004936596:541,918...546,364 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213 		JBrowse link
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,094,285...1,124,483
Ensembl chrNW_004936596:1,094,205...1,124,712 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265 		JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861 		JBrowse link
G Rtp3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:392,885...408,892 JBrowse link
G Sacm1l SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:196,238...253,128 JBrowse link
G Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,124,573...1,180,219
Ensembl chrNW_004936596:1,122,042...1,180,297 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:266,671...292,103
Ensembl chrNW_004936529:266,456...269,732 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:425,839...435,590
Ensembl chrNW_004936529:424,720...435,293 		JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:146,571...193,428
Ensembl chrNW_004936695:146,421...195,121 		JBrowse link
G Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,257,723...1,407,358
Ensembl chrNW_004936596:1,255,054...1,408,038 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:422,145...424,320
Ensembl chrNW_004936529:423,025...423,958 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:531,260...540,608
Ensembl chrNW_004936596:531,254...541,693 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:347,411...348,040 JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427 		JBrowse link
G Xcr1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:93,433...94,480
Ensembl chrNW_004936596:93,433...94,434 		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 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 OMIM
ClinVar		 PMID:18414213 PMID:19012351 PMID:20727516 PMID:25558065 PMID:25741868 More... NCBI chrNW_004936480:99,516...152,834
Ensembl chrNW_004936480:98,371...152,413 		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 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 | ClinVar Annotator: match by term: USP18-related condition OMIM
ClinVar		 PMID:12833411 PMID:25741868 PMID:27325888 PMID:28492532 PMID:31940699 NCBI chrNW_004936807:1,090,928...1,116,166
Ensembl chrNW_004936807:1,090,882...1,114,770 		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 ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 NCBI chrNW_004936646:747,178...763,449
Ensembl chrNW_004936646:748,727...761,287 		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 ISO 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 chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560 		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 ISO ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES | 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 chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560 		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 ISO 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 chrNW_004936659:1,982,343...1,990,277
Ensembl chrNW_004936659:1,981,723...1,990,322 		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 ISO ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic OMIM
ClinVar		 PMID:19863561 PMID:29180244 NCBI chrNW_004936471:3,838,507...3,849,521
Ensembl chrNW_004936471:3,838,612...3,848,751 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic OMIM
ClinVar		 PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 More... NCBI chrNW_004936623:3,672,201...3,696,959 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 Tkt transketolase ISO ClinVar Annotator: match by term: TKT-related condition | ClinVar Annotator: match by term: Transketolase deficiency OMIM
ClinVar		 PMID:25741868 PMID:27259054 PMID:28492532 NCBI chrNW_004936473:3,950,846...3,978,778
Ensembl chrNW_004936473:3,950,920...3,978,672 		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 ISO 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 chrNW_004936542:3,605,553...3,634,889
Ensembl chrNW_004936542:3,617,051...3,633,132 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: ARCN1-related condition ClinVar PMID:28492532 NCBI chrNW_004936542:3,577,387...3,597,954
Ensembl chrNW_004936542:3,577,580...3,597,859 		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 ISO 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 chrNW_004936530:2,491,924...2,498,579
Ensembl chrNW_004936530:2,491,879...2,498,717 		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 ISO 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 chrNW_004936577:2,814,464...2,834,068
Ensembl chrNW_004936577:2,814,390...2,832,790 		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 Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chrNW_004936694:153,958...161,635
Ensembl chrNW_004936694:153,959...161,635 		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 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency OMIM
ClinVar		 PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 More... NCBI chrNW_004936671:843,577...865,798
Ensembl chrNW_004936671:843,577...865,881 		JBrowse link
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chrNW_004936671:605,114...736,217
Ensembl chrNW_004936671:605,084...736,674 		JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 More... NCBI chrNW_004936671:780,173...827,628
Ensembl chrNW_004936671:782,135...827,771 		JBrowse link
G Mrs2 magnesium transporter MRS2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chrNW_004936671:761,071...779,713
Ensembl chrNW_004936671:761,071...779,713 		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 ISO ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32004446 NCBI chrNW_004936581:1,697,965...1,710,363
Ensembl chrNW_004936581:1,697,947...1,710,738 		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 ISO ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:14,136,209...14,138,940
Ensembl chrNW_004936490:14,136,640...14,138,969 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO 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 chrNW_004936490:14,139,125...14,150,377
Ensembl chrNW_004936490:14,138,980...14,150,756 		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 ISO 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 chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861 		JBrowse link
WEISS-KRUSZKA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf462 zinc finger protein 462 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28513610 PMID:31361404 PMID:32543299 More... NCBI chrNW_004936559:5,510,933...5,644,727
Ensembl chrNW_004936559:5,510,892...5,596,528 		JBrowse link
Zaki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wls Wnt ligand secretion mediator ISO ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34587386 NCBI chrNW_004936591:3,537,981...3,639,774
Ensembl chrNW_004936591:3,537,981...3,639,774 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    Developmental Disease 12849
      Neurodevelopmental Disorders 6437
        Developmental Disabilities 737
          3MC syndrome 3 3
          AGAT deficiency 17
          AMED syndrome 1
          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 4
          CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
          CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM 1
          CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY 1
          Cerebellar Atrophy with Seizures and Variable Developmental Delay 3
          Chitayat Moore Del Bigio Syndrome 0
          Chitty Hall Webb Syndrome 0
          Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
          Cohen syndrome 36
          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 1
          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 1
          DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES 1
          DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
          DeSanto-Shinawi syndrome 1
          Der Kaloustian Mcintosh Silver Syndrome 0
          Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
          Developmental Delay with or without Dysmorphic Facies and Autism 1
          Developmental Delay, Language Impairment, and Ocular Abnormalities 0
          Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
