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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 disorder
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Accession:DOID:93 term browser browse the term
Definition:Conditions characterized by deficiencies of comprehension or expression of written and spoken forms of language. These include acquired and developmental disorders.
Synonyms:exact_synonym: Acquired Language Disorder;   Acquired Language Disorders;   language disorders
 primary_id: MESH:D007806;   RDO:0004784
 xref: NCI:C97155
For additional species annotation, visit the Alliance of Genome Resources.


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language disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankk1 ankyrin repeat and kinase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chr 8:53,750,631...53,758,925
Ensembl chr 8:53,751,091...53,758,774
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Foxp2 forkhead box P2 ISO associated with Schizophrenia;DNA:SNP: :rs2253478 (human) RGD PMID:20649982 RGD:11535993 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
AGAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
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: Arginine:glycine amidinotransferase deficiency
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
ClinVar Annotator: match by term: AGAT deficiency
ClinVar Annotator: match by OMIM:612718
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:17576681 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:27233232 PMID:27577545 PMID:28492532 PMID:29654216 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G MGC105649 hypothetical LOC302884 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,772,603...114,776,156
Ensembl chr 3:114,772,603...114,776,155
JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,065,814...114,075,404
Ensembl chr 3:114,066,840...114,074,803
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 Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,805,919...114,828,154
Ensembl chr 3:114,805,922...114,828,154
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 Spata5l1 spermatogenesis associated 5-like 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,747,410...114,760,409
Ensembl chr 3:114,747,410...114,760,409
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
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
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,103,011...114,123,293
Ensembl chr 3:114,102,875...114,126,523
JBrowse link
aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7920660 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12690208 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
articulation disorder 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,haplotype: :rs253897(human) RGD PMID:25895914 RGD:11529633 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human)
DNA:SNPs::rs923875, rs17137124, rs1456031 (human)
RGD PMID:20923434, PMID:20923434 RGD:11535989, RGD:11535989 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
autosomal dominant mental retardation 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
ClinVar Annotator: match by OMIM:613443
OMIM
ClinVar
PMID:7679508 PMID:18414213 PMID:19592390 PMID:19876902 PMID:20333642 PMID:20513142 PMID:22031302 PMID:23001426 PMID:24088041 PMID:25741868 PMID:25741869 PMID:26633545 PMID:27255693 PMID:27748065 PMID:28492532 PMID:28554332 PMID:29706646 PMID:30376817 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
Dysarthria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dysarthria ClinVar NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
JBrowse link
G F5 coagulation factor V ISO RGD PMID:15026880 RGD:1580361 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:32581362 NCBI chr18:62,805,406...62,946,133
Ensembl chr18:62,805,410...62,944,630
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:27992417 PMID:32581362 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
dyslexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 susceptibility ISO DNA:snps:multiple (human)
DNA:deletion, snps:introns:multiple (human)
DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228)
DNA:snp:intron:c.760-430G>A (human) (rs807724)
RGD PMID:22750057, PMID:25130614, PMID:19238550, PMID:20068590, PMID:27100778 RGD:12910971, RGD:12910976, RGD:12910975, RGD:12910973, RGD:11532935 NCBI chr17:41,838,201...42,031,265
Ensembl chr17:41,838,201...42,031,265
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 susceptibility ISO ClinVar Annotator: match by term: WORD-BLINDNESS, CONGENITAL
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12954984 PMID:24033266 PMID:25741868 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
JBrowse link
G Drd4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:SNP: :rs12533005 (human)
DNA:SNPs: :multiple
RGD PMID:21897444, PMID:21897444 RGD:11535997, RGD:11535997 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Ncan neurocan ISO ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chr16:21,050,243...21,076,707
Ensembl chr16:21,050,243...21,076,707
JBrowse link
G RGD1307443 similar to mKIAA0319 protein susceptibility ISO OMIM NCBI chr17:42,163,245...42,226,725
Ensembl chr17:42,165,817...42,226,377
JBrowse link
Familial Persistent Stuttering 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Stuttering, familial persistent 1 OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:26544806 PMID:28492532 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
JBrowse link
Familial Persistent Stuttering 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Stuttering, familial persistent 2 ClinVar PMID:20147709 PMID:21956109 NCBI chr10:10,573,191...10,581,516
Ensembl chr10:10,573,191...10,581,516
JBrowse link
Focal Epilepsy with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:28492532 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:28492532 NCBI chr10:7,041,510...7,055,107
Ensembl chr10:7,041,510...7,055,101
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation
ClinVar Annotator: match by term: Focal epilepsy with speech disorder with or without mental retardation
OMIM
ClinVar
