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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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Developmental Disabilities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aar2 AAR2 splicing factor ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 3:152,626,738...152,648,365
Ensembl chr 3:152,626,757...152,649,609
JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 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 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:26539891 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 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 Agtpbp1 ATP/GTP binding carboxypeptidase 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 Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22228622 PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
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:28492532 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 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:24700674 PMID:25558065 PMID:25741868 NCBI chr12:19,314,222...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 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741885 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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 Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Global developmental delay
ClinVar Annotator: match by term: Developmental delay
ClinVar PMID:21706002 PMID:25741868 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
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 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:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24631656 PMID:24842602 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:28293679 PMID:28492532 PMID:28637637 PMID:30071271 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
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 Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:26539891 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 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:25741868 PMID:28942966 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 Btd biotinidase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:9654207 PMID:10206677 PMID:10400129 PMID:10801053 PMID:11313766 PMID:12227467 PMID:12618081 PMID:14628140 PMID:15776412 PMID:20539236 PMID:20549359 PMID:20556795 PMID:20981092 PMID:21228398 PMID:22975760 PMID:22995991 PMID:23644139 PMID:24033266 PMID:24525934 PMID:25087612 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27329734 PMID:28492532 PMID:28498829 PMID:28682309 PMID:29359854 PMID:31337602 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 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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:25741868 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 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
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:20694012 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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 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 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 Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16682973 PMID:16909394 PMID:17345604 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29588463 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 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: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 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 Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
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 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 Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
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 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 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 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 Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:23176821 PMID:25558065 PMID:25741868 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 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr14:83,089,000...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:28492532 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
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 NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
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 Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:170,473,792...170,570,220
Ensembl chr 1:170,471,272...170,565,063
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 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 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:25590979 PMID:25741868 PMID:27754416 PMID:29286531 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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:28492532 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: Global developmental delay ClinVar PMID:22492562 PMID:25741868 PMID:26893310 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:25741868 PMID:28017370 PMID:28017372 PMID:32581362 NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:25741880 NCBI chr10:90,932,071...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 PMID:25741868 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 PMID:32197074 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 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 Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
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 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 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 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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 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 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:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:31735425 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:25741868 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 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 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 PMID:31319223 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 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: Global developmental delay ClinVar 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 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 1:114,453,033...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 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 Hspb11 heat shock protein family B (small), member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31546644 NCBI chr 5:126,856,128...126,882,913
Ensembl chr 5:126,856,705...126,882,909
JBrowse link
G Hspb9 heat shock protein family B (small) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31546644 NCBI chr10:88,620,655...88,621,300
Ensembl chr10:88,620,655...88,621,300
