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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:A communication disorder that involves the processing of linguistic information. (DO)
Synonyms:exact_synonym: acquired language disorder;   acquired language disorders;   language disorders
 primary_id: MESH:D007806
 xref: EFO:0005425;   NCI:C97155


show annotations for term's descendants           Sort by:
language disorder 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: Language disorder ClinVar NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
G Ankk1 ankyrin repeat and kinase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Foxp2 forkhead box P2 ISO associated with Schizophrenia;DNA:SNP: :rs2253478 (human) RGD PMID:20649982 RGD:11535993 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Language disorder ClinVar PMID:25741868 PMID:27353043 PMID:28492532 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Language disorder ClinVar PMID:31997314 NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480 		JBrowse link
AGAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		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 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G C3h15orf48 similar to human chromosome 15 open reading frame 48 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006
Ensembl chr 3:109,719,897...109,724,006 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253 		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 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328 		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 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702 		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 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		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 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037 		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:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12690208 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		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 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		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 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730 		JBrowse link
developmental delay, hypotonia, and impaired language term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:35395208 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities | ClinVar Annotator: match by term: SPTBN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:33847457 PMID:34211179 NCBI chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507 		JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: ARFGEF1-related condition | ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:34113008 NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326 		JBrowse link
Developmental Delay, Language Impairment, and Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities OMIM
ClinVar		 PMID:25741868 PMID:35047857 NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785 		JBrowse link
Dysarthria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO RGD PMID:15026880 RGD:1580361 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:32581362 NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:27992417 PMID:32581362 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		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 chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1		 CTD
OMIM
ClinVar		 PMID:12954984 PMID:23872636 PMID:24033266 PMID:25186273 PMID:25741868 More... NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Drd4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		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 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G Ncan neurocan ISO ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chr16:19,301,969...19,328,436
Ensembl chr16:19,301,969...19,328,436 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35940320 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		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: AP4E1-related condition | ClinVar Annotator: match by term: Stuttering, familial persistent, 1 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752 		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 PMID:25741868 NCBI chr10:10,380,262...10,388,609
Ensembl chr10:10,380,264...10,388,592 		JBrowse link
Familial Persistent Stuttering 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc3 armadillo repeat containing 3 ISO ClinVar Annotator: match by term: Stuttering, familial persistent, 4 ClinVar NCBI chr17:81,814,087...81,917,534
Ensembl chr17:81,832,518...81,917,531 		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 Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Dystonia, intellectual disability and language impairment | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar		 PMID:7574460 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS-like 2 ISO Geleophysic dysplasia, ADMATSL2-related OMIA PMID:20862248 PMID:28158899 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Global developmental delay with speech and behavioral abnormalities | ClinVar Annotator: match by term: TNRC6B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29463886 PMID:32152250 PMID:33004838 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790 		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
ISS		 ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition
OMIM:612736
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195 		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 Annotator: match by term: Autism, susceptibility to, 5 OMIM
ClinVar		 PMID:11353400 PMID:25232744 PMID:25741868 PMID:28492532 PMID:30250039 More... NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041 		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 WITH SEIZURES | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures | ClinVar Annotator: match by term: TANC2-related condition OMIM
ClinVar		 PMID:23033978 PMID:25741868 PMID:28492532 PMID:28754924 PMID:30021165 More... NCBI chr10:90,553,124...90,873,477
Ensembl chr10:90,553,002...90,868,756 		JBrowse link
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition OMIM
ClinVar		 PMID:25741868 PMID:34314705 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism OMIM
ClinVar		 PMID:25741868 PMID:29758562 PMID:29770430 PMID:31428396 PMID:31922365 More... NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877 		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 Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay ClinVar PMID:25741868 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related condition | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders OMIM
ClinVar		 PMID:10975528 PMID:25741868 PMID:28492532 PMID:30290153 PMID:31504246 More... NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383 		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 | ClinVar Annotator: match by term: SETD1B-associated disorder | ClinVar Annotator: match by term: SETD1B-related condition OMIM
ClinVar		 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More... NCBI chr12:33,395,963...33,421,671
Ensembl chr12:33,396,120...33,426,934 		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 Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy ClinVar PMID:25741868 NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187 		JBrowse link
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:33004807 PMID:33048237 NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31201375 PMID:32720325 NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167 		JBrowse link
