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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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Developmental Disabilities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aar2 AAR2 splicing factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:152,626,738...152,648,365
Ensembl chr 3:152,626,757...152,649,609
JBrowse link
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868, PMID:28649782 NCBI chr 2:119,112,776...119,128,870
Ensembl chr 2:119,112,513...119,129,751
JBrowse link
G Actl6b actin-like 6B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:26539891, PMID:30311386, PMID:31031012 NCBI chr12:22,194,595...22,211,107
Ensembl chr12:22,194,618...22,211,080
JBrowse link
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:28492532 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Adap2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:67,494,851...67,527,582
Ensembl chr10:67,494,984...67,526,426
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15955093, PMID:16817193, PMID:19017046, PMID:23001123, PMID:24262145, PMID:25243380, PMID:25326637, PMID:25741868, PMID:26372505, PMID:27937139, PMID:28561207, PMID:30311386 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
JBrowse link
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10888601, PMID:28492532, PMID:30311386 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Agtpbp1 ATP/GTP binding protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:5,510,009...5,614,416
Ensembl chr17:5,511,385...5,614,435
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23806086, PMID:24088041, PMID:24791903, PMID:25741868 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15322546, PMID:23532844, PMID:25558065, PMID:25741868, PMID:28492532 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10208883, PMID:15627943, PMID:21159799, PMID:21800092, PMID:22228622, PMID:22729224, PMID:23745724, PMID:24705253, PMID:25523067, PMID:25741868, PMID:28190287, PMID:28492532 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
JBrowse link
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:26467025, PMID:30311386 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19559397, PMID:20972249, PMID:21440262, PMID:21620353, PMID:22290197, PMID:23167973, PMID:23472171, PMID:24395635, PMID:24700674, PMID:24781758, PMID:25552650, PMID:25693842, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:206,293,679...206,305,705
Ensembl chr 2:206,293,720...206,305,702
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 NCBI chr12:19,314,222...19,320,339
Ensembl chr12:19,314,251...19,320,142
JBrowse link
G Arfgap1 ADP-ribosylation factor GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20805988 NCBI chr 3:176,475,847...176,490,642
Ensembl chr 3:176,475,893...176,489,925
JBrowse link
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:8,666,046...8,760,458
Ensembl chr 5:8,666,200...8,760,458
JBrowse link
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 3:163,570,435...163,656,612
Ensembl chr 3:163,570,532...163,656,626
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741885, PMID:30311386 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655
JBrowse link
G Arl14ep ADP-ribosylation factor like GTPase 14 effector protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:25741868 NCBI chr 3:97,981,506...97,993,684
Ensembl chr 3:97,983,686...97,993,684
JBrowse link
G As3mt arsenite methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28235556 NCBI chr 1:266,482,787...266,514,570
Ensembl chr 1:266,482,858...266,514,569
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 2:188,252,592...188,389,251
Ensembl chr 2:188,253,220...188,389,250
JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr16:71,011,315...71,033,171
Ensembl chr16:71,011,332...71,032,790
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:2358466, PMID:7557970, PMID:8792870, PMID:10987146, PMID:11211875, PMID:11708871, PMID:11941481, PMID:12815590, PMID:14680976, PMID:16475226, PMID:18473344, PMID:19006241, PMID:19358837, PMID:23430935, PMID:25433810, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 6:27,835,346...27,919,285
Ensembl chr 6:27,887,797...27,915,563
JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
JBrowse link
G Atad5 ATPase family, AAA domain containing 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:67,427,042...67,475,825
Ensembl chr10:67,427,066...67,473,649
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30071271, PMID:30311386, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:26539891, PMID:30311386 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 7:126,228,416...126,351,728
Ensembl chr 7:126,228,295...126,351,634
JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr10:97,212,483...97,238,824
Ensembl chr10:97,212,432...97,239,642
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741869 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:106,823,442...106,825,016
Ensembl chr  X:106,823,491...106,825,014
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:8521501, PMID:9225734, PMID:11583616, PMID:14609955, PMID:16264191, PMID:16728978, PMID:16774993, PMID:18334252, PMID:18794365, PMID:18848651, PMID:18974875, PMID:19713963, PMID:22166941, PMID:22366787, PMID:22426308, PMID:24700502, PMID:25741868, PMID:26014595, PMID:27513193, PMID:28942966, PMID:30311386 NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16325861, PMID:16787562, PMID:18354422, PMID:20301674, PMID:24486772, PMID:25326635, PMID:25481746, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28742085, PMID:30011838, PMID:30311386 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741872 NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11994750, PMID:25741868, PMID:29100083, PMID:29100089, PMID:32581362 NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25361775, PMID:25787132, PMID:30311386 NCBI chr16:83,288,613...83,325,706
Ensembl chr16:83,288,664...83,325,699
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:7762555, PMID:8353501, PMID:9587029, PMID:10408774, PMID:12686134, PMID:14722927, PMID:16307898, PMID:20490928, PMID:20506325, PMID:22069143, PMID:22267502, PMID:22612060, PMID:25326637, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:187,669,051...187,693,610
Ensembl chr 2:187,668,796...187,693,610
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741891 NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:1,935,900...1,942,867
Ensembl chr17:1,936,163...1,942,865
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:117,822,799...117,894,856 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:17345604, PMID:21866095, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cep97 centrosomal protein 97 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr11:47,146,409...47,174,460
Ensembl chr11:47,146,308...47,174,713
