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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
 primary_id: MESH:C564490
 xref: OMIM:PS309530;   ORDO:777



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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:98,731,109...98,841,067
Ensembl chr  X:109,206,964...109,310,914
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:125,794,158...125,909,809
Ensembl chr  X:136,058,879...136,176,110
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:143,870,421...143,878,288
Ensembl chr  X:153,740,751...153,748,621
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:69,718,532...69,857,507
Ensembl chr  X:79,832,517...79,964,187
JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 ISO 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:59,712,755...59,773,372
Ensembl chr  X:69,771,477...69,831,369
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:143,885,931...143,892,435 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:46,648,765...46,699,444
Ensembl chr  X:54,880,513...54,930,672
JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25741868 NCBI chr  X:143,878,690...143,885,251
Ensembl chr  X:153,749,661...153,755,877
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:45,746,228...45,897,250
Ensembl chr  X:53,855,404...54,005,366
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:21,180,693...22,548,122
Ensembl chr  X:28,950,521...30,109,286
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO 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: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:45,447,977...45,535,836
Ensembl chr  X:53,557,563...53,644,737
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:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
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:100,060,647...100,345,491
Ensembl chr  X:110,672,664...110,797,992
JBrowse link
G POF1B POF1B actin binding protein ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:74,347,322...74,444,182
Ensembl chr  X:84,457,716...84,554,627
JBrowse link
G PTCHD1 patched domain containing 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:15,929,619...15,991,194
Ensembl chr  X:23,305,555...23,366,273
JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:144,728,535...144,734,893
Ensembl chr  X:154,567,361...154,573,715
JBrowse link
G RLIM ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:25735484 PMID:25741868 NCBI chr  X:63,834,345...63,865,874
Ensembl chr  X:73,959,365...73,982,412
JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:39,881,999...39,922,058
Ensembl chr  X:47,777,784...47,818,791
JBrowse link
G ZNF674 zinc finger protein 674 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:38,935,585...38,983,728
Ensembl chr  X:46,799,224...46,846,082
JBrowse link
G ZNF711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:74,314,161...74,343,246
Ensembl chr  X:84,424,414...84,453,640
JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:40,258,879...40,355,254
Ensembl chr  X:48,153,161...48,239,640
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 NCBI chr  X:45,746,228...45,897,250
Ensembl chr  X:53,855,404...54,005,366
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 ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 111 OMIM
ClinVar
PMID:25741868 PMID:35840571 NCBI chr  X:134,853,269...134,865,281
Ensembl chr  X:145,235,542...145,238,079
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 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:45,645,849...45,649,039
Ensembl chr  X:53,754,164...53,757,643
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:45,746,228...45,897,250
Ensembl chr  X:53,855,404...54,005,366
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: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 OMIM
ClinVar
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 More... NCBI chr  X:45,447,977...45,535,836
Ensembl chr  X:53,557,563...53,644,737
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:45,377,609...45,440,025
Ensembl chr  X:53,515,886...53,548,785
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:45,637,328...45,645,769
Ensembl chr  X:53,745,499...53,755,179
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:45,576,100...45,637,314
Ensembl chr  X:53,697,154...53,745,636
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 NCBI chr  X:59,558,491...59,688,711
Ensembl chr  X:69,618,244...69,746,235
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 OMIM
ClinVar
PMID:24115387 PMID:25741868 NCBI chr  X:96,917,731...97,026,545
Ensembl chr  X:107,290,776...107,393,162
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:33,535,543...33,683,220
Ensembl chr  X:41,232,041...41,379,910
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 OMIM
ClinVar
PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:16,583,117...16,625,029
Ensembl chr  X:23,956,827...23,997,742
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:3,767,259...4,291,738
Ensembl chr  X:11,058,207...11,582,115
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:4,450,486...5,336,784
Ensembl chr  X:12,399,479...12,622,978
JBrowse link
G MSL3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 ClinVar NCBI chr  X:4,385,861...4,403,467
Ensembl chr  X:11,672,109...11,693,468
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 OMIM
ClinVar
PMID:25644381 PMID:25741868 PMID:38182161 NCBI chr  X:42,093,799...42,097,346
Ensembl chr  X:49,809,559...49,810,875
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 OMIM
ClinVar
PMID:9083067 PMID:12724313 PMID:18818698 PMID:21240259 PMID:24033266 More... NCBI chr  X:60,798,219...60,840,948
Ensembl chr  X:70,852,687...70,894,921
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 NCBI chr  X:108,570,634...108,598,045
Ensembl chr  X:118,997,850...119,024,661
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 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 OMIM
