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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 IAGP ClinVar Annotator: match by term: Language disorder ClinVar NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G ANKK1 ankyrin repeat and kinase domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chr11:113,387,779...113,400,416
Ensembl chr11:113,387,779...113,400,416 		JBrowse link
G DRD2 dopamine receptor D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23691092 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G FOXP2 forkhead box P2 IAGP associated with Schizophrenia;DNA:SNP: :rs2253478 (human) RGD PMID:20649982 RGD:11535993 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Language disorder ClinVar PMID:25741868 PMID:27353043 PMID:28492532 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G OTUD7A OTU deubiquitinase 7A IAGP ClinVar Annotator: match by term: Language disorder ClinVar PMID:31997314 NCBI chr15:31,475,398...31,870,673
Ensembl chr15:31,475,398...31,870,789 		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 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945 		JBrowse link
G C15orf48 chromosome 15 open reading frame 48 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,430,610...45,433,340
Ensembl chr15:45,430,579...45,448,761 		JBrowse link
G DUOX1 dual oxidase 1 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,129,994...45,165,574
Ensembl chr15:45,129,933...45,165,576 		JBrowse link
G DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G DUOXA1 dual oxidase maturation factor 1 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,117,366...45,129,879
Ensembl chr15:45,117,366...45,129,938 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G GATM glycine amidinotransferase IAGP
EXP		 ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G LOC121847946 Sharpr-MPRA regulatory region 12640 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,031,271...45,031,565 JBrowse link
G LOC129390694 MPRA-validated peak2324 silencer IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,980,078...44,980,278 JBrowse link
G LOC130056979 ATAC-STARR-seq lymphoblastoid active region 9348 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,004,136...45,004,185 JBrowse link
G LOC130056980 ATAC-STARR-seq lymphoblastoid silent region 6399 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,022,975...45,023,144 JBrowse link
G LOC130056981 ATAC-STARR-seq lymphoblastoid active region 9349 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,117,969...45,118,168 JBrowse link
G LOC130056982 ATAC-STARR-seq lymphoblastoid silent region 6400 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,166,632...45,167,431 JBrowse link
G LOC130056983 ATAC-STARR-seq lymphoblastoid active region 9350 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,167,632...45,167,721 JBrowse link
G LOC130056984 ATAC-STARR-seq lymphoblastoid silent region 6401 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,187,861...45,187,910 JBrowse link
G LOC130056985 ATAC-STARR-seq lymphoblastoid silent region 6402 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,198,536...45,198,655 JBrowse link
G LOC130056986 ATAC-STARR-seq lymphoblastoid active region 9351 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,198,736...45,199,085 JBrowse link
G LOC130056987 ATAC-STARR-seq lymphoblastoid active region 9352 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,199,646...45,199,805 JBrowse link
G LOC130056988 ATAC-STARR-seq lymphoblastoid silent region 6403 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,200,306...45,200,585 JBrowse link
G LOC130056989 ATAC-STARR-seq lymphoblastoid active region 9354 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,278,950...45,279,119 JBrowse link
G LOC130056990 ATAC-STARR-seq lymphoblastoid active region 9355 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,279,460...45,279,639 JBrowse link
G LOC130056991 ATAC-STARR-seq lymphoblastoid silent region 6406 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:9536098 PMID:11555793 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr15:45,378,343...45,378,672 JBrowse link
G PATL2 PAT1 homolog 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
G SHF Src homology 2 domain containing F IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,167,214...45,201,116
Ensembl chr15:45,167,214...45,201,175 		JBrowse link
G SLC28A2 solute carrier family 28 member 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,252,234...45,277,846
Ensembl chr15:45,252,234...45,277,846 		JBrowse link
G SLC28A2-AS1 SLC28A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,251,581...45,279,222
Ensembl chr15:45,235,930...45,279,251 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,479,606...45,522,755
Ensembl chr15:45,479,606...45,522,755 		JBrowse link
G SORD sorbitol dehydrogenase IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,023,195...45,077,185
Ensembl chr15:45,023,147...45,077,185 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TRH-GTG1-7 tRNA-His (anticodon GTG) 1-7 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,198,606...45,198,677 JBrowse link
G TRH-GTG1-8 tRNA-His (anticodon GTG) 1-8 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,200,413...45,200,484 JBrowse link
G TRH-GTG1-9 tRNA-His (anticodon GTG) 1-9 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:45,201,151...45,201,222 JBrowse link
G TRIM69 tripartite motif containing 69 IAGP ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr15:44,736,528...44,767,827
Ensembl chr15:44,728,988...44,767,829 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7920660 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: therapeutic CTD PMID:12690208 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		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 IAGP DNA:SNPs,haplotype: :rs253897(human) RGD PMID:25895914 RGD:11529633 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G FOXP2 forkhead box P2 no_association IAGP DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human)
