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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:X-Linked Intellectual Developmental Disorders
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Accession:DOID:9005867 term browser browse the term
Definition:A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
Synonyms:exact_synonym: X Linked Mental Retardation Syndromes;   X-Linked Intellectual Developmental Disorder;   X-Linked Mental Retardation;   X-Linked Mental Retardation Disorders
 primary_id: MESH:D038901



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X-Linked Intellectual Developmental Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089445 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807943 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513
JBrowse link
G Arx aristaless related homeobox ISO DNA:missense mutation:cds:p.L33P (human)
DNA:duplication:exon:c.428-451dup (human)
RGD PMID:11971879 PMID:15850492 RGD:1599257, RGD:11565836 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Atrx ATRX, chromatin remodeler ISO DNA:missense mutation:cds:p.T1621M (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19291773 PMID:12116232 RGD:11040586 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 PMID:19377476 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21264219 NCBI chr  X:4,205,486...4,274,939
Ensembl chr  X:4,205,490...4,271,574
JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15185169 PMID:15185169 RGD:1300392 NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322
JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked ClinVar PMID:17221867 PMID:25741868 NCBI chr  X:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970
JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11940089 NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:p.S396PfsX15 (human)
CTD
RGD
PMID:8826463 PMID:9668174 PMID:22002931 RGD:13208827 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED | ClinVar Annotator: match by term: Mental retardation, X-linked ClinVar PMID:23000143 PMID:25740848 PMID:25741868 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
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 ClinVar PMID:25741868 NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18801879 NCBI chr  X:51,371,969...52,876,726
Ensembl chr  X:51,378,215...52,876,772
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20473311 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503438 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO DNA:missense mutations:cds:p.E137G, p.R167W (human) RGD PMID:11309367 RGD:1601320 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human)
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
RGD PMID:24039113 PMID:17334363 RGD:12910947, RGD:12910952 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Ophn1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human)
CTD
RGD
PMID:17941886 PMID:12805098 PMID:21796728 RGD:13207442, RGD:13207441 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633
JBrowse link
G Pcdh19 protocadherin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469813 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Ptchd1 patched domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21091464 NCBI chr  X:39,681,910...39,733,416
Ensembl chr  X:39,681,910...39,733,519
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18350323 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED ClinVar PMID:25741868 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347
JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19377476 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704778 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236
JBrowse link
G Zfp711 zinc finger protein 711 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19377476 NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO
ISS
ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy
OMIM:300100
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983
JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:126,189...130,123 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446
JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839
JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789
JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810
JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177
JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO
ISS
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy
OMIM:300523
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link
G Atrx ATRX, chromatin remodeler ISO
ISS
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome
OMIM:301040
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 More... RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
Armfield syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam50a family with sequence similarity 50, member A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Armfield syndrome | ClinVar Annotator: match by term: FAM50A-related condition
OMIM
CTD
ClinVar
PMID:10398235 PMID:25741868 PMID:32703943 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
OMIM
CTD
ClinVar
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
Atkin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:21,089,142...21,091,603
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: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:20,873,795...21,001,378
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: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific ClinVar PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 More... NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Mir98 microRNA 98 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:20,981,235...20,981,342
Ensembl chr  X:20,981,235...20,981,342
JBrowse link
G Mirlet7f2 microRNA let-7f-2 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:20,980,632...20,980,714
Ensembl chr  X:20,980,632...20,980,714
JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:26059843 PMID:28492532 NCBI chr  X:21,091,717...21,103,688
Ensembl chr  X:21,091,717...21,103,200
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:19052029 PMID:23683030 PMID:26059843 PMID:28492532 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link
Basilicata-Akhtar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Basilicata-Akhtar syndrome OMIM
ClinVar
PMID:25741868 PMID:30224647 PMID:33173220 NCBI chr  X:25,638,029...25,655,698
Ensembl chr  X:25,637,804...25,655,697
JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO
ISS
OMIM:301900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders
OMIM
MouseDO
CTD
ClinVar
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link
cerebral creatine deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983
JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:126,189...130,123 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446
JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839
JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789
JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO
ISS
ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency
OMIM:300352
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9384614 PMID:9536098 PMID:10480214 PMID:11326334 PMID:11748843 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810
JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO
ISS
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
OMIM:300243
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
chromosome Xp11.22 duplication syndrome term browser
Symbol Object Name Qualifiers 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:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by term: Lissencephaly, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple
ClinVar
CTD
RGD
PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... RGD:11568595, RGD:12904735, RGD:12904728 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
JBrowse link
Coffin-Lowry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,365,748...33,389,773 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807
JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466
JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO
ISS
ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome
OMIM:303600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:5581017 PMID:8955270 PMID:9536098 PMID:9837815 PMID:9887375 More... NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742
JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition
OMIM
CTD
ClinVar
PMID:25741868 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049
JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
ISS
IMP
ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
OMIM:300257
CTD Direct Evidence: marker/mechanism
in hemizygote mutant male (LAMP2y/-)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 More... RGD:13703117 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644
JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023
JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:33,365,748...33,389,773 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO
ISS
DNA:mutations:cds:
ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
OMIM:300672
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:9536098 PMID:10533068 PMID:15492925 PMID:15499549 PMID:15689447 More... RGD:12791015 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807
JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466
JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:9536098 PMID:10533068 PMID:15499549 PMID:16813600 PMID:17304053 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742
JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
female-restricted syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp9x ubiquitin specific peptidase 9, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition
OMIM
CTD
ClinVar
PMID:25741868 PMID:26833328 PMID:28492532 PMID:34008892 NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19200522 RGD:11576290 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
RGD
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910952, RGD:12910948 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823
JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 More... NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,210,071...66,216,482
Ensembl chr  X:66,210,081...66,215,708
JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,226,995...66,356,945
Ensembl chr  X:66,227,053...66,356,950
JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543
JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187
JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,528,585...66,544,234
Ensembl chr  X:66,528,585...66,544,782
JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar
PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar
PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
fragile X syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgb androglobin ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,753,621...4,896,268
Ensembl chr 1:4,753,621...4,896,190
JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: therapeutic CTD PMID:22046307 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO RGD PMID:22900020 RGD:11558008 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:24352881 RGD:10401097 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO
ISS
IMP
DNA:trinucleotide expansion
ClinVar Annotator: match by term: Fragile X syndrome
OMIM:300624
compared to SD control;DNA:deletion:intron 7, exon 8:
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 More... RGD:1601178, RGD:38548928, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Fmr1em1Mzhe FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe IMP RGD PMID:28894415 RGD:38501107
G Fmr1em1Sage FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP DNA:deletion:intron 7, exon 8:
compared to SD control;DNA:deletion:intron 7, exon 8:
RGD PMID:27465362 PMID:30877790 RGD:38548926, RGD:38548928