G Leng1 leukocyte receptor cluster member 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:29758562 NCBI chr 1:65,551,983...65,556,915
Ensembl chr 1:65,551,983...65,556,915 		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 BCL11 transcription factor B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities OMIM
ClinVar		 PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 PMID:32659295 More... NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224 		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: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features OMIM
ClinVar		 PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 More... NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		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 PMID:29368331 PMID:30631341 More... NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069 		JBrowse link
Language Development Disorders 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 DNA:SNPs,haplotype::rs11604671, rs2734849,rs1800497(human) RGD PMID:23691092 RGD:401959324 NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024 		JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr14:17,723,239...17,861,841
Ensembl chr14:17,721,932...17,862,617 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Expressive language delay ClinVar NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 PMID:21082657 PMID:21310003 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21114665 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:SNP,haplotype::rs6278(human) RGD PMID:23691092 RGD:401959324 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359 		JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		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 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Language retardation ClinVar NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819 		JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284256 PMID:17173049 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374 		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: EIF2AK1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32197074 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573 		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 OMIM
ClinVar		 PMID:25741868 PMID:31794431 NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633 		JBrowse link
Luscan-Lumish Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252 		JBrowse link
G Klhl18 kelch-like family member 18 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323 		JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271 		JBrowse link
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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489 		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 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		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:28333917 PMID:28492532 PMID:29051493 PMID:30595372 NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wasf1 WASP family member 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures | ClinVar Annotator: match by term: WASF1-related condition | ClinVar Annotator: match by term: WASF1-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:29961568 PMID:32581362 PMID:34356165 PMID:34845217 NCBI chr20:44,325,815...44,372,999
Ensembl chr20:44,325,795...44,372,996 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube3c ubiquitin protein ligase E3C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:36401616 NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011 		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 OMIM
ClinVar		 PMID:25741868 PMID:31372774 PMID:31668703 PMID:31692205 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia ClinVar PMID:25741868 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383 		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: MADD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28940097 PMID:29302074 PMID:32761064 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701 		JBrowse link
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36044892 NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:33420346 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chr 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu4-2 RNA, U4 small nuclear 2 ISO ClinVar Annotator: match by term: ReNU SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:38821540 PMID:38859706 NCBI chr 5:124,264,229...124,264,369
Ensembl chr 5:124,264,229...124,264,369 		JBrowse link
G Sirt4 sirtuin 4 ISO ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38821540 PMID:38859706 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai1 G protein subunit alpha i1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28135719 PMID:28492532 PMID:33473207 PMID:34819662 NCBI chr 4:16,814,000...16,898,119
Ensembl chr 4:16,814,001...16,896,417 		JBrowse link
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ClinVar NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures OMIM
ClinVar		 PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		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 Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr 9:56,126,746...56,427,661
Ensembl chr 9:56,126,747...56,427,508 		JBrowse link
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327 		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 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890 		JBrowse link
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 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: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MEF2C-related disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE OMIM
ClinVar		 PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 More... NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:28180184 PMID:28492532 PMID:34375587 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375 		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 OMIM
ClinVar		 PMID:25741868 PMID:30389958 PMID:31036918 PMID:35616059 PMID:35618198 More... NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		JBrowse link
neurodevelopmental disorder with language delay and seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures OMIM
ClinVar		 PMID:25741868 PMID:35240055 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and variable cognitive abnormalities ClinVar
OMIM		 PMID:25741868 PMID:36103875 NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31300657 NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder OMIM
ClinVar		 PMID:35979925 NCBI chr 3:90,152,305...90,230,447
Ensembl chr 3:90,153,620...90,230,502 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34585293 PMID:35790048 PMID:35815345 NCBI chr 6:127,776,088...127,807,273
Ensembl chr 6:127,776,090...127,807,269 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb1 proteasome 20S subunit beta 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language ClinVar
OMIM		 PMID:32129449 NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32165824 PMID:32738225 PMID:32788587 More... NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622 		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:28492532 PMID:32165824 PMID:32738225 NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622 		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: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment OMIM
ClinVar		 PMID:25741868 PMID:30661771 NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent language OMIM
