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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:Language Development Disorders
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Accession:DOID:9005466 term browser browse the term
Definition:Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors.
Synonyms:exact_synonym: Central Auditory Processing Disorder;   Developmental Disorder, Speech or Language;   Developmental Language Disorder;   Developmental Language Disorders;   Language Delay;   Language Delays;   Language Development Disorder;   Semantic Pragmatic Disorder;   Semantic-Pragmatic Disorders;   Speech Delay;   Speech Delays
 narrow_synonym: EXPRESSIVE LANGUAGE DELAY;   LANGUAGE RETARDATION
 primary_id: MESH:D007805;   RDO:0001603
For additional species annotation, visit the Alliance of Genome Resources.


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Language Development Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr  X:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar NCBI chr13:98,023,528...98,079,138
Ensembl chr13:98,023,430...98,078,946
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Speech 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 Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 2:206,293,679...206,305,705
Ensembl chr 2:206,293,720...206,305,702
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:34,894,419...34,909,265
Ensembl chr20:34,894,419...34,909,265
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:30311386 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Language delay
CTD
ClinVar
PMID:25741868, PMID:27120335 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:27,573,809...27,578,269
Ensembl chr20:27,575,533...27,578,244
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:27,651,817...27,673,817
Ensembl chr20:27,651,312...27,657,983
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:27,681,138...27,683,580
Ensembl chr20:27,681,036...27,682,861
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:10338090, PMID:12124992, PMID:15365998, PMID:16479318, PMID:25741868, PMID:28492532, PMID:29352562, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:30311386 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312, PMID:21082657, PMID:21310003 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:33,359,062...33,455,161
Ensembl chr20:33,359,196...33,453,766
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Language 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, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21114665 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:34,935,029...35,054,806
Ensembl chr20:34,936,050...35,054,881
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Language delay
CTD
ClinVar
PMID:25741868, PMID:27120335, PMID:30311386 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:16450403, PMID:30311386 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,607,653...32,628,953
Ensembl chr20:32,607,653...32,628,953
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Speech delay ClinVar NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:21378380, PMID:28400947, PMID:28492532, PMID:30311386 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:30311386 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 1:256,035,866...256,088,299
Ensembl chr 1:256,035,866...256,088,299
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 2:38,145,507...38,208,765
Ensembl chr 2:38,147,601...38,208,719
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 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 Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Language retardation ClinVar NCBI chr 1:219,000,844...219,050,211
Ensembl chr 1:219,000,844...219,050,211
JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,509,573...32,573,591
Ensembl chr20:32,509,598...32,572,250
JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:9,265,407...9,327,107
Ensembl chr 3:9,267,122...9,326,993
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr14:82,227,790...82,267,298
Ensembl chr14:82,227,708...82,267,350
JBrowse link
G Lrrc6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:23122589, PMID:23527195, PMID:23891469, PMID:28492532, PMID:30311386 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Man1a1 mannosidase, alpha, class 1A, member 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:35,257,688...35,450,132
Ensembl chr20:35,257,985...35,450,513
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
JBrowse link
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Speech delay
ClinVar Annotator: match by term: Language delay
ClinVar PMID:8177735, PMID:10508514, PMID:10854091, PMID:11035019, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11738883, PMID:12111643, PMID:12615169, PMID:12966523, PMID:15057977, PMID:15558314, PMID:15737703, PMID:16169931, PMID:16473305, PMID:16690727, PMID:16832102, PMID:16844334, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17351020, PMID:17387578, PMID:18337588, PMID:19652677, PMID:19914908, PMID:20151026, PMID:21154482, PMID:21982064, PMID:23421866, PMID:23921973, PMID:24399845, PMID:24458799, PMID:25741868, PMID:27354166, PMID:27799067, PMID:28492532, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Speech delay
ClinVar Annotator: match by term: Language delay