G Grm1 glutamate metabotropic receptor 1 ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251 PMID:26850918 RGD:13204755, RGD:11572344 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nrxn3 neurexin 3 ISO mRNA:decreased expression:hippocampus,somatosendory cortex RGD PMID:26235839 RGD:11554325 NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934
JBrowse link
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO
ISS
OMIM:300623
ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome
human gene in a mouse model
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
RGD
PMID:27385396 PMID:15876460 RGD:12050151 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type OMIM
ClinVar
PMID:25741868 PMID:26358559 PMID:31587868 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: DDX3X-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: X-linked intellectual disability-hypotonia-movement disorder syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2563148 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency
OMIM
CTD
ClinVar
PMID:8826446 PMID:12428212 PMID:21289259 PMID:23757202 PMID:25741868 More... NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678
JBrowse link
Lesch-Nyhan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO
ISS
ClinVar Annotator: match by term: Lesch-Nyhan syndrome
OMIM:300322
CTD Direct Evidence: marker/mechanism
DNA:deletion,insertion,duplication:cds:
DNA:mutations:multiple:
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1301916 PMID:1434518 PMID:1551676 PMID:1618489 PMID:1639405 More... RGD:13463104, RGD:13462064 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO DNA,mRNA:missense mutations,decreased expression:cds:
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant
ClinVar
RGD
PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 More... RGD:13463104 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MEHMO syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:58,916,513...58,939,923
Ensembl chr  X:58,917,490...58,940,686
JBrowse link
Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO
ISS
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
OMIM:309400
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon:
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons, introns:p.G876delX2 (human)
DNA:mutations:multiple (human)
DNA:deletion:cds:p.A799_L800del (mouse)
DNA:snp:intron:c.4268+3A>T (human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:7842019 PMID:7977350 PMID:8528242 PMID:8812725 PMID:8981948 More... RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:25741868 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
JBrowse link
G Lox lysyl oxidase ISO
ISS
OMIM:309400 MouseDO
RGD
PMID:8638917 RGD:1581895 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418
JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Hcfc1 host cell factor C1 ISO
ISS
OMIM:309541
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM
MouseDO
CTD
ClinVar
PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
mucopolysaccharidosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ids iduronate 2-sulfatase ISO
ISS
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form
OMIM:309900
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... RGD:1599819, RGD:12910721 NCBI chr  X:149,025,976...149,046,641
Ensembl chr  X:149,025,976...149,046,663
JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II ClinVar PMID:25741868 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
JBrowse link
Mullegama-Klein-Martinez syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder OMIM
ClinVar
PMID:25741868 PMID:28296084 PMID:28492532 PMID:29263825 PMID:30158690 More... NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677
JBrowse link
non-syndromic X-linked intellectual developmental disorder 111 term browser
Symbol Object Name Qualifiers 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:145,246,448...145,259,983
Ensembl chr  X:145,246,460...145,271,220
JBrowse link
non-syndromic X-linked intellectual disability term browser
Symbol Object Name Qualifiers 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:105,942,794...106,006,573
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:135,145,447...135,264,636
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:152,079,954...152,087,034
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:73,768,343...73,861,643
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:65,859,653...65,911,887
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:152,095,245...152,102,362
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:20,023,746...20,066,734
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:152,087,611...152,094,274
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:20,873,795...21,001,378
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:51,371,969...52,876,726
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:21,254,799...21,337,179
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:151,781,177...151,844,687
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:107,116,308...107,374,342
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 NCBI chr  X:77,683,128...77,749,827
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:39,681,910...39,733,416
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:25735484 PMID:25741868 NCBI chr  X:68,983,259...69,004,368
Ensembl chr  X:68,988,375...69,004,271
JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045
JBrowse link
G Znf81L zinc finger protein 81 like ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102
JBrowse link
non-syndromic X-linked intellectual disability 1 term browser
Symbol Object Name Qualifiers 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:21,089,142...21,091,603
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:20,873,795...21,001,378
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: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 More... NCBI chr  X:21,254,799...21,337,179
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:21,345,459...21,387,045
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:20,981,235...20,981,342
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:20,980,632...20,980,714
Ensembl chr  X:20,980,632...20,980,714
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:21,091,717...21,103,688
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:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link
non-syndromic X-linked intellectual disability 100 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24812067 PMID:25741868 PMID:28492532 PMID:34346154 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139
JBrowse link
non-syndromic X-linked intellectual disability 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid2 midline 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, X-linked 101
OMIM
CTD
ClinVar
PMID:24115387 PMID:25741868 NCBI chr  X:104,354,692...104,456,757
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:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
non-syndromic X-linked intellectual disability 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl15 kelch-like family member 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103
OMIM
CTD
ClinVar
PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:58,994,726...59,050,207
Ensembl chr  X:58,995,461...59,046,069
JBrowse link
non-syndromic X-linked intellectual disability 104 term browser
Symbol Object Name Qualifiers 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:24,953,464...25,490,003
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25644381 PMID:25741868 PMID:26394714 PMID:28492532 PMID:29267967 More... NCBI chr  X:25,853,849...26,814,642
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:25,638,029...25,655,698
Ensembl chr  X:25,637,804...25,655,697
JBrowse link
non-syndromic X-linked intellectual disability 105 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25644381 PMID:25741868 PMID:38182161 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
non-syndromic X-linked intellectual disability 106 term browser
Symbol Object Name Qualifiers 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:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146
JBrowse link
non-syndromic X-linked intellectual disability 107 term browser
Symbol Object Name Qualifiers 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:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159
JBrowse link
non-syndromic X-linked intellectual disability 19 term browser
Symbol Object Name Qualifiers 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:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
JBrowse link
non-syndromic X-linked intellectual disability 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 More... NCBI chr  X:51,371,969...52,876,726
Ensembl chr  X:51,378,215...52,876,772
JBrowse link
non-syndromic X-linked intellectual disability 30 term browser
Symbol Object Name Qualifiers 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
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:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314
JBrowse link
non-syndromic X-linked intellectual disability 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41
OMIM
CTD
ClinVar
PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25559331 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
non-syndromic X-linked intellectual disability 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf81L zinc finger protein 81 like ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 45 ClinVar PMID:10398246 PMID:15121780 NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102
JBrowse link
non-syndromic X-linked intellectual disability 46 term browser
Symbol Object Name Qualifiers 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:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
non-syndromic X-linked intellectual disability 50 term browser
Symbol Object Name Qualifiers 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:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396
JBrowse link
non-syndromic X-linked intellectual disability 58 term browser
Symbol Object Name Qualifiers 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
OMIM
CTD
ClinVar
PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:12,208,783...12,306,092
Ensembl chr  X:12,208,783...12,306,131
JBrowse link
non-syndromic X-linked intellectual disability 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:11889465 PMID:12525535 PMID:25741868 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427
JBrowse link
non-syndromic X-linked intellectual disability 88 term browser
Symbol Object Name Qualifiers 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:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
non-syndromic X-linked intellectual disability 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO
ISS
OMIM:309549
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9
OMIM
MouseDO
CTD
ClinVar
PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:17221867 More... NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030
JBrowse link
non-syndromic X-linked intellectual disability 90 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15185169 PMID:23020937 PMID:24721225 PMID:25741868 PMID:27222290 More... NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322
JBrowse link
non-syndromic X-linked intellectual disability 91 term browser
Symbol Object Name Qualifiers 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:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756
JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 More... NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622
JBrowse link
non-syndromic X-linked intellectual disability 96 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96
OMIM
CTD
ClinVar
PMID:19377476 PMID:23966691 PMID:25741868 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
non-syndromic X-linked intellectual disability 97 term browser
Symbol Object Name Qualifiers 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:77,683,128...77,749,827
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:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045
JBrowse link
