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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:non-syndromic X-linked intellectual disability
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Accession:DOID:0050776 term browser browse the term
Definition:A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO)
Synonyms:exact_synonym: X-linked non-specific mental retardation
 xref: MESH:C564490;   MIM:PS309530;   MONDO:0019181;   ORDO:777


show annotations for term's descendants           Sort by:
non-syndromic X-linked intellectual disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:110,739,633...110,803,416
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:140,182,734...140,302,812
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:28492532 NCBI chr  X:77,843,766...77,937,240
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISS OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 MouseDO NCBI chr  X:69,899,694...69,951,928
Ensembl chr  X:65,860,172...65,910,322 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO DNA:missense mutation:cds:p.P312L (human) RGD PMID:11940089 RGD:11554032 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO
ISS		 DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human)
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability
OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549
DNA:missense mutation:cds:p.R423P (human)		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:9620768 PMID:9668174 RGD:13208823, RGD:13208831 NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:18252223 PMID:19377476 PMID:25741868 PMID:28492532 PMID:29118367 NCBI chr  X:24,350,708...24,480,798
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:55,322,779...56,827,486
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISS OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 MouseDO NCBI chr  X:24,734,202...24,816,566
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:15351775 PMID:26605526 PMID:27247049 PMID:29618507 PMID:32043567 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:111,912,967...112,171,037
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:81,875,348...81,942,046
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:43,496,907...43,548,413
Ensembl chr  X:39,681,910...39,733,519 		JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25644381 PMID:25735484 PMID:25741868 PMID:29728705 PMID:29742418 NCBI chr  X:73,048,983...73,070,302
Ensembl chr  X:68,988,375...69,004,271 		JBrowse link
G Smarca1 SNF2 related chromatin remodeling ATPase 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:131,858,148...131,944,639
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:81,838,483...81,871,767
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:3,581,501...3,679,905
Ensembl chr  X:1,036,153...1,126,102 		JBrowse link
chromosome Xp11.22 duplication syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related disorder ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 More... NCBI chr  X:24,350,708...24,480,798
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
non-syndromic X-linked intellectual developmental disorder 111 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slitrk2 SLIT and NTRK-like family, member 2 ISO
ISS		 OMIM:301107
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 111		 OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:35840571 NCBI chr  X:150,287,418...150,299,832
Ensembl chr  X:145,246,460...145,271,220 		JBrowse link
Non-syndromic X-linked intellectual developmental disorder 114 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114 OMIM
ClinVar		 PMID:39073169 NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
non-syndromic X-linked intellectual disability 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam120c family with sequence similarity 120 member C ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:23,765,089...23,922,059
Ensembl chr  X:20,323,381...20,477,275 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:24,568,551...24,571,012
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:24,350,708...24,480,798
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: IQSEC2-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3177466 PMID:7943039 PMID:9536098 PMID:12210308 PMID:16199547 More... NCBI chr  X:24,734,202...24,816,566
Ensembl chr  X:21,254,914...21,336,584 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:24,821,568...24,866,423
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G Mir98 microRNA 98 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:24,460,648...24,460,755
Ensembl chr  X:20,981,235...20,981,342 		JBrowse link
G Mirlet7f2 microRNA let-7f-2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:24,460,045...24,460,127
Ensembl chr  X:20,980,632...20,980,714 		JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:23,967,126...24,066,473
Ensembl chr  X:20,524,558...20,623,410 		JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:24,571,126...24,583,170
Ensembl chr  X:21,091,717...21,103,200 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 ClinVar PMID:19052029 PMID:23683030 PMID:26059843 PMID:28492532 NCBI chr  X:24,582,732...24,627,462
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:20,064,103...20,072,620 		JBrowse link