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 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 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 Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22544367 PMID:25741868 PMID:25741877 NCBI chr10:92,388,045...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 Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16002581 PMID:25741868 NCBI chr18:39,331,894...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 Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741879 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 CTD PMID:23086397 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 Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr18:27,593,823...27,631,129
Ensembl chr18:27,576,129...27,631,088
JBrowse link
G Kif1a kinesin family member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30559488 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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 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 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 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 Lmbrd2 LMBR1 domain containing 2 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:32820033 NCBI chr 2:58,534,474...58,590,767
Ensembl chr 2:58,534,476...58,590,758
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 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 Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:30976112 NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
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 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 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 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 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:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 PMID:26168268 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:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10854091 PMID:10944854 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11055898 PMID:11058114 PMID:11106359 PMID:11214906 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:11738860 PMID:11738864 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11913567 PMID:11960578 PMID:12081725 PMID:12111643 PMID:12180070 PMID:12325033 PMID:12746405 PMID:12872250 PMID:12872251 PMID:14536082 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15228575 PMID:15389714 PMID:15526954 PMID:15737703 PMID:16077729 PMID:16183801 PMID:16473305 PMID:16629931 PMID:16672765 PMID:17089071 PMID:17341617 PMID:17387578 PMID:17505203 PMID:17986102 PMID:18334558 PMID:18652533 PMID:19559301 PMID:19722030 PMID:20031356 PMID:20301670 PMID:20631224 PMID:21154482 PMID:21160487 PMID:21695138 PMID:21982064 PMID:22277191 PMID:23238081 PMID:23262346 PMID:23270700 PMID:24283265 PMID:24399845 PMID:24511209 PMID:24626160 PMID:25167861 PMID:25541993 PMID:25741868 PMID:26467025 PMID:28492532 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 Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741884 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
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 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 Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28027978 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:28027978 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741892 PMID:28492532 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 Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:55,274,910...55,406,738
Ensembl chr10:55,275,411...55,406,732
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 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 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 Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22241097 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 PMID:25741868 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
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 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 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 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 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 Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 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:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:29550517 PMID:30113927 PMID:30588754 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 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 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 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 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 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 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:30976099 PMID:32581362 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
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 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 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 NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497
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 PMID:32019516 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 Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 PMID:26168268 PMID:30676711 NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
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 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Psmd12 proteasome 26S subunit, non-ATPase 12 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr10:95,706,808...95,725,452
Ensembl chr10:95,706,685...95,725,812
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Global developmental delay
CTD
ClinVar
PMID:18759867 PMID:19265751 PMID:19321504 PMID:25741868 NCBI chr 1:251,421,814...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:11992261 PMID:14644997 PMID:15539800 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25741868 PMID:28363362 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:25741868 PMID:31395947 NCBI chr 8:118,628,777...118,651,238
Ensembl chr 8:118,628,777...118,651,238
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 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 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:28492532 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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 Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16931511 PMID:17686188 PMID:25741902 PMID:26467025 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G Rbm8a RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:22366785 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28857120 NCBI chr 2:198,755,261...198,758,028
Ensembl chr 2:198,755,262...198,758,028
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
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 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 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 Rrp8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 1:170,574,670...170,578,693
Ensembl chr 1:170,574,349...170,579,616
JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr20:48,881,124...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 Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:25741868 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: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:30642272 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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 Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar 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:9285796 PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 PMID:22976768 PMID:25741868 PMID:26787381 PMID:27590925 PMID:28492532 PMID:29023963 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:32581362 NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
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 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 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 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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 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:25590979 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 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 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 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 Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Developmental delay
ClinVar Annotator: match by term: Global developmental delay
ClinVar PMID:25741868 PMID:28492532 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
G Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:31616000 NCBI chr10:93,811,350...94,132,418
Ensembl chr10:93,811,350...94,127,697
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 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:25741868 PMID:27040691 PMID:27040692 PMID:28492532 PMID:29283439 PMID:31618753 NCBI chr 2:237,751,646...237,958,497
Ensembl chr 2:237,751,654...237,958,497
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:25741868 PMID:25741890 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 Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 4:115,060,702...115,160,800
Ensembl chr 4:115,066,309...115,157,263
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 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 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 Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
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 Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:25741868 PMID:31278393 NCBI chr 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583
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 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:16470708 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 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: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 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 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 Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Developmental delay ClinVar PMID:31327508 PMID:31327510 PMID:31474318 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:23176820 PMID:23687123 PMID:25356899 PMID:25741868 PMID:25741886 PMID:25741887 PMID:28492532 PMID:28932395 PMID:29171013 PMID:29981852 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 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 Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar PMID:27633801 NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar NCBI chr 9:81,844,138...81,868,086
Ensembl chr 9:81,844,138...81,868,086
JBrowse link
G Zmynd11 zinc finger, MYND-type containing 11 ISO ClinVar Annotator: match by term: Global developmental delay ClinVar 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 MBL associated serine protease 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: AGAT deficiency
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:27577545 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
AMED SYNDROME, DIGENIC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED SYNDROME, DIGENIC OMIM
ClinVar
PMID:33355142 NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:16046871 PMID:16440063 PMID:17885622 PMID:18056758 PMID:20010786 PMID:33355142 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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:23383720 PMID:25326635 PMID:25741868 PMID:26647312 PMID:26694549 PMID:27075689 PMID:27901041 PMID:28100473 PMID:28492532 PMID:29305346 PMID:29367179 PMID:31180560 PMID:32295525 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:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 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:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:26138355 PMID:26350515 PMID:26986877 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:25741868 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 Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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 Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
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:21735175 PMID:25326635 PMID:25741868 PMID:31474318 PMID:32581362 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:26235985 PMID:31474318 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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 Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr15:48,601,259...48,670,257
Ensembl chr15:48,601,266...48,670,257
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 Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:8929944 PMID:16650080 PMID:31474318 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
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: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:31474318 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137
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 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:10571956 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11156536 PMID:11517108 PMID:11589167 PMID:11916319 PMID:15844218 PMID:16376131 PMID:16540464 PMID:16825284 PMID:17166182 PMID:18948042 PMID:19357119 PMID:20301289 PMID:21541725 PMID:24033266 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30740725 PMID:31474318 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:31474318 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29276005 PMID:31474318 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 PMID:32963807 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr20:237,461...285,125
Ensembl chr20:237,506...284,943
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 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 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957 PMID:25741868 PMID:31474318 NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
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 PMID:31474318 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 LOC102554746 uncharacterized LOC102554746 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,559,028...45,581,410 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 NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103