non-syndromic X-linked intellectual disability 98 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:15466006 PMID:23615299 PMID:24307393 PMID:25590979 PMID:25741868 More... NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930
JBrowse link
non-syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Qualifiers 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:20,873,795...21,001,378
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 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder
OMIM
CTD
ClinVar
PMID:19377476 PMID:24607389 PMID:25741868 PMID:26833328 PMID:28492532 More... NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
non-syndromic X-linked intellectual disability ARX-related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
Paganini-Miozzo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Paganini-Miozzo syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30471091 NCBI chr  X:130,966,547...131,261,629
Ensembl chr  X:130,968,385...131,261,492
JBrowse link
Partington syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
DNA:duplication:exon:c.428-451dup (human)
OMIM
CTD
ClinVar
RGD
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO
ISS
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
OMIM:264470
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052
JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
Ensembl chr 5:155,815,296...155,854,861
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7719337 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18712838 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766
JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
OMIM
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
JBrowse link
Prieto syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: Prieto syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3121220 PMID:26350204 PMID:35678782 NCBI chr  X:20,156,260...20,299,252
Ensembl chr  X:20,157,041...20,296,821
JBrowse link
pyruvate decarboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO
IMP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1293379 PMID:1301207 PMID:1338114 PMID:1779625 PMID:1909778 More... RGD:731230, RGD:13207454, RGD:13207453 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:15138885 PMID:17576681 PMID:25741868 PMID:28492532 More... RGD:1599115 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773
JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO Pyruvate dehydrogenase deficiency OMIA PMID:516334 PMID:552740 PMID:7361423 PMID:15049576 PMID:17095275 NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217
JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466
JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd6 abhydrolase domain containing 6, acylglycerol lipase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:16,859,740...16,907,094
Ensembl chr15:16,859,738...16,906,985
JBrowse link
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
JBrowse link
G Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,118,503...2,166,741
Ensembl chr16:2,121,255...2,166,692
JBrowse link
G Arf4 ADP-ribosylation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,896,692...1,913,267
Ensembl chr16:1,896,546...1,913,261
JBrowse link
G Asb14 ankyrin repeat and SOCS box-containing 14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,095,567...2,123,259
Ensembl chr16:2,095,644...2,115,135
JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,837,019...1,885,420
Ensembl chr16:1,837,059...1,885,420
JBrowse link
G Dnah12 dynein, axonemal, heavy chain 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,936,354...2,092,663
Ensembl chr16:1,937,817...2,092,664
JBrowse link
G Dnase1l3 deoxyribonuclease 1-like 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
JBrowse link
G Kctd6 potassium channel tetramerization domain containing 6 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:16,695,297...16,712,460
Ensembl chr15:16,695,297...16,698,699
JBrowse link
G Pde12 phosphodiesterase 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,920,062...1,925,638
Ensembl chr16:1,915,386...1,925,887
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency
OMIM
CTD
ClinVar
PMID:9536098 PMID:15138885 PMID:16199547 PMID:17576681 PMID:18164639 More... NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500
JBrowse link
G Pxk PX domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:16,759,857...16,828,452
Ensembl chr15:16,759,862...16,828,444
JBrowse link
G Rpp14 ribonuclease P/MRP subunit p14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:16,837,796...16,847,970
Ensembl chr15:16,836,859...16,852,101
Ensembl chr15:16,836,859...16,852,101
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,667,208...1,785,149
JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 More... NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:50,909,052...50,913,217
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar NCBI chr 3:89,431,964...89,458,000
Ensembl chr 3:89,432,037...89,458,340
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
OMIM
CTD
ClinVar
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773
JBrowse link
Raynaud-Claes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:23647072 More... NCBI chr  X:23,729,194...23,795,391
Ensembl chr  X:23,729,338...23,793,238
JBrowse link
Renpenning syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pqbp1 polyglutamine binding protein 1 ISO
ISS
OMIM:309500
ClinVar Annotator: match by term: Renpenning syndrome
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 More... NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Renpenning syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32903913 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
Rett syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:18710461 RGD:5686812 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rett syndrome
DNA:missense mutations:cds:
CTD
ClinVar
RGD
PMID:16015284 PMID:18414213 PMID:19241098 PMID:19396824 PMID:25657822 More... RGD:11070543 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:16917026 PMID:18161030 PMID:18626973 PMID:21850686 PMID:22661499 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19000991 NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Foxg1 forkhead box G1 ISS
ISO
OMIM:312750 | OMIM:613454
ClinVar Annotator: match by term: Rett syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28590052 More... NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:15712379 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO protein:increased expression:locus ceruleus RGD PMID:21307341 RGD:8662896 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Map2 microtubule-associated protein 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO
ISS
IMP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Rett syndrome
OMIM:312750 | OMIM:613454
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons, introns, 3' utr:multiple (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 More... RGD:1601319, RGD:11568037, RGD:12790974, RGD:12743654, RGD:1601318 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:27313794 RGD:11568037
G Mir199a2 microRNA 199a-2 ISS OMIM:312750 | OMIM:613454 MouseDO NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214522 NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
JBrowse link
G Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:18298893 PMID:25741868 PMID:28492532 PMID:29276004 NCBI chr15:44,868,251...44,888,436
Ensembl chr15:44,870,376...44,888,651
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO RGD PMID:20869373 RGD:9590158 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
JBrowse link
Rett Syndrome, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:25741868 PMID:33073849 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:10508514 PMID:10854091 PMID:11035019 PMID:11055898 PMID:11269512 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Pals1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:25741868 PMID:33073849 NCBI chr 6:97,548,133...97,654,163
Ensembl chr 6:97,548,630...97,653,305
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:19428276 PMID:28492532 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
Rett Syndrome, Congenital Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Rett syndrome, congenital variant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: Rett syndrome, congenital variant
OMIM
ClinVar
CTD
PMID:18414213 PMID:18571142 PMID:19564653 PMID:19578037 PMID:19623215 More... NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
JBrowse link
Rett Syndrome, Zappella Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Rett syndrome, zappella variant ClinVar PMID:1191367 PMID:4413922 PMID:10508514 PMID:10577905 PMID:10745042 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
Roifman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Roifman syndrome ClinVar PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
JBrowse link
severe congenital encephalopathy due to MECP2 mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:10986043 PMID:14560307 PMID:15351775 PMID:15689435 PMID:16080119 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly
CTD
OMIM
ClinVar
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
JBrowse link
Stocco Dos Santos type X-linked intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987
JBrowse link
G Gspt2 G1 to S phase transition 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:59,587,237...59,589,758
Ensembl chr  X:59,587,276...59,594,162
JBrowse link
G Maged1 MAGE family member D1 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:59,422,715...59,429,381
Ensembl chr  X:59,422,717...59,429,364
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Nudt10 nudix hydrolase 10 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145
JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:12673656 PMID:16249884 PMID:18414213 PMID:23757202 PMID:23871722 More... NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869
JBrowse link
G Ssx2 SSX family member 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:698,867...715,891
Ensembl chr  X:698,882...715,907
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
subcortical band heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:missense mutation, nonsense mutations:exon:p.R186C (556C>T), p.R272X (814C>T), p.R303X (907C>T) (human)
ClinVar Annotator: match by term: Subcortical band heterotopia
ClinVar
RGD
PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 PMID:10369164 RGD:12904717 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Eml1 EMAP like 1 ISO
ISS
OMIM:600348
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Band heterotopia of brain
OMIM
MouseDO
CTD
ClinVar
PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr 6:127,283,968...127,457,246
Ensembl chr 6:127,284,029...127,457,246
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
JBrowse link
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO
IMP
DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)
RGD PMID:19050731 PMID:9618162 PMID:19098909 RGD:12904718, RGD:12904762, RGD:12904725 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO DNA:missense mutation:exon:254C>T (p.P85L) (human)
ClinVar Annotator: match by term: Microphthalmia, syndromic 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:24728327 PMID:25741868 PMID:28492532 PMID:15004558 RGD:1600504 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microphthalmia, syndromic 1
OMIM
CTD
ClinVar
PMID:1679229 PMID:11426460 PMID:16114045 PMID:24033266 PMID:24431331 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
syndromic X-linked intellectual developmental disorder Bain type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE ClinVar PMID:25741868 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE
OMIM
CTD
ClinVar
PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:28492532 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041
JBrowse link
syndromic X-linked intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISS MouseDO NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: X-linked syndromic intellectual disability ClinVar PMID:22452838 PMID:25741868 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