ClinVar PMID:25741868, PMID:30311386 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:1522835, PMID:7564788, PMID:7647779, PMID:7741859, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10732818, PMID:10869114, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28696419, PMID:29683944, PMID:30311386 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: Language delay ClinVar PMID:23929671, PMID:25741868, PMID:28492532, PMID:29331171, PMID:29440775, PMID:30311386 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:8088845, PMID:8098245, PMID:8268925, PMID:8889590, PMID:10472529, PMID:10479481, PMID:11180595, PMID:12409276, PMID:12501224, PMID:12655552, PMID:15557004, PMID:17935162, PMID:19292873, PMID:19394257, PMID:21147011, PMID:21871829, PMID:22300847, PMID:22513348, PMID:22763404, PMID:23500595, PMID:23792259, PMID:24048906, PMID:25596310, PMID:25741868, PMID:26666653, PMID:26803807, PMID:28492532, PMID:30311386 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:16133180, PMID:27225849, PMID:28492532, PMID:30311386 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:19862844, PMID:21541725, PMID:28492532, PMID:30311386 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Language delay
CTD
ClinVar
PMID:9286463, PMID:30311386 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:20400964, PMID:21990120, PMID:24800917, PMID:25741868, PMID:26261251, PMID:28492532, PMID:30311386 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:28492532, PMID:29358611, PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,709,282...32,764,040
Ensembl chr20:32,717,564...32,764,035
JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:33,100,190...33,323,544
Ensembl chr20:33,100,191...33,323,367
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:27,534,361...27,552,225
Ensembl chr20:27,535,324...27,552,349
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:19561605, PMID:19621418, PMID:25044164, PMID:28492532, PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr19:58,420,635...58,422,153
Ensembl chr19:58,419,961...58,421,504
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Language delay
CTD
ClinVar
PMID:25217958, PMID:25741868, PMID:30311386 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Shank1 SH3 and multiple ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 1:100,297,137...100,344,377
Ensembl chr 1:100,297,152...100,344,377
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284256, PMID:17173049 NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:33,772,314...34,420,970
Ensembl chr20:34,258,791...34,420,824
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 7:2,875,898...2,905,463
Ensembl chr 7:2,875,909...2,904,453
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:30311386 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:30311386 NCBI chr 3:108,795,337...108,861,650
Ensembl chr 3:108,795,235...108,857,556
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Speech 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 Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:27374773, PMID:27374774, PMID:30311386 NCBI chr 1:156,262,220...156,274,207
Ensembl chr 1:156,262,031...156,275,002
JBrowse link
G Trappc3l trafficking protein particle complex 3-like ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:27,578,268...27,664,689
Ensembl chr20:27,592,379...27,664,595
JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868, PMID:30311386 NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
JBrowse link
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868, PMID:30275004 NCBI chr20:4,993,539...5,008,259
Ensembl chr20:4,993,560...5,008,262
JBrowse link
G Vgll2 vestigial-like family member 2 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:33,077,106...33,082,962
Ensembl chr20:33,077,106...33,082,962
JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr13:99,493,117...99,532,775
Ensembl chr13:99,493,120...99,531,959
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:30311386 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:24824130 NCBI chr20:32,471,670...32,501,693
Ensembl chr20:32,471,672...32,501,722
JBrowse link
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612736
OMIM
ClinVar
CTD
PMID:2476685, PMID:8651275, PMID:9386672, PMID:11136556, PMID:11978605, PMID:12468279, PMID:12557293, PMID:15108290, PMID:15651030, PMID:16169544, PMID:16855203, PMID:17101918, PMID:17171576, PMID:17336114, PMID:19027335, PMID:19892372, PMID:21140503, PMID:22019491, PMID:23234264, PMID:23583224, PMID:23660394, PMID:24071436, PMID:24268530, PMID:24415674, PMID:25741868, PMID:26003046, PMID:26319512, PMID:26467025, PMID:28492532, PMID:32214227 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
JBrowse link
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY OMIM
ClinVar
PMID:25741868, PMID:30290153 NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355
JBrowse link
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot3 CCR4-NOT transcription complex, subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES ClinVar
OMIM
PMID:31201375 NCBI chr 1:64,130,823...64,147,066
Ensembl chr 1:64,130,908...64,147,251
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11b BAF chromatin remodeling complex subunit BCL11B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ClinVar
OMIM
PMID:25741868, PMID:27959755, PMID:29985992 NCBI chr 6:131,834,097...131,927,251
Ensembl chr 6:131,834,097...131,926,272
JBrowse link
intellectual disability-severe speech delay-mild dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Mental retardation with language impairment and with or without autistic features
ClinVar Annotator: match by OMIM:613670
OMIM
ClinVar
PMID:12692134, PMID:20571508, PMID:20950788, PMID:21572417, PMID:22670142, PMID:24214399, PMID:24267886, PMID:25131622, PMID:25326635, PMID:25363768, PMID:25741868, PMID:25853299, PMID:26647308, PMID:27657687, PMID:27824329, PMID:27899622, PMID:28492532, PMID:28708303, PMID:28741757, PMID:30311386 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia ClinVar
