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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

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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 chrNW_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462 		JBrowse link
G Ankk1 ankyrin repeat and kinase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chrNW_004624784:8,810,409...8,821,732
Ensembl chrNW_004624784:8,810,559...8,820,444 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chrNW_004624784:8,828,589...8,906,617
Ensembl chrNW_004624784:8,827,006...8,865,529 		JBrowse link
G Foxp2 forkhead box P2 ISO associated with Schizophrenia;DNA:SNP: :rs2253478 (human) RGD PMID:20649982 RGD:11535993 NCBI chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Language disorder ClinVar PMID:25741868 PMID:27353043 PMID:28492532 NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077 		JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Language disorder ClinVar PMID:31997314 NCBI chrNW_004624768:1,326,417...1,482,474
Ensembl chrNW_004624768:1,348,377...1,482,158 		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 chrNW_004624731:13,901,347...13,917,051 JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624804:11,514,728...11,521,625 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 chrNW_004624731:13,775,414...13,789,380
Ensembl chrNW_004624731:13,777,656...13,785,366 		JBrowse link
G CUNH15orf48 chromosome unknown C15orf48 homolog ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:13,895,944...13,898,944
Ensembl chrNW_004624731:13,895,942...13,898,889 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:14,080,670...14,107,532
Ensembl chrNW_004624731:14,081,245...14,107,104 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:14,121,855...14,139,344
Ensembl chrNW_004624731:14,122,608...14,138,121 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:14,109,253...14,118,106
Ensembl chrNW_004624731:14,108,924...14,118,239 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:14,118,526...14,121,811
Ensembl chrNW_004624731:14,118,426...14,121,928 		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 OMIM
ClinVar		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chrNW_004624731:13,941,084...13,954,910
Ensembl chrNW_004624731:13,941,049...13,955,461 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624804:11,545,393...11,572,800 JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:14,064,741...14,079,849
Ensembl chrNW_004624731:14,064,741...14,079,957 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:13,999,029...14,051,964
Ensembl chrNW_004624731:13,998,505...14,025,732 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:13,844,005...13,875,515
Ensembl chrNW_004624731:13,844,323...13,875,623 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:14,159,439...14,185,960
Ensembl chrNW_004624731:14,156,522...14,185,989 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624804:11,569,024...11,672,037
Ensembl chrNW_004624804:11,569,150...11,670,373 		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 chrNW_004624731:14,203,324...14,220,899
Ensembl chrNW_004624731:14,203,928...14,221,213 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chrNW_004624731:14,228,511...14,253,128
Ensembl chrNW_004624731:14,224,366...14,252,976 		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 chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12690208 NCBI chrNW_004624780:1,014,429...1,063,636
Ensembl chrNW_004624780:1,028,085...1,063,649 		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 chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678 		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 chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488 		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 chrNW_004624766:5,622,194...5,684,076
Ensembl chrNW_004624766:5,623,625...5,682,464 		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 chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336 		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 chrNW_004624833:6,947,611...7,144,688
Ensembl chrNW_004624833:6,947,273...7,089,924 		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 ARF 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 chrNW_004624744:24,010,609...24,144,474
Ensembl chrNW_004624744:24,011,136...24,143,202 		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 chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012 		JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:32581362 NCBI chrNW_004624770:19,433,614...19,504,759
Ensembl chrNW_004624770:19,433,660...19,504,698 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chrNW_004624743:33,424,705...33,435,767
Ensembl chrNW_004624743:33,423,342...33,435,721 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:27992417 PMID:32581362 NCBI chrNW_004624794:10,023,229...10,046,128
Ensembl chrNW_004624794:10,023,492...10,045,820 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chrNW_004624869:1,695,362...1,936,097
Ensembl chrNW_004624869:1,695,480...1,936,048 		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 chrNW_004624828:643,552...664,665
Ensembl chrNW_004624828:643,471...664,665 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Dysarthria ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249 		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 chrNW_004624756:2,644,287...2,813,908
Ensembl chrNW_004624756:2,644,248...2,809,787 		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:25186273 PMID:25741868 More... NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793 		JBrowse link
G Drd4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014 NCBI chrNW_004624766:21,834,093...21,837,314
Ensembl chrNW_004624766:21,834,169...21,836,710 		JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:SNP: :rs12533005 (human)
DNA:SNPs: :multiple		 RGD PMID:21897444 RGD:11535997 NCBI chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488 		JBrowse link
G Ncan neurocan ISO ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chrNW_004624908:2,102,445...2,125,820 JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35940320 NCBI chrNW_004624751:694,165...720,287
Ensembl chrNW_004624751:694,099...719,465 		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 chrNW_004624731:9,295,151...9,348,394
Ensembl chrNW_004624731:9,298,016...9,348,284 		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 chrNW_004624824:2,828,835...2,838,116
Ensembl chrNW_004624824:2,828,835...2,835,907 		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 chrNW_004624796:5,679,159...5,781,173
Ensembl chrNW_004624796:5,678,701...5,778,443 		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 chrNW_004624824:7,128,169...7,513,360
Ensembl chrNW_004624824:7,137,909...7,507,910 		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 chrNW_004624760:6,331,554...6,388,953
Ensembl chrNW_004624760:6,331,554...6,386,216 		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 chrNW_004624760:1,948,302...1,977,459
Ensembl chrNW_004624760:1,949,907...1,976,894 		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 chrNW_004624752:8,125,472...8,394,809
Ensembl chrNW_004624752:8,137,532...8,336,877 		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 chrNW_004624828:7,294,380...7,297,787
Ensembl chrNW_004624828:7,294,327...7,297,303 		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 chrNW_004624828:7,298,290...7,307,113
Ensembl chrNW_004624828:7,294,327...7,306,814 		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 chrNW_004624732:4,043,867...4,052,621
Ensembl chrNW_004624732:4,043,867...4,052,551 		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 chrNW_004624849:452,848...946,511
Ensembl chrNW_004624849:452,884...940,686 		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 chrNW_004624901:334,277...351,653
Ensembl chrNW_004624901:334,154...352,060 		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 chrNW_004624732:9,572,160...9,589,624
Ensembl chrNW_004624732:9,581,779...9,589,942 		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 chrNW_004624760:4,016,441...4,067,325
Ensembl chrNW_004624760:4,016,441...4,067,126 		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 chrNW_004624863:442,465...609,159
Ensembl chrNW_004624863:439,541...525,918 		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 chrNW_004624747:22,184,371...22,206,692
Ensembl chrNW_004624747:22,184,443...22,204,395 		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 chrNW_004624731:18,935,841...18,973,879
Ensembl chrNW_004624731:18,962,888...18,974,096 		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 chrNW_004624731:18,917,097...18,963,490
Ensembl chrNW_004624731:18,917,191...18,961,764 		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 chrNW_004624832:2,429,809...2,441,886
Ensembl chrNW_004624832:2,429,809...2,441,869 		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 chrNW_004624832:2,425,418...2,429,851
Ensembl chrNW_004624832:2,425,302...2,429,851 		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 chrNW_004624734:4,560,362...4,649,219
Ensembl chrNW_004624734:4,560,699...4,647,858 		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 chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131 		JBrowse link
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia ClinVar
OMIM		 PMID:25741868 PMID:27523599 PMID:27677260 PMID:29368331 PMID:30631341 More... NCBI chrNW_004624731:8,355,045...8,396,343
Ensembl chrNW_004624731:8,373,724...8,397,264 		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 chrNW_004624784:8,810,409...8,821,732
Ensembl chrNW_004624784:8,810,559...8,820,444 		JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chrNW_004624735:34,337,722...34,516,891
Ensembl chrNW_004624735:34,337,835...34,519,559 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Expressive language delay ClinVar NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 PMID:21082657 PMID:21310003 NCBI chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678 		JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:SNP,haplotype::rs6278(human) RGD PMID:23691092 RGD:401959324 NCBI chrNW_004624784:8,828,589...8,906,617
Ensembl chrNW_004624784:8,827,006...8,865,529 		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 chrNW_004624737:17,069,676...17,201,481
Ensembl chrNW_004624737:17,078,683...17,201,536 		JBrowse link
G Erf ETS2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chrNW_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488 		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 chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433 		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 chrNW_004624760:777,208...800,525
Ensembl chrNW_004624760:776,873...801,354 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chrNW_004624824:7,128,169...7,513,360
Ensembl chrNW_004624824:7,137,909...7,507,910 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chrNW_004624772:6,298,113...6,311,614
Ensembl chrNW_004624772:6,305,550...6,309,906 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Language retardation ClinVar NCBI chrNW_004624767:18,654,682...18,716,087
Ensembl chrNW_004624767:18,655,193...18,716,252 		JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chrNW_004624738:31,134,551...32,273,596
Ensembl chrNW_004624738:31,133,346...32,273,565 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815 		JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284256 PMID:17173049 NCBI chrNW_004624752:72,545...127,321
Ensembl chrNW_004624752:72,615...127,325 		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 chrNW_004624740:31,223,583...31,306,749
Ensembl chrNW_004624740:31,274,483...31,306,430 		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 chrNW_004624782:14,157,905...14,169,231
Ensembl chrNW_004624782:14,157,823...14,169,231 		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 chrNW_004624730:74,075,530...74,118,164
Ensembl chrNW_004624730:74,075,752...74,118,164 		JBrowse link
G Klhl18 kelch like family member 18 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chrNW_004624730:74,023,726...74,075,478
Ensembl chrNW_004624730:74,022,684...74,075,393 		JBrowse link
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chrNW_004624730:73,975,490...74,004,454
Ensembl chrNW_004624730:73,975,655...74,004,572 		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 chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200 		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 chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678 		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 chrNW_004624733:38,012,694...38,033,745
Ensembl chrNW_004624733:38,012,392...38,036,914 		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 chrNW_004624916:1,183,291...1,301,925
Ensembl chrNW_004624916:1,181,234...1,201,975 		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 chrNW_004624800:1,276,697...1,366,547
Ensembl chrNW_004624800:1,274,825...1,366,553 		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 chrNW_004624760:4,016,441...4,067,325
Ensembl chrNW_004624760:4,016,441...4,067,126 		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 chrNW_004624863:442,465...609,159
Ensembl chrNW_004624863:439,541...525,918 		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 chrNW_004624767:1,421,603...1,459,738
Ensembl chrNW_004624767:1,421,603...1,459,507 		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 chrNW_004624794:8,062,000...8,063,886
Ensembl chrNW_004624794:8,061,011...8,065,729 		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 ClinVar
OMIM		 PMID:25741868 PMID:27431290 PMID:33420346 NCBI chrNW_004624784:13,754,234...13,792,616 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 chrNW_004624735:12,394,710...12,411,520
Ensembl chrNW_004624735:12,394,710...12,408,851 		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 Sirt4 sirtuin 4 ISO ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38821540 PMID:38859706 NCBI chrNW_004624747:13,329,662...13,352,151
Ensembl chrNW_004624747:13,335,442...13,352,201 		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 chrNW_004624739:28,995,173...29,074,354
Ensembl chrNW_004624739:28,995,179...29,073,813 		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 chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643 		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 chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896 		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 chrNW_004624889:2,883,639...3,126,011
Ensembl chrNW_004624889:2,883,624...3,124,709 		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 chrNW_004624854:475,098...831,202
Ensembl chrNW_004624854:618,262...824,178 		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 chrNW_004624760:4,016,441...4,067,325
Ensembl chrNW_004624760:4,016,441...4,067,126 		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 chrNW_004624743:8,072,871...8,235,174
Ensembl chrNW_004624743:8,072,673...8,235,252 		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 ClinVar
OMIM		 PMID:25741868 PMID:28180184 PMID:28492532 PMID:34375587 NCBI chrNW_004624810:2,731,573...3,407,186
Ensembl chrNW_004624810:2,733,118...3,401,909 		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 More... NCBI chrNW_004624823:6,397,211...6,417,671 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 chrNW_004624745:19,563,166...19,941,511
Ensembl chrNW_004624745:19,561,195...19,760,095 		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 chrNW_004624754:25,425,208...25,452,600
Ensembl chrNW_004624754:25,425,055...25,455,656 		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 chrNW_004624848:1,132,939...1,261,110
Ensembl chrNW_004624848:1,135,032...1,261,087 		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 chrNW_004624767:13,010,512...13,049,507
Ensembl chrNW_004624767:13,012,149...13,048,808 		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 chrNW_004624734:3,777,866...3,815,369
Ensembl chrNW_004624734:3,782,733...3,817,852 		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 OMIM
ClinVar		 PMID:32129449 NCBI chrNW_004624850:6,339,918...6,357,925
Ensembl chrNW_004624850:6,337,094...6,357,997 		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 chrNW_004624792:3,109,779...3,128,949
Ensembl chrNW_004624792:3,109,779...3,128,957 		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 chrNW_004624792:3,109,779...3,128,949
Ensembl chrNW_004624792:3,109,779...3,128,957 		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 chrNW_004624901:315,096...319,411
Ensembl chrNW_004624901:315,096...319,380 		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 chrNW_004624901:310,709...315,302
Ensembl chrNW_004624901:310,709...315,054 		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 chrNW_004624901:309,058...310,663
Ensembl chrNW_004624901:309,058...310,686 		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 chrNW_004624730:73,656,378...73,685,863
Ensembl chrNW_004624730:73,656,361...73,681,999 		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 chrNW_004624754:17,136,791...17,147,991
Ensembl chrNW_004624754:17,135,101...17,147,982 		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 chrNW_004624782:6,930,461...6,958,867
Ensembl chrNW_004624782:6,930,505...6,959,069 		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 chrNW_004624782:6,865,996...6,893,616 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 chrNW_004624782:14,030,425...14,053,679 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 chrNW_004624752:8,702,320...8,795,192
Ensembl chrNW_004624752:8,705,149...8,785,272 		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 chrNW_004624741:1,566,380...1,635,365 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 chrNW_004624795:704,066...708,721
Ensembl chrNW_004624795:704,252...707,165 		JBrowse link
G Prnp prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chrNW_004624741:5,785,139...5,802,162
Ensembl chrNW_004624741:5,785,158...5,802,162 		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 chrNW_004624802:3,861,821...3,914,061
Ensembl chrNW_004624802:3,862,709...3,914,028 		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 Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171 		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 chrNW_004624902:1,391,144...1,500,323
Ensembl chrNW_004624814:8,820,811...8,823,072 		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 chrNW_004624902:1,755,308...1,780,826 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 chrNW_004624902:1,270,925...1,313,122
Ensembl chrNW_004624902:1,270,959...1,313,097 		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 chrNW_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177 		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 chrNW_004624902:1,741,921...1,754,932
Ensembl chrNW_004624902:1,736,704...1,755,504 		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 chrNW_004624902:2,354,109...2,502,478
Ensembl chrNW_004624902:2,354,856...2,502,527 		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:21053371 PMID:22091964 PMID:23352160 More... NCBI chrNW_004624902:1,944,073...1,967,106
Ensembl chrNW_004624902:1,944,019...1,964,983 		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 chrNW_004624902:1,876,608...1,945,728
Ensembl chrNW_004624902:1,876,516...1,942,265 		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 chrNW_004624902:1,239,776...1,267,443
Ensembl chrNW_004624902:1,243,817...1,256,209 		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 chrNW_004624902:1,216,991...1,223,426 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 chrNW_004624902:1,501,186...1,513,036
Ensembl chrNW_004624902:1,500,874...1,513,127 		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 chrNW_004624902:2,019,649...2,038,203
Ensembl chrNW_004624902:2,019,185...2,038,311 		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 chrNW_004624902:1,977,700...1,985,004
Ensembl chrNW_004624902:1,978,467...1,986,303 		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 chrNW_004624902:1,677,588...1,694,988
Ensembl chrNW_004624902:1,678,615...1,696,820 		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 chrNW_004624849:2,320,887...2,421,099 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 chrNW_004624760:880,216...898,753
Ensembl chrNW_004624760:880,148...898,751 		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 chrNW_004624768:16,427,060...16,493,850 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 chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792 		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 chrNW_004624768:16,493,123...16,509,747
Ensembl chrNW_004624768:16,491,555...16,509,900 		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 chrNW_004624888:1,537,080...1,825,955
Ensembl chrNW_004624888:1,537,138...1,821,215 		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 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		 ClinVar PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chrNW_004624831:592,475...597,388 JBrowse link
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chrNW_004624786:10,436,970...10,437,882
Ensembl chrNW_004624786:10,436,970...10,437,890 		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 chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678 		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 chrNW_004624843:1,665,110...1,677,556
Ensembl chrNW_004624843:1,663,426...1,677,556 		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 chrNW_004624824:7,128,169...7,513,360
Ensembl chrNW_004624824:7,137,909...7,507,910 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO CTD Direct Evidence: marker/mechanism CTD PMID:26005865 NCBI chrNW_004624764:22,422,520...22,435,332
Ensembl chrNW_004624764:22,422,423...22,435,416 		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 chrNW_004624844:484,593...760,155 JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chrNW_004624744:28,713,596...28,738,435
Ensembl chrNW_004624744:28,713,320...28,739,539 		JBrowse link
speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: :p.P215A (human)		 OMIM
ClinVar
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11536000 NCBI chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chrNW_004624739:18,264,690...19,194,634
Ensembl chrNW_004624739:18,323,816...19,194,466 		JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chrNW_004624739:18,733,055...18,772,468
Ensembl chrNW_004624739:18,735,922...18,772,465 		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 chrNW_004624817:5,245,707...5,269,056
Ensembl chrNW_004624817:5,245,713...5,269,056 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chrNW_004624817:5,269,691...5,281,160
Ensembl chrNW_004624817:5,269,691...5,281,101 		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 chrNW_004624817:5,291,111...5,522,732
Ensembl chrNW_004624817:5,291,717...5,522,864 		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 chrNW_004624731:9,295,151...9,348,394
Ensembl chrNW_004624731:9,298,016...9,348,284 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21108403 NCBI chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678 		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 chrNW_004624746:27,659,424...27,757,024
Ensembl chrNW_004624746:27,676,325...27,756,754 		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 chrNW_004624746:27,756,934...27,762,194
Ensembl chrNW_004624746:27,758,683...27,762,179 		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 chrNW_004624793:10,587,703...10,640,634
Ensembl chrNW_004624793:10,588,037...10,641,260 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14166
    Developmental Disease 12411
      Neurodevelopmental Disorders 6240
        communication disorder 367
          language disorder 155
            Giacheti Syndrome 0
            Hyperlexia 0
            Language Development Disorders + 61
            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 + 78
Path 2
Term Annotations click to browse term
  disease 14166
    disease of anatomical entity 13879
      nervous system disease 12188
        central nervous system disease 10962
          brain disease 10283
            disease of mental health 7359
              developmental disorder of mental health 5032
                specific developmental disorder 4159
                  communication disorder 367
                    language disorder 155
                      Giacheti Syndrome 0
                      Hyperlexia 0
                      Language Development Disorders + 61
                      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 + 78
paths to the root