Ensembl chr15:39,712,861...39,742,103
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
JBrowse link
chromosome 17p13.3 duplication syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abr ABR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:64,565,121...64,657,079
Ensembl chr10:64,567,268...64,657,089
JBrowse link
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
JBrowse link
G Crk CRK proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,829,731...63,855,999
Ensembl chr10:63,829,807...63,852,780
JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,471,330...63,491,713
Ensembl chr10:63,471,331...63,491,713
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
JBrowse link
Cohen syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 7:74,423,233...74,423,305
Ensembl chr 7:74,423,233...74,423,305
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Pepper syndrome
ClinVar Annotator: match by OMIM:216550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22527104 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334764 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28631888 PMID:28832562 PMID:29431110 PMID:29453417 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30602132 PMID:32860008 NCBI chr 7:74,118,834...74,722,341 JBrowse link
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar
OMIM
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27681385 PMID:28454995 PMID:30167850 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
JBrowse link
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
ClinVar
OMIM
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30702837 NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
JBrowse link
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM
ClinVar
PMID:17067864 PMID:25741868 PMID:30827498 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
Desanto-Shinawi Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME
ClinVar Annotator: match by term: Desanto-shinawi syndrome
ClinVar
OMIM
PMID:25741868 PMID:26264232 PMID:26757981 PMID:29190062 NCBI chr17:60,887,606...60,946,630
Ensembl chr17:60,888,017...60,946,426
JBrowse link
Developmental Delay with or without Dysmorphic Facies and Autism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM OMIM
ClinVar
PMID:25741868 PMID:30424743 PMID:30827496 NCBI chr12:11,537,950...11,627,563
Ensembl chr12:11,537,950...11,627,563
JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28771897 PMID:32693025 NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
JBrowse link
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar PMID:23033978 PMID:25741868 PMID:29209020 NCBI chr 8:90,343,307...90,360,085
Ensembl chr 8:90,343,154...90,360,086
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar
OMIM
PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 PMID:29209020 NCBI chr 8:90,387,339...90,483,964
Ensembl chr 8:90,392,143...90,483,077
JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsx2 GS homeobox 2 ISO ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 ClinVar
OMIM
PMID:31412107 NCBI chr14:35,650,985...35,652,709
Ensembl chr14:35,650,985...35,652,709
JBrowse link
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar
PMID:11690625 PMID:24668509 PMID:25741868 PMID:26048982 PMID:26795593 PMID:26834045 PMID:28940898 PMID:30923367 PMID:31688097 PMID:31929336 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:25741868 PMID:26974950 PMID:29463886 PMID:31197650 PMID:31595951 NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
JBrowse link
Forebrain Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Forebrain defects ClinVar PMID:11062482 PMID:12073012 NCBI chr 8:119,226,651...119,259,649
Ensembl chr 8:119,228,612...119,259,645
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO ClinVar Annotator: match by null ClinVar PMID:11062482 PMID:12073012 NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by term: Frank-Ter Haar syndrome
ClinVar Annotator: match by term: Frank Ter Haar syndrome
ClinVar Annotator: match by OMIM:249420
OMIM
ClinVar
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
JBrowse link
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cux1 cut-like homeobox 1 ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar
PMID:25741868 PMID:30014507 NCBI chr12:23,150,886...23,470,095
Ensembl chr12:23,151,180...23,445,074
JBrowse link
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
ClinVar
OMIM
PMID:12840224 PMID:25741868 PMID:27964749 NCBI chr11:70,509,909...70,618,422
Ensembl chr11:70,514,750...70,618,347
JBrowse link
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
ClinVar Annotator: match by term: GLOW SYNDROME
ClinVar
OMIM
PMID:24676357 PMID:28492532 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE OMIM
ClinVar
NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
JBrowse link
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
ClinVar Annotator: match by OMIM:612938
OMIM
ClinVar
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 PMID:24289790 PMID:25741868 PMID:26378117 PMID:26820768 PMID:27105045 PMID:28492532 NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: HEYN-SPROUL-JACKSON SYNDROME ClinVar
OMIM
PMID:30478443 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614300
OMIM
ClinVar
CTD
PMID:21963049 PMID:25741868 PMID:26975589 PMID:28492532 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT OMIM
ClinVar
PMID:25741868 PMID:31155284 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome
ClinVar Annotator: match by term: EBF3-related disorder
ClinVar
OMIM
PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28492532 PMID:32581362 NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME OMIM
ClinVar
PMID:25741868 PMID:27094857 NCBI chr14:82,762,109...82,789,350
Ensembl chr14:82,762,190...82,789,319
JBrowse link
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ClinVar
OMIM
PMID:26619011 PMID:29018201 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
Kat6a Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: KAT6A syndrome ClinVar PMID:17374998 PMID:25728775 PMID:25741868 PMID:27133397 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar
PMID:19610118 PMID:25620207 PMID:25741868 NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
Lamb-Shaffer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Lamb-shaffer syndrome ClinVar
OMIM
PMID:22290657 PMID:23220431 PMID:23498568 PMID:25741868 PMID:26111154 PMID:28708303 NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ClinVar
OMIM
PMID:25741868 PMID:32197074 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
Lissencephaly 7 with Cerebellar Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
Loucks-Innes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair
ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:26220823 NCBI chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407
JBrowse link
Luscan-Lumish syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: LUSCAN-LUMISH SYNDROME
ClinVar Annotator: match by term: Luscan-lumish syndrome
ClinVar
OMIM