DNA:SNPs::rs923875, rs17137124, rs1456031 (human)		 RGD PMID:20923434 PMID:20923434 RGD:11535989, RGD:11535989 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		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 IAGP ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder
ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346 		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 IAGP ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language
ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition		 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:28135719 PMID:28492532 PMID:35395208 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		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 IAGP 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 chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SPTBN1-AS2 SPTBN1 antisense RNA 2 IAGP ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 2:54,664,172...54,680,045 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 IAGP ClinVar Annotator: match by term: ARFGEF1-related condition | ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:34113008 NCBI chr 8:67,173,511...67,343,781
Ensembl chr 8:67,173,511...67,343,781 		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 IAGP ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities OMIM
ClinVar		 PMID:25741868 PMID:35047857 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ARPC4-TTLL3 ARPC4-TTLL3 readthrough IAGP ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities ClinVar PMID:25741868 PMID:35047857 NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401 		JBrowse link
Dysarthria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V IAGP RGD PMID:15026880 RGD:1580361 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G GNAL G protein subunit alpha L IAGP ClinVar Annotator: match by term: Dysarthria ClinVar PMID:32581362 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25741868 PMID:27992417 PMID:32581362 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G PDE8B phosphodiesterase 8B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: Dysarthria ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Dysarthria ClinVar PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 PMID:18200586 More... NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Dysarthria ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		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 IAGP
ISO		 DNA:snps:multiple (human)
DNA:deletion, snps:introns:multiple (human)
DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228)
DNA:snp:intron:c.760-430G>A (human) (rs807724)		 RGD PMID:22750057 PMID:25130614 PMID:19238550 PMID:20068590 PMID:27100778 RGD:12910971, RGD:12910976, RGD:12910975, RGD:12910973, RGD:11532935 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12954984 PMID:23872636 PMID:24033266 PMID:25186273 PMID:25741868 More... NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF4-CCPG1 DNAAF4-CCPG1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1 ClinVar PMID:12954984 PMID:23872636 PMID:24033266 PMID:25186273 PMID:25741868 More... NCBI chr15:55,355,223...55,498,584
Ensembl chr15:55,355,248...55,498,360 		JBrowse link
G DRD4 dopamine receptor D4 IAGP DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706 		JBrowse link
G FOXP2 forkhead box P2 no_association IAGP DNA:SNP: :rs12533005 (human)
DNA:SNPs: :multiple		 RGD PMID:21897444 PMID:21897444 RGD:11535997, RGD:11535997 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G NCAN neurocan IAGP ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chr19:19,211,958...19,252,233
Ensembl chr19:19,211,958...19,252,233 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35940320 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		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 IAGP 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 chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		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 IAGP ClinVar Annotator: match by term: Stuttering, familial persistent, 2 ClinVar PMID:20147709 PMID:21956109 PMID:25741868 NCBI chr16:5,024,844...5,033,935
Ensembl chr16:5,024,844...5,034,141 		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 IAGP ClinVar Annotator: match by term: Stuttering, familial persistent, 4 ClinVar NCBI chr10:22,928,053...23,038,523
Ensembl chr10:22,928,024...23,038,523 		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 IAGP 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		 ClinVar
OMIM		 PMID:7574460 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO Geleophysic dysplasia, ADMATSL2-related OMIA PMID:20862248 PMID:28158899 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B IAGP 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 chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition
OMIM:612736
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570 		JBrowse link
G LOC130062945 ATAC-STARR-seq lymphoblastoid silent region 9707 IAGP ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition		 ClinVar PMID:9536098 PMID:15108290 PMID:15651030 PMID:16855203 PMID:17101918 More... NCBI chr19:1,401,280...1,401,859 JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		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 LOC129935026 ATAC-STARR-seq lymphoblastoid silent region 12060 IAGP ClinVar Annotator: match by term: Autism, susceptibility to, 5 ClinVar NCBI chr 2:161,423,695...161,423,804 JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP ClinVar Annotator: match by term: Autism, susceptibility to, 5
ClinVar Annotator: match by term: AUTS5 | ClinVar Annotator: match by term: Autism, susceptibility to, 5		 OMIM