G Wnk3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:23,599,278...23,742,290
Ensembl chr  X:20,157,041...20,296,821 		JBrowse link
non-syndromic X-linked intellectual disability 100 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 100 OMIM
ClinVar		 PMID:24812067 PMID:25741868 PMID:28492532 PMID:34346154 PMID:36474027 NCBI chr  X:69,761,803...69,864,335
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
non-syndromic X-linked intellectual disability 101 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 101 | ClinVar Annotator: match by term: MID2-related condition OMIM
ClinVar		 PMID:24115387 PMID:25741868 PMID:28492532 NCBI chr  X:109,143,057...109,245,257
Ensembl chr  X:104,355,316...104,453,473 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 101 ClinVar PMID:25741868 NCBI chr  X:12,261,633...12,399,780
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
non-syndromic X-linked intellectual disability 103 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl15 kelch-like family member 15 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 | ClinVar Annotator: match by term: KLHL15-related condition OMIM
ClinVar		 PMID:24817631 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:62,987,762...63,043,980
Ensembl chr  X:58,995,461...59,046,069 		JBrowse link
non-syndromic X-linked intellectual disability 104 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:28,525,912...29,062,344
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: FRMPD4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 OMIM
ClinVar		 PMID:25644381 PMID:25741868 PMID:26394714 PMID:28492532 PMID:29267967 More... NCBI chr  X:29,739,834...30,386,917
Ensembl chr  X:25,853,934...26,814,637 		JBrowse link
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:29,210,388...29,228,060
Ensembl chr  X:25,637,804...25,655,697 		JBrowse link
non-syndromic X-linked intellectual disability 105 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 | ClinVar Annotator: match by term: USP27X-related condition OMIM
ClinVar		 PMID:25644381 PMID:25741868 PMID:28492532 PMID:38182161 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
non-syndromic X-linked intellectual disability 106 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106 | ClinVar Annotator: match by term: OGT-related condition OMIM
ClinVar		 PMID:9083067 PMID:12724313 PMID:18818698 PMID:21240259 PMID:24033266 More... NCBI chr  X:70,811,317...70,856,123
Ensembl chr  X:66,771,349...66,816,146 		JBrowse link
non-syndromic X-linked intellectual disability 107 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 OMIM
ClinVar		 PMID:25741868 PMID:29374277 PMID:31822863 NCBI chr  X:120,953,335...120,979,861
Ensembl chr  X:116,060,929...116,114,159 		JBrowse link
non-syndromic X-linked intellectual disability 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps6ka3 ribosomal protein S6 kinase A3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19		 OMIM
CTD
ClinVar		 PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 More... NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:35,517,306...35,623,207 		JBrowse link
non-syndromic X-linked intellectual disability 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: IL1RAPL1-related condition | ClinVar Annotator: match by term: IL1RAPL1-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | ClinVar Annotator: match by term: Mental retardation, X-linked 21/34 OMIM
ClinVar		 PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 More... NCBI chr  X:55,322,779...56,827,486
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
non-syndromic X-linked intellectual disability 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak3 p21 (RAC1) activated kinase 3 ISO
ISS		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 | ClinVar Annotator: match by term: PAK3-related condition
OMIM:300558
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 More... NCBI chr  X:111,912,967...112,171,037
Ensembl chr  X:107,260,898...107,368,314 		JBrowse link
non-syndromic X-linked intellectual disability 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: GDI1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 48 OMIM
ClinVar		 PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25559331 More... NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
non-syndromic X-linked intellectual disability 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 45 ClinVar PMID:10398246 PMID:15121780 NCBI chr  X:3,581,501...3,679,905
Ensembl chr  X:1,036,153...1,126,102 		JBrowse link
non-syndromic X-linked intellectual disability 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 46 ClinVar PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:140,182,734...140,302,812
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
non-syndromic X-linked intellectual disability 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn1 synapsin I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50		 OMIM
CTD
ClinVar		 PMID:9415477 PMID:14985377 PMID:21441247 PMID:25741868 PMID:26467025 More... NCBI chr  X:3,725,745...3,780,940
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
non-syndromic X-linked intellectual disability 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan7 tetraspanin 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 | ClinVar Annotator: match by term: TSPAN7-related condition		 OMIM