syndromic X-linked intellectual disability 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628
JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644
JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762
JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115
JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008
JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:17704778 PMID:18414213 PMID:19238151 More... NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023
JBrowse link
syndromic X-linked intellectual disability 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO
ISS
OMIM:304340
ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
syndromic X-linked intellectual disability 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: GRIA3-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94
OMIM
CTD
ClinVar
PMID:17989220 PMID:19022251 PMID:20716669 PMID:24721225 PMID:25326635 More... NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096
JBrowse link
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
G Cul4b cullin 4B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked
OMIM
CTD
ClinVar
PMID:8135271 PMID:10978355 PMID:17236139 PMID:17273978 PMID:18414213 More... NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:115,348,822...115,408,682
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681
JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809
JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682
JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644
JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762
JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115
JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205
JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,031,896...116,034,963
Ensembl chr  X:116,031,803...116,034,967
JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660
JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008
JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023
JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:25385192 PMID:28492532 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692
JBrowse link
syndromic X-linked intellectual disability Claes-Jensen type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type ClinVar PMID:2563148 PMID:25741868 PMID:26235985 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Kdm5c lysine demethylase 5C ISO
ISS
OMIM:300534
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KDM5C-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type
DNA:snp:cds:c.2T>C (human)
OMIM
MouseDO
CTD
ClinVar
RGD
PMID:1605217 PMID:10982473 PMID:15586325 PMID:16538222 PMID:16541399 More... RGD:9587779 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
syndromic X-linked intellectual disability Hedera type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO DNA:missense mutation:cds:p.P353L (human) RGD PMID:12177367 PMID:19605412 RGD:11565831, RGD:11565840 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type
OMIM
CTD
ClinVar
PMID:9536098 PMID:11782983 PMID:15746149 PMID:17576681 PMID:23901204 More... NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Cxhxorf38 similar to human chromosome X open reading frame 38 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,079,016...9,084,696
Ensembl chr  X:9,080,254...9,081,240
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:10,146,274...10,147,145
Ensembl chr  X:10,146,293...10,147,145
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
syndromic X-linked intellectual disability Lubs type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858
JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acot9 acyl-CoA thioesterase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:40,073,197...40,123,573
Ensembl chr  X:40,064,810...40,123,559
JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427
JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457
JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440
JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487
JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,982,399...109,041,265
Ensembl chr  X:108,984,022...109,041,272
JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439
JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Apoo apolipoprotein O ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,157,971...59,262,940
Ensembl chr  X:59,158,049...59,262,940
JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:77,377,723...77,443,672
Ensembl chr  X:77,377,781...77,443,900
JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073
JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:128,780,148...128,787,169
Ensembl chr  X:128,751,900...128,787,161
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513
JBrowse link
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702
JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299
JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552
JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098
JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912
JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,709,921...98,714,347
Ensembl chr  X:98,709,841...98,714,674
JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977
JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,014,485...30,037,808
Ensembl chr  X:29,992,416...30,037,807
JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619
JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268
JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,668,205...65,674,450
Ensembl chr  X:65,668,205...65,674,450
JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,481,676...65,490,562
Ensembl chr  X:65,481,929...65,527,625
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,365,748...33,389,773 JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958
JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,273,270...99,274,799
Ensembl chr  X:99,273,161...99,274,800
JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,131,985...99,133,417
Ensembl chr  X:99,131,942...99,133,531
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,227,251...30,290,015
Ensembl chr  X:30,227,251...30,289,993
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,380,774...107,405,489
Ensembl chr  X:107,380,774...107,405,489
JBrowse link
G Car5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,474,697...30,534,797
Ensembl chr  X:30,474,784...30,533,837
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Cdr1 cerebellar degeneration related 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:139,590,816...139,594,141 JBrowse link
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,326,874...68,335,461
Ensembl chr  X:68,326,874...68,335,461
JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657
JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,769,944...150,774,833
Ensembl chr  X:150,769,953...150,774,919
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573
JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,362,014...68,406,155
Ensembl chr  X:68,361,969...68,437,887
JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943
JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921
JBrowse link
G Chst7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:2,396,260...2,432,828
Ensembl chr  X:2,393,874...2,432,840
JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,350,376...67,355,072
Ensembl chr  X:67,350,373...67,355,162
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838
JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,361,967...30,395,264
Ensembl chr  X:30,361,967...30,395,349
JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,696,999...149,715,051
Ensembl chr  X:149,696,997...149,715,051
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,908,135...37,148,337
Ensembl chr  X:36,907,850...37,150,555
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:81,756,909...81,794,661 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476
JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,651,472...115,655,191
Ensembl chr  X:115,651,482...115,655,188
JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Ctps2 CTP synthase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,645,873...31,786,733
Ensembl chr  X:31,645,873...31,786,733
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cxhxorf38 similar to human chromosome X open reading frame 38 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900
JBrowse link
G Cxhxorf49 similar to human chromosome X open reading frame 49 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,911,430...66,915,407
Ensembl chr  X:66,911,431...66,915,293
JBrowse link
G Cxhxorf58 similar to human chromosome X open reading frame 58 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,101,854...59,157,948
Ensembl chr  X:59,101,845...59,157,865
JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:76,108,111...76,197,431
Ensembl chr  X:76,108,136...76,197,422
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121
JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592
JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905
JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:123,293,761...123,296,550
Ensembl chr  X:123,294,744...123,296,156
JBrowse link
G Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:54,488,494...54,491,514
Ensembl chr  X:54,488,781...54,491,141
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,614,430...65,637,962
Ensembl chr  X:65,614,430...65,637,962
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987
JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869
JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:4,205,486...4,274,939
Ensembl chr  X:4,205,490...4,271,574
JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571
JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182
JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854
JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684
JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:4,488,021...4,488,877
Ensembl chr  X:4,488,021...4,488,877
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268
JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970
JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335
JBrowse link
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,916,513...58,939,923
Ensembl chr  X:58,917,490...58,940,686
JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Enox2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:128,270,941...128,593,074
Ensembl chr  X:128,271,074...128,593,039
JBrowse link
G Eola2 endothelium and lymphocyte associated ASCH domain 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,064,015...149,068,627
Ensembl chr  X:149,064,041...149,068,627
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374
JBrowse link
G Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,245,414...67,261,222
Ensembl chr  X:67,245,414...67,280,756
JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,449,298...100,454,452 JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
JBrowse link
G Fam120c family with sequence similarity 120 member C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,324,046...20,477,831
Ensembl chr  X:20,323,381...20,477,275
JBrowse link
G Fam133a family with sequence similarity 133, member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,762,231...42,763,887
Ensembl chr  X:42,762,229...42,763,883
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:137,276,498...137,800,056
Ensembl chr  X:137,276,511...137,800,391
JBrowse link
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,816,658...70,828,028
Ensembl chr  X:70,817,433...70,878,717
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Fmr1nb FMR1 neighbor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:147,309,613...147,332,426
Ensembl chr  X:147,309,663...147,332,418
JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Foxr2 forkhead box R2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,242,420...18,276,095
Ensembl chr  X:18,244,255...18,245,163
JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771
JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968
JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:49,595,422...49,596,399