ClinVar		 PMID:11353400 PMID:25232744 PMID:25741868 PMID:28492532 PMID:30250039 More... NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870 		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 LOC105371856 uncharacterized LOC105371856 IAGP 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		 ClinVar PMID:25741868 PMID:28492532 PMID:30021165 PMID:31616000 PMID:36474027 NCBI chr17:63,381,231...63,414,430 JBrowse link
G TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 IAGP 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
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
OMIM		 PMID:23033978 PMID:25741868 PMID:28492532 PMID:28754924 PMID:30021165 More... NCBI chr17:62,966,235...63,427,703
Ensembl chr17:62,966,235...63,427,703 		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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
ClinVar Annotator: match by term: TNPO2-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:34314705 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism ClinVar
OMIM		 PMID:25741868 PMID:29758562 PMID:29770430 PMID:31428396 PMID:31922365 More... NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay ClinVar PMID:25741868 NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 IAGP 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: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders		 OMIM
ClinVar		 PMID:10975528 PMID:25741868 PMID:28492532 PMID:30290153 PMID:31504246 More... NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635 		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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-related condition
ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-associated disorder		 OMIM
ClinVar		 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More... NCBI chr12:121,790,155...121,832,656
Ensembl chr12:121,804,009...121,832,656 		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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy ClinVar PMID:25741868 NCBI chr14:49,768,153...49,786,385
Ensembl chr14:49,768,130...49,786,385 		JBrowse link
G NEMF nuclear export mediator factor IAGP 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 chr14:49,782,083...49,852,788
Ensembl chr14:49,782,083...49,852,821 		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 IAGP 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 chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681 		JBrowse link
G LENG1 leukocyte receptor cluster member 1 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:29758562 NCBI chr19:54,155,161...54,159,721
Ensembl chr19:54,155,161...54,159,721 		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 IAGP 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 chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		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 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome
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
ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome		 ClinVar
OMIM		 PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 More... NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G LOC110120812 VISTA enhancer hs965 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome ClinVar PMID:24214399 NCBI chr 3:71,050,006...71,051,700 JBrowse link
G LOC110120986 VISTA enhancer hs1092 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome ClinVar PMID:24214399 NCBI chr 3:71,104,405...71,105,902 JBrowse link
G LOC121009679 Sharpr-MPRA regulatory region 11865 IAGP ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features ClinVar NCBI chr 3:71,583,918...71,584,212 JBrowse link
G LOC126806714 BRD4-independent group 4 enhancer GRCh37_chr3:71025197-71026396 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome
ClinVar Annotator: match by term: FOXP1-related condition		 ClinVar PMID:25363768 PMID:25741868 PMID:27824329 PMID:28492532 PMID:28735298 More... NCBI chr 3:70,976,046...70,977,245 JBrowse link
G LOC129937017 ATAC-STARR-seq lymphoblastoid active region 20059 IAGP ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome ClinVar PMID:24214399 NCBI chr 3:71,087,844...71,087,943 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 IAGP 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 chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392 		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 IAGP DNA:SNPs,haplotype::rs11604671, rs2734849,rs1800497(human) RGD PMID:23691092 RGD:401959324 NCBI chr11:113,387,779...113,400,416
Ensembl chr11:113,387,779...113,400,416 		JBrowse link
G ANKRD17 ankyrin repeat domain 17 IAGP ClinVar Annotator: match by term: Speech delay ClinVar PMID:25741868 NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798 		JBrowse link
G BCL11A BCL11 transcription factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Expressive language delay ClinVar NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CNTNAP2 contactin associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20157312 PMID:21082657 PMID:21310003 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21114665 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DRD2 dopamine receptor D2 IAGP DNA:SNP,haplotype::rs6278(human) RGD PMID:23691092 RGD:401959324 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G ERF ETS2 repressor factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G FOXP2 forkhead box P2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Expressive language delay ClinVar PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25751627 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KMT5B lysine methyltransferase 5B IAGP ClinVar Annotator: match by term: Language retardation ClinVar NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852 		JBrowse link
G NRXN1 neurexin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20157312 NCBI chr 2:49,918,503...51,032,132