CTD
ClinVar		 PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:14,881,327...14,978,627
Ensembl chr  X:12,208,783...12,306,131 		JBrowse link
non-syndromic X-linked intellectual disability 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: ACSL4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11889465 PMID:12525535 PMID:25741868 PMID:28333917 PMID:28492532 More... NCBI chr  X:110,739,633...110,803,416
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
non-syndromic X-linked intellectual disability 88 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: MRX88 ClinVar PMID:12089445 PMID:12746399 PMID:14598163 PMID:14722754 PMID:16283672 More... NCBI chr  X:116,914,320...116,918,504
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
non-syndromic X-linked intellectual disability 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: FTSJ1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9
OMIM:309549
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:17221867 More... NCBI chr  X:16,915,087...16,929,426
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
non-syndromic X-linked intellectual disability 90 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: DLG3-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 OMIM
ClinVar		 PMID:15185169 PMID:18414213 PMID:23020937 PMID:24721225 PMID:25741868 More... NCBI chr  X:69,899,694...69,951,928
Ensembl chr  X:65,860,172...65,910,322 		JBrowse link
non-syndromic X-linked intellectual disability 91 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 91 ClinVar PMID:15915161 PMID:25741868 NCBI chr  X:73,633,977...73,767,451
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: BRWD3-related condition | ClinVar Annotator: match by term: BRWD3-related disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7943039 PMID:17668385 PMID:18414213 PMID:23425632 PMID:24462886 More... NCBI chr  X:77,843,766...77,937,240
Ensembl chr  X:73,774,340...73,861,622 		JBrowse link
non-syndromic X-linked intellectual disability 96 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syp synaptophysin ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 OMIM
ClinVar		 PMID:19377476 PMID:23966691 PMID:25741868 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
non-syndromic X-linked intellectual disability 97 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 ClinVar PMID:25741868 NCBI chr  X:81,875,348...81,942,046
Ensembl chr  X:77,683,128...77,749,688 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 OMIM
ClinVar		 PMID:10398247 PMID:19377476 PMID:25741868 PMID:27993705 PMID:28454995 More... NCBI chr  X:81,838,483...81,871,767
Ensembl chr  X:77,646,558...77,678,045 		JBrowse link
non-syndromic X-linked intellectual disability 98 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nexmif neurite extension and migration factor ISO
ISS		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | ClinVar Annotator: match by term: NEXMIF-related condition
OMIM:300912		 OMIM
ClinVar
MouseDO		 PMID:15466006 PMID:23615299 PMID:24307393 PMID:25590979 PMID:25741868 More... NCBI chr  X:73,153,786...73,284,943
Ensembl chr  X:69,088,076...69,112,930 		JBrowse link
non-syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:25741868 NCBI chr  X:24,350,708...24,480,798
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:105,030,035...105,032,866
Ensembl chr 1:95,893,457...95,897,243 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related disorder | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder OMIM
ClinVar		 PMID:19377476 PMID:24607389 PMID:25741868 PMID:25763846 PMID:26833328 More... NCBI chr  X:12,261,633...12,399,780
Ensembl chr  X:9,588,825...9,696,711 		JBrowse link
non-syndromic X-linked intellectual disability ARX-related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Neurodevelopmental Disorders 6971
        intellectual disability 4391
          non-syndromic intellectual disability 55
            non-syndromic X-linked intellectual disability 51
              Non-syndromic X-linked intellectual developmental disorder 114 1
              chromosome Xp11.22 duplication syndrome 1
              non-syndromic X-linked intellectual developmental disorder 111 1
              non-syndromic X-linked intellectual disability 1 13
              non-syndromic X-linked intellectual disability 100 1
              non-syndromic X-linked intellectual disability 101 2
              non-syndromic X-linked intellectual disability 103 1
              non-syndromic X-linked intellectual disability 104 3
              non-syndromic X-linked intellectual disability 105 1
              non-syndromic X-linked intellectual disability 106 1
              non-syndromic X-linked intellectual disability 107 1
              non-syndromic X-linked intellectual disability 14 0
              non-syndromic X-linked intellectual disability 19 1
              non-syndromic X-linked intellectual disability 2 0
              non-syndromic X-linked intellectual disability 20 0
              non-syndromic X-linked intellectual disability 21 1
              non-syndromic X-linked intellectual disability 23 0
              non-syndromic X-linked intellectual disability 30 1
              non-syndromic X-linked intellectual disability 41 1
              non-syndromic X-linked intellectual disability 42 0