ClinVar
PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 More... NCBI chr  X:12,772,368...12,893,062
Ensembl chr  X:20,133,898...20,251,244
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: 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:21,180,693...22,548,122
Ensembl chr  X:28,950,521...30,109,286
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 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 OMIM
ClinVar
PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 More... NCBI chr  X:100,060,647...100,345,491
Ensembl chr  X:110,672,664...110,797,992
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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 OMIM
ClinVar
PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25559331 More... NCBI chr  X:143,878,690...143,885,251
Ensembl chr  X:153,749,661...153,755,877
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:40,258,879...40,355,254
Ensembl chr  X:48,153,161...48,239,640
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:125,794,158...125,909,809
Ensembl chr  X:136,058,879...136,176,110
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 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 OMIM
ClinVar
PMID:9415477 PMID:14985377 PMID:21441247 PMID:25741868 PMID:26467025 More... NCBI chr  X:40,007,777...40,055,801 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 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 OMIM
ClinVar
PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:31,006,297...31,133,856
Ensembl chr  X:38,714,162...38,841,328
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 OMIM
ClinVar
PMID:11889465 PMID:12525535 PMID:25741868 NCBI chr  X:98,731,109...98,841,067
Ensembl chr  X:109,206,964...109,310,914
JBrowse link
non-syndromic X-linked intellectual disability 72 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72 OMIM
ClinVar
PMID:11050621 PMID:19377476 PMID:20159109 PMID:25741868 PMID:26467025 More... NCBI chr  X:144,728,535...144,734,893
Ensembl chr  X:154,567,361...154,573,715
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:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
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 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 OMIM
ClinVar
PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:17221867 More... NCBI chr  X:40,774,056...40,784,290
Ensembl chr  X:48,638,454...48,648,779
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: DLG3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 OMIM
ClinVar
PMID:15185169 PMID:23020937 PMID:24721225 PMID:25741868 PMID:27222290 More... NCBI chr  X:59,712,755...59,773,372
Ensembl chr  X:69,771,477...69,831,369
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:64,624,908...64,777,305
Ensembl chr  X:74,737,281...74,889,055
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 Disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93 OMIM
ClinVar
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 More... NCBI chr  X:69,718,532...69,857,507
Ensembl chr  X:79,832,517...79,964,187
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:41,487,538...41,500,039
Ensembl chr  X:49,340,021...49,352,420
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 NCBI chr  X:74,347,322...74,444,182
Ensembl chr  X:84,457,716...84,554,627
JBrowse link
G ZNF711 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:74,314,161...74,343,246
Ensembl chr  X:84,424,414...84,453,640
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 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | ClinVar Annotator: match by term: NEXMIF-related condition OMIM
ClinVar
PMID:15466006 PMID:23615299 PMID:24307393 PMID:25590979 PMID:25741868 More... NCBI chr  X:63,985,226...64,177,750
Ensembl chr  X:74,107,799...74,114,635
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:45,746,228...45,897,250
Ensembl chr  X:53,855,404...54,005,366
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 Ensembl chr19:54,995,009...54,995,641 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 neurodevelopmental disorder OMIM
ClinVar
PMID:19377476 PMID:24607389 PMID:25741868 PMID:26833328 PMID:28492532 More... NCBI chr  X:33,535,543...33,683,220
Ensembl chr  X:41,232,041...41,379,910
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 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:17,598,858...17,612,544 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    Developmental Disease 17892
      Neurodevelopmental Disorders 6830
        intellectual disability 4304
          non-syndromic intellectual disability 50
            non-syndromic X-linked intellectual disability 46
              chromosome Xp11.22 duplication syndrome 1
              non-syndromic X-linked intellectual developmental disorder 111 1
              non-syndromic X-linked intellectual disability 1 6
              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 1
              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 18006
    disease of anatomical entity 15252
      nervous system disease 13275
        central nervous system disease 11900
          brain disease 11183
            disease of mental health 8094
              developmental disorder of mental health 5529
                specific developmental disorder 4489
                  intellectual disability 4304
                    non-syndromic intellectual disability 50
                      non-syndromic X-linked intellectual disability 46
                        chromosome Xp11.22 duplication syndrome 1
                        non-syndromic X-linked intellectual developmental disorder 111 1
                        non-syndromic X-linked intellectual disability 1 6
                        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 1
                        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