Ensembl chr 2:49,918,503...51,225,575 		JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SETBP1 SET binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25217958 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16284256 PMID:17173049 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		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 IAGP ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
ClinVar Annotator: match by term: EIF2AK1-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:32197074 NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175 		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 IAGP ClinVar Annotator: match by term: Li-Ghorbani-Weisz-Hubshman syndrome OMIM
ClinVar		 PMID:25741868 PMID:31794431 NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393 		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 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,227,998...47,282,799
Ensembl chr 3:47,227,998...47,283,451 		JBrowse link
G KIF9-AS1 KIF9 antisense RNA 1 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar NCBI chr 3:47,164,370...47,244,116
Ensembl chr 3:47,164,186...47,246,601 		JBrowse link
G KLHL18 kelch like family member 18 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,282,944...47,346,816
Ensembl chr 3:47,282,917...47,346,816 		JBrowse link
G LOC129936664 ATAC-STARR-seq lymphoblastoid silent region 14305 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar NCBI chr 3:47,163,406...47,163,715 JBrowse link
G LOC129936665 ATAC-STARR-seq lymphoblastoid silent region 14306 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:20864444 PMID:23160955 PMID:25741868 PMID:26084711 PMID:26580448 More... NCBI chr 3:47,163,766...47,164,515 JBrowse link
G LOC129936666 ATAC-STARR-seq lymphoblastoid silent region 14307 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar NCBI chr 3:47,164,566...47,164,615 JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,435 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Luscan-Lumish syndrome
ClinVar Annotator: match by term: Luscan-lumish syndrome		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		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 IAGP DNA:SNP,haplotype: :rs2710102,rs6944808(human) RGD PMID:21193173 RGD:13450911 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		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 IAGP 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 chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures
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: Neurodevelopmental disorder with absent language and variable seizures | ClinVar Annotator: match by term: WASF1-related neurodevelopmental disorder		 OMIM
ClinVar		 PMID:25741868 PMID:29961568 PMID:32581362 PMID:34356165 PMID:34845217 NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:36401616 NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370 		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 IAGP 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 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia ClinVar PMID:25741868 NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635 		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 IAGP 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 chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		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 IAGP 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 chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TMEM147-AS1 TMEM147 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly ClinVar PMID:25741868 PMID:28492532 PMID:36044892 NCBI chr19:35,540,738...35,546,029
Ensembl chr19:35,540,738...35,546,029 		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 TMEM276-ZFTRAF1 TMEM276-ZFTRAF1 readthrough IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chr 8:144,449,582...144,465,701
Ensembl chr 8:144,449,582...144,465,430 		JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar
OMIM		 PMID:25741868 PMID:27431290 PMID:33420346 NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,600...118,399,211 		JBrowse link
G ZFTRAF1 zinc finger TRAF-type containing 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay ClinVar NCBI chr 8:144,449,582...144,462,871
Ensembl chr 8:144,449,582...144,462,871 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNU4-2 RNA, U4 small nuclear 2 IAGP ClinVar Annotator: match by term: ReNU SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:38821540 PMID:38859706 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903 		JBrowse link
G SIRT4 sirtuin 4 IAGP ClinVar Annotator: match by term: ReNU SYNDROME ClinVar PMID:25741868 PMID:38821540 PMID:38859706 NCBI chr12:120,291,780...120,313,249
Ensembl chr12:120,302,316...120,313,249 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities ClinVar
OMIM		 PMID:25741868 PMID:28135719 PMID:28492532 PMID:33473207 PMID:34819662 NCBI chr 7:80,134,831...80,226,181
Ensembl chr 7:79,768,028...80,226,181 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ClinVar NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP 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 chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:25633834 PMID:25741868 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200 		JBrowse link
G LOC126862864 MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ClinVar NCBI chr19:13,260,738...13,261,937 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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr 2:196,967,014...197,310,780
Ensembl chr 2:196,967,017...197,311,173 		JBrowse link
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language
ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language		 ClinVar
OMIM		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684 		JBrowse link
G NTNG2 netrin G2 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		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 LOC129994183 ATAC-STARR-seq lymphoblastoid active region 22763 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE ClinVar PMID:25741868 NCBI chr 5:88,819,676...88,819,725 JBrowse link