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr16:80,839,373...80,850,340
Ensembl chr16:80,839,374...80,850,340
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:30311386, PMID:30559488 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:80,833,272...80,841,165
Ensembl chr 3:80,833,272...80,841,006
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20805988 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26752647, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
JBrowse link
G Clip1 CAP-GLY domain containing linker protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr12:38,345,203...38,452,650
Ensembl chr12:38,345,456...38,452,652
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:39,711,001...39,953,860
Ensembl chr  X:39,711,201...39,951,847
JBrowse link
G Cntn4 contactin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chr 4:137,785,166...138,787,527
Ensembl chr 4:138,269,142...138,787,525
JBrowse link
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24033287, PMID:24633401, PMID:24854265, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298
JBrowse link
G Coprs coordinator of PRMT5 and differentiation stimulator ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr16:80,826,681...80,831,791
Ensembl chr16:80,826,681...80,831,791
JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21922598, PMID:23105115, PMID:25741868, PMID:26467025, PMID:26648591, PMID:28492532, PMID:28761347, PMID:29358611, PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25407461, PMID:25558065, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:80,892,433...80,933,283
Ensembl chr 3:80,892,435...80,933,283
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Crlf3 cytokine receptor-like factor 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:67,383,664...67,401,836
Ensembl chr10:67,383,900...67,401,836
JBrowse link
G Crybg1 crystallin beta-gamma domain containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr20:48,927,942...49,123,724
Ensembl chr20:48,927,914...48,969,499
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:8,761,293...8,876,205
Ensembl chr 5:8,761,293...8,864,578
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:8135271, PMID:17236139, PMID:17273978, PMID:25741868 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329
JBrowse link
G Cyfip2 cytoplasmic FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741870, PMID:30664714 NCBI chr10:31,278,746...31,419,235
Ensembl chr10:31,278,746...31,419,235
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9097971, PMID:16735994, PMID:23218701, PMID:28448622, PMID:28492532, PMID:30311386, PMID:32832252 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176821, PMID:25558065 NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741895, PMID:30311386 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Ddx58 DEXD/H-box helicase 58 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:80,844,002...80,886,487
Ensembl chr 3:80,844,005...80,875,817
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15776424, PMID:15952211, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28250423, PMID:28492532, PMID:28972118, PMID:29300326, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677
JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28327206, PMID:29100085, PMID:32581362 NCBI chr 8:118,160,315...118,194,674
Ensembl chr 8:118,160,299...118,187,791
JBrowse link
G Dhx58 DEXH-box helicase 58 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:88,599,722...88,611,562
Ensembl chr10:88,599,680...88,611,105
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24781755, PMID:25558065, PMID:30311386 NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dmbx1 diencephalon/mesencephalon homeobox 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 5:134,767,436...134,792,840
Ensembl chr 5:134,767,436...134,776,247
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Dock3 dedicator of cyto-kinesis 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30976111 NCBI chr 8:115,627,282...115,982,260
Ensembl chr 8:115,629,583...115,981,910
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18060736 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042
JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:32576952 NCBI chr 5:136,723,398...136,726,358
Ensembl chr 5:136,723,406...136,726,358
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21592505 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741904 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:8,599,251...8,615,329
Ensembl chr 3:8,599,148...8,615,532
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, PMID:25920557, PMID:25944381, PMID:26922654, PMID:27241786, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:22492562, PMID:23008233, PMID:25058219, PMID:25741868, PMID:25854774, PMID:26619324, PMID:26741492, PMID:26780086 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19627984, PMID:20300201, PMID:25741868, PMID:28017370, PMID:28017372, PMID:28017373, PMID:28487885, PMID:29062322, PMID:29162653, PMID:30311386, PMID:32581362 NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:154,189,252...154,216,340
Ensembl chr 1:154,189,260...154,216,340
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741880, PMID:30311386 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:157,820,908...157,846,226
Ensembl chr 5:157,820,908...157,846,226
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epb41l1 erythrocyte membrane protein band 4.1-like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:152,492,725...152,622,047
Ensembl chr 3:152,552,822...152,619,722
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9443879, PMID:10767341, PMID:18414213, PMID:19894250, PMID:22661500, PMID:22904069, PMID:25136123, PMID:25741868, PMID:25820262, PMID:28492532, PMID:30311386 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:60,307,148...60,327,237
Ensembl chr16:60,307,148...60,327,236
JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:66,870,048...66,873,948
Ensembl chr10:66,870,067...66,873,948
JBrowse link
G Evi2b ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:66,856,980...66,858,598
Ensembl chr10:66,856,980...66,858,598
JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr14:107,785,029...107,803,765
Ensembl chr14:107,785,029...107,798,115
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19578037, PMID:25741868, PMID:28492532, PMID:28661489, PMID:32581362 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25363768, PMID:25741868, PMID:27824329, PMID:28492532, PMID:30311386 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr 9:15,068,378...15,124,962
Ensembl chr 9:15,068,399...15,125,318
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18514161, PMID:25741868, PMID:30311386 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9326324, PMID:30311386 NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12944715, PMID:30311386 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24035193 NCBI chr 9:82,632,267...82,639,811