ClinVar		 PMID:25741868 PMID:28327206 PMID:28492532 PMID:29100085 PMID:32581362 More... NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy ClinVar
OMIM		 PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm3 acyl-CoA synthetase medium-chain family member 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies ClinVar PMID:25741868 PMID:30237576 PMID:35196516 NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184 		JBrowse link
G Thumpd1 THUMP domain containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies ClinVar
OMIM		 PMID:25741868 PMID:30237576 PMID:35196516 NCBI chr 1:174,078,875...174,084,915
Ensembl chr 1:174,078,878...174,084,937 		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 | ClinVar Annotator: match by term: SETD1A-related condition OMIM
ClinVar		 PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:28492532 More... NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090 		JBrowse link
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: CACNA1I-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33704440 NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688 		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: CSNK2A1- Related Disorders | ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome OMIM
ClinVar		 PMID:11574463 PMID:24395637 PMID:25363768 PMID:25741868 PMID:27048600 More... NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696 		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: APHASIA, PRIMARY PROGRESSIVE | ClinVar Annotator: match by term: Primary progressive aphasia ClinVar PMID:6497355 PMID:9536098 PMID:12794388 PMID:16862116 PMID:16950801 More... NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		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 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
progressive non-fluent 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 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16497722 PMID:18718938 PMID:21053371 PMID:22091964 PMID:23352160 More... NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
semantic dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Semantic dementia ClinVar PMID:25741868 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		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 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)		 OMIM
ClinVar
CTD
RGD		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... RGD:8694285, RGD:8694282 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		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 Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824 		JBrowse link
G Twnk twinkle mtDNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 CTD
ClinVar		 PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		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: CHD3-related disorder | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome OMIM
ClinVar		 PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 More... NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494 		JBrowse link
G Scarna21 small Cajal body-specific RNA 21 ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098 		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 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		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 term: Specific language impairment 5 OMIM
ClinVar		 PMID:19557438 PMID:20848651 PMID:23806086 PMID:23810381 PMID:24088043 More... NCBI chr 9:84,038,715...84,052,615
Ensembl chr 9:84,038,715...84,052,615 		JBrowse link
speech disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO CTD Direct Evidence: marker/mechanism CTD PMID:26005865 NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Speech disorder ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		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: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 2:72,818,076...73,820,144
Ensembl chr 2:73,345,005...73,820,138 		JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: Speech-language disorder 1
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
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702, RGD:11070093 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:58,070,035...58,970,165
Ensembl chr 6:58,070,283...58,969,840 		JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:58,489,060...58,520,322
Ensembl chr 6:58,489,010...58,520,330 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750 		JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO
ISS		 OMIM:185070
ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS		 OMIM
MouseDO
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		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 ISO ClinVar Annotator: match by term: STAMMERING ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21108403 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		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: CNOT1-related disorder | ClinVar Annotator: match by term: Vissers-Bodmer syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32553196 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
G Setd6 SET domain containing 6, protein lysine methyltransferase ISO ClinVar Annotator: match by term: CNOT1-related disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453 		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 term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Neurodevelopmental Disorders 6942
        communication disorder 413
          language disorder 165
            Giacheti Syndrome 0
            Hyperlexia 0
            Language Development Disorders + 68
            NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES 1
            NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES 1
            NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER 1
            NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE 1
            NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 1
            NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY 1
            Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 1
            agraphia 0
            aphasia + 6
            dyslexia + 9
            expressive language disorder 0
            nominal aphasia 0
            speech disorder + 83
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      nervous system disease 14255
        central nervous system disease 12587
          brain disease 11812
            disease of mental health 8412
              developmental disorder of mental health 5641
                specific developmental disorder 4600
                  communication disorder 413
                    language disorder 165
                      Giacheti Syndrome 0
                      Hyperlexia 0
                      Language Development Disorders + 68
                      NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES 1
                      NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES 1
                      NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER 1
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE 1
                      NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 1
                      NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY 1
                      Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 1
                      agraphia 0
                      aphasia + 6
                      dyslexia + 9
                      expressive language disorder 0
                      nominal aphasia 0
                      speech disorder + 83
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