Ensembl chr  X:49,595,718...49,596,266
JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030
JBrowse link
G Ftx FTX transcript, XIST regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,588,349...68,630,338 JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:5,083,635...5,100,293
Ensembl chr  X:5,083,617...5,100,284
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,244,745...150,501,566
Ensembl chr  X:150,261,607...150,501,559
JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693
JBrowse link
G Gabrq gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,696,161...150,712,948
Ensembl chr  X:150,696,427...150,709,919
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Gnl3l G protein nucleolar 3 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,961,277...19,994,454
Ensembl chr  X:19,958,603...19,994,508
JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798
JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Gpr119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,852,145...127,858,198
Ensembl chr  X:127,852,145...127,858,198
JBrowse link
G Gpr173 G-protein coupled receptor 173 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,446,261...21,471,119
Ensembl chr  X:21,447,361...21,471,498
JBrowse link
G Gpr174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,355,452...72,396,146
Ensembl chr  X:72,355,033...72,397,658
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,079,016...9,084,696
Ensembl chr  X:9,080,254...9,081,240
JBrowse link
G Gprasp1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,764,853...98,772,685
Ensembl chr  X:98,709,841...98,772,851
JBrowse link
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,817,668...98,823,814
Ensembl chr  X:98,817,593...98,824,402
JBrowse link
G Gprasp3 G protein-coupled receptor associated sorting protein family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,847,591...98,854,949
Ensembl chr  X:98,817,593...98,854,545
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679
JBrowse link
G Grpr gastrin releasing peptide receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,998,425...31,038,442
Ensembl chr  X:30,998,416...31,038,442
JBrowse link
G Gspt2 G1 to S phase transition 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,587,237...59,589,758
Ensembl chr  X:59,587,276...59,594,162
JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,710,356...105,808,183
Ensembl chr  X:105,710,356...105,808,183
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Hdx highly divergent homeobox ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:76,552,539...76,697,177
Ensembl chr  X:76,560,665...76,869,972
JBrowse link
G Heph hephaestin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,151,131...61,402,980
Ensembl chr  X:61,296,345...61,402,980
JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292
JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:74,085,871...74,094,488
Ensembl chr  X:74,085,875...74,094,441
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:130,966,547...131,261,629
Ensembl chr  X:130,968,385...131,261,492
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Hsfx3l heat shock transcription factor family, X-linked member 3 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:146,126,163...146,128,629 JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,025,976...149,046,641
Ensembl chr  X:149,025,976...149,046,663
JBrowse link
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,348,822...115,408,682
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:51,371,969...52,876,726
Ensembl chr  X:51,378,215...52,876,772
JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753
JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823
JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,344,020...105,360,004 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174
JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,753,322...19,790,381
Ensembl chr  X:19,753,625...19,789,500
JBrowse link
G Itm2a integral membrane protein 2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,486,383...72,492,344
Ensembl chr  X:72,486,381...72,492,363
JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,668,873...1,848,781
Ensembl chr  X:1,669,930...1,845,138
JBrowse link
G Jpx JPX transcript, XIST activator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,511,491...68,665,132 JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:105,930,398...105,931,013
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139
JBrowse link
G Klf8 KLF transcription factor 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:17,950,045...18,132,980
Ensembl chr  X:17,958,843...18,133,182
JBrowse link
G Klhl13 kelch-like family member 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:113,942,309...114,107,299
Ensembl chr  X:113,942,309...114,107,321
JBrowse link
G Klhl15 kelch-like family member 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,994,726...59,050,207
Ensembl chr  X:58,995,461...59,046,069
JBrowse link
G Klhl34 kelch-like family member 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,151,298...37,154,053
Ensembl chr  X:37,151,592...37,153,529
JBrowse link
G Klhl4 kelch-like family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:79,429,193...79,719,482
Ensembl chr  X:79,622,113...79,719,480
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,478,499...13,609,934
Ensembl chr  X:13,480,311...13,609,678
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687
JBrowse link
G Ldoc1 LDOC1, regulator of NFKB signaling ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:139,965,509...140,074,355
Ensembl chr  X:139,965,509...140,074,355
JBrowse link
G Lhfpl1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,815,596...108,873,460
Ensembl chr  X:108,815,596...108,873,460
JBrowse link
G LOC100912195 protein BEX1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr 1:110,047,861...110,051,812 JBrowse link
G LOC120099525 small nucleolar RNA SNORA11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,735,030...19,735,144
Ensembl chr  X:19,735,030...19,735,144
JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809
JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,033,486...72,046,978
Ensembl chr  X:72,033,486...72,046,977
JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210
JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,280,490...111,321,363
Ensembl chr  X:111,280,549...111,321,359
JBrowse link
G Magea10 MAGE family member A10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,212,708...150,217,954
Ensembl chr  X:150,213,245...150,214,213
JBrowse link
G Magea9 MAGE family member A9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:142,619,282...142,624,654
Ensembl chr  X:142,619,395...142,624,653
JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,915,789...50,921,863 JBrowse link
G Mageb10 MAGE family member B10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr 1:202,810,079...202,811,086
Ensembl chr 1:202,810,179...202,811,167
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657
JBrowse link
G Mageb18 MAGE family member B18 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,885,991...56,888,245
Ensembl chr  X:56,885,991...56,888,245
JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,827,538...50,833,272
Ensembl chr  X:50,827,563...50,833,151
JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,865,484...50,866,479
Ensembl chr  X:50,865,484...50,866,479
JBrowse link
G Mageb5 MAGE family member B5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,478,928...56,495,736
Ensembl chr  X:56,478,948...56,496,921
JBrowse link
G Mageb6 MAGE family member B6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,493,231...56,494,699
Ensembl chr  X:56,492,713...56,494,541
JBrowse link
G Magec2 MAGE family member C2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:140,610,610...140,615,484
Ensembl chr  X:140,606,825...140,615,471
JBrowse link
G Maged1 MAGE family member D1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,422,715...59,429,381
Ensembl chr  X:59,422,717...59,429,364
JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477
JBrowse link
G Magee1 MAGE family member E1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,189,242...70,192,789
Ensembl chr  X:70,189,187...70,192,810
JBrowse link
G Magee2 MAGE family member E2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,885,751...69,944,824
Ensembl chr  X:69,942,533...69,944,657
JBrowse link
G Mageh1 MAGE family member H1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,350,015...18,351,271
Ensembl chr  X:18,349,774...18,351,516
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807
JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Mbnl3 muscleblind-like splicing regulator 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:130,641,942...130,737,179
Ensembl chr  X:130,648,538...130,737,056
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446
JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, Lubs type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
CTD
OMIM
ClinVar
PMID:1057790 PMID:1105898 PMID:1241840 PMID:2323808 PMID:8177735 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240
JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774
JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,354,692...104,456,757
Ensembl chr  X:104,355,316...104,453,473
JBrowse link
G Mir105 microRNA 105 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,438,529...150,438,601
Ensembl chr  X:150,438,529...150,438,601
JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661
JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167
JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir223 microRNA 223 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mir224 microRNA 224 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169
JBrowse link
G Mir322 microRNA 322 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,806,594...132,806,688
Ensembl chr  X:132,806,594...132,806,688
JBrowse link
G Mir3585 microRNA 3585 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:146,662,031...146,662,148
Ensembl chr  X:146,662,031...146,662,148
JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir503 microRNA 503 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,806,303...132,806,373
Ensembl chr  X:132,806,303...132,806,373
JBrowse link
G Mir509 microRNA 509 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:146,688,132...146,688,216
Ensembl chr  X:146,688,132...146,688,216
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Mir98 microRNA 98 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,981,235...20,981,342
Ensembl chr  X:20,981,235...20,981,342
JBrowse link
G Mirlet7f2 microRNA let-7f-2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,980,632...20,980,714
Ensembl chr  X:20,980,632...20,980,714
JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,408,463...134,420,798
Ensembl chr  X:134,408,466...134,420,729
JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,477,366...103,529,026
Ensembl chr  X:103,480,603...103,528,956
JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728
JBrowse link
G Mospd1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:133,100,200...133,127,960
Ensembl chr  X:133,100,422...133,127,908
Ensembl chr 1:133,100,422...133,127,908
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,146,274...10,147,145
Ensembl chr  X:10,146,293...10,147,145
JBrowse link
G Msn moesin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860
JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Nalf2 NALCN channel auxiliary factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,925,100...64,951,074
Ensembl chr  X:64,925,051...64,951,077
JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666
JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992
JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
JBrowse link
G Nrk Nik related kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:102,365,765...102,462,957
Ensembl chr  X:102,365,765...102,459,657
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Nudt10 nudix hydrolase 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145
JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081
JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,135,953...98,157,117
Ensembl chr  X:98,135,950...98,157,089
JBrowse link
G Nxf3 nuclear RNA export factor 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,025,901...99,050,409
Ensembl chr  X:99,025,901...99,039,261
JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526
JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,855,616...105,862,902
Ensembl chr  X:105,855,608...105,862,899
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146
JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
JBrowse link
G Otud6a OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,514,113...65,516,287
Ensembl chr  X:65,514,191...65,515,063
JBrowse link
G P2ry10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,121,558...72,207,174
Ensembl chr  X:72,111,264...72,212,265
JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,681,680...65,717,404
Ensembl chr  X:65,683,232...65,721,748
JBrowse link
G Pabir2 PABIR family member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,989,124...133,015,625
Ensembl chr  X:132,989,124...133,015,580
JBrowse link
G Pabir3 PABIR family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:133,020,162...133,083,801
Ensembl chr  X:133,020,190...133,083,805
JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:85,637,763...85,641,235
Ensembl chr  X:85,638,574...85,639,722
JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314
JBrowse link
G Pasd1 PAS domain containing repressor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,617,933...149,639,214
Ensembl chr  X:149,620,972...149,638,675
JBrowse link
G Pbdc1 polysaccharide biosynthesis domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,154,106...70,197,827
Ensembl chr  X:70,154,106...70,184,552
JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:86,058,348...86,751,078
Ensembl chr  X:86,058,394...86,747,036
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,378,090...58,471,623
Ensembl chr  X:58,378,116...58,468,935
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,486,699...58,553,533
Ensembl chr  X:58,486,554...58,553,557
JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,718,689...65,721,742
Ensembl chr  X:65,704,067...65,721,642
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682
JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,524,103...20,623,459
Ensembl chr  X:20,524,558...20,623,410
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851
JBrowse link
G Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,232,066...67,238,709
Ensembl chr  X:67,232,081...67,238,702
JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,108,536...30,219,269
Ensembl chr  X:30,108,538...30,219,218
JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,580,938...64,585,846
Ensembl chr  X:64,580,849...64,585,833
JBrowse link
G Plac1 placenta enriched 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,821,347...132,955,143
Ensembl chr  X:132,821,347...132,985,668
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514
JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446
JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839
JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789
JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037
JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:77,683,128...77,749,827
Ensembl chr  X:77,683,128...77,749,688
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536
JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481
JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:75,858,646...75,859,923
Ensembl chr  X:75,858,646...75,859,923
JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prdx4 peroxiredoxin 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:40,026,762...40,044,066
Ensembl chr  X:40,026,651...40,044,066
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:123,978,010...123,979,928
Ensembl chr  X:123,977,985...123,979,942
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,494,256...42,606,612
Ensembl chr  X:42,494,256...42,606,588
JBrowse link
G Prrg3 proline rich and Gla domain 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,666,498...149,689,353
Ensembl chr  X:149,670,257...149,677,373
JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,656,809...104,665,122
Ensembl chr  X:104,656,812...104,665,097
JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:39,681,910...39,733,416
Ensembl chr  X:39,681,910...39,733,519
JBrowse link
G Pwwp3b PWWP domain containing 3B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:102,804,416...102,838,580
Ensembl chr  X:102,804,520...102,838,574
JBrowse link
G Pwwp4 PWWP domain containing 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:151,008,141...151,014,223
Ensembl chr  X:151,008,123...151,014,216
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Radx RPA1 related single stranded DNA binding protein, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,089,284...103,176,840
Ensembl chr  X:103,089,284...103,176,838
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264
JBrowse link
G Rap2c RAP2C, member of RAS oncogene family ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:130,504,554...130,517,671
Ensembl chr  X:130,504,698...130,518,328
JBrowse link
G Rbbp7 RB binding protein 7, chromatin remodeling factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,913,080...31,931,245
Ensembl chr  X:31,913,081...31,931,226
JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580
JBrowse link
G Rbm41 RNA binding motif protein 41 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,605,732...103,660,381
Ensembl chr  X:103,608,585...103,660,381
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Rbmx2 RNA binding motif protein, X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,888,514...127,896,239
Ensembl chr  X:127,888,438...127,896,869
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Reps2 RALBP1 associated Eps domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:32,049,455...32,322,317
Ensembl chr  X:32,049,399...32,317,414
JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,619,030...1,634,456
Ensembl chr  X:1,619,032...1,634,450
JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644
JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870
JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,091,717...21,103,688
Ensembl chr  X:21,091,717...21,103,200
JBrowse link
G Ripply1 ripply transcriptional repressor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,436,731...103,440,904
Ensembl chr  X:103,436,729...103,443,349
JBrowse link
G Rlim ring finger protein, LIM domain interacting ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,983,259...69,004,368
Ensembl chr  X:68,988,375...69,004,271
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762
JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,183,643...103,298,431
Ensembl chr  X:103,183,831...103,298,423
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
JBrowse link
G Rps4x ribosomal protein S4, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,298,522...67,302,965
Ensembl chr  X:67,298,525...67,303,019
Ensembl chr 4:67,298,525...67,303,019
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
JBrowse link
G Rps6ka6 ribosomal protein S6 kinase A6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:76,353,316...76,454,502
Ensembl chr  X:76,353,760...76,454,484
JBrowse link
G RragB Ras-related GTP binding B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,184,619...18,234,639
Ensembl chr  X:18,184,992...18,234,639
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Rtl3 retrotransposon Gag like 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,947,343...71,951,008
Ensembl chr  X:71,948,253...71,950,121
JBrowse link
G Rtl4 retrotransposon Gag like 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,231,052...108,641,768
Ensembl chr  X:108,633,651...108,640,050
JBrowse link
G Rtl5 retrotransposon Gag like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,183,948...67,188,747
Ensembl chr  X:67,184,154...67,188,809
JBrowse link
G Rtl8a retrotransposon Gag like 8A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:133,414,027...133,415,240
Ensembl chr  X:133,414,030...133,415,240
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794
JBrowse link
G S100g S100 calcium binding protein G ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,705,853...31,708,422
Ensembl chr  X:31,705,866...31,708,433
JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,326,815...127,341,521
Ensembl chr  X:127,326,859...127,341,519
JBrowse link
G Sat1 spermidine/spermine N1-acetyl transferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:40,158,354...40,161,641
Ensembl chr  X:40,157,046...40,196,813
JBrowse link
G Satl1 spermidine/spermine N1-acetyl transferase-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:77,453,357...77,469,100
Ensembl chr  X:77,453,357...77,469,158
JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742
JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115
JBrowse link
G Serpina7 serpin family A member 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040
JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Sh3bgrl1 SH3 domain binding glutamate rich protein like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:74,167,029...74,263,783
Ensembl chr  X:74,166,871...74,263,783
JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
G Slc25a14 solute carrier family 25 member 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,807,630...127,845,823
Ensembl chr  X:127,807,449...127,845,823
JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205
JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,031,896...116,034,963
Ensembl chr  X:116,031,803...116,034,967
JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,213,727...14,222,498
Ensembl chr  X:14,213,729...14,222,498
JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,210,071...66,216,482
Ensembl chr  X:66,210,081...66,215,708
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012
JBrowse link
G Slitrk2 SLIT and NTRK-like family, member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:145,246,448...145,259,983
Ensembl chr  X:145,246,460...145,271,220
JBrowse link
G Slitrk4 SLIT and NTRK-like family, member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:142,706,495...142,718,968
Ensembl chr  X:142,706,338...142,718,575
JBrowse link
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link
G Smim10 small integral membrane protein 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,233,209...37,292,266
Ensembl chr  X:37,234,294...37,276,708
JBrowse link
G Sms spermine synthase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,516,949...37,572,657
Ensembl chr  X:37,516,931...37,570,822
JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,226,995...66,356,945
Ensembl chr  X:66,227,053...66,356,950
JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678
JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:918,817...922,000
Ensembl chr  X:918,817...922,049
JBrowse link
G Spin2a spindlin family member 2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:17,511,018...17,513,001
Ensembl chr  X:17,511,022...17,513,001
JBrowse link
G Spin2b spindlin family member 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:17,190,573...17,192,351
Ensembl chr  X:17,180,474...17,192,351
JBrowse link
G Spin4 spindlin family, member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,888,728...59,892,817
Ensembl chr  X:59,891,581...59,892,330
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,931,433...13,939,732
Ensembl chr  X:13,931,470...13,939,720
JBrowse link
G Ssx2 SSX family member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:698,867...715,891
Ensembl chr  X:698,882...715,907
JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677
JBrowse link
G Stard8 StAR-related lipid transfer domain containing 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,079,079...64,196,052
Ensembl chr  X:64,124,574...64,196,052
JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159
JBrowse link
