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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 chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616 		JBrowse link
G ANKK1 ankyrin repeat and kinase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chr 5:19,801,511...19,814,359
Ensembl chr 5:19,801,542...19,814,481 		JBrowse link
G DRD2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241 		JBrowse link
G FOXP2 forkhead box P2 ISO associated with Schizophrenia;DNA:SNP: :rs2253478 (human) RGD PMID:20649982 RGD:11535993 NCBI chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Language disorder ClinVar PMID:25741868 PMID:27353043 PMID:28492532 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Language disorder ClinVar PMID:31997314 NCBI chr 3:37,348,167...37,548,357
Ensembl chr 3:37,348,170...37,548,885 		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 chr30:11,767,166...11,788,402
Ensembl chr30:11,767,064...11,788,398 		JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997 		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 chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
G C30H15orf48 chromosome 30 C15orf48 homolog ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 Ensembl chr30:11,795,781...11,800,915
Ensembl chr30:11,795,781...11,800,915 		JBrowse link
G DUOX1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,556,024...11,588,203
Ensembl chr30:11,556,024...11,588,202 		JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716 		JBrowse link
G DUOXA1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,546,285...11,555,715
Ensembl chr30:11,547,014...11,555,110 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,541,849...11,546,019
Ensembl chr30:11,542,078...11,545,811 		JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency OMIM
ClinVar		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G PATL2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,306,972...11,316,454
Ensembl chr30:11,307,492...11,316,427 		JBrowse link
G SHF Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,589,648...11,609,425
Ensembl chr30:11,590,211...11,609,837 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,827,719...11,859,413
Ensembl chr30:11,834,678...11,859,311 		JBrowse link
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,467,259...11,501,166
Ensembl chr30:11,467,253...11,500,641 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,233,709...11,305,454
Ensembl chr30:11,233,718...11,305,485 		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 chr30:11,414,656...11,436,119
Ensembl chr30:11,414,737...11,436,113 		JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,363,995...11,408,494
Ensembl chr30:11,364,075...11,408,469 		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:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365 		JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12690208 NCBI chr16:23,469,590...23,496,013 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 chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416 		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 RGD:11535989 NCBI chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655 		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 chr21:36,519,710...36,587,002
Ensembl chr21:36,520,968...36,623,388 		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 chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195 		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 chr10:55,429,989...55,571,917
Ensembl chr10:55,429,940...55,571,916 		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 chr29:16,712,872...16,852,478
Ensembl chr29:16,708,820...16,852,844 		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 chr20:8,441,994...8,453,131
Ensembl chr20:8,442,788...8,453,057 		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 chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296 		JBrowse link
G GNAL G protein subunit alpha L ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:32581362 NCBI chr 7:77,378,134...77,521,215
Ensembl chr 7:77,413,986...77,521,042 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583 		JBrowse link
G KMT2B lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:27992417 PMID:32581362 NCBI chr 1:116,894,024...116,913,464
Ensembl chr 1:116,893,074...116,913,472 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr 7:64,764,941...64,802,507
Ensembl chr 7:64,760,121...64,802,902 		JBrowse link
G PDE8B phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 3:29,289,867...29,432,557
Ensembl chr 3:29,291,549...29,432,542 		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 chr20:52,327,547...52,349,006
Ensembl chr20:52,318,408...52,348,963 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:38,531,547...38,557,472 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:19238550 PMID:20068590 PMID:22750057 PMID:25130614 PMID:27100778 RGD:11532935 RGD:12910971 RGD:12910973 RGD:12910975 RGD:12910976 NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1 ClinVar
OMIM		 PMID:12954984 PMID:23872636 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr30:20,778,497...20,871,304
Ensembl chr30:20,815,775...20,871,220 		JBrowse link
G DRD4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014
G FOXP2 forkhead box P2 no_association ISO DNA:SNPs: :multiple
DNA:SNP: :rs12533005 (human)		 RGD PMID:21897444 RGD:11535997 NCBI chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655 		JBrowse link
G NCAN neurocan ISO ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chr20:43,944,257...43,970,864
Ensembl chr20:43,945,143...43,970,886 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35940320 NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742 		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 chr30:16,745,567...16,800,662