Ensembl chr 9:82,632,230...82,639,821
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay
ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741873, PMID:27523599, PMID:27677260 NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr19:57,614,813...57,640,524
Ensembl chr19:57,614,628...57,640,726
JBrowse link
G Golph3 golgi phosphoprotein 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:62,360,754...62,388,773
Ensembl chr 2:62,360,754...62,388,771
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21937992, PMID:23453665, PMID:23453666, PMID:23633300, PMID:24798461, PMID:25326635, PMID:25558065, PMID:25741868, PMID:28097321, PMID:28454995, PMID:28492532, PMID:28600779, PMID:29383837 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741907 NCBI chr  X:127,561,843...127,829,763
Ensembl chr  X:127,562,660...127,829,753
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:27159321, PMID:28492532, PMID:30311386 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741871 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741889 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:27435318, PMID:32286009 NCBI chr 4:142,452,616...143,368,460
Ensembl chr 4:142,780,987...143,367,578
JBrowse link
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25434004, PMID:30311386 NCBI chr16:19,897,135...19,902,226
Ensembl chr16:19,896,986...19,902,245
JBrowse link
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26437029, PMID:32581362 NCBI chr20:50,652,489...50,783,937
Ensembl chr20:50,652,745...50,783,937
JBrowse link
G Harbi1 harbinger transposase derived 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:80,614,886...80,624,213
Ensembl chr 3:80,614,937...80,624,205
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:15146185, PMID:15146186, PMID:17640042, PMID:19886810, PMID:22885700, PMID:22889856, PMID:24038889, PMID:24403048, PMID:24718998, PMID:25209348, PMID:25741868, PMID:26671848 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
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:30311386 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1318511, PMID:1831451, PMID:1832817, PMID:2521932, PMID:2961848, PMID:2973311, PMID:7551830, PMID:8730294, PMID:16088929, PMID:17015493, PMID:18490185, PMID:20100466, PMID:22441121, PMID:22789865, PMID:25741868, PMID:25741876, PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9463337, PMID:15308132, PMID:17173698, PMID:19177531, PMID:30311386 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr17:6,664,730...6,676,753
Ensembl chr17:6,665,659...6,676,654
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:2928313, PMID:23975452, PMID:28492532, PMID:30311386 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr19:37,225,800...37,232,048
Ensembl chr19:37,226,186...37,231,912
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741905 NCBI chr  X:21,474,627...21,603,348
Ensembl chr  X:21,499,934...21,598,876
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
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:29122497, PMID:29297947, PMID:29470032 NCBI chr 6:108,488,678...108,490,188
Ensembl chr 6:108,488,678...108,490,188
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22544367, PMID:25741868, PMID:25741877, PMID:30311386 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:26539891 NCBI chr 3:138,508,899...138,549,437
Ensembl chr 3:138,504,214...138,549,437
JBrowse link
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:222,182,997...222,192,139
Ensembl chr 1:222,183,276...222,189,604
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10200319, PMID:11181977, PMID:15184377, PMID:15190101, PMID:15194823, PMID:15234350, PMID:15937479, PMID:17329434, PMID:18604572, PMID:19075508, PMID:19515965, PMID:20553876, PMID:21923633, PMID:21942705, PMID:22072564, PMID:22495311, PMID:23430260, PMID:24434522, PMID:25741868, PMID:25917818, PMID:26166566, PMID:27048600 NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:12754513, PMID:20805988, PMID:22275249, PMID:24318194, PMID:25741868, PMID:25880994, PMID:27602407, PMID:28492532, PMID:32581362 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23020937, PMID:23934111, PMID:25740509, PMID:25741868, PMID:26350515, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29655203, PMID:30311386, PMID:30578330 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10787416, PMID:10816588, PMID:12904483, PMID:15608631, PMID:18483067, PMID:20534576, PMID:21666672, PMID:21795522, PMID:22275249, PMID:23146207, PMID:25649132, PMID:25741879, PMID:26687932, PMID:28669405 NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:23086397, PMID:30311386 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
G Kdm2b lysine demethylase 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr12:39,021,924...39,161,954
Ensembl chr12:39,078,119...39,161,956
JBrowse link
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 6:44,225,142...44,322,938
Ensembl chr 6:44,225,233...44,322,938
JBrowse link
G Kif1a kinesin family member 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:28492532, PMID:30311386, PMID:30559488 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Kif5b kinesin family member 5B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:54,181,416...54,219,048
Ensembl chr17:54,181,419...54,212,096
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 8:35,692,525...36,254,755
Ensembl chr 8:36,125,999...36,254,753
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741878, PMID:30311386 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:29926297 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24728327, PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16474404, PMID:16474405, PMID:16773572, PMID:24033266, PMID:28492532, PMID:30311386 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25644381 NCBI chr  X:65,081,591...65,102,344
Ensembl chr  X:65,081,591...65,102,380
JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr13:100,431,390...100,450,209 JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:26539891 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741906 NCBI chr 2:206,928,708...206,997,915
Ensembl chr 2:206,931,204...206,997,519
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:17632512, PMID:28492532 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
JBrowse link
G Lxn latexin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:164,628,565...164,634,434
Ensembl chr 2:164,628,566...164,634,434
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28492532 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12239713, PMID:12529707, PMID:16439621, PMID:16474404, PMID:17366577, PMID:17551924, PMID:17567882, PMID:17704260, PMID:17981815, PMID:18042262, PMID:18413255, PMID:18632602, PMID:18854871, PMID:19156172, PMID:19376813, PMID:20958325, PMID:21654472, PMID:22589294, PMID:22753777, PMID:22848035, PMID:23093928, PMID:24033266, PMID:24101678, PMID:24236184, PMID:24637312, PMID:25326635, PMID:25423878, PMID:25741868, PMID:26350204, PMID:26795593, PMID:27862862, PMID:28492532, PMID:30311386 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr11:89,511,191...89,524,892