PMID:20864444 PMID:22495309 PMID:23160955 PMID:24267886 PMID:24728327 PMID:24852293 PMID:24901346 PMID:25574603 PMID:25741868 PMID:26084711 PMID:26467025 PMID:26580448 PMID:27317772 PMID:27455002 PMID:28424246 PMID:28492532 PMID:28577310 PMID:29276005 PMID:29681085 PMID:30419952 PMID:31474318 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM ClinVar
OMIM
PMID:23181898 PMID:27582084 NCBI chr 3:98,293,295...98,300,763
Ensembl chr 3:98,297,554...98,300,680
JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars cysteinyl-tRNA synthetase ISO ClinVar Annotator: match by term: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ClinVar
OMIM
PMID:30824121 NCBI chr 1:216,759,367...216,801,652
Ensembl chr 1:216,759,366...216,801,656
JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10
ClinVar Annotator: match by term: Microcephaly, seizures and developmental delay
ClinVar Annotator: match by OMIM:613402
OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31167812 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM
ClinVar
PMID:8627443 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:28155230 PMID:28812649 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ClinVar
OMIM
PMID:28763441 NCBI chr 5:24,446,002...24,493,819
Ensembl chr 5:24,445,886...24,493,670
JBrowse link
Nizon-Isidor Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: NIZON-ISIDOR SYNDROME ClinVar
OMIM
PMID:31155615 NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: NIZON-ISIDOR SYNDROME ClinVar PMID:31155615 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay OMIM
ClinVar
PMID:15494731 PMID:25741868 PMID:27884935 PMID:29100083 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
Ogden syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: N-terminal acetyltransferase deficiency
ClinVar Annotator: match by OMIM:300855
OMIM
ClinVar
PMID:18414213 PMID:21700266 PMID:23020937 PMID:25099252 PMID:25326635 PMID:25489052 PMID:25741868 PMID:26522270 PMID:27094817 PMID:28327206 PMID:28492532 PMID:28708303 PMID:29558889 PMID:31174490 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Oliver-McFarlane syndrome
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ClinVar
OMIM
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25574898 PMID:25741868 PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ClinVar PMID:25741868 NCBI chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
JBrowse link
Osteosclerotic Metaphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:127,166,866...127,301,053
Ensembl chr 1:127,166,431...127,292,090
JBrowse link
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp2 tubulin, gamma complex associated protein 2 ISO ClinVar Annotator: match by term: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES ClinVar
OMIM
PMID:31630790 NCBI chr 1:212,333,740...212,359,352
Ensembl chr 1:212,333,741...212,354,273
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar
OMIM
PMID:25741868 PMID:27694961 PMID:32238909 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
JBrowse link
Pierpont syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 TBL1X receptor 1 ISO ClinVar Annotator: match by term: Pierpont syndrome
ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
ClinVar Annotator: match by term: Plantar lipomatosis, unusual facies, and developmental delay
ClinVar
OMIM
PMID:9450851 PMID:18414213 PMID:23160955 PMID:25102098 PMID:25741868 PMID:26467025 PMID:26740553 PMID:26769062 PMID:27824329 PMID:28492532 PMID:28562391 PMID:28574232 PMID:28588275 PMID:30365874 PMID:30577886 PMID:31394400 NCBI chr 2:107,221,913...107,359,229
Ensembl chr 2:107,233,054...107,359,229
JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868 PMID:25855803 PMID:26752647 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:28492532 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
JBrowse link
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocln occludin ISO ClinVar Annotator: match by term: Band-like calcification with simplified gyration and polymicrogyria
ClinVar Annotator: match by OMIM:251290
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
JBrowse link
Pseudo-TORCH Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 2
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2
ClinVar
OMIM
PMID:12833411 PMID:27325888 PMID:31940699 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
Pseudo-TORCH Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 3 ClinVar
OMIM
PMID:31836668 PMID:32092142 NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications ClinVar PMID:19161147 PMID:25741868 PMID:29573043 PMID:29979980 PMID:30014610 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Rajab syndrome ClinVar
OMIM
PMID:29979980 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 OMIM
ClinVar
PMID:31355908 NCBI chr19:25,969,255...25,978,777
Ensembl chr19:25,969,255...25,978,776
JBrowse link
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
ClinVar
OMIM
PMID:25741868 PMID:27476655 NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
JBrowse link
Short Stature, Developmental Delay, and Congenital Heart Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tkt transketolase ISO ClinVar Annotator: match by OMIM:617044 ClinVar
OMIM
PMID:27259054 NCBI chr16:6,609,670...6,634,608
Ensembl chr16:6,609,668...6,634,595
JBrowse link
SIDDIQI SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: SIDDIQI SYNDROME OMIM
ClinVar
PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr 3:159,856,994...159,863,506
Ensembl chr 3:159,856,994...159,863,506
JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar
OMIM
PMID:24033266 PMID:25193871 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
JBrowse link
Snijders Blok-Fisher Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou3f3 POU class 3 homeobox 3 ISO ClinVar Annotator: match by term: SNIJDERS BLOK-FISHER SYNDROME OMIM
ClinVar
PMID:25741868 PMID:31303265 NCBI chr 9:49,479,148...49,482,246
Ensembl chr 9:49,479,023...49,482,252
JBrowse link
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:271980
OMIM
ClinVar
CTD
PMID:1301198 PMID:9683595 PMID:10633133 PMID:11243727 PMID:12208142 PMID:12507422 PMID:14523039 PMID:14635103 PMID:16115930 PMID:20018576 PMID:22437753 PMID:23430864 PMID:23825041 PMID:24033266 PMID:25431891 PMID:25641190 PMID:25741868 PMID:26220405 PMID:26964512 PMID:27104484 PMID:27117035 PMID:27896081 PMID:28492532 PMID:28664505 PMID:29031482 PMID:29895405 PMID:31117962 PMID:32238909 PMID:32887777 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr17:42,085,027...42,131,344
Ensembl chr17:42,085,028...42,127,678
JBrowse link
Turnpenny-Fry Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: TURNPENNY-FRY SYNDROME OMIM
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
VERVERI-BRADY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: VERVERI-BRADY SYNDROME ClinVar
OMIM
PMID:25741868 PMID:28692176 PMID:30281152 NCBI chr 8:117,305,803...117,346,738
Ensembl chr 8:117,307,339...117,346,736
JBrowse link
WEISS-KRUSZKA SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome
ClinVar Annotator: match by term: WEISS-KRUSZKA SYNDROME
OMIM
ClinVar
PMID:25741868 PMID:28513610 PMID:31361404 NCBI chr 5:71,679,841...71,824,077
Ensembl chr 5:71,742,911...71,823,139