Ensembl chr30:16,745,620...16,797,704 		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 chr 6:36,415,664...36,425,542
Ensembl chr 6:36,415,700...36,425,176 		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 chr 2:10,201,347...10,302,951
Ensembl chr 2:10,202,329...10,302,733 		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 chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		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 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376 		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 IAGP Geleophysic dysplasia, ADMATSL2-related OMIA PMID:20862248 PMID:28158899 NCBI chr 9:49,925,738...49,958,870
Ensembl chr 9:49,925,755...49,958,300 		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 chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393 		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 | ClinVar Annotator: match by term: GAMT-related condition OMIM
ClinVar		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr20:57,440,698...57,442,588 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 chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		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:25741905 PMID:28492532 More... NCBI chr36:6,989,644...6,997,916
Ensembl chr36:6,989,488...6,997,900 		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 chr 9:11,133,634...11,459,738
Ensembl chr 9:11,151,475...11,454,022 		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 chr20:49,407,842...49,424,220
Ensembl chr20:49,407,152...49,424,752 		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:25741909 PMID:29758562 PMID:29770430 PMID:31428396 More... NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780 		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 9:51,994,593...52,004,620 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 chr21:21,341,530...21,409,535
Ensembl chr21:21,265,484...21,408,416 		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 chr26:7,443,828...7,467,348
Ensembl chr26:7,446,267...7,467,429 		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 8:26,353,986...26,365,077
Ensembl chr 8:26,353,871...26,364,914 		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 8:26,364,664...26,411,475
Ensembl chr 8:26,364,838...26,411,424 		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 1:103,057,392...103,070,612
Ensembl chr 1:103,057,542...103,066,887 		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 1:103,054,250...103,057,440
Ensembl chr 1:103,054,433...103,057,430 		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 8:67,622,592...67,713,922
Ensembl chr 8:67,622,708...67,714,404 		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 chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397 		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 chr30:17,835,051...17,876,443
Ensembl chr30:17,837,220...17,881,036 		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 5:19,801,511...19,814,359
Ensembl chr 5:19,801,542...19,814,481 		JBrowse link
G ANKRD17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr13:61,892,872...62,046,625
Ensembl chr13:61,893,951...62,012,404 		JBrowse link
G BCL11A BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Expressive language delay ClinVar NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429 		JBrowse link
G CNTNAP2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 PMID:21082657 PMID:21310003 NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21114665 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G DRD2 dopamine receptor D2 ISO DNA:SNP,haplotype::rs6278(human) RGD PMID:23691092 RGD:401959324 NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241 		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 chr28:38,489,635...38,601,800
Ensembl chr28:38,491,047...38,602,022 		JBrowse link
G ERF ETS2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077 		JBrowse link
G FOXP2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655 		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 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		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 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chr 6:41,405,453...41,415,727
Ensembl chr 6:41,407,070...41,408,823 		JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Language retardation ClinVar NCBI chr18:49,655,783...49,691,899
Ensembl chr18:49,637,610...49,827,034 		JBrowse link
G NRXN1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chr10:51,555,660...52,666,774
Ensembl chr10:51,558,452...52,667,569 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G SETBP1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284256 PMID:17173049 NCBI chr10:16,621,445...16,665,366 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 chr 6:11,447,225...11,478,611
Ensembl chr 6:11,447,081...11,478,658 		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 6:17,114,528...17,125,287
Ensembl chr 6:17,114,528...17,125,203 		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 chr20:41,587,202...41,637,768
Ensembl chr20:41,588,443...41,637,781 		JBrowse link
G KLHL18 kelch like family member 18 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr20:41,532,096...41,587,104
Ensembl chr20:41,533,012...41,587,003 		JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr20:41,485,959...41,511,250
Ensembl chr20:41,485,195...41,587,003 		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 chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612 		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 chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416 		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 chr11:22,388,327...22,410,052
Ensembl chr11:22,385,257...22,410,052 		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 chr12:66,833,776...66,897,500