          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 2
          GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES 2
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 2
          Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
          Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
          Glycosylphosphatidylinositol Biosynthesis Defect 25 1
          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 1
          HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
          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 1
          LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
          Lamb-Shaffer Syndrome 1
          Li-Campeau Syndrome 2
          MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 1
          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 2
          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 1
          Nizon-Isidor Syndrome 3
          Non-Lissencephalic Cortical Dysplasia 0
          OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 1
          Obesity, Hyperphagia, and Developmental Delay 1
          Ogden syndrome 1
          Oliver-McFarlane syndrome 1
          Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 1
          Partington Anderson Syndrome 0
          Periventricular Nodular Heterotopia 7 1
          Pierpont syndrome 1
          Pseudo-TORCH Syndrome + 3
          Rajab Interstitial Lung Disease with Brain Calcifications + 2
          Refsum Disease with Increased Pipecolic Acidemia 0
          Roifman-Chitayat Syndrome 2
          SHORT STATURE-MICROGNATHIA SYNDROME 2
          Short Stature, Developmental Delay, and Congenital Heart Defects 1
          Siddiqi syndrome 1
          Snijders Blok-Fisher Syndrome 0
          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 1
          Zaki syndrome 1
          brachycephaly, trichomegaly, and developmental delay 1
          cerebellar hypoplasia + 99
          cerebellofaciodental syndrome 1
          chromosome 13q14 deletion syndrome 71
          chromosome 17p13.3 duplication syndrome 5
          chromosome 3q29 microdeletion syndrome 21
          chromosome Xp11.23-p11.22 duplication syndrome 0
          congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
          congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
          developmental delay, hypotonia, and impaired language 1
          developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 0
          diphthamide deficiency syndrome + 5
          early-onset epilepsy 2 1
          hypermethioninemia due to adenosine kinase deficiency 1
          hypotonia, ataxia, and delayed development syndrome 1
          microcephaly, seizures, and developmental delay 2
          osteosclerotic metaphyseal dysplasia 1
          pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
          sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
          spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
          succinic semialdehyde dehydrogenase deficiency 4
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        central nervous system disease 11282
          brain disease 10591
            disease of mental health 7614
              Neurodevelopmental Disorders 6437
                Developmental Disabilities 737
                  3MC syndrome 3 3
                  AGAT deficiency 17
                  AMED syndrome 1
                  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 4
                  CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1
                  CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM 1
                  CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY 1
                  Cerebellar Atrophy with Seizures and Variable Developmental Delay 3
                  Chitayat Moore Del Bigio Syndrome 0
                  Chitty Hall Webb Syndrome 0
                  Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
                  Cohen syndrome 36
                  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 1
                  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 1
                  DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES 1
                  DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
                  DeSanto-Shinawi syndrome 1
                  Der Kaloustian Mcintosh Silver Syndrome 0
                  Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
                  Developmental Delay with or without Dysmorphic Facies and Autism 1
                  Developmental Delay, Language Impairment, and Ocular Abnormalities 0
                  Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
                  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 2
                  GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES 2
                  GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 2
                  Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
                  Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
                  Glycosylphosphatidylinositol Biosynthesis Defect 25 1
                  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 1
                  HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
                  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 1
                  LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
                  Lamb-Shaffer Syndrome 1
                  Li-Campeau Syndrome 2
                  MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 1
                  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 2
                  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 1
                  Nizon-Isidor Syndrome 3
                  Non-Lissencephalic Cortical Dysplasia 0
                  OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 1
                  Obesity, Hyperphagia, and Developmental Delay 1
                  Ogden syndrome 1
                  Oliver-McFarlane syndrome 1
                  Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 1
                  Partington Anderson Syndrome 0
                  Periventricular Nodular Heterotopia 7 1
                  Pierpont syndrome 1
                  Pseudo-TORCH Syndrome + 3
                  Rajab Interstitial Lung Disease with Brain Calcifications + 2
                  Refsum Disease with Increased Pipecolic Acidemia 0
                  Roifman-Chitayat Syndrome 2
                  SHORT STATURE-MICROGNATHIA SYNDROME 2
                  Short Stature, Developmental Delay, and Congenital Heart Defects 1
                  Siddiqi syndrome 1
                  Snijders Blok-Fisher Syndrome 0
                  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 1
                  Zaki syndrome 1
                  brachycephaly, trichomegaly, and developmental delay 1
                  cerebellar hypoplasia + 99
                  cerebellofaciodental syndrome 1
                  chromosome 13q14 deletion syndrome 71
                  chromosome 17p13.3 duplication syndrome 5
                  chromosome 3q29 microdeletion syndrome 21
                  chromosome Xp11.23-p11.22 duplication syndrome 0
                  congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
                  congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
                  developmental delay, hypotonia, and impaired language 1
                  developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 0
                  diphthamide deficiency syndrome + 5
                  early-onset epilepsy 2 1
                  hypermethioninemia due to adenosine kinase deficiency 1
                  hypotonia, ataxia, and delayed development syndrome 1
                  microcephaly, seizures, and developmental delay 2
                  osteosclerotic metaphyseal dysplasia 1
                  pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
                  sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
                  spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
                  succinic semialdehyde dehydrogenase deficiency 4
paths to the root