PMID:7574460 PMID:9526012 PMID:9536098 PMID:10996561 PMID:16537520 PMID:17576681 PMID:18414213 PMID:18718967 PMID:19286491 PMID:19292755 PMID:20384727 PMID:20890276 PMID:21376300 PMID:21499247 PMID:21507155 PMID:21559497 PMID:21681106 PMID:22833210 PMID:23033978 PMID:23294109 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:23940648 PMID:24455489 PMID:24463507 PMID:24504326 PMID:24828792 PMID:24848745 PMID:24903190 PMID:25164438 PMID:25326635 PMID:25356970 PMID:25596506 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26350204 PMID:26467025 PMID:26601054 PMID:26637798 PMID:26648591 PMID:26781712 PMID:26806548 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27781031 PMID:27839871 PMID:28102150 PMID:28109652 PMID:28492532 PMID:28936771 PMID:29056244 PMID:29124671 PMID:29317596 PMID:29358611 PMID:29778030 PMID:30544257 PMID:31429998 PMID:32238909 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: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:25741868 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:25741868 NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:28492532 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G RGD1309748 similar to CG4768-PA ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:28492532 NCBI chr10:6,841,071...6,870,011
Ensembl chr10:6,841,071...6,870,011
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:28492532 NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:28492532 NCBI chr10:6,930,462...7,019,910
Ensembl chr10:6,975,244...7,018,930
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 Autism and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: AUTS5 ClinVar
OMIM
PMID:25232744 PMID:25741868 PMID:30250039 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES ClinVar
OMIM
PMID:30021165 PMID:31616000 NCBI chr10:93,811,350...94,132,418
Ensembl chr10:93,811,350...94,127,697
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 Seizures and Language Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY OMIM
ClinVar
PMID:25741868 PMID:29322246 PMID:31110234 PMID:31685013 PMID:32546566 NCBI chr12:38,843,167...38,869,180
Ensembl chr12:38,845,621...38,869,346
JBrowse link
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY OMIM
ClinVar
PMID:25741868 PMID:27431290 PMID:32934225 PMID:33048237 NCBI chr 6:91,611,021...91,676,394 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:25741868 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:20950788 PMID:24214399 PMID:25131622 PMID:25326635 PMID:25363768 PMID:25741868 PMID:26647308 PMID:27657687 PMID:27824329 PMID:28492532 PMID:28708303 PMID:28741757 PMID:28884888 PMID:30385778 PMID:31199603 PMID:31474318 PMID:32860008 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 OMIM
ClinVar
PMID:25741868 PMID:27523599 PMID:27677260 NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
JBrowse link
Language Development Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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 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 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 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 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 Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Language delay ClinVar NCBI chr 6:11,662,356...11,737,427
Ensembl chr 6:11,662,356...11,686,682
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 CTD PMID:27120335 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Expressive language 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 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 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 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 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 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 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 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 TRP cation channel 1 ISO ClinVar Annotator: match by term: Language delay ClinVar 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:10854091 PMID:11055898 PMID:11738883 PMID:12111643 PMID:12966523 PMID:15737703 PMID:16473305 PMID:16690727 PMID:16844334 PMID:17089071 PMID:17387578 PMID:19652677 PMID:19914908 PMID:20151026 PMID:21982064 PMID:23921973 PMID:25741868 PMID:27799067 PMID:28492532 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 PMID:25741868 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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 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 Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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 Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:17561957 PMID:25741868 PMID:26096185 PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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 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 Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Language 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 Trappc3l trafficking protein particle complex subunit 3L 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 Ttn titin ISO ClinVar Annotator: match by term: Language delay ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 PMID:26467025 PMID:28492532 PMID:28750076 NCBI chr 3:63,565,160...63,837,815 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 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
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: LEMSPAD SYNDROME ClinVar
OMIM
PMID:25741868 PMID:32197074 NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146
JBrowse link
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat8 lysine acetyltransferase 8 ISO ClinVar Annotator: match by term: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME ClinVar
OMIM
PMID:31794431 NCBI chr 1:199,360,645...199,372,925
Ensembl chr 1:199,360,645...199,372,923
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:9536098 PMID:17576681 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:28166811 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
mutism 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:SNP,haplotype: :rs2710102,rs6944808(human) RGD PMID:21193173 RGD:13450911 NCBI chr 4:74,700,539...77,025,463 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
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
OMIM
ClinVar
PMID:25741868 PMID:29051493 PMID:30595372 NCBI chr10:37,534,449...37,554,861
Ensembl chr10:37,535,871...37,554,664
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
OMIM
ClinVar
PMID:25741868 PMID:31372774 PMID:31668703 PMID:31692205 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA OMIM
ClinVar
PMID:28940097 PMID:29302074 PMID:32761064 NCBI chr 3:79,960,301...80,003,023