Ensembl chr12:66,833,995...66,897,483 		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 chr16:19,590,115...19,716,664
Ensembl chr16:19,589,172...19,777,260 		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 9:51,994,593...52,004,620 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 chr21:21,341,530...21,409,535
Ensembl chr21:21,265,484...21,408,416 		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 chr18:42,290,226...42,332,237
Ensembl chr18:42,290,754...42,328,586 		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 1:117,119,454...117,121,087
Ensembl chr 1:117,119,529...117,121,041 		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 CYHR1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624 		JBrowse link
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:25741916 PMID:27431290 PMID:33420346 NCBI chr 5:15,338,279...15,375,722
Ensembl chr 5:15,341,141...15,370,294 		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 chr18:19,924,381...19,952,956
Ensembl chr18:19,924,235...19,951,244 		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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		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 chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429 		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: HECW2-related condition | 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 chr37:5,850,518...6,213,353
Ensembl chr37:5,856,513...6,213,820 		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 9:51,994,593...52,004,620 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: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE OMIM
ClinVar		 PMID:7679508 PMID:9384584 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 3:19,778,997...19,948,203
Ensembl chr 3:19,779,007...19,943,852 		JBrowse link
G MIR9-2 microRNA mir-9-2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE ClinVar PMID:20513142 PMID:27748065 PMID:28492532 NCBI chr 3:19,997,697...19,997,756
Ensembl chr 3:19,997,682...19,997,768 		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:25741915 PMID:28180184 PMID:28492532 PMID:34375587 NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408 		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 ZNF142 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 NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296 		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 chr31:26,058,858...26,440,059
Ensembl chr31:25,932,697...26,202,756 		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 chr15:54,634,332...54,710,711
Ensembl chr15:54,634,335...54,708,184 		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 8:68,610,105...68,644,616
Ensembl chr 8:68,610,090...68,643,467 		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 chr12:72,440,224...72,456,304
Ensembl chr12:72,440,224...72,456,284 		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:25741905 PMID:28492532 PMID:32738225 PMID:32788587 More... NCBI chr 1:18,320,941...18,338,185
Ensembl chr 1:18,321,021...18,337,430 		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:32738225 NCBI chr 1:18,320,941...18,338,185
Ensembl chr 1:18,321,021...18,337,430 		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 chr20:49,435,956...49,439,493
Ensembl chr20:49,435,844...49,439,479 		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:25741916 PMID:30250217 NCBI chr20:49,439,387...49,443,661
Ensembl chr20:49,439,387...49,443,661 		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:25741916 PMID:30250217 NCBI chr20:49,443,893...49,445,342
Ensembl chr20:49,443,951...49,445,330 		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:25741909 PMID:28327206 PMID:28492532 PMID:29100085 More... NCBI chr20:41,102,064...41,131,464
Ensembl chr20:41,102,080...41,129,429 		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 chr12:10,689,268...10,720,945
Ensembl chr12:10,689,289...10,709,532 		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 6:24,558,010...24,594,326
Ensembl chr 6:24,558,142...24,582,728 		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 6:24,607,053...24,615,916
Ensembl chr 6:24,607,123...24,612,661 		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 6:17,224,107...17,246,527
Ensembl chr 6:17,224,694...17,245,870 		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 chr10:25,381,446...25,493,680
Ensembl chr10:25,380,943...25,482,852 		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 condition | ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome OMIM
ClinVar		 PMID:11574463 PMID:24395637 PMID:25363768 PMID:25741868 PMID:27048600 More... NCBI chr24:20,333,593...20,390,341 JBrowse link
G GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 ISO ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome ClinVar PMID:25741868 NCBI chr21:34,370,659...34,708,735
Ensembl chr21:34,370,648...34,708,918 		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:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 More... NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268 		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 chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815 		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 chr10:7,169,664...7,208,890
Ensembl chr10:7,168,007...7,208,899 		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:74,912,223...74,919,327 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:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562 		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:75,035,147...75,112,991
Ensembl chr  X:75,035,141...75,211,971 		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:74,758,399...74,782,470
Ensembl chr  X:74,758,496...74,782,194 		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:75,171,816...75,217,777