Ensembl chr11:89,511,191...89,524,892
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
JBrowse link
G Mcub mitochondrial calcium uniporter dominant negative subunit beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:230,198,346...230,274,033
NCBI chr 2:235,353,506...235,356,936
Ensembl chr 2:230,199,343...230,273,709
JBrowse link
G Mdk midkine ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:80,841,003...80,843,895
Ensembl chr 3:80,841,005...80,842,916
JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:8703017, PMID:18414213, PMID:20017541, PMID:23033978, PMID:24896178, PMID:25533962, PMID:25741868, PMID:25741882, PMID:25972378, PMID:26168268, PMID:26576547, PMID:30676711 NCBI chr 9:16,610,312...16,614,153
Ensembl chr 9:16,610,315...16,612,136
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10814719, PMID:10852707, PMID:10854091, PMID:10944854, PMID:10991688, PMID:10991689, PMID:11007980, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11106359, PMID:11214906, PMID:11227330, PMID:11238684, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11283201, PMID:11309679, PMID:11313756, PMID:11313764, PMID:11331619, PMID:11376998, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11524741, PMID:11738860, PMID:11738864, PMID:11738866, PMID:11738879, PMID:11738883, PMID:11738885, PMID:11746022, PMID:11896459, PMID:11913567, PMID:11960578, PMID:12075485, PMID:12081725, PMID:12111643, PMID:12180070, PMID:12325033, PMID:12567420, PMID:12615169, PMID:12673788, PMID:12707946, PMID:12746405, PMID:12746406, PMID:12843318, PMID:12872250, PMID:12872251, PMID:12966523, PMID:14536082, PMID:14560307, PMID:15057977, PMID:15070486, PMID:15173251, PMID:15228575, PMID:15287421, PMID:15389714, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16077729, PMID:16122633, PMID:16169931, PMID:16183801, PMID:16473305, PMID:16629931, PMID:16672765, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17505203, PMID:17914728, PMID:17986102, PMID:18174548, PMID:18332345, PMID:18334558, PMID:18337588, PMID:18414213, PMID:18562141, PMID:18652533, PMID:19559301, PMID:19652677, PMID:19722030, PMID:20031356, PMID:20301670, PMID:20625242, PMID:20631224, PMID:21154482, PMID:21160487, PMID:21695138, PMID:21764336, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:22525432, PMID:23238081, PMID:23260135, PMID:23262346, PMID:23270700, PMID:23421866, PMID:23452848, PMID:23810759, PMID:24033266, PMID:24283265, PMID:24399845, PMID:24458799, PMID:24511209, PMID:24626160, PMID:25167861, PMID:25541993, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27255190, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:73,702,327...73,787,084
Ensembl chr10:73,702,327...73,787,083
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741884, PMID:30311386 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:21290976, PMID:22037353, PMID:23334425, PMID:23907647, PMID:24318677, PMID:25741868, PMID:27030597, PMID:28492532, PMID:30171907, PMID:30311386 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20684000, PMID:22105986, PMID:25558065 NCBI chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
JBrowse link
G Mir193a microRNA 193a ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:67,065,885...67,065,996
Ensembl chr10:67,065,885...67,065,996
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, PMID:17210669, PMID:17510385, PMID:21404117, PMID:22843852, PMID:25741868, PMID:26467025, PMID:26552419, PMID:28492532, PMID:28514183, PMID:28767289, PMID:30504929 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741893, PMID:26497905, PMID:27105897, PMID:28492532 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:107,394,468...107,405,564
Ensembl chr  X:107,394,486...107,405,564
JBrowse link
G Mpp4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 9:65,917,917...65,961,274
Ensembl chr 9:65,917,917...65,957,101
JBrowse link
G Msl3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:27,015,826...27,033,562
Ensembl chr  X:27,015,884...27,033,555
JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28027978 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28027978 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G 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, PMID:25741892, PMID:28492532, PMID:29331171, PMID:29440775, PMID:30311386 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937
JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr19:40,904,779...40,925,660
Ensembl chr19:40,905,847...40,925,660
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9562578, PMID:10736283, PMID:11499718, PMID:11499719, PMID:11847170, PMID:14563344, PMID:15519027, PMID:16679492, PMID:19273718, PMID:19356534, PMID:19574547, PMID:20505798, PMID:22057632, PMID:22115648, PMID:22569109, PMID:22574137, PMID:24033266, PMID:25335496, PMID:25741868, PMID:27108529, PMID:27532257, PMID:28492532, PMID:30311386 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24033266, PMID:25741868, PMID:26445815, PMID:27375115, PMID:28492532 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
JBrowse link
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:140,471,437...140,534,259
Ensembl chr 2:140,471,690...140,534,259
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
JBrowse link
G Nans N-acetylneuraminate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27213289 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9590180, PMID:9620777, PMID:10398434, PMID:10852373, PMID:11093281, PMID:11279524, PMID:11953735, PMID:12123493, PMID:12505263, PMID:12833396, PMID:14973119, PMID:15185344, PMID:16033915, PMID:16544999, PMID:17103455, PMID:18606567, PMID:18940477, PMID:19635536, PMID:19908051, PMID:20444919, PMID:22131123, PMID:22293976, PMID:22941933, PMID:23317186, PMID:23765759, PMID:24033266, PMID:24113799, PMID:25186627, PMID:25485873, PMID:25741868, PMID:25980754, PMID:26083025, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:27150568, PMID:27616075, PMID:28492532, PMID:30311386 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Nckap1 NCK-associated protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741875 NCBI chr 3:67,725,180...67,804,680
Ensembl chr 3:67,725,947...67,787,990
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Ndc1 NDC1 transmembrane nucleoporin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:126,976,636...127,022,941
Ensembl chr 5:126,976,456...127,022,939