OMIM
PMID:27523599, PMID:27677260 NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
JBrowse link
Luscan-Lumish syndrome term browser
Symbol Object Name Qualifiers 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: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:29681085, PMID:30311386, PMID:30419952 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2ca protein phosphatase 2 catalytic subunit alpha ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES OMIM
ClinVar
PMID:25741868, PMID:30595372 NCBI chr10:37,534,449...37,554,861
Ensembl chr10:37,535,871...37,554,664
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar
OMIM
PMID:25741868, PMID:27389779 NCBI chr 9:60,451,476...60,843,160
Ensembl chr 9:60,457,215...60,672,246
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868, PMID:31668703 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
JBrowse link
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT OMIM
ClinVar
PMID:25741868, PMID:30661771 NCBI chr19:26,184,665...26,188,755
Ensembl chr19:26,184,545...26,188,832
JBrowse link
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: SNIJDERS BLOK-CAMPEAU SYNDROME
ClinVar Annotator: match by term: CHD3-Related Disorder
OMIM
ClinVar
PMID:25741868, PMID:29463886, PMID:30397230, PMID:31048695 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
specific language impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 susceptibility ISO DNA:SNPs: :(human) RGD PMID:18987363 RGD:13450918 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Tm4sf20 transmembrane 4 L six family member 20 ISS OMIM:606711 | OMIM:606712 | OMIM:607134 | OMIM:612514 | OMIM:615432 MouseDO NCBI chr 9:88,521,193...88,534,710
Ensembl chr 9:88,521,193...88,534,710
JBrowse link
Specific Language Impairment 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tm4sf20 transmembrane 4 L six family member 20 ISO ClinVar Annotator: match by OMIM:615432 OMIM
ClinVar
PMID:19557438, PMID:20848651, PMID:23806086, PMID:23810381, PMID:24088043 NCBI chr 9:88,521,193...88,534,710
Ensembl chr 9:88,521,193...88,534,710
JBrowse link
speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh18 cadherin 18 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 2:73,651,408...74,693,342
Ensembl chr 2:74,360,622...74,693,341
JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: CHILDHOOD APRAXIA OF SPEECH
ClinVar Annotator: match by term: Speech-language disorder 1
ClinVar Annotator: match by OMIM:602081
DNA:missense mutation:exon:p.R553H (human)
DNA:missense mutation: :p.P215A (human)
DNA:mutations:5' utr, exon, intron:multiple
DNA:deletions: :multiple
DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
OMIM
ClinVar
PMID:2332125, PMID:11586359, PMID:15877281, PMID:16470794, PMID:16984964, PMID:17033973, PMID:17330859, PMID:20858596, PMID:22105961, PMID:22106036, PMID:22144704, PMID:22434823, PMID:22766611, PMID:23918746, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386, PMID:11586359, PMID:19352412, PMID:15877281, PMID:17033973, PMID:16984964 RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702, RGD:11070093 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 6:60,958,351...61,859,457 JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 6:61,374,328...61,405,195
Ensembl chr 6:61,374,328...61,405,195
JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 2:231,881,893...231,944,760
Ensembl chr 2:231,884,337...231,940,877
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Language Development Disorders 133
        Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
        Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 1
        Intellectual Developmental Disorder with Seizures and Language Delay 0
        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
        LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
        Luscan-Lumish syndrome 1
        Mehes Syndrome 0
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
        Snijders Blok-Campeau Syndrome 1
        guanidinoacetate methyltransferase deficiency 2
        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
        specific language impairment + 2
        speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  communication disorder 291
                    language disorder 206
                      Language Development Disorders 133
                        Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
                        Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 1
                        Intellectual Developmental Disorder with Seizures and Language Delay 0
                        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
                        LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
                        Luscan-Lumish syndrome 1
                        Mehes Syndrome 0
                        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
                        Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
                        Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment 1
                        Snijders Blok-Campeau Syndrome 1
                        guanidinoacetate methyltransferase deficiency 2
                        intellectual disability-severe speech delay-mild dysmorphism syndrome 1
                        specific language impairment + 2
                        speech-language disorder-1 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.