G Stk26 serine/threonine kinase 26 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:130,325,064...130,375,674
Ensembl chr  X:130,310,885...130,374,291
JBrowse link
G Supt20hl1 Supt20h like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,708,504...58,758,962
Ensembl chr  X:58,708,504...58,758,960
JBrowse link
G Supt20hl2 SUPT20H like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,645,548...58,653,436
Ensembl chr  X:58,646,432...58,649,965
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982
JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Syap1 synapse associated protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,792,180...31,826,672
Ensembl chr  X:31,792,193...31,826,667
JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396
JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:49,972,414...50,044,658
Ensembl chr  X:49,972,330...50,042,056
JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543
JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023
JBrowse link
G Taf9b TATA-box binding protein associated factor 9b ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,289,290...71,300,142
Ensembl chr  X:71,289,290...71,300,604
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,403,962...50,423,141
Ensembl chr  X:50,361,248...50,423,269
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275
JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133
JBrowse link
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654
JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353
JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543
JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710
JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763
JBrowse link
G Tcp11x2 t-complex 11 family, X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,591,191...98,640,800
Ensembl chr  X:98,591,189...98,640,763
JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:121,400,466...122,289,877
Ensembl chr  X:121,403,649...122,290,207
JBrowse link
G Tent5d terminal nucleotidyltransferase 5D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,901,287...72,974,562
Ensembl chr  X:72,901,241...72,970,573
JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187
JBrowse link
G Tex13a testis expressed 13A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:101,598,992...101,601,951
Ensembl chr  X:101,600,495...101,601,933
JBrowse link
G Tex13b testis expressed 13B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,490,937...104,511,224
Ensembl chr  X:104,490,091...104,494,201
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571
JBrowse link
G Tgif2lx2 TGFB-induced factor homeobox 2-like, X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:84,109,203...84,110,264
Ensembl chr  X:84,109,220...84,110,274
JBrowse link
G Thoc2 THO complex subunit 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:120,634,966...120,749,569
Ensembl chr  X:120,634,968...120,749,513
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,288,019...106,448,642
Ensembl chr  X:106,289,371...106,448,640
JBrowse link
G Tmem185a transmembrane protein 185A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,143,026...149,167,757
Ensembl chr  X:149,143,031...149,167,757
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008
JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:45,421,405...45,447,900
Ensembl chr  X:45,421,405...45,447,900
JBrowse link
G Tmsb15b2 thymosin beta 15B2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,298,705...100,300,820
Ensembl chr  X:100,298,514...100,300,886
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634
JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479
JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tro trophinin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,563,395...19,574,507
Ensembl chr  X:19,563,517...19,572,953
JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,946,163...108,230,991
Ensembl chr  X:107,939,131...108,230,991
JBrowse link
G Trpc5os TRPC5 opposite strand ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,025,172...108,044,201
Ensembl chr  X:108,024,924...108,046,581
JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,217,898...104,277,886
Ensembl chr  X:104,217,925...104,276,861
JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309
JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,208,783...12,306,092
Ensembl chr  X:12,208,783...12,306,131
JBrowse link
G Tspyl2 TSPY-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,439,478...21,445,208
Ensembl chr  X:21,439,478...21,445,089
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
G Txlng taxilin gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,864,111...31,912,931
Ensembl chr  X:31,864,111...31,912,926
JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636
JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236
JBrowse link
G Uprt uracil phosphoribosyltransferase homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,516,573...69,546,811
Ensembl chr  X:69,516,738...69,546,797
JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520
JBrowse link
G Usp26 ubiquitin specific peptidase 26 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:131,317,200...131,363,964
Ensembl chr  X:131,319,194...131,363,970
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
G Usp51 ubiquitin specific peptidase 51 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,374,940...18,381,472
Ensembl chr  X:18,376,930...18,379,888
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
G Utp14a UTP14A small subunit processome component ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,439,282...127,464,634
Ensembl chr  X:127,439,268...127,464,633
JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,126,110...1,138,670
Ensembl chr  X:1,126,162...1,138,663
JBrowse link
G Vcf2 VCP nuclear cofactor family member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,310,182...19,393,156
Ensembl chr  X:19,349,560...19,378,486
JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,073,122...30,108,413
Ensembl chr  X:30,074,163...30,108,295
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,491,709...149,501,010
Ensembl chr  X:149,491,738...149,499,272
JBrowse link
G Vsig1 V-set and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,607,031...104,640,128
Ensembl chr  X:104,607,031...104,639,249
JBrowse link
G Vsig4 V-set and immunoglobulin domain containing 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,144,926...61,170,212
Ensembl chr  X:61,144,928...61,170,212
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,362,484...14,373,727
Ensembl chr  X:14,362,860...14,373,727
JBrowse link
G Wdr44 WD repeat domain 44 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:114,481,890...114,587,307
Ensembl chr  X:114,482,006...114,587,224
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
G Wnk3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,156,260...20,299,252
Ensembl chr  X:20,157,041...20,296,821
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700
JBrowse link
G Xist X inactive specific transcript ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,474,987...68,492,500 JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830
JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223
JBrowse link
G Yipf6 Yip1 domain family, member 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,039,602...64,051,715
Ensembl chr  X:64,040,952...64,054,702
JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,438,425...37,442,047
Ensembl chr  X:37,410,811...37,464,430
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023
JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692
JBrowse link
G Zcchc13 zinc finger CCHC-type containing 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,643,568...68,644,671
Ensembl chr  X:68,643,549...68,665,131
JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756
JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,352,340...127,388,245
Ensembl chr  X:127,352,345...127,388,245
JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:927,439...1,001,474
Ensembl chr  X:899,439...1,000,954
JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810
JBrowse link
G Zfp275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:151,057,530...151,074,392
Ensembl chr  X:151,057,573...151,074,276
JBrowse link
G Zfp280c zinc finger protein 280C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,716,403...127,807,600
Ensembl chr  X:127,717,983...127,779,825
JBrowse link
G Zfp449 zinc finger protein 449 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,120,820...134,140,921
Ensembl chr  X:134,122,636...134,140,924
JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:77,646,300...77,679,398
Ensembl chr  X:77,646,558...77,678,045
JBrowse link
G Zfp75d zinc finger protein 75D ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,035,116...134,053,765
Ensembl chr  X:134,036,143...134,051,519
JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177
JBrowse link
G Zfx zinc finger protein X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,804,690...58,853,155
Ensembl chr  X:58,804,691...58,853,265
JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
G Zmat1 zinc finger, matrin-type 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,168,388...98,199,415
Ensembl chr  X:98,168,456...98,199,733
JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,528,585...66,544,234
Ensembl chr  X:66,528,585...66,544,782
JBrowse link
G Znf81L zinc finger protein 81 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102
JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,547,424...30,571,613
Ensembl chr  X:30,547,536...30,570,125
JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,760,871...59,766,010
Ensembl chr  X:59,763,210...59,765,903
JBrowse link
G Zxdb zinc finger, X-linked, duplicated B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,700,765...59,706,737
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871
JBrowse link
syndromic X-linked intellectual disability Najm type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Cxhxorf38 similar to human chromosome X open reading frame 38 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:9,079,016...9,084,696
Ensembl chr  X:9,080,254...9,081,240
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type ClinVar PMID:1301956 PMID:9654205 PMID:9974426 PMID:11139254 PMID:11317361 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:10,146,274...10,147,145
Ensembl chr  X:10,146,293...10,147,145
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked ClinVar PMID:23901204 PMID:28492532 NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
syndromic X-linked intellectual disability Nascimento type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16909393 PMID:20412111 PMID:25741868 PMID:32415735 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070
JBrowse link
syndromic X-linked intellectual disability Pilorge type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type ClinVar PMID:20479760 PMID:25741868 PMID:28588452 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192
JBrowse link
G Glra2 glycine receptor, alpha 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type OMIM
ClinVar
PMID:20479760 PMID:25741868 PMID:26370147 PMID:28588452 PMID:35294868 NCBI chr  X:29,020,377...29,241,666
Ensembl chr  X:29,020,557...29,241,666
JBrowse link
syndromic X-linked intellectual disability Raymond type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087
JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362
JBrowse link
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 NCBI chr  X:127,326,815...127,341,521
Ensembl chr  X:127,326,859...127,341,519
JBrowse link
G Utp14a UTP14A small subunit processome component ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:24357419 PMID:28492532 NCBI chr  X:127,439,282...127,464,634
Ensembl chr  X:127,439,268...127,464,633
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type ClinVar PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532 NCBI chr  X:127,287,765...127,317,036
Ensembl chr  X:127,287,979...127,317,223
JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO
ISS
OMIM:300799