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:21520333, PMID:22241097, PMID:24728327, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Ngly1 N-glycanase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22842227, PMID:22842229, PMID:22842230, PMID:22842231, PMID:23040504, PMID:24033266, PMID:24625443, PMID:24830548, PMID:24940029, PMID:25741868, PMID:26018082, PMID:26103963, PMID:27032803, PMID:28041643, PMID:28492532, PMID:32581362 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
JBrowse link
G Nol11 nucleolar protein 11 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28942966 NCBI chr10:95,388,223...95,408,053
Ensembl chr10:95,388,888...95,407,997
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10521290, PMID:11349231, PMID:16126423, PMID:19744920, PMID:21245028, PMID:23146215, PMID:26981555, PMID:30311386 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:28492532 NCBI chr 6:108,467,410...108,488,330
Ensembl chr 6:108,467,410...108,488,330
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 7:99,677,295...99,900,765
Ensembl chr 7:99,677,290...99,900,764
JBrowse link
G Nsun2 NOP2/Sun RNA methyltransferase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:36,295,650...36,319,906
Ensembl chr 1:36,295,650...36,319,966
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31372774, PMID:31692205 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15494731 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:25741868, PMID:28117080, PMID:28280135, PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:57,206,665...57,258,242
Ensembl chr 2:57,206,613...57,258,295
JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr 3:9,227,869...9,236,878
NCBI chr 3:10,993,584...11,070,638
Ensembl chr 3:9,227,823...9,236,736
Ensembl chr 3:9,227,823...9,236,736
JBrowse link
G Ocln occludin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
JBrowse link
G Omg oligodendrocyte-myelin glycoprotein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:66,845,654...66,848,388
Ensembl chr10:66,845,654...66,848,388
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9695949, PMID:23159249, PMID:25326635, PMID:25356970, PMID:25522177, PMID:25741868, PMID:25741881, PMID:26795593, PMID:26842493, PMID:26944241, PMID:27681385, PMID:28111752, PMID:28471432, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28975623, PMID:29550517, PMID:30113927, PMID:30311386, PMID:30690871, PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 6:137,824,136...137,889,144
Ensembl chr 6:137,824,213...137,887,418
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1301187, PMID:9298832, PMID:11486900, PMID:12655552, PMID:15171997, PMID:15557004, PMID:16198137, PMID:17935162, PMID:18299955, PMID:18538294, PMID:18956252, PMID:21147011, PMID:22330942, PMID:23500595, PMID:23559577, PMID:23764561, PMID:23792259, PMID:24033266, PMID:24350308, PMID:25155776, PMID:25596310, PMID:25741868, PMID:26467025, PMID:26666653, PMID:26803807, PMID:27682710, PMID:28492532, PMID:30311386 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr 7:117,291,592...117,300,878
Ensembl chr 7:117,291,877...117,300,662
JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741903 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:5116697, PMID:18469813, PMID:22267240, PMID:22946748, PMID:23334464, PMID:25741868, PMID:27143072, PMID:27527380, PMID:28492532 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15525528, PMID:25741868, PMID:25741869, PMID:25741894, PMID:30343942 NCBI chr10:85,631,829...85,642,591
Ensembl chr10:85,632,819...85,636,902
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
G Pde10a phosphodiesterase 10A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27058446, PMID:32581362 NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:8199595, PMID:12379317, PMID:18023225, PMID:20002125, PMID:24718837, PMID:28492532, PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:62,836,131...62,904,114
Ensembl chr  X:62,836,131...62,903,554
JBrowse link
G Pdzd2 PDZ domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:62,399,748...62,520,448
Ensembl chr 2:62,399,748...62,634,785
JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:90,820,670...91,285,128 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19142205, PMID:19877282, PMID:22871920, PMID:24016303, PMID:25741868, PMID:27302843, PMID:28492532, PMID:30311386 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30345601 NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
JBrowse link
G Phactr1 phosphatase and actin regulator 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr17:23,245,423...23,761,207 JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741900 NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855
JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27916860, PMID:32581362 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr16:20,415,109...20,424,982
Ensembl chr16:20,416,432...20,424,980
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12357336, PMID:15844218, PMID:25497157, PMID:28807751, PMID:30311386 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Global developmental delay
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20118933, PMID:25558065, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29261713, PMID:29720203, PMID:30311386 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:12210792, PMID:12297582, PMID:12707443, PMID:12825077, PMID:12975295, PMID:14635118, PMID:15349879, PMID:15689359, PMID:16401742, PMID:16621917, PMID:18487244, PMID:18546365, PMID:18828154, PMID:19189930, PMID:19578034, PMID:20385918, PMID:20513108, PMID:21138766, PMID:21880868, PMID:22616202, PMID:23324391, PMID:23448099, PMID:23665194, PMID:23783014, PMID:23804100, PMID:24508722, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25940035, PMID:26104464, PMID:26337858, PMID:26467025, PMID:26468652, PMID:27538604, PMID:28130605, PMID:28154168, PMID:28492532, PMID:28812649, PMID:29474836 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741874 NCBI chr  X:15,035,569...15,048,440
Ensembl chr  X:15,035,569...15,048,440
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:72,909,550...72,945,884
Ensembl chr10:72,909,550...72,945,884
JBrowse link
G Ppm1e protein phosphatase, Mg2+/Mn2+ dependent, 1E ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:74,548,270...74,679,858
Ensembl chr10:74,548,270...74,679,858
JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:8703017, PMID:18414213, PMID:20017541, PMID:23033978, PMID:24896178, PMID:25533962, PMID:25741868, PMID:25741882, PMID:25972378, PMID:26168268, PMID:26576547, PMID:30676711 NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 6:71,035,017...71,349,531
Ensembl chr 6:71,035,332...71,349,249
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr19:38,189,605...38,237,155
Ensembl chr19:38,189,605...38,237,308
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 6:76,079,880...76,171,298
Ensembl chr 6:76,079,880...76,171,296
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 7:71,294,140...71,356,153
Ensembl chr 7:71,293,388...71,356,153