G LOC129994184 ATAC-STARR-seq lymphoblastoid active region 22764 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE ClinVar PMID:25741868 NCBI chr 5:88,821,492...88,821,591 JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE
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
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		 ClinVar
OMIM		 PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 More... NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MEF2C-AS2 MEF2C antisense RNA 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE
ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations
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		 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 5:88,676,218...88,722,831
Ensembl chr 5:88,676,014...88,779,088 		JBrowse link
G MIR9-2 microRNA 9-2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE ClinVar PMID:20513142 PMID:27748065 PMID:28492532 NCBI chr 5:88,666,853...88,666,939
Ensembl chr 5:88,666,853...88,666,939 		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 IAGP 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 chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements OMIM
ClinVar		 PMID:25741868 PMID:30389958 PMID:31036918 PMID:35616059 PMID:35618198 More... NCBI chr 2:218,633,329...218,659,623
Ensembl chr 2:218,633,329...218,659,655 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures OMIM
ClinVar		 PMID:25741868 PMID:35240055 NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and variable cognitive abnormalities ClinVar
OMIM		 PMID:25741868 PMID:36103875 NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31300657 NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder OMIM
ClinVar		 PMID:35979925 NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610 		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 IAGP 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 chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language ClinVar
OMIM		 PMID:32129449 NCBI chr 6:170,535,120...170,553,307
Ensembl chr 6:170,535,120...170,553,307 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:32165824 PMID:32738225 PMID:32788587 More... NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32165824 PMID:32738225 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213 		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 IAGP ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment OMIM
ClinVar		 PMID:25741868 PMID:30661771 NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880 		JBrowse link
G LOC112543448 CRISPRi-FlowFISH-validated WDR83OS regulatory elements IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment
ClinVar Annotator: match by term: DHPS-related condition		 ClinVar PMID:25741868 PMID:30661771 NCBI chr19:12,681,111...12,682,577 JBrowse link
G WDR83 WD repeat domain 83 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:12,666,807...12,675,832
Ensembl chr19:12,666,802...12,675,832 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment ClinVar PMID:25741868 PMID:30250217 NCBI chr19:12,668,073...12,669,415
Ensembl chr19:12,668,073...12,669,415 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent language OMIM
ClinVar		 PMID:25741868 PMID:28327206 PMID:28492532 PMID:29100085 PMID:32581362 More... NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy ClinVar
OMIM		 PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 6:42,050,524...42,087,462
Ensembl chr 6:42,050,513...42,087,461 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies ClinVar PMID:25741868 PMID:30237576 PMID:35196516 NCBI chr16:20,674,405...20,797,581
Ensembl chr16:20,610,243...20,797,581 		JBrowse link
G THUMPD1 THUMP domain containing 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies ClinVar
OMIM		 PMID:25741868 PMID:30237576 PMID:35196516 NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084 		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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies
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 chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664 		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 IAGP 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 chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		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 IAGP ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome
ClinVar Annotator: match by term: CSNK2A1- Related Disorders | ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome		 ClinVar
OMIM		 PMID:11574463 PMID:24395637 PMID:25363768 PMID:25741868 PMID:27048600 More... NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835 		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 IAGP ClinVar Annotator: match by term: Primary progressive aphasia
ClinVar Annotator: match by term: APHASIA, PRIMARY PROGRESSIVE
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 chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G LOC125177489 Sharpr-MPRA regulatory region 15390 IAGP ClinVar Annotator: match by term: Primary progressive aphasia
ClinVar Annotator: match by term: APHASIA, PRIMARY PROGRESSIVE		 ClinVar PMID:6497355 PMID:17202431 PMID:17439980 PMID:17522386 PMID:18183624 More... NCBI chr17:44,350,781...44,351,075 JBrowse link
G PRNP prion protein (Kanno blood group) IAGP ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		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 IAGP ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		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 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,969,708...100,990,831
Ensembl chr  X:100,969,708...100,990,831 		JBrowse link
G BTK Bruton tyrosine kinase IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G CENPI centromere protein I IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,098,204...101,181,859