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:17436253 PMID:17576681 PMID:19377476 PMID:22796527 More... NCBI chr  X:127,352,340...127,388,245
Ensembl chr  X:127,352,345...127,388,245
JBrowse link
syndromic X-linked intellectual disability Shashi type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type
OMIM
CTD
ClinVar
PMID:10677307 PMID:25256757 PMID:25741868 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
syndromic X-linked intellectual disability Siderius type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf8 PHD finger protein 8 ISO
ISS
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type
OMIM:300263
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:10398231 PMID:16199551 PMID:17594395 PMID:17661819 PMID:25741868 More... NCBI chr  X:20,524,103...20,623,459
Ensembl chr  X:20,524,558...20,623,410
JBrowse link
syndromic X-linked intellectual disability Snyder type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sms spermine synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type
OMIM
CTD
ClinVar
PMID:5823961 PMID:14508504 PMID:18550699 PMID:19206178 PMID:19377476 More... NCBI chr  X:37,516,949...37,572,657
Ensembl chr  X:37,516,931...37,570,822
JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 More... NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
syndromic X-linked intellectual disability type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10521307 PMID:11102558 PMID:12112118 PMID:12555940 PMID:12696021 More... NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
syndromic X-linked intellectual disorder Lujan-Fryns-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.N1007S(human)
OMIM
ClinVar
CTD
RGD
PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 More... RGD:12910949 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
Syndromic X-Linked Mental Retardation 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf1 TATA-box binding protein associated factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26637982 PMID:28492532 More... NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543
JBrowse link
syndromic X-linked mental retardation 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl10 ribosomal protein L10 susceptibility ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 ClinVar
OMIM
PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
syndromic X-linked mental retardation Hough type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE OMIM
ClinVar
PMID:25223753 PMID:25644381 PMID:25741868 PMID:28098945 PMID:28492532 NCBI chr  X:36,908,135...37,148,337
Ensembl chr  X:36,907,850...37,150,555
JBrowse link
Tonne-Kalscheuer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlim ring finger protein, LIM domain interacting ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RLIM-related syndromic intellectual disability | ClinVar Annotator: match by term: TONNE-KALSCHEUER SYNDROME
OMIM
CTD
ClinVar
PMID:25644381 PMID:25735484 PMID:25741868 PMID:29728705 PMID:29742418 NCBI chr  X:68,983,259...69,004,368
Ensembl chr  X:68,988,375...69,004,271
JBrowse link
Van Esch-O'Driscoll syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 More... NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536
JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar
PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilson-Turner syndrome
OMIM
CTD
ClinVar
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687
JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832
JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
JBrowse link
X-linked Aarskog syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition
DNA:deletion:cds:c.2189delA (human)
DNA:nonsense mutation:cds:p.W447X (human)
DNA:mutations:multiple (human)
DNA:insertion:cds:c.2121_2122insG (human)
OMIM
ClinVar
RGD
PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 More... RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: FGD1-related condition ClinVar PMID:25741868 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
X-linked intellectual developmental disorder 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30335141 NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012
JBrowse link
X-linked intellectual developmental disorder 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 OMIM
ClinVar
PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 More... NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 ClinVar PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 More... NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
X-Linked Intellectual Developmental Disorder 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 110 OMIM
ClinVar
PMID:34184986 NCBI chr  X:137,276,498...137,800,056
Ensembl chr  X:137,276,511...137,800,391
JBrowse link
X-Linked Intellectual Developmental Disorder 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 112 | ClinVar Annotator: match by term: ZMYM3-related condition OMIM
ClinVar
PMID:24721225 PMID:25741868 PMID:36586412 NCBI chr  X:66,528,585...66,544,234
Ensembl chr  X:66,528,585...66,544,782
JBrowse link
X-Linked Intellectual Developmental Disorder 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstf2 cleavage stimulation factor subunit 2 ISO OMIM NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476
JBrowse link
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic2 chloride intracellular channel 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
OMIM
CTD
ClinVar
PMID:21630357 PMID:22814392 PMID:25741868 NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
JBrowse link
X-linked intellectual disability-psychosis-macroorchidism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome
CTD
OMIM
ClinVar
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
X-linked intellectual disability-short stature-overweight syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome ClinVar PMID:19471582 PMID:22995991 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
JBrowse link
G Thoc2 THO complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome
OMIM
CTD
ClinVar
PMID:1605217 PMID:8825049 PMID:25741868 PMID:26166480 PMID:28492532 NCBI chr  X:120,634,966...120,749,569
Ensembl chr  X:120,634,968...120,749,513
JBrowse link
X-linked lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation OMIM
ClinVar
PMID:9489699 PMID:9489700 PMID:9618162 PMID:10369164 PMID:10749977 More... NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
X-linked lissencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia
DNA:mutations:multiple (human)
OMIM
CTD
ClinVar
RGD
PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... RGD:11565832 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X-linked ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 60 | ClinVar Annotator: match by term: OPHN1-related condition
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:p.T214fs34* (human)
DNA:deletion:exon, intron
DNA:duplication:exon: c.1385insAAGAATTC (human)
DNA:deletion:exon 7:r.487_597del (c.781_891del) (human)
OMIM
ClinVar
CTD
RGD
PMID:9582072 PMID:10818214 PMID:12807966 PMID:16199547 PMID:16221952 More... RGD:13207450, RGD:13207446, RGD:13207445, RGD:13207444, RGD:13207443 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633
JBrowse link
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678
JBrowse link
X-linked mental retardation-hypotonic facies syndrome-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1
DNA:mutation:exon:c. 6740A>C (p.H224P)(human)
DNA:nonsense mutation:exon:324C>T (p.R37X) (human)
DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human)
OMIM
CTD
ClinVar
RGD
PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... RGD:13442490, RGD:11040909, RGD:1599406 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:25741868 NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Neurodevelopmental Disorders 6821
        intellectual disability 4281
          X-Linked Intellectual Developmental Disorders 810
            Aldred Syndrome 0
            Allan-Herndon-Dudley syndrome 1
            Arena Syndrome 0
            Atkin Syndrome 8
            CK syndrome 1
            Charcot-Marie-Tooth disease X-linked recessive 4 2
            Chromosome Xp11.3 Deletion Syndrome 0
            Classical Lissencephalies and Subcortical Band Heterotopias + 6
            Coffin-Lowry syndrome 17
            Danon disease 13
            FG syndrome + 14
            Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 0
            INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE 3
            INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM 1
            Lesch-Nyhan syndrome + 2
            Menkes disease + 8
            Mental Retardation X-Linked, South African Type 0
            Mental Retardation, X-Linked, Syp-Related 0
            Plagiocephaly and X-Linked Mental Retardation 0
            Rett syndrome + 36
            Roifman Syndrome 1
            Tranebjaerg Svejgaard syndrome 0
            Wittwer Syndrome 5
            X-Linked Intellectual Developmental Disorder 95 0
            X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
            adrenoleukodystrophy + 136
            alpha thalassemia-X-linked intellectual disability syndrome 6
            cerebral creatine deficiency syndrome 1 60
            fragile X syndrome + 16
            methylmalonic acidemia and homocysteinemia cblX type 11
            mucopolysaccharidosis II 2
            non-syndromic X-linked intellectual disability + 45
            pyruvate decarboxylase deficiency + 56
            severe congenital encephalopathy due to MECP2 mutation 34
            syndromic X-linked intellectual disability + 621
            syndromic microphthalmia 1 2
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            disease of mental health 8291
              developmental disorder of mental health 5529
                specific developmental disorder 4490
                  intellectual disability 4281
                    X-Linked Intellectual Developmental Disorders 810
                      Aldred Syndrome 0
                      Allan-Herndon-Dudley syndrome 1
                      Arena Syndrome 0
                      Atkin Syndrome 8
                      CK syndrome 1
                      Charcot-Marie-Tooth disease X-linked recessive 4 2
                      Chromosome Xp11.3 Deletion Syndrome 0
                      Classical Lissencephalies and Subcortical Band Heterotopias + 6
                      Coffin-Lowry syndrome 17
                      Danon disease 13
                      FG syndrome + 14
                      Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 0
                      INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE 3
                      INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM 1
                      Lesch-Nyhan syndrome + 2
                      Menkes disease + 8
                      Mental Retardation X-Linked, South African Type 0
                      Mental Retardation, X-Linked, Syp-Related 0
                      Plagiocephaly and X-Linked Mental Retardation 0
                      Rett syndrome + 36
                      Roifman Syndrome 1
                      Tranebjaerg Svejgaard syndrome 0
                      Wittwer Syndrome 5
                      X-Linked Intellectual Developmental Disorder 95 0
                      X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
                      adrenoleukodystrophy + 136
                      alpha thalassemia-X-linked intellectual disability syndrome 6
                      cerebral creatine deficiency syndrome 1 60
                      fragile X syndrome + 16
                      methylmalonic acidemia and homocysteinemia cblX type 11
                      mucopolysaccharidosis II 2
                      non-syndromic X-linked intellectual disability + 45
                      pyruvate decarboxylase deficiency + 56
                      severe congenital encephalopathy due to MECP2 mutation 34
                      syndromic X-linked intellectual disability + 621
                      syndromic microphthalmia 1 2
paths to the root