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:18759867, PMID:19265751, PMID:19321504, PMID:24375884, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12960218, PMID:14644997, PMID:15987685, PMID:16358218, PMID:16523510, PMID:17020470, PMID:17056636, PMID:17222357, PMID:17339163, PMID:17361219, PMID:18372317, PMID:19020799, PMID:19206169, PMID:19467855, PMID:19737548, PMID:20308328, PMID:21396583, PMID:21500339, PMID:21533187, PMID:22315187, PMID:23584145, PMID:24033266, PMID:24628801, PMID:25741868, PMID:26249544, PMID:26297936, PMID:27521173, PMID:27619028, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:30311386, PMID:31395947 NCBI chr 8:118,628,777...118,651,238
Ensembl chr 8:118,628,777...118,651,238
JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 7:117,129,237...117,140,234
Ensembl chr 7:117,129,237...117,140,214
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Developmental delay, global
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25439098, PMID:25741868, PMID:28448108, PMID:28492532, PMID:32860008 NCBI chr18:29,104,712...29,114,918
Ensembl chr18:29,110,242...29,111,156
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G Pygl glycogen phosphorylase L ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr20:48,855,839...48,881,112
Ensembl chr20:48,855,914...48,881,119
JBrowse link
G Rab11fip4 RAB11 family interacting protein 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:66,942,363...67,051,672
Ensembl chr10:66,942,398...67,048,308
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741888, PMID:28886345 NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20400964, PMID:21990120, PMID:24800917, PMID:25741868, PMID:26261251, PMID:28492532, PMID:30311386 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16931511, PMID:25741902 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28905880, PMID:30311386 NCBI chr10:20,633,630...20,658,074
Ensembl chr10:20,633,632...20,658,100
JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr18:3,134,630...3,227,702
Ensembl chr18:3,162,543...3,227,688
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:147,793,014...147,809,941
Ensembl chr 3:147,793,017...147,809,919
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:26046367, PMID:28492532, PMID:30311386, PMID:31134136 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:167,330,966...167,664,506
Ensembl chr 5:167,331,035...167,664,505
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:25741900 NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:159,483,089...159,518,387
Ensembl chr 4:159,483,131...159,515,447
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:67,531,989...67,551,237 JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
JBrowse link
G Rps6kc1 ribosomal protein S6 kinase C1 ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr13:109,338,761...109,589,209
Ensembl chr13:109,338,762...109,483,891
JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr20:48,881,124...48,924,921
Ensembl chr20:48,881,194...48,925,081
JBrowse link
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr11:71,150,506...71,199,254
Ensembl chr11:71,151,132...71,197,035
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:17347258, PMID:18804930, PMID:23895530, PMID:25348405, PMID:25401298, PMID:25741868, PMID:28012175, PMID:28492532, PMID:31791873, PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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, PMID:30311386, PMID:32581362 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19763161, PMID:22604722, PMID:23129781, PMID:25250524, PMID:25741868, PMID:26467025, PMID:27504264, PMID:28492532, PMID:29176367, PMID:30311386, PMID:30642272 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19561605, PMID:19621418, PMID:25044164, PMID:28492532, PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr19:58,420,635...58,422,153
Ensembl chr19:58,419,961...58,421,504
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
JBrowse link
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr12:38,843,167...38,869,180
Ensembl chr12:38,845,621...38,869,346
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245
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:10601282, PMID:11182930, PMID:15146460, PMID:15542396, PMID:18407553, PMID:19099774, PMID:21061399, PMID:21671382, PMID:22976768, PMID:24314109, PMID:25741868, PMID:26787381, PMID:27590925, PMID:28492532, PMID:28844463, PMID:29023963, PMID:30311386, PMID:30809705, PMID:31536183, PMID:32581362 NCBI chr10:108,469,312...108,479,094 JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:16284256, PMID:25741868, PMID:30311386, PMID:32581362 NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:16,723,360...16,929,829
Ensembl chr  X:16,719,803...16,929,907
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:57,860,881...57,935,363
Ensembl chr 2:57,860,834...57,935,363
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9462754, PMID:10980529, PMID:11603379 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:22243965, PMID:32581362 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24824130 NCBI chr20:33,772,314...34,420,970
Ensembl chr20:34,258,791...34,420,824
JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:29053833, PMID:30311386 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:32581362 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11326334 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:32581362, PMID:32860008 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741897 NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27018474 NCBI chr 1:81,259,450...81,282,893
Ensembl chr 1:81,260,548...81,282,887
JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:1944255, PMID:3054499, PMID:9185665, PMID:10509013, PMID:10950926, PMID:11306577, PMID:12606581, PMID:16033648, PMID:19961433, PMID:20053686, PMID:20581448, PMID:20976243, PMID:21504830, PMID:22193954, PMID:22948023, PMID:23001566, PMID:23033978, PMID:23416452, PMID:23424103, PMID:23595291, PMID:23603762, PMID:24013217, PMID:24896178, PMID:25533962, PMID:25590979, PMID:25782155, PMID:27256762, PMID:27545676, PMID:27545680 NCBI chr11:31,806,598...31,837,769
Ensembl chr11:31,806,618...31,837,763
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:17586837, PMID:20673819, PMID:25741868, PMID:30311386 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr17:37,615,022...37,619,728 JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:70,994,531...71,022,302
Ensembl chr 8:70,994,563...71,022,331
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 4:116,912,343...116,916,073
Ensembl chr 4:116,912,351...116,916,236
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:84,168,494...84,254,679
Ensembl chr 1:84,168,495...84,254,645
JBrowse link
G ST7 suppression of tumorigenicity 7 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr 4:45,000,223...45,247,793