Ensembl chr 3:79,960,301...80,003,032
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:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 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 Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS
OMIM
ClinVar
PMID:25741868 PMID:31036918 NCBI chr 9:81,844,138...81,868,086
Ensembl chr 9:81,844,138...81,868,086
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ClinVar
OMIM
PMID:31300657 NCBI chr 2:179,584,302...179,704,629
Ensembl chr 2:179,584,308...179,704,629
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES ClinVar
OMIM
PMID:25741868 PMID:32738225 PMID:32788587 NCBI chr18:59,986,350...60,002,644
Ensembl chr18:59,986,360...60,002,569
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES OMIM
ClinVar
PMID:25741868 PMID:32738225 NCBI chr18:59,986,350...60,002,644
Ensembl chr18:59,986,360...60,002,569
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
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES OMIM
ClinVar
PMID:32346159 NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
JBrowse link
Okur-Chung Neurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Okur-chung neurodevelopmental syndrome
ClinVar Annotator: match by term: CSNK2A1- Related Disorders
ClinVar
OMIM
PMID:11574463 PMID:24395637 PMID:25363768 PMID:25741868 PMID:27048600 PMID:28135719 PMID:28492532 PMID:28725024 PMID:29240241 PMID:29383814 PMID:29619237 NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
JBrowse link
Primary Progressive Aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin precursor ISO ClinVar Annotator: match by term: Primary progressive aphasia ClinVar PMID:12794388 PMID:16950801 PMID:17210807 PMID:17522386 PMID:17698705 PMID:18392865 PMID:18551524 PMID:20087814 PMID:20142524 PMID:20522652 PMID:21454553 PMID:21482928 PMID:22608501 PMID:25741868 PMID:26467025 PMID:26791154 PMID:28492532 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2378641 PMID:2783132 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:16969862 PMID:18955686 PMID:19923577 PMID:25741868 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
Primary Progressive Nonfluent Aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia
ClinVar Annotator: match by OMIM:300643
OMIM
ClinVar
PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 PMID:23933820 PMID:24995671 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547
JBrowse link
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5
ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5
ClinVar Annotator: match by OMIM:607459
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
OMIM
ClinVar
CTD
PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12565911 PMID:12872260 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25713120 PMID:25741868 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26357557 PMID:26467025 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27422324 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28206745 PMID:28337550 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:29029963 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29712893 PMID:29920680 PMID:30021052 PMID:30255931 PMID:30290626 PMID:30373890 PMID:30404819 PMID:30637288 PMID:30843307 PMID:31571979 PMID:31658717 PMID:31669236 PMID:32234506, PMID:22616202, PMID:18585914 RGD:8694285, RGD:8694282 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28166811 PMID:28492532 PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:607459
ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15668446 PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
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:28135719 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 disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Speech disorder ClinVar PMID:25741868 PMID:33217309 NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
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 Mfsd2a major facilitator superfamily domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26005865 NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Speech disorder ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 PMID:26467025 PMID:28492532 PMID:28750076 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
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: 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: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
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome OMIM
ClinVar
PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:17576681 PMID:22190180 PMID:23332920 PMID:24492416 PMID:24570283 PMID:24591628 PMID:24619930 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25741868 PMID:25918394 PMID:26184105 PMID:26436962 PMID:27066587 PMID:27239559 PMID:28166811 PMID:28492532 PMID:28624464 PMID:29237733 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
JBrowse link
stuttering term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISS OMIM:184450 | OMIM:609261 | OMIM:614655 | OMIM:614668 MouseDO NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21108403 NCBI chr 4:74,700,539...77,025,463 JBrowse link
VISSERS-BODMER SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: VISSERS-BODMER SYNDROME ClinVar
OMIM
PMID:25741868 PMID:32553196 NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by null ClinVar PMID:24375697 NCBI chr15:109,338,762...109,394,905
Ensembl chr15:109,339,564...109,394,927
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        communication disorder 240
          language disorder 141
            Giacheti Syndrome 0
            Hyperlexia 0
            Language Development Disorders + 76
            NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES 1
            agraphia 0
            aphasia + 5
            dyslexia + 7
            expressive language disorder 0
            nominal aphasia 0
            speech disorder + 66
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  communication disorder 240
                    language disorder 141
                      Giacheti Syndrome 0
                      Hyperlexia 0
                      Language Development Disorders + 76
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES 1
                      agraphia 0
                      aphasia + 5
                      dyslexia + 7
                      expressive language disorder 0
                      nominal aphasia 0
                      speech disorder + 66
paths to the root