Ensembl chr  X:75,171,507...75,212,782 		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:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		JBrowse link
G LOC100687687 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr 4:62,275,030...62,275,422 JBrowse link
G LOC102155800 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr17:52,628,292...52,628,713 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:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698 		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 OMIM
ClinVar		 PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 More... NCBI chr  X:74,513,473...74,536,446
Ensembl chr  X:74,513,774...74,534,910 		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:74,537,937...74,617,580
Ensembl chr  X:74,539,183...74,565,753 		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:75,219,448...75,238,309
Ensembl chr  X:75,220,248...75,239,041 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288 		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:75,020,157...75,033,714
Ensembl chr  X:75,020,238...75,032,525 		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:74,921,406...75,001,373 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:74,854,947...74,872,918
Ensembl chr  X:74,859,659...74,872,259 		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 9:48,610,906...48,630,932
Ensembl chr 9:48,613,996...48,629,857 		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 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		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 chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		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 OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr20:26,810,167...27,131,864
Ensembl chr20:26,809,958...27,220,057 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | 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 WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 ClinVar PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 OMIM
ClinVar		 PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 More... NCBI chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965 		JBrowse link
G LOC119870572 small Cajal body-specific RNA 21 ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr 5:32,712,799...32,714,493
Ensembl chr 5:32,712,805...32,713,600 		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 chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416 		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 chr25:40,148,578...40,159,975
Ensembl chr25:40,148,570...40,159,959 		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 chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO CTD Direct Evidence: marker/mechanism CTD PMID:26005865 NCBI chr15:2,966,433...2,979,030
Ensembl chr15:2,966,461...2,978,968 		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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G TTPA alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553 		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 4:83,915,145...84,873,581
Ensembl chr 4:84,417,872...84,870,827 		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
DNA:missense mutation: :p.P215A (human)		 OMIM
ClinVar
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11536000 NCBI chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655 		JBrowse link
G IMMP2L inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr14:50,487,679...51,336,906 JBrowse link
G LRRN3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr14:50,893,254...50,928,475
Ensembl chr14:50,925,878...50,928,004 		JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr32:32,344,348...32,421,485
Ensembl chr32:32,344,791...32,418,441 		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 chr21:26,348,328...26,371,266
Ensembl chr21:26,348,378...26,370,380 		JBrowse link
G RHOG ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr21:26,371,868...26,373,395
Ensembl chr21:26,372,462...26,373,037 		JBrowse link
G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS OMIM
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375 		JBrowse link
stuttering term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTNAP2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21108403 NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416 		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 chr 2:58,038,456...58,138,364
Ensembl chr 2:58,038,483...58,137,622 		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 chr22:50,483,799...50,554,421
Ensembl chr22:50,485,190...50,555,587 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Neurodevelopmental Disorders 6794
        communication disorder 386
          language disorder 157
            Giacheti Syndrome 0
            Hyperlexia 0
            Language Development Disorders + 64
            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 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 + 5
            dyslexia + 9
            expressive language disorder 0
            nominal aphasia 0
            speech disorder + 81
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            disease of mental health 8067
              developmental disorder of mental health 5495
                specific developmental disorder 4468
                  communication disorder 386
                    language disorder 157
                      Giacheti Syndrome 0
                      Hyperlexia 0
                      Language Development Disorders + 64
                      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 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 + 5
                      dyslexia + 9
                      expressive language disorder 0
                      nominal aphasia 0
                      speech disorder + 81
paths to the root