Ensembl chr 4:45,000,973...45,247,790
JBrowse link
G Stag1 stromal antigen 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741896 NCBI chr 8:108,958,099...109,342,738
Ensembl chr 8:108,958,046...109,342,738
JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22612257, PMID:25741868, PMID:25758715, PMID:25818041, PMID:26865513 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:28492532 NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
JBrowse link
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 7:3,098,228...3,102,179
Ensembl chr 7:3,098,245...3,102,142
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:1,321,315...1,379,202
Ensembl chr  X:1,321,315...1,379,198
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:94,260,148...94,268,276
Ensembl chr10:94,260,197...94,268,222
JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
G Tasp1 taspase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31209944 NCBI chr 3:132,888,785...133,131,213
Ensembl chr 3:132,888,772...133,131,192
JBrowse link
G Tbc1d23 TBC1 domain family, member 23 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr11:45,401,396...45,459,841
Ensembl chr11:45,401,403...45,459,821
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:27040691 NCBI chr 2:237,751,646...237,958,497
Ensembl chr 2:237,751,654...237,958,497
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:107,370,351...107,372,347
Ensembl chr  X:107,370,431...107,372,338
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:107,322,077...107,324,054
Ensembl chr 2:102,370,158...102,370,757
Ensembl chr  X:102,370,158...102,370,757
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:22045651, PMID:25167861, PMID:25741868, PMID:25741890, PMID:26993267, PMID:28492532, PMID:28807867, PMID:30311386 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:26092869 NCBI chr12:39,790,948...39,828,215
Ensembl chr12:39,790,965...39,824,064
JBrowse link
G Tefm transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 NCBI chr10:67,476,006...67,478,830
Ensembl chr10:67,475,968...67,479,077
JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:2019643, PMID:8817341, PMID:9703425, PMID:9732974, PMID:10407773, PMID:12891655, PMID:19282209, PMID:20198643, PMID:20430833, PMID:20492352, PMID:20823027, PMID:21937992, PMID:23480488, PMID:24753243, PMID:25224241, PMID:25741868, PMID:26276013, PMID:28492532, PMID:30311386 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18327255, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065 NCBI chr10:82,545,238...82,575,822 JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22958901, PMID:24033266, PMID:24093860, PMID:25741868, PMID:26507537, PMID:28255936, PMID:28492532, PMID:30311386 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 7:121,930,610...122,147,934
Ensembl chr 7:121,930,615...122,147,934
JBrowse link
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:32581362 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
JBrowse link
G Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22152682, PMID:30311386 NCBI chr 4:72,792,252...73,174,179
Ensembl chr 4:72,792,252...73,174,179
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9295267, PMID:9788728, PMID:10330339, PMID:11339651, PMID:12376936, PMID:15520412, PMID:18684116, PMID:23418007, PMID:23539563, PMID:25741868, PMID:26224725, PMID:28335910, PMID:28492532, PMID:30311386 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
G Trim37 tripartite motif-containing 37 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:74,436,165...74,568,636
Ensembl chr10:74,436,208...74,568,493
JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 9:92,305,059...92,435,388
Ensembl chr 9:92,305,051...92,435,365
JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:31278393 NCBI chr 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741898 NCBI chr12:11,537,950...11,627,563
Ensembl chr12:11,537,950...11,627,563
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15798777, PMID:16981987, PMID:26467025, PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Tsen15 tRNA splicing endonuclease subunit 15 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25558065, PMID:27392077 NCBI chr13:69,765,093...69,781,019
Ensembl chr13:69,765,091...69,781,019
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Tuba1a tubulin, alpha 1A ISO DNA:missense mutation:exon:
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:18414213, PMID:25741868, PMID:30087272, PMID:30311386, PMID:30744660, PMID:32581362, PMID:22101068 RGD:12859087 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24785942, PMID:32581362 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:2903492, PMID:25741868, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:1,723,135...1,745,147
Ensembl chr  X:1,723,174...1,741,701
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Developmental delay ClinVar NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 9:73,492,907...73,686,578
Ensembl chr 9:73,493,027...73,683,000
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:15,987,964...15,991,149
Ensembl chr  X:15,988,604...15,990,484
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:15173253, PMID:25741868, PMID:32581362 NCBI chr 7:74,118,834...74,722,341 JBrowse link
G Wdfy4 WDFY family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr16:9,194,446...9,430,764
Ensembl chr16:9,194,424...9,430,743
JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr13:99,493,117...99,532,775
Ensembl chr13:99,493,120...99,531,959
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:31327508, PMID:31327510 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:20562859, PMID:23176820, PMID:23435086, PMID:23687123, PMID:24621584, PMID:24847269, PMID:25263061, PMID:25356899, PMID:25592411, PMID:25741868, PMID:25741886, PMID:25741887, PMID:26173968, PMID:28492532, PMID:28932395, PMID:29171013, PMID:29981852, PMID:30311386 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
JBrowse link
G Wdr70 WD repeat domain 70 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 2:56,944,462...57,196,522
Ensembl chr 2:56,944,460...57,196,568
JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9856492, PMID:17603484, PMID:18040659, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24456803, PMID:25411445, PMID:25558065, PMID:25741868, PMID:27717089, PMID:28492532, PMID:29852413 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:1024343, PMID:30311386 NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
G Zfp536 zinc finger protein 536 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr 1:93,689,114...94,155,457
Ensembl chr 1:93,851,454...93,949,187
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30311386 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
G Zmynd11 zinc finger, MYND-type containing 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16565076, PMID:22847950, PMID:23372760, PMID:24267886, PMID:24590075, PMID:24963723, PMID:25217958, PMID:25281490, PMID:25741899 NCBI chr17:63,825,616...63,914,740