              non-syndromic X-linked intellectual disability 45 1
              non-syndromic X-linked intellectual disability 46 1
              non-syndromic X-linked intellectual disability 50 1
              non-syndromic X-linked intellectual disability 53 0
              non-syndromic X-linked intellectual disability 58 1
              non-syndromic X-linked intellectual disability 63 1
              non-syndromic X-linked intellectual disability 72 0
              non-syndromic X-linked intellectual disability 73 0
              non-syndromic X-linked intellectual disability 77 0
              non-syndromic X-linked intellectual disability 81 0
              non-syndromic X-linked intellectual disability 82 0
              non-syndromic X-linked intellectual disability 84 0
              non-syndromic X-linked intellectual disability 88 1
              non-syndromic X-linked intellectual disability 89 0
              non-syndromic X-linked intellectual disability 9 1
              non-syndromic X-linked intellectual disability 90 1
              non-syndromic X-linked intellectual disability 91 1
              non-syndromic X-linked intellectual disability 92 0
              non-syndromic X-linked intellectual disability 93 1
              non-syndromic X-linked intellectual disability 96 1
              non-syndromic X-linked intellectual disability 97 2
              non-syndromic X-linked intellectual disability 98 1
              non-syndromic X-linked intellectual disability 99 3
              non-syndromic X-linked intellectual disability ARX-related 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              developmental disorder of mental health 5653
                specific developmental disorder 4621
                  intellectual disability 4391
                    non-syndromic intellectual disability 55
                      non-syndromic X-linked intellectual disability 51
                        Non-syndromic X-linked intellectual developmental disorder 114 1
                        chromosome Xp11.22 duplication syndrome 1
                        non-syndromic X-linked intellectual developmental disorder 111 1
                        non-syndromic X-linked intellectual disability 1 13
                        non-syndromic X-linked intellectual disability 100 1
                        non-syndromic X-linked intellectual disability 101 2
                        non-syndromic X-linked intellectual disability 103 1
                        non-syndromic X-linked intellectual disability 104 3
                        non-syndromic X-linked intellectual disability 105 1
                        non-syndromic X-linked intellectual disability 106 1
                        non-syndromic X-linked intellectual disability 107 1
                        non-syndromic X-linked intellectual disability 14 0
                        non-syndromic X-linked intellectual disability 19 1
                        non-syndromic X-linked intellectual disability 2 0
                        non-syndromic X-linked intellectual disability 20 0
                        non-syndromic X-linked intellectual disability 21 1
                        non-syndromic X-linked intellectual disability 23 0
                        non-syndromic X-linked intellectual disability 30 1
                        non-syndromic X-linked intellectual disability 41 1
                        non-syndromic X-linked intellectual disability 42 0
                        non-syndromic X-linked intellectual disability 45 1
                        non-syndromic X-linked intellectual disability 46 1
                        non-syndromic X-linked intellectual disability 50 1
                        non-syndromic X-linked intellectual disability 53 0
                        non-syndromic X-linked intellectual disability 58 1
                        non-syndromic X-linked intellectual disability 63 1
                        non-syndromic X-linked intellectual disability 72 0
                        non-syndromic X-linked intellectual disability 73 0
                        non-syndromic X-linked intellectual disability 77 0
                        non-syndromic X-linked intellectual disability 81 0
                        non-syndromic X-linked intellectual disability 82 0
                        non-syndromic X-linked intellectual disability 84 0
                        non-syndromic X-linked intellectual disability 88 1
                        non-syndromic X-linked intellectual disability 89 0
                        non-syndromic X-linked intellectual disability 9 1
                        non-syndromic X-linked intellectual disability 90 1
                        non-syndromic X-linked intellectual disability 91 1
                        non-syndromic X-linked intellectual disability 92 0
                        non-syndromic X-linked intellectual disability 93 1
                        non-syndromic X-linked intellectual disability 96 1
                        non-syndromic X-linked intellectual disability 97 2
                        non-syndromic X-linked intellectual disability 98 1
                        non-syndromic X-linked intellectual disability 99 3
                        non-syndromic X-linked intellectual disability ARX-related 1
paths to the root