Ensembl chr  X:101,098,188...101,166,126 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,820,391...100,841,520
Ensembl chr  X:100,820,391...100,841,520 		JBrowse link
G DRP2 dystrophin related protein 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,219,786...101,264,502
Ensembl chr  X:101,219,769...101,264,502 		JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G LOC121627976 Sharpr-MPRA regulatory region 6756 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,647,192...100,647,486 JBrowse link
G LOC125467769 Sharpr-MPRA regulatory region 14263 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,649,852...100,650,146 JBrowse link
G NOX1 NADPH oxidase 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359 		JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G RPL36A ribosomal protein L36a IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,391,011...101,396,155
Ensembl chr  X:101,390,824...101,396,155 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP
EXP		 ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16497722 PMID:18718938 PMID:21053371 PMID:22091964 PMID:23352160 More... NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G SYTL4 synaptotagmin like 4 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,674,491...100,732,121
Ensembl chr  X:100,671,783...100,732,123 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,268,257...101,293,083
Ensembl chr  X:101,268,253...101,293,057 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TMEM35A transmembrane protein 35A IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,078,879...101,096,367
Ensembl chr  X:101,078,879...101,096,367 		JBrowse link
G TNMD tenomodulin IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:100,584,936...100,599,885
Ensembl chr  X:100,584,936...100,599,885 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,973,366...101,052,111
Ensembl chr  X:101,009,346...101,052,116 		JBrowse link
G TSPAN6 tetraspanin 6 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:100,627,108...100,637,104
Ensembl chr  X:100,627,108...100,639,991 		JBrowse link
G XKRX XK related X-linked IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,886,916...100,959,343
Ensembl chr  X:100,913,445...100,929,433 		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 IAGP ClinVar Annotator: match by term: Semantic dementia ClinVar PMID:25741868 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		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 IAGP ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915 		JBrowse link
G FANCI FA complementation group I IAGP 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 chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP
EXP		 DNA:missense mutations:cds:
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: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)		 ClinVar
CTD
OMIM
RGD		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... RGD:8694282, RGD:8694285 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLGARF POLG alternative reading frame IAGP ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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:11431686 PMID:12565911 PMID:14635118 PMID:14694057 PMID:14745080 More... NCBI chr15:89,330,208...89,333,809
Ensembl chr15:89,330,208...89,333,809 		JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 IAGP ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:21276947 PMID:25326635 PMID:25741868 PMID:26942291 PMID:26942292 NCBI chr 3:64,092,236...64,268,173
Ensembl chr 3:64,092,236...64,445,476 		JBrowse link
G PRICKLE2-AS1 PRICKLE2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:21276947 PMID:25326635 PMID:25741868 PMID:26942291 PMID:26942292 NCBI chr 3:64,067,964...64,103,131
Ensembl chr 3:64,067,964...64,103,131
Ensembl chr 3:64,067,964...64,103,131 		JBrowse link
G TWNK twinkle mtDNA helicase EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 CTD
ClinVar		 PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		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 IAGP ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome
ClinVar Annotator: match by term: CHD3-related disorder | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome		 OMIM
ClinVar		 PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 More... NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G LOC126862484 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7797066-7798265 IAGP ClinVar Annotator: match by term: CHD3-related disorder | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr17:7,893,748...7,894,947 JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit IAGP ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr17:7,856,685...7,885,420
Ensembl chr17:7,856,685...7,885,238 		JBrowse link
G SCARNA21 small Cajal body-specific RNA 21 IAGP ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr17:7,906,123...7,906,260
Ensembl chr17:7,906,122...7,906,260 		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 IAGP DNA:SNPs: :(human) RGD PMID:18987363 RGD:13450918 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		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 IAGP ClinVar Annotator: match by term: Specific language impairment 5 ClinVar
OMIM		 PMID:19557438 PMID:20848651 PMID:23806086 PMID:23810381 PMID:24088043 More... NCBI chr 2:227,362,038...227,381,647
Ensembl chr 2:227,362,038...227,381,995 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23933820 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid EXP CTD Direct Evidence: marker/mechanism CTD PMID:26005865 NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Speech disorder ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Speech disorder ClinVar PMID:23861362 PMID:24033266 PMID:24459294 PMID:25741868 PMID:26272908 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTPA alpha tocopherol transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053 		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 IAGP ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 5:19,471,296...20,575,713
Ensembl chr 5:19,471,296...20,575,873 		JBrowse link
G FOXP2 forkhead box P2 no_association IAGP DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition
ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: Speech-language disorder 1
DNA:missense mutation:exon:p.R553H (human)
DNA:missense mutation: :p.P215A (human)
DNA:mutations:5' utr, exon, intron:multiple
DNA:deletions: :multiple		 ClinVar
OMIM
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11070093, RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G IMMP2L inner mitochondrial membrane peptidase subunit 2 IAGP ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 7:110,662,644...111,562,492
Ensembl chr 7:110,662,644...111,562,517 		JBrowse link
G LRRN3 leucine rich repeat neuronal 3 IAGP ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 7:111,091,127...111,125,454
Ensembl chr 7:111,091,006...111,125,454 		JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 IAGP ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 4:112,539,339...112,636,909
Ensembl chr 4:112,539,333...112,636,995 		JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112081391 Sharpr-MPRA regulatory region 4669 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,859,579...3,859,885 JBrowse link
G LOC121832782 Sharpr-MPRA regulatory region 4967 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,903,579...3,903,873 JBrowse link
G LOC121832783 Sharpr-MPRA regulatory region 1570 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:4,072,719...4,073,013 JBrowse link
G LOC124418420 Sharpr-MPRA regulatory region 12872 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,958,979...3,959,273 JBrowse link
G LOC124418421 Sharpr-MPRA regulatory region 9588 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:25741868 PMID:28492532 NCBI chr11:4,091,459...4,091,753 JBrowse link
G LOC130005165 ATAC-STARR-seq lymphoblastoid active region 4312 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:24033266 PMID:28492532 NCBI chr11:3,856,080...3,856,289 JBrowse link
G LOC130005166 ATAC-STARR-seq lymphoblastoid active region 4313 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,856,440...3,856,519 JBrowse link
G LOC130005167 ATAC-STARR-seq lymphoblastoid active region 4314 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,856,530...3,856,579 JBrowse link
G LOC130005168 ATAC-STARR-seq lymphoblastoid active region 4315 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,859,366...3,859,545 JBrowse link
G LOC130005169 ATAC-STARR-seq lymphoblastoid active region 4316 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,871,216...3,871,275 JBrowse link
G LOC130005170 ATAC-STARR-seq lymphoblastoid silent region 3093 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,871,496...3,871,585 JBrowse link
G LOC130005171 ATAC-STARR-seq lymphoblastoid active region 4317 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,893,576...3,893,735 JBrowse link
G LOC130005172 ATAC-STARR-seq lymphoblastoid active region 4318 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,894,576...3,894,815 JBrowse link
G LOC130005173 ATAC-STARR-seq lymphoblastoid active region 4319 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:19420366 PMID:20876309 PMID:28492532 NCBI chr11:3,942,931...3,943,060 JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G RHOG ras homolog family member G IAGP ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr11:3,826,978...3,840,959
Ensembl chr11:3,826,978...3,840,959 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP
ISS		 ClinVar Annotator: match by term: Stormorken syndrome
OMIM:185070
ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS		 OMIM
ClinVar
MouseDO		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		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 IAGP ClinVar Annotator: match by term: STAMMERING ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G CNTNAP2 contactin associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21108403 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		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 IAGP 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 chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G SETD6 SET domain containing 6, protein lysine methyltransferase IAGP ClinVar Annotator: match by term: CNOT1-related disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr16:58,515,479...58,523,842
Ensembl chr16:58,515,479...58,523,842 		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 IAGP ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97543
    Developmental Disease 35157
      Neurodevelopmental Disorders 16406
        communication disorder 766
          language disorder 381
            Giacheti Syndrome 0
            Hyperlexia 0
            Language Development Disorders + 117
            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 + 7
            dyslexia + 145
            expressive language disorder 0
            nominal aphasia 0
            speech disorder + 114
Path 2
Term Annotations click to browse term
  disease 97543
    disease of anatomical entity 91157
      nervous system disease 53016
        central nervous system disease 38420
          brain disease 36124
            disease of mental health 29575
              developmental disorder of mental health 14897
                specific developmental disorder 9742
                  communication disorder 766
                    language disorder 381
                      Giacheti Syndrome 0
                      Hyperlexia 0
                      Language Development Disorders + 117
                      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 + 7
                      dyslexia + 145
                      expressive language disorder 0
                      nominal aphasia 0
                      speech disorder + 114
paths to the root