Ensembl chr17:63,825,627...63,879,171
JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Malpuech facial clefting syndrome ClinVar
OMIM
PMID:28301481 NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
AGAT deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,251,794...114,286,827
Ensembl chr 3:114,253,637...114,286,802
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,241,057...114,251,720
Ensembl chr 3:114,241,057...114,251,647
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar Annotator: match by OMIM:612718
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10762163, PMID:11555793, PMID:12468279, PMID:20625172, PMID:20682460, PMID:22386973, PMID:23660394, PMID:23770102, PMID:24415674, PMID:25741868, PMID:26003046, PMID:26467025, PMID:27233232, PMID:28492532 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,288,021...114,307,334
Ensembl chr 3:114,287,718...114,307,250
JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,355,003...114,647,382
Ensembl chr 3:114,355,798...114,647,382
JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,129,387...114,147,943
Ensembl chr 3:114,129,589...114,147,926
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
Bainbridge-Ropers Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Bainbridge-Ropers syndrome
ClinVar Annotator: match by OMIM:615485
OMIM
ClinVar
PMID:21706002, PMID:23383720, PMID:24044690, PMID:25326635, PMID:25363760, PMID:25741868, PMID:26647312, PMID:27075689, PMID:27901041, PMID:28100473, PMID:28492532, PMID:28955728, PMID:29305346, PMID:29367179, PMID:32581362, PMID:32860008 NCBI chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome
ClinVar Annotator: match by OMIM:613680
OMIM
ClinVar
PMID:11060033, PMID:15998806, PMID:18414213, PMID:19059247, PMID:20503307, PMID:23621916, PMID:25741868, PMID:26739162, PMID:27102954, PMID:27295358, PMID:30476144 NCBI chr10:12,989,135...12,994,495
Ensembl chr10:12,989,135...12,994,495
JBrowse link
Beck-Fahrner Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: BECK-FAHRNER SYNDROME OMIM
ClinVar
PMID:25741868, PMID:31928709 NCBI chr 4:115,060,702...115,160,800
Ensembl chr 4:115,066,309...115,157,263
JBrowse link
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam172a family with sequence similarity 172, member A ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:4,942,795...5,547,744
Ensembl chr 2:4,942,775...5,545,144
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar Annotator: match by OMIM:615722
OMIM
ClinVar
PMID:10624948, PMID:11511537, PMID:14738874, PMID:18414213, PMID:19812316, PMID:20147377, PMID:23300014, PMID:24462372, PMID:24781210, PMID:25326637, PMID:25741868, PMID:25741869, PMID:25877686, PMID:26138355, PMID:26350515, PMID:26986877, PMID:28654857, PMID:28963436 NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:5,437,067...5,438,301
Ensembl chr 2:5,437,067...5,438,301
JBrowse link
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
JBrowse link
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: MACINNES SYNDROME ClinVar
OMIM
PMID:28257692 NCBI chr 2:19,823,234...19,824,804
Ensembl chr 2:19,823,234...19,824,804
JBrowse link
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY OMIM
ClinVar
PMID:24358150, PMID:28492532, PMID:29997391, PMID:30410802 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cyb561d2 cytochrome b561 family, member D2 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY ClinVar PMID:29997391, PMID:30410802 NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
JBrowse link
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ClinVar
OMIM
PMID:27567911, PMID:29545233 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oxr1 oxidation resistance 1 ISO OMIM NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
JBrowse link
cerebellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Ascc3 activating signal cointegrator 1 complex subunit 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr20:55,253,670...55,557,249
Ensembl chr20:55,253,686...55,556,473
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:31727539 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:32581362 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr14:2,020,110...2,032,169
Ensembl chr14:2,018,500...2,032,593
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr17:77,642,302...77,918,210 JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:10649495, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:15605411, PMID:15690354, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18429048, PMID:18586596, PMID:19459886, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:22812582, PMID:23426826, PMID:23588557, PMID:24126159, PMID:25435509, PMID:25741868, PMID:25946768, PMID:26847548, PMID:27094865, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843
JBrowse link
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:27322474, PMID:28492532, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31785787 NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
JBrowse link
G Pde11a phosphodiesterase 11A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:62,818,502...63,211,843
Ensembl chr 3:62,818,502...63,211,845
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378, PMID:32581362 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11156536, PMID:11343337, PMID:11517108, PMID:11589167, PMID:11891694, PMID:11916319, PMID:15714316, PMID:15844218, PMID:17166182, PMID:17920054, PMID:18948042, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25497157, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:27415628, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30311386, PMID:30740725, PMID:32581362, PMID:32860008 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Rnaset2 ribonuclease T2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9295267, PMID:9788728, PMID:10330339, PMID:11339651, PMID:12376936, PMID:15520412, PMID:18684116, PMID:23418007, PMID:23539563, PMID:25741868, PMID:26224725, PMID:28335910, PMID:28492532, PMID:30311386 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31327508, PMID:31327510 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
JBrowse link
Cerebellofaciodental Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519, PMID:25741868 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
JBrowse link
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Chondrodysplasia, megarbane-dagher-melki type
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type
ClinVar
OMIM
PMID:24786642, PMID:27354339 NCBI chr10:11,146,359...11,153,936
Ensembl chr10:11,146,359...11,153,936
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,384,632...87,390,627 JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,405,472...87,450,812
NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar