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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:syndromic intellectual disability
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Accession:DOID:0050888 term browser browse the term
Definition:An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO)
Synonyms:primary_id: RDO:9003344
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
syndromic intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:32220291 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047 		JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISS OMIM:300486 | OMIM:300860 | OMIM:309583 MouseDO NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857 		JBrowse link
G Fam160b1 family with sequence similarity 160, member B1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:278,198,181...278,224,365
Ensembl chr 1:278,198,179...278,221,686 		JBrowse link
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:27900362 PMID:28708303 NCBI chr 8:90,343,307...90,360,085
Ensembl chr 8:90,343,154...90,360,086 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:26467025 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25728777 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:26467025 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517 		JBrowse link
G Ophn1 oligophrenin 1 ISS OMIM:300486 | OMIM:300860 | OMIM:309583 MouseDO NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:27900362 PMID:28708303 NCBI chr 8:90,387,339...90,483,964
Ensembl chr 8:90,392,143...90,483,077 		JBrowse link
G Pth2r parathyroid hormone 2 receptor ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 9:72,052,966...72,158,343
Ensembl chr 9:72,052,966...72,157,773 		JBrowse link
G Syt1 synaptotagmin 1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:30107533 NCBI chr 7:50,084,063...50,638,996
Ensembl chr 7:50,084,060...50,638,798 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:11295558 PMID:25558065 PMID:25574841 PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637 		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 ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE
ClinVar Annotator: match by term: Adrenomyeloneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300100
ClinVar Annotator: match by null		 ClinVar
CTD
OMIM		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 PMID:7581394 PMID:7668254 PMID:7677014 PMID:7717396 PMID:7811247 PMID:7825602 PMID:7849718 PMID:7849723 PMID:7860075 PMID:7894167 PMID:7904210 PMID:7998779 PMID:8040304 PMID:8048932 PMID:8353949 PMID:8441467 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9425230 PMID:9452087 PMID:9553942 PMID:9556301 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11102997 PMID:11220738 PMID:11248239 PMID:11310629 PMID:11330045 PMID:11336405 PMID:11438993 PMID:11739809 PMID:11748843 PMID:11798073 PMID:11810273 PMID:12175782 PMID:12530690 PMID:12624723 PMID:12913200 PMID:14713218 PMID:14767898 PMID:15032602 PMID:15192815 PMID:15284851 PMID:15333254 PMID:15388659 PMID:15564782 PMID:15643618 PMID:15800013 PMID:15811009 PMID:15812458 PMID:15878823 PMID:16018167 PMID:16023551 PMID:16087056 PMID:16319717 PMID:16401743 PMID:16415970 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17285533 PMID:17498713 PMID:17504626 PMID:17542813 PMID:17602313 PMID:17990484 PMID:18206987 PMID:18306728 PMID:18973459 PMID:19129531 PMID:19496984 PMID:19660195 PMID:19963315 PMID:20008255 PMID:20195870 PMID:20301491 PMID:20455653 PMID:20626745 PMID:20661612 PMID:20800589 PMID:20849526 PMID:20859061 PMID:21068741 PMID:21300044 PMID:21476988 PMID:21478203 PMID:21488864 PMID:21586746 PMID:21700483 PMID:21889498 PMID:21907609 PMID:21966424 PMID:22057157 PMID:22176151 PMID:22198747 PMID:22280810 PMID:22366764 PMID:22479560 PMID:22483867 PMID:22914231 PMID:23009600 PMID:23154058 PMID:23300730 PMID:23419472 PMID:23430809 PMID:23469258 PMID:23566833 PMID:23566848 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23926373 PMID:24154795 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24788897 PMID:25275259 PMID:25324868 PMID:25741868 PMID:26227820 PMID:26260157 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26523528 PMID:26609365 PMID:27067449 PMID:27084228 PMID:27766264 PMID:27779215 PMID:28456143 PMID:28492532 PMID:28503596 PMID:28953922 PMID:29056270 PMID:29284317 PMID:29443243 PMID:30311386 PMID:30544401 PMID:30564185 PMID:30902905 PMID:31074578 PMID:32207279, PMID:8048932 RGD:1598655 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:59,184,111...59,240,133
Ensembl chr 8:59,184,113...59,239,954 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:148,421,627...148,422,921
Ensembl chr  X:148,421,627...148,422,921 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,319,687...156,328,974
Ensembl chr  X:156,319,687...156,328,309 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Mpp1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr 1:148,450,213...148,458,945 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,335,385...156,340,256
Ensembl chr  X:156,336,450...156,340,234 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650 		JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,340,919...156,343,771
Ensembl chr  X:156,340,925...156,343,777 		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 ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar Annotator: match by OMIM:300523		 OMIM
ClinVar		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15889350 PMID:15980113 PMID:18187543 PMID:18414213 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25527620 PMID:25741868 PMID:27212794 PMID:28492532 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214 		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 Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
ClinVar Annotator: match by term: XLMR hypotonic face syndrome
ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
ClinVar Annotator: match by term: ATR-X syndrome
ClinVar Annotator: match by OMIM:301040
ClinVar Annotator: match by null
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		 PMID:3239563 PMID:3658675 PMID:6682021 PMID:7506096 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9598720 PMID:10204841 PMID:10417298 PMID:10632111 PMID:10995512 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16763962 PMID:16813605 PMID:16955409 PMID:17579672 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21505078 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24327140 PMID:24728327 PMID:24759409 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29304373 PMID:29602769 PMID:29910053 PMID:31130284, PMID:24289169, PMID:24327140, PMID:24805811 RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878 		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 ClinVar Annotator: match by term: Armfield X-linked mental retardation syndrome OMIM
ClinVar		 PMID:10398235 PMID:25741868 PMID:32703943 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760 		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 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome
ClinVar Annotator: match by OMIM:301835		 OMIM
ClinVar		 PMID:8498830 PMID:17701896 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:28492532 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266 		JBrowse link
Atkin Syndrome 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: Mental retardation, X-linked, nonspecific
ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type		 ClinVar PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9628581 PMID:15197169 PMID:15669143 PMID:18414213 PMID:20473311 PMID:23020937 PMID:23674175 PMID:23934111 PMID:24306141 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26733290 PMID:26793055 PMID:26795593 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type ClinVar PMID:20400964 PMID:21990120 PMID:22006311 PMID:22538716 PMID:24139550 PMID:24315737 PMID:24549055 PMID:24800917 PMID:25452441 PMID:25741868 PMID:26261251 PMID:26681312 PMID:28123851 PMID:28152038 PMID:28492532 PMID:28905878 PMID:29053726 PMID:29255180 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472 		JBrowse link
autosomal dominant mental retardation 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES ClinVar
OMIM		 PMID:25066056 PMID:25741868 PMID:28492532 PMID:29100083 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010 		JBrowse link
autosomal dominant mental retardation 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 ClinVar
OMIM		 PMID:25741868 PMID:28135719 PMID:29100083 NCBI chr10:74,014,560...74,070,578
Ensembl chr10:74,014,562...74,070,266 		JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 ClinVar PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:22243262 PMID:23355523 PMID:23625376 PMID:25741868 PMID:26124219 NCBI chr 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 ClinVar PMID:25741868 NCBI chr10:74,002,151...74,012,182
Ensembl chr10:74,002,151...74,012,159 		JBrowse link
autosomal recessive intellectual developmental disorder-72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mettl5 methyltransferase like 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 ClinVar
OMIM		 PMID:25741868 PMID:31564433 NCBI chr 3:56,101,597...56,113,823
Ensembl chr 3:56,101,580...56,113,857 		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
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 36		 OMIM
ClinVar		 PMID:25741868 PMID:30224647 NCBI chr  X:27,015,826...27,033,562
Ensembl chr  X:27,015,884...27,033,555 		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 ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome
ClinVar Annotator: match by OMIM:301900
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24728327 PMID:25741868 PMID:25741869 PMID:27633282 PMID:28492532 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838 		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: Cowchock syndrome
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA		 OMIM
ClinVar		 PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation
ClinVar Annotator: match by term: Cowchock syndrome
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA		 ClinVar PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203 		JBrowse link
Christianson syndrome 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: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711 		JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885 		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 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome
ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
ClinVar Annotator: match by OMIM:300243		 OMIM
ClinVar		 PMID:10528855 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:30311386 PMID:32581362 PMID:32860008 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044 		JBrowse link
chromosome Xp11.22 duplication 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 OMIM NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241 		JBrowse link
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp2 RP2 activator of ARL3 GTPase ISO OMIM NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656 		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 OMIM:300831 OMIM
ClinVar		 PMID:19377476 PMID:21129721 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390 		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 ClinVar Annotator: match by term: Lissencephaly, X-linked
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by OMIM:300067		 OMIM
ClinVar		 PMID:9489699 PMID:9489700 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 PMID:29706646 PMID:32238909, PMID:11071144, PMID:12838518, PMID:27292316 RGD:12904735, RGD:12904728, RGD:11568595 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar Annotator: match by term: Lissencephaly classic		 ClinVar PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412 		JBrowse link
Coffin-Lowry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Coffin-Lowry syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:303600
ClinVar Annotator: match by null		 OMIM
ClinVar
CTD		 PMID:5581017 PMID:8955270 PMID:9837815 PMID:9887375 PMID:10094187 PMID:10528858 PMID:11180593 PMID:11992250 PMID:12439904 PMID:12558110 PMID:14986828 PMID:15214012 PMID:16306095 PMID:16879200 PMID:17717706 PMID:19377476 PMID:19888300 PMID:21488662 PMID:25044551 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624 		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 ClinVar Annotator: match by OMIM:300472 OMIM
ClinVar		 PMID:14556245 NCBI chr  X:70,322,764...70,345,005
Ensembl chr  X:70,322,755...70,345,005 		JBrowse link
creatine transporter deficiency 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:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine transporter deficiency
ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency
ClinVar Annotator: match by term: Creatine deficiency, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300352		 OMIM
ClinVar
CTD		 PMID:11326334 PMID:11898126 PMID:12210795 PMID:12536364 PMID:12544242 PMID:15154114 PMID:16086185 PMID:16738945 PMID:17101918 PMID:17465020 PMID:18047645 PMID:18414213 PMID:19188083 PMID:20717164 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22659343 PMID:23408511 PMID:23660394 PMID:25326635 PMID:25741868 PMID:25803912 PMID:25861866 PMID:26467025 PMID:28492532 PMID:29429461 PMID:31222513 PMID:32860008 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650 		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:123,773,430...123,788,898
Ensembl chr  X:123,773,430...123,788,898 		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:124,631,544...124,652,520
Ensembl chr  X:124,631,881...124,652,975 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
IMP		 ClinVar Annotator: match by term: Danon disease
ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb
in hemizygote mutant male (LAMP2y/-)
ClinVar Annotator: match by OMIM:300257		 OMIM
ClinVar		 PMID:3087571 PMID:6408499 PMID:6450334 PMID:7919972 PMID:8504498 PMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15792868 PMID:15889279 PMID:15907287 PMID:16190986 PMID:16217705 PMID:16565504 PMID:17899313 PMID:18061453 PMID:18282207 PMID:18312451 PMID:18555174 PMID:18990578 PMID:19318653 PMID:19373884 PMID:19533775 PMID:20173215 PMID:20445193 PMID:20960602 PMID:21070164 PMID:21415759 PMID:21520333 PMID:21896538 PMID:22074992 PMID:22695892 PMID:23168931 PMID:23785128 PMID:24033266 PMID:24503780 PMID:25091525 PMID:25326635 PMID:25458169 PMID:25741868 PMID:25826782 PMID:26748608 PMID:27066507 PMID:27179547 PMID:27532257 PMID:27600940 PMID:27678261 PMID:28492532 PMID:28771489 PMID:29753918 PMID:29915097, PMID:29720683 RGD:13703117 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G LOC100364002 reproductive homeobox 9-like ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,999,683...124,002,081
Ensembl chr  X:123,999,683...124,002,073 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,751,196...123,770,595
Ensembl chr  X:123,751,089...123,770,595 		JBrowse link
G Rhox10 reproductive homeobox 10 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,207,017...124,211,455
Ensembl chr  X:124,207,017...124,211,455 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,806,922...123,808,049
Ensembl chr  X:124,516,949...124,518,077 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,400,686...124,465,156
Ensembl chr  X:124,328,735...124,465,110 		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:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385 		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:124,319,299...124,326,506
Ensembl chr  X:124,321,551...124,323,960 		JBrowse link
developmental delay and seizures with or without movement abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES ClinVar
OMIM		 PMID:25741868 PMID:29100083 NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677 		JBrowse link
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 severity ISO ClinVar Annotator: match by OMIM:300672
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:		 ClinVar
OMIM		 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30311386 PMID:30776697 PMID:31791873, PMID:22678952 RGD:12791015 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2		 ClinVar PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203 PMID:30311386 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:34,676,728...34,694,251 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164 		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 ClinVar Annotator: match by OMIM:300968
ClinVar Annotator: match by term: Mental retardation, X-linked 99, syndromic, female-restricted		 ClinVar
OMIM		 PMID:25741868 PMID:26833328 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297 		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 PMID:19200522 RGD:11576290 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)		 CTD
ClinVar		 PMID:10982179 PMID:17334363 PMID:18414213 PMID:23757202 PMID:24728327 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26813965 PMID:28492532 PMID:30311386, PMID:17334363, PMID:20507344 RGD:12910952, RGD:12910948 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:10405444 PMID:10982179 PMID:17334363 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23757202 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26813965 PMID:28369444 PMID:28492532 PMID:30311386 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732 		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 ClinVar
OMIM		 PMID:16299064 PMID:17632775 PMID:25167861 PMID:25741868 PMID:28133863 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		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: Mental retardation, CASK-related, X-linked
ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder		 ClinVar
OMIM		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 PMID:21609947 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23165780 PMID:24893065 PMID:25741868 PMID:26467025 PMID:27799067 PMID:28492532 PMID:28783747 PMID:29691940 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155 		JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:10,022,986...10,043,504
Ensembl chr  X:10,023,489...10,031,167 		JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:9,992,832...10,001,036
Ensembl chr  X:9,998,415...9,999,401 		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 1:4,445,039...4,588,507
Ensembl chr 1:4,445,027...4,560,789 		JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by OMIM:309548		 OMIM
ClinVar		 PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 PMID:28492532 NCBI chr  X:153,539,951...154,051,022
Ensembl chr  X:153,539,668...154,051,181 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: therapeutic CTD PMID:22046307 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858 		JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO RGD PMID:22900020 RGD:11558008 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:24352881 RGD:10401097 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610 		JBrowse link
G Fmr1 FMRP translational regulator 1 ISO
IMP		 DNA:trinucleotide expansion
compared to SD control;DNA:deletion:intron 7, exon 8:
ClinVar Annotator: match by term: Fragile X syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300624		 ClinVar
CTD
OMIM		 PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 PMID:9659908 PMID:15028757 PMID:15805463 PMID:16043816 PMID:16510718 PMID:17065172 PMID:18664458 PMID:18835858 PMID:20300527 PMID:21267007 PMID:22043169 PMID:28616095, PMID:1675488, PMID:30877790, PMID:27465362, PMID:28894415, PMID:24713347, PMID:12032354 RGD:1601178, RGD:38548928, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314 		JBrowse link
G Fmr1em1Sage fragile X mental retardation 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 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:brain RGD PMID:25466251, PMID:26850918 RGD:13204755, RGD:11572344 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Nrxn3 neurexin 3 ISO mRNA:decreased expression:hippocampus,somatosendory cortex RGD PMID:26235839 RGD:11554325 NCBI chr 6:112,133,204...114,069,589
Ensembl chr 6:112,133,204...114,067,564 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO ClinVar Annotator: match by term: Fragile X syndrome ClinVar NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME ClinVar PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6306478 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9041988 PMID:9195389 PMID:9569237 PMID:12034572 PMID:14522813 PMID:15115878 PMID:15454649 PMID:15978931 PMID:17964515 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18682522 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:25181470 PMID:25741868 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26672964 PMID:26831755 PMID:26987331 PMID:28492532 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265 		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 FMRP translational regulator 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism		 OMIM
CTD		 PMID:27385396, PMID:15876460 RGD:12050151 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		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:26358559 PMID:31587868 NCBI chr  X:123,751,196...123,770,595
Ensembl chr  X:123,751,089...123,770,595 		JBrowse link
intellectual disability-severe speech delay-mild dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Mental retardation with language impairment and with or without autistic features
ClinVar Annotator: match by OMIM:613670		 OMIM
ClinVar		 PMID:20950788 PMID:24214399 PMID:25131622 PMID:25326635 PMID:25363768 PMID:25741868 PMID:26647308 PMID:27657687 PMID:27824329 PMID:28492532 PMID:28708303 PMID:28741757 PMID:28884888 PMID:30311386 PMID:30385778 PMID:31199603 PMID:31474318 PMID:32860008 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755 		JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Kaufman oculocerebrofacial syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:23200864 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 NCBI chr12:47,946,691...47,991,973
Ensembl chr12:47,948,247...47,990,105 		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 ClinVar Annotator: match by term: Lesch-Nyhan syndrome
ClinVar Annotator: match by term: HPRT PARIS
DNA:deletion,insertion,duplication:cds:
DNA:mutations:multiple:
ClinVar Annotator: match by term: HPRT EVANSVILLE
ClinVar Annotator: match by term: HPRT NEW BRITON
ClinVar Annotator: match by term: HPRT FLINT
ClinVar Annotator: match by term: HPRT CONNERSVILLE
ClinVar Annotator: match by term: HPRT MIDLAND
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300322		 OMIM
ClinVar		 PMID:1434518 PMID:1618489 PMID:1639405 PMID:1840549 PMID:1934271 PMID:1937471 PMID:2071157 PMID:2323782 PMID:2347587 PMID:2738157 PMID:2760209 PMID:2910902 PMID:2928313 PMID:3198771 PMID:3384338 PMID:3909940 PMID:3944251 PMID:6087154 PMID:6853716 PMID:8664901 PMID:9288634 PMID:10767182 PMID:11668636 PMID:17027311 PMID:23975452 PMID:25481104 PMID:25741868 PMID:28492532 PMID:28708303, PMID:24940672, PMID:20638392 RGD:13463104, RGD:13462064 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749 		JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494 		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 ClinVar Annotator: match by null
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant
DNA,mRNA:missense mutations,decreased expression:cds:		 ClinVar PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 PMID:22157001 PMID:22999896 PMID:25481104 PMID:28492532, PMID:24940672 RGD:13463104 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749 		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: Lissencephaly and agenesis of corpus callosum
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked
ClinVar Annotator: match by synonym: Subcortical laminar heterotopia, X-linked		 ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Lissencephaly 2, X-linked
ClinVar Annotator: match by term: X-linked lissencephaly 2
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:300215		 OMIM
ClinVar		 PMID:11891829 PMID:11971879 PMID:12379852 PMID:12874405 PMID:12874418 PMID:14722918 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19606478 PMID:20300201 PMID:22252899 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24781210 PMID:25741868 PMID:26029707 PMID:28492532, PMID:12379852 RGD:11565832 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		JBrowse link
Lujan Fryns Syndrome 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: X-linked mental retardation with marfanoid habitus syndrome
ClinVar Annotator: match by term: Lujan Fryns syndrome
DNA:missense mutation:cds:p.N1007S(human)
ClinVar Annotator: match by OMIM:309520		 OMIM
ClinVar		 PMID:6711603 PMID:10405444 PMID:17334363 PMID:17369503 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24077912 PMID:25326635 PMID:25326637 PMID:25741868 PMID:28369444 PMID:28492532, PMID:17369503 RGD:12910949 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		JBrowse link
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS OMIM
ClinVar		 PMID:25741868 PMID:30449657 NCBI chr19:26,026,045...26,053,762
Ensembl chr19:26,026,043...26,053,762 		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: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
ClinVar Annotator: match by term: MEHMO syndrome		 ClinVar
OMIM		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:63,268,106...63,291,125
Ensembl chr  X:63,268,037...63,292,092 		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 ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon:
ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive
ClinVar Annotator: match by term: Menkes disease, mild
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 Annotator: match by OMIM:309400		 ClinVar
CTD
OMIM		 PMID:7842019 PMID:7977350 PMID:8812725 PMID:8981948 PMID:9246006 PMID:9894833 PMID:10319589 PMID:10570920 PMID:10739752 PMID:11092760 PMID:11157799 PMID:11241493 PMID:11350187 PMID:12221109 PMID:12228238 PMID:12676902 PMID:14579150 PMID:14635105 PMID:15372525 PMID:15923132 PMID:16083905 PMID:16435190 PMID:16824500 PMID:16826513 PMID:17003121 PMID:17009961 PMID:17108763 PMID:17483305 PMID:17496194 PMID:18414213 PMID:18779302 PMID:19153371 PMID:19194885 PMID:20045993 PMID:20170900 PMID:20301586 PMID:20652413 PMID:20831904 PMID:21208200 PMID:21242307 PMID:21494555 PMID:21667063 PMID:22130675 PMID:22210628 PMID:22455587 PMID:22664332 PMID:22695177 PMID:22728746 PMID:22815746 PMID:22981378 PMID:23064757 PMID:23281160 PMID:24033266 PMID:24627433 PMID:25003971 PMID:25247420 PMID:25741868 PMID:26117549 PMID:26199316 PMID:28119449 PMID:28251916 PMID:28451781 PMID:28492532 PMID:30311386 PMID:31319225 PMID:32005694, PMID:10739752, PMID:22074552, PMID:20497190, PMID:21208200, PMID:9215672, PMID:7842019 RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853 		JBrowse link
G Lox lysyl oxidase ISO
ISS		 OMIM:309400 MouseDO PMID:8638917 RGD:1581895 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819 		JBrowse link
Mental Retardation, X-Linked 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:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807943 NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592 		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:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO DNA:missense mutation:cds:p.T1621M (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:19291773, PMID:12116232 RGD:11040586 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 PMID:19377476 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155 		JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21264219 NCBI chr  X:4,691,406...4,743,999
Ensembl chr  X:4,691,172...4,739,890 		JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:15185169, PMID:15185169 RGD:1300392 NCBI chr  X:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532 		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:5,825,551...6,026,398
Ensembl chr  X:5,825,711...6,026,398 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11940089 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:p.S396PfsX15 (human)		 CTD PMID:8826463 PMID:9668174, PMID:22002931 RGD:13208827 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18801879 NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20473311 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503438 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722 		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:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		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:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		JBrowse link
G Ophn1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human)		 CTD PMID:17941886, PMID:12805098, PMID:21796728 RGD:13207442, RGD:13207441 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137 		JBrowse link
G Pcdh19 protocadherin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469813 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130 		JBrowse link
G Ptchd1 patched domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21091464 NCBI chr  X:42,558,912...42,610,430
Ensembl chr  X:42,558,931...42,614,242 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18350323 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291 		JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19377476 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704778 NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385 		JBrowse link
G Zfp711 zinc finger protein 711 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19377476 NCBI chr  X:84,062,363...84,095,888
Ensembl chr  X:84,064,427...84,096,617 		JBrowse link
Mental Retardation, X-Linked 102 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: Mental retardation, X-linked 102
ClinVar Annotator: match by OMIM:300958		 OMIM
ClinVar		 PMID:2563148 PMID:18414213 PMID:25741868 PMID:26235985 PMID:27159028 PMID:28371085 PMID:28492532 PMID:29490693 PMID:30349862 PMID:30734472 PMID:30817323 PMID:30936465 PMID:31274575 PMID:31474318 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 102 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500 		JBrowse link
Mental Retardation, X-Linked 95 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magt1 magnesium transporter 1 ISO OMIM NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667 		JBrowse link
Mental Retardation, X-Linked, Syndromic 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 ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic 33		 ClinVar
OMIM		 PMID:25741868 PMID:26637982 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085 		JBrowse link
Mental Retardation, X-Linked, Syndromic, 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: Mental retardation, X-linked, syndromic, Bain type ClinVar PMID:25741868 NCBI chr10:35,872,619...35,879,911
Ensembl chr10:35,870,232...35,879,910 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by OMIM:300986
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Bain type		 ClinVar
OMIM		 PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:29938792 PMID:30887513 PMID:31236915 PMID:31670473 PMID:31943778 NCBI chr  X:105,417,603...105,423,531
Ensembl chr  X:105,419,285...105,422,861 		JBrowse link
Mental Retardation, X-Linked, Syndromic, Ube2a-Related 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: UBE2A-Related X-Linked Syndromic Mental Retardation ClinVar PMID:25741868 NCBI chr  X:123,486,988...123,497,726
Ensembl chr  X:123,486,989...123,497,726 		JBrowse link
Mental Retardation, X-Linked, 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 ClinVar Annotator: match by term: Mental retardation, X-linked, with isolated growth hormone deficiency
DNA:duplication:cds:c.712_744dup (human)		 ClinVar PMID:8826446 PMID:12428212, PMID:12428212 RGD:11535974 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294 		JBrowse link
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome, X-linked
ClinVar Annotator: match by term: XLMR-HYPOTONIC FACIES SYNDROME
ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1
ClinVar Annotator: match by term: ATRX-Related Disorder
DNA:mutation:exon:c. 6740A>C (p.H224P)(human)
ClinVar Annotator: match by OMIM:309580
DNA:nonsense mutation:exon:324C>T (p.R37X) (human)
DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human)		 OMIM
ClinVar		 PMID:1684092 PMID:3239563 PMID:6682021 PMID:6711605 PMID:8630485 PMID:8968741 PMID:9043863 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10751095 PMID:10995512 PMID:11050622 PMID:15508018 PMID:15565397 PMID:15591283 PMID:16222662 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:24327140 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284, PMID:26997013, PMID:10632111, PMID:8630485 RGD:13442490, RGD:11040909, RGD:1599406 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Holmes-Gang syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321 		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: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,813,284...37,819,782
Ensembl chr19:37,812,751...37,819,789 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked
ClinVar Annotator: match by OMIM:309541		 OMIM
ClinVar		 PMID:1870093 PMID:23000143 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,825,576...37,827,393
Ensembl chr19:37,825,576...37,827,393 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome		 CTD
ClinVar
OMIM		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:23623388 PMID:25741868 PMID:26056227 PMID:28814648 PMID:31206972 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682 		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 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
ClinVar Annotator: match by term: SULFOIDURONATE SULFATASE DEFICIENCY
ClinVar Annotator: match by term: SIDS deficiency
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:309900
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM		 ClinVar
OMIM		 PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 PMID:1906048 PMID:7581397 PMID:7728156 PMID:7814022 PMID:7866405 PMID:7887413 PMID:8111411 PMID:8318991 PMID:8364592 PMID:8664909 PMID:8829647 PMID:8829661 PMID:8830188 PMID:8940265 PMID:9222763 PMID:9266380 PMID:9375851 PMID:9501270 PMID:9573369 PMID:9660053 PMID:9875019 PMID:9921913 PMID:9950361 PMID:10215411 PMID:10220152 PMID:10814710 PMID:10838181 PMID:11683780 PMID:11731225 PMID:14728992 PMID:15614569 PMID:16133661 PMID:16480701 PMID:17063374 PMID:17091340 PMID:17284421 PMID:17343270 PMID:17391447 PMID:18414213 PMID:18500569 PMID:20104590 PMID:20301451 PMID:21291454 PMID:21639919 PMID:21829674 PMID:22190500 PMID:22492741 PMID:22912587 PMID:22976768 PMID:22990955 PMID:24125893 PMID:24268528 PMID:24515576 PMID:24780617 PMID:25681085 PMID:25741868 PMID:26407519 PMID:26693516 PMID:26752647 PMID:26762690 PMID:27146977 PMID:27246110 PMID:27351199 PMID:27883178 PMID:27896113 PMID:28077157 PMID:28492532 PMID:28543354 PMID:29801497 PMID:30639582 PMID:30809705, PMID:1550586, PMID:27146977 RGD:1599819, RGD:12910721 NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618 		JBrowse link
Mullegama-Klein-Martinez syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag2 stromal antigen 2 ISO ClinVar Annotator: match by term: MULLEGAMA-KLEIN-MARTINEZ SYNDROME
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES		 OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:29263825 PMID:30158690 PMID:30447054 PMID:30765867 PMID:31334757 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418 		JBrowse link
neurodevelopmental disorder with midbrain and hindbrain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations ClinVar
OMIM		 PMID:28453519 NCBI chr 2:187,964,100...188,022,847
Ensembl chr 2:187,977,008...188,021,377 		JBrowse link
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS ClinVar
OMIM		 PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28590052 PMID:28856709 PMID:29100083 PMID:29369404 NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737 		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:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability		 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072 		JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:79,817,968...79,909,891
Ensembl chr  X:79,824,782...79,909,678 		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:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532 		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:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO
ISS		 DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human)
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)		 MouseDO PMID:9620768, PMID:9668174 RGD:13208823, RGD:13208831 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893 		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:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402 		JBrowse link
G LOC100363372 zinc finger protein 81 (HFZ20)-like ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:1,034,455...1,112,282
Ensembl chr  X:1,031,035...1,076,850 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar PMID:15351775 PMID:26605526 PMID:27247049 PMID:29618507 PMID:32043567 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:114,784,452...115,042,683
Ensembl chr  X:114,929,029...115,036,669 		JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:84,099,618...84,167,717
Ensembl chr  X:84,099,618...84,167,717 		JBrowse link
G Ptchd1 patched domain containing 1 ISO ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability ClinVar NCBI chr  X:42,558,912...42,610,430
Ensembl chr  X:42,558,931...42,614,242 		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 NCBI chr  X:73,757,664...73,778,763
Ensembl chr  X:73,762,691...73,778,674
Ensembl chr  X:73,762,691...73,778,674 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar NCBI chr  X:84,062,363...84,095,888
Ensembl chr  X:84,064,427...84,096,617 		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 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 1
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked mental retardation 18
ClinVar Annotator: match by OMIM:309530		 OMIM
ClinVar
CTD		 PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9628581 PMID:12210308 PMID:15197169 PMID:15669143 PMID:18414213 PMID:20473311 PMID:21686261 PMID:23020937 PMID:23674175 PMID:23934111 PMID:24306141 PMID:24759409 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26633542 PMID:26733290 PMID:26793055 PMID:26795593 PMID:27009485 PMID:27369185 PMID:27652284 PMID:27665735 PMID:27864847 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 PMID:29322350 PMID:29720203 PMID:30206421 PMID:30311386 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Mental retardation, X-linked 1 ClinVar PMID:20400964 PMID:21990120 PMID:22006311 PMID:22538716 PMID:24139550 PMID:24315737 PMID:24549055 PMID:24800917 PMID:25452441 PMID:25741868 PMID:26261251 PMID:26681312 PMID:28123851 PMID:28152038 PMID:28492532 PMID:28905878 PMID:29053726 PMID:29255180 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 ClinVar PMID:28492532 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525 		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: Mental retardation, X-linked 100 OMIM
ClinVar		 NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189 		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 ClinVar Annotator: match by term: Mental retardation, X-linked 101 ClinVar
OMIM		 PMID:24115387 PMID:25741868 NCBI chr  X:112,019,897...112,121,980
Ensembl chr  X:112,020,646...112,121,943 		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 ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 103
ClinVar Annotator: match by term: Mental retardation, X-linked 103		 ClinVar
OMIM		 PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:63,342,277...63,390,915
Ensembl chr  X:63,343,546...63,389,989 		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 Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 104 ClinVar
OMIM		 PMID:25644381 PMID:25741868 PMID:29267967 NCBI chr  X:27,231,648...28,206,890
Ensembl chr  X:28,072,826...28,204,260 		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: MENTAL RETARDATION, X-LINKED 105 ClinVar
OMIM		 PMID:25644381 NCBI chr  X:15,987,964...15,991,149
Ensembl chr  X:15,988,604...15,990,484 		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: MENTAL RETARDATION, X-LINKED 106 ClinVar
OMIM		 PMID:9083067 PMID:12724313 PMID:21240259 PMID:25679214 PMID:25741868 PMID:26273451 PMID:28302723 PMID:28584052 PMID:29769320 PMID:31627256 NCBI chr  X:71,540,870...71,585,906
Ensembl chr  X:71,528,988...71,585,908 		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: MENTAL RETARDATION, X-LINKED 107 ClinVar
OMIM		 PMID:29374277 NCBI chr  X:123,460,280...123,486,814
Ensembl chr  X:123,460,280...123,486,814 		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 ClinVar Annotator: match by term: Mental retardation, X-linked 19
ClinVar Annotator: match by OMIM:300844		 OMIM
ClinVar		 PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 PMID:28492532 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624 		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 ClinVar Annotator: match by term: Mental retardation 21, X-linked
ClinVar Annotator: match by OMIM:300143		 OMIM
ClinVar		 PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 PMID:21484992 PMID:25741868 PMID:28492532 NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893 		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 ClinVar Annotator: match by term: Mental retardation 30, X-linked
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47
ClinVar Annotator: match by OMIM:300558		 OMIM
ClinVar		 PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 PMID:17853471 PMID:18523455 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:114,784,452...115,042,683
Ensembl chr  X:114,929,029...115,036,669 		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 ClinVar Annotator: match by term: X-Linked Mental Retardation 41
ClinVar Annotator: match by OMIM:300849		 OMIM
ClinVar		 PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25741868 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404 		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 LOC100363372 zinc finger protein 81 (HFZ20)-like ISO ClinVar Annotator: match by OMIM:300498 OMIM
ClinVar		 PMID:10398246 PMID:15121780 NCBI chr  X:1,034,455...1,112,282
Ensembl chr  X:1,031,035...1,076,850 		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: Mental retardation 46, X-linked
ClinVar Annotator: match by term: X-linked mental retardation 46		 OMIM
ClinVar		 PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072 		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 OMIM NCBI chr  X:1,321,315...1,379,202
Ensembl chr  X:1,321,315...1,379,198 		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 ClinVar Annotator: match by term: X-linked mental retardation 58
ClinVar Annotator: match by OMIM:300210		 OMIM
ClinVar		 PMID:10449641 PMID:10655063 PMID:12070254 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:13,261,551...13,282,886
Ensembl chr  X:13,261,558...13,279,099 		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 ClinVar Annotator: match by term: Mental retardation 63, X-linked
ClinVar Annotator: match by OMIM:300387		 OMIM
ClinVar		 PMID:11889465 PMID:12525535 PMID:25741868 NCBI chr  X:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944 		JBrowse link
non-syndromic X-linked intellectual disability 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO OMIM NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385 		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: X-Linked Mental Retardation 88 ClinVar PMID:12089445 PMID:12746399 PMID:14598163 PMID:14722754 PMID:16283672 PMID:18414213 PMID:23871722 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842 		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 ClinVar Annotator: match by term: Mental retardation 9, X-linked
ClinVar Annotator: match by OMIM:309549		 OMIM
ClinVar		 PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:25741868 NCBI chr  X:14,993,685...15,006,010
Ensembl chr  X:14,994,016...15,002,074 		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: X-Linked mental retardation 90
ClinVar Annotator: match by OMIM:300850		 OMIM
ClinVar		 PMID:15185169 PMID:23020937 PMID:24721225 PMID:28492532 NCBI chr  X:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532 		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 OMIM NCBI chr  X:75,433,957...75,566,531
Ensembl chr  X:75,439,778...75,566,481 		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: Mental retardation, X-linked 93
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY
ClinVar Annotator: match by OMIM:300659		 OMIM
ClinVar		 PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr  X:79,817,968...79,909,891
Ensembl chr  X:79,824,782...79,909,678 		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 ClinVar Annotator: match by term: Mental retardation, X-linked 96
ClinVar Annotator: match by OMIM:300802		 OMIM
ClinVar		 PMID:19377476 PMID:25741868 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436 		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: ZNF711-Related X-linked Mental Retardation ClinVar NCBI chr  X:84,099,618...84,167,717
Ensembl chr  X:84,099,618...84,167,717 		JBrowse link
G Zfp711 zinc finger protein 711 ISO ClinVar Annotator: match by term: ZNF711-Related X-linked Mental Retardation
ClinVar Annotator: match by OMIM:300803		 OMIM
ClinVar		 PMID:10398247 PMID:19377476 PMID:25741868 PMID:27993705 PMID:28492532 NCBI chr  X:84,062,363...84,095,888
Ensembl chr  X:84,064,427...84,096,617 		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 ClinVar Annotator: match by term: Mental retardation, X-linked 98
ClinVar Annotator: match by OMIM:300912		 OMIM
ClinVar		 PMID:15466006 PMID:23615299 PMID:24307393 PMID:25741868 PMID:25900396 PMID:26576034 PMID:27358180 PMID:27568816 PMID:28492532 PMID:32860008 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405 		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 Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Mental retardation, X-linked 99 ClinVar PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Mental retardation, X-linked 99
ClinVar Annotator: match by term: USP9X related disorders		 ClinVar
OMIM		 PMID:19377476 PMID:24607389 PMID:25741868 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297 		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 ClinVar Annotator: match by term: Mental retardation, with or without seizures, ARX-related, X-linked
ClinVar Annotator: match by term: Mental retardation, X-linked 52
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87
ClinVar Annotator: match by term: X-linked mental retardation, with or without seizures, ARX-related
ClinVar Annotator: match by OMIM:300419		 OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:18414213 PMID:19439424 PMID:20300201 PMID:20506206 PMID:21204215 PMID:21204226 PMID:21496008 PMID:25741868 PMID:26029707 PMID:26467025 PMID:28492532 PMID:30255221 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		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:30471091 NCBI chr  X:138,675,326...138,972,774
Ensembl chr  X:138,677,580...138,972,684 		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 ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 36
ClinVar Annotator: match by term: Partington X-linked mental retardation syndrome
DNA:duplication:exon:c.428-451dup (human)		 OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:20506206 PMID:21204215 PMID:25741868 PMID:26029707 PMID:28492532, PMID:24528893 RGD:11565843 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		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 ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency
ClinVar Annotator: match by term: ACOX1-related condition
ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by OMIM:264470		 OMIM
ClinVar		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:11815777 PMID:17458872 PMID:18536048 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26965209 PMID:28492532 PMID:32169171 NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr10:105,073,077...105,095,094
Ensembl chr10:105,073,077...105,095,094 		JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674 		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: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar
OMIM		 PMID:24033266 PMID:25741868 NCBI chr15:34,216,735...34,224,357
Ensembl chr15:34,216,833...34,224,193 		JBrowse link
Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar Annotator: match by OMIM:614325		 OMIM
ClinVar		 PMID:2504536 PMID:17034946 PMID:18179900 PMID:18414213 PMID:19896112 PMID:20347009 PMID:20848651 PMID:21288692 PMID:21424692 PMID:21681106 PMID:21827697 PMID:21964664 PMID:22405623 PMID:22504536 PMID:22617343 PMID:23207424 PMID:23472757 PMID:23495017 PMID:23533028 PMID:23849776 PMID:24832020 PMID:25149956 PMID:25326635 PMID:25614873 PMID:25661985 PMID:25741868 PMID:26325558 PMID:26467025 PMID:26742492 PMID:27195815 PMID:28289584 PMID:28492532 PMID:30311386 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660 		JBrowse link
Primary Ovarian Insufficiency, Fragile X-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadac arylacetamide deacetylase ISO ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED ClinVar PMID:21681106 PMID:25666259 NCBI chr 2:150,146,234...150,157,480
Ensembl chr 2:150,146,234...150,157,480 		JBrowse link
G Fmr1 FMRP translational regulator 1 ISO RGD PMID:22470123 RGD:12050152 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314 		JBrowse link
pyruvate decarboxylase 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 complex deficiency ClinVar NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISS OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 MouseDO NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079 		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
ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency
DNA:mutations: :multiple
ClinVar Annotator: match by OMIM:312170
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2378353 PMID:7692352 PMID:8032855 PMID:8598634 PMID:21914562 PMID:23871722 PMID:25741868 PMID:28492532, PMID:10679936, PMID:20685142, PMID:20002461 RGD:731230, RGD:13207454, RGD:13207453 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410 		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		 PMID:15138885, PMID:15138885 RGD:1599115 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO
ISS		 ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111		 ClinVar
MouseDO		 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050 		JBrowse link
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 ISS OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 MouseDO NCBI chr 5:25,577,593...25,584,325
Ensembl chr 5:25,577,451...25,584,288 		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:20591708 PMID:21914562 PMID:22473288 PMID:28492532 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711 		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:37,342,251...37,755,373 JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency		 ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 PMID:1779625 PMID:1907799 PMID:1909401 PMID:1909778 PMID:2828359 PMID:3034892 PMID:3137520 PMID:7573035 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8032855 PMID:8199595 PMID:8504306 PMID:8504309 PMID:8598634 PMID:8771169 PMID:8962591 PMID:9266390 PMID:9671272 PMID:9686362 PMID:10486093 PMID:10679936 PMID:10775534 PMID:11102541 PMID:11241048 PMID:12379317 PMID:12551913 PMID:17043409 PMID:18023225 PMID:18197404 PMID:20002125 PMID:20002461 PMID:20591708 PMID:20691944 PMID:21846590 PMID:21914562 PMID:22473288 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25326635 PMID:25495354 PMID:25590979 PMID:25741868 PMID:26633542 PMID:26865159 PMID:28492532 PMID:28639102 PMID:28918066 PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410 		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 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 NCBI chr  X:35,822,687...35,947,690
Ensembl chr  X:35,869,538...35,947,282 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243 		JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency
ClinVar Annotator: match by OMIM:614111		 OMIM
ClinVar		 PMID:15138885 PMID:18164639 PMID:19924563 PMID:21914562 PMID:25356417 PMID:25741868 PMID:26014431 PMID:26865159 PMID:28492532 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854 		JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
ClinVar Annotator: match by OMIM:245348		 OMIM
ClinVar		 PMID:16049940 PMID:25741868 PMID:28492532 PMID:29093066 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:16049940 PMID:28492532 NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474 		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 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by OMIM:245349
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase e3-binding protein deficiency
ClinVar Annotator: match by null		 ClinVar
OMIM		 PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 PMID:12557299 PMID:16566017 PMID:17152059 PMID:21937992 PMID:25087164 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050 		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 OMIM:300114
ClinVar Annotator: match by term: CLCN4-related disorder
ClinVar Annotator: match by term: Mental retardation 49, X-linked		 ClinVar
OMIM		 PMID:8826458 PMID:9415477 PMID:23647072 PMID:25644381 PMID:25741868 PMID:25741869 PMID:27550844 PMID:28492532 NCBI chr  X:25,016,177...25,082,563
Ensembl chr  X:25,016,401...25,080,410 		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 ClinVar Annotator: match by term: Renpenning syndrome 1
ClinVar Annotator: match by OMIM:309500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6711604 PMID:9545405 PMID:13981686 PMID:15024694 PMID:15782410 PMID:16493439 PMID:16740914 PMID:20410308 PMID:20950397 PMID:21267006 PMID:21315190 PMID:21836667 PMID:24088041 PMID:24781215 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:28492532 PMID:30311386 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130 		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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488 		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		 PMID:18414213 PMID:19241098 PMID:19396824, PMID:23242510 RGD:11070543 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711 		JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19000991 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025 		JBrowse link
G Foxg1 forkhead box G1 ISS OMIM:312750 | OMIM:613454 MouseDO NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037 		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 PMID:28856709 PMID:29100083 NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Rett's disorder ClinVar PMID:15712379 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO protein:increased expression:locus ceruleus RGD PMID:21307341 RGD:8662896 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO
IMP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Rett syndrome
ClinVar Annotator: match by term: Rett's disorder
ClinVar Annotator: match by term: Rett Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:312750
DNA:deletions:exons, introns, 3' utr:multiple (human)		 ClinVar
CTD
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 PMID:2460487 PMID:5300597 PMID:8177735 PMID:9038338 PMID:9377804 PMID:9546328 PMID:10508514 PMID:10577905 PMID:10737989 PMID:10745042 PMID:10767337 PMID:10805343 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11022934 PMID:11035019 PMID:11055848 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11283202 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11453972 PMID:11462237 PMID:11469283 PMID:11524737 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913564 PMID:11913567 PMID:11930274 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12481990 PMID:12567420 PMID:12615169 PMID:12655490 PMID:12673788 PMID:12707062 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12966522 PMID:12966523 PMID:14536082 PMID:14560307 PMID:14593183 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:14986829 PMID:15000811 PMID:15034579 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15241799 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15689438 PMID:15691364 PMID:15712379 PMID:15737703 PMID:15841480 PMID:15857422 PMID:15866439 PMID:16077729 PMID:16077736 PMID:16080119 PMID:16122633 PMID:16155192 PMID:16182490 PMID:16183801 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16630165 PMID:16670375 PMID:16672765 PMID:16690727 PMID:16763963 PMID:16829352 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16965328 PMID:16966553 PMID:17026625 PMID:17084570 PMID:17089071 PMID:17142618 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17370310 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17433737 PMID:17440498 PMID:17505203 PMID:17881312 PMID:17914728 PMID:17968969 PMID:17986102 PMID:18021529 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18652533 PMID:18678449 PMID:18688080 PMID:18842453 PMID:18989701 PMID:19000991 PMID:19034540 PMID:19133691 PMID:19189931 PMID:19190538 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19365833 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19559301 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19724012 PMID:19914908 PMID:19921286 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20108430 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20376788 PMID:20384458 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21212452 PMID:21300488 PMID:21316312 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21695138 PMID:21764336 PMID:21812101 PMID:21831886 PMID:21871116 PMID:21878110 PMID:21940684 PMID:21954873 PMID:21966470 PMID:21982064 PMID:22001500 PMID:22182064 PMID:22213695 PMID:22277191 PMID:22343140 PMID:22368975 PMID:22476991 PMID:22497713 PMID:22525432 PMID:22532851 PMID:22561697 PMID:22923521 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23866855 PMID:23892605 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24328834 PMID:24399845 PMID:24508304 PMID:24511209 PMID:24626160 PMID:24715477 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25541993 PMID:25634563 PMID:25644311 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26214522 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26842955 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27442528 PMID:27465203 PMID:27799067 PMID:27824329 PMID:27929079 PMID:28250423 PMID:28394482 PMID:28397838 PMID:28492532 PMID:28498846 PMID:28544139 PMID:28592917 PMID:28785396 PMID:29655203 PMID:29720203 PMID:29961512 PMID:30311386 PMID:30536762 PMID:32214227 PMID:32581362 PMID:32860008, PMID:11214906, PMID:18396005, PMID:11242117, PMID:16183801 RGD:1601319, RGD:12790974, RGD:12743654, RGD:1601318 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Mir199a2 microRNA 199a-2 ISS OMIM:312750 | OMIM:613454 MouseDO NCBI chr13:80,125,487...80,125,596
Ensembl chr13:80,125,487...80,125,596 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214522 NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848 		JBrowse link
G Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:18298893 PMID:25741868 PMID:29276004 NCBI chr15:51,465,148...51,485,562
Ensembl chr15:51,465,148...51,485,692 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO RGD PMID:20869373 RGD:9590158 NCBI chr 2:196,495,867...196,527,412
Ensembl chr 2:196,495,867...196,527,127 		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 PMID:16611748 PMID:16813600 PMID:17993579 PMID:18063413 PMID:18414213 PMID:18790821 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19428276 PMID:19455595 PMID:19471977 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20493745 PMID:21160487 PMID:21293276 PMID:21318334 PMID:21765152 PMID:21770923 PMID:22430159 PMID:22670143 PMID:22678952 PMID:22867051 PMID:22982301 PMID:23151060 PMID:23238081 PMID:23583054 PMID:25741868 PMID:25819767 PMID:26467025 PMID:27848944 PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711 		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 PMID:11283202 PMID:11313756 PMID:11524741 PMID:11738883 PMID:12180070 PMID:15737703 PMID:17089071 PMID:17387578 PMID:19914908 PMID:25927341 PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:19428276 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243 		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
ClinVar Annotator: match by OMIM:613454		 OMIM
ClinVar		 PMID:18414213 PMID:18571142 PMID:19564653 PMID:19578037 PMID:19623215 PMID:19806373 PMID:20734096 PMID:20736978 PMID:21270142 PMID:21280142 PMID:21441262 PMID:21488007 PMID:22091895 PMID:22129046 PMID:22190898 PMID:22258524 PMID:22739344 PMID:22968132 PMID:23757202 PMID:24412290 PMID:24836831 PMID:24901346 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25914188 PMID:26344814 PMID:26467025 PMID:26542077 PMID:26544041 PMID:26938784 PMID:27029630 PMID:28492532 PMID:28554332 PMID:28661489 PMID:28851325 PMID:29389947 PMID:29655203 PMID:29852413 PMID:30525188 PMID:30533527 PMID:32581362 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037 		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 null
ClinVar Annotator: match by term: Rett syndrome, zappella variant		 ClinVar PMID:1191367 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10852707 PMID:10854091 PMID:10991688 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309679 PMID:11313756 PMID:11376998 PMID:11402105 PMID:11462237 PMID:11469283 PMID:11738866 PMID:11738879 PMID:11738885 PMID:11746022 PMID:11913567 PMID:11960578 PMID:12111643 PMID:12180070 PMID:12567420 PMID:12673788 PMID:12707946 PMID:12746406 PMID:12770674 PMID:12843318 PMID:12966523 PMID:14560307 PMID:15057977 PMID:15173251 PMID:15526954 PMID:15737703 PMID:16122633 PMID:16473305 PMID:17089071 PMID:17341617 PMID:17387578 PMID:17986102 PMID:18332345 PMID:18414213 PMID:18562141 PMID:18989701 PMID:19652677 PMID:19722030 PMID:20031356 PMID:20301670 PMID:21160487 PMID:21831886 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:23260135 PMID:23262346 PMID:23421866 PMID:23810759 PMID:23859859 PMID:25741868 PMID:26175308 PMID:26418480 PMID:26467025 PMID:26647311 PMID:26842955 PMID:27929079 PMID:28394482 PMID:28492532 PMID:29655203 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		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:24865609 PMID:25741868 PMID:26522830 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:32581362 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651 		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: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,407,973...156,415,053
Ensembl chr  X:156,407,937...156,415,145 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,319,687...156,328,974
Ensembl chr  X:156,319,687...156,328,309 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations
ClinVar Annotator: match by OMIM:300673		 OMIM
ClinVar
CTD		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2460487 PMID:5300597 PMID:8177735 PMID:9038338 PMID:9546328 PMID:10232754 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10805343 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11035019 PMID:11055848 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11283202 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11453972 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913564 PMID:11913567 PMID:11930274 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12555243 PMID:12566531 PMID:12567420 PMID:12655490 PMID:12673788 PMID:12707062 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12966523 PMID:14536082 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:14986829 PMID:15034579 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15287421 PMID:15351775 PMID:15389714 PMID:15492925 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15689435 PMID:15689438 PMID:15712379 PMID:15737703 PMID:15857422 PMID:15866439 PMID:15875198 PMID:16077729 PMID:16077736 PMID:16080119 PMID:16122633 PMID:16155192 PMID:16182490 PMID:16183801 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16965328 PMID:17084570 PMID:17088400 PMID:17089071 PMID:17142618 PMID:17172942 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17370310 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17440498 PMID:17505203 PMID:17712354 PMID:17881312 PMID:17914728 PMID:17968969 PMID:17986102 PMID:18021529 PMID:18174548 PMID:18174559 PMID:18190595 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18477000 PMID:18499664 PMID:18562141 PMID:18572337 PMID:18652533 PMID:18678449 PMID:18810657 PMID:18842453 PMID:18989701 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19724012 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20108430 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20376788 PMID:20384458 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21695138 PMID:21764336 PMID:21831886 PMID:21871116 PMID:21878110 PMID:21940684 PMID:21954873 PMID:21982064 PMID:22182064 PMID:22213695 PMID:22277191 PMID:22368975 PMID:22382802 PMID:22476991 PMID:22497713 PMID:22525432 PMID:22561697 PMID:22578097 PMID:22923521 PMID:23220634 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24328834 PMID:24399845 PMID:24458799 PMID:24508304 PMID:24511209 PMID:24626160 PMID:24715477 PMID:24743294 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25165434 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25541993 PMID:25634563 PMID:25644311 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26842955 PMID:26930212 PMID:26931468 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27442528 PMID:27465203 PMID:27799067 PMID:27824329 PMID:27929079 PMID:28250423 PMID:28394482 PMID:28492532 PMID:28544139 PMID:28785396 PMID:29655203 PMID:29720203 PMID:30311386 PMID:30536762 PMID:32214227 PMID:32581362 PMID:32860008 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,363,400...156,379,433
Ensembl chr  X:156,363,405...156,379,189 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,438,251...156,440,461
Ensembl chr  X:156,438,251...156,440,461 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,335,385...156,340,256
Ensembl chr  X:156,336,450...156,340,234 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650 		JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,540,442...156,569,272
Ensembl chr  X:156,552,528...156,569,249 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,507,797...156,540,733
Ensembl chr  X:156,507,797...156,540,733 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 NCBI chr  X:156,340,919...156,343,771
Ensembl chr  X:156,340,925...156,343,777 		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 Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Mental retardation, Stocco dos Santos type
ClinVar Annotator: match by term: Stocco dos Santos syndrome
ClinVar Annotator: match by OMIM:300434		 OMIM
ClinVar		 PMID:12673656 PMID:16249884 PMID:25741868 PMID:26740508 NCBI chr  X:16,723,360...16,929,829
Ensembl chr  X:16,719,803...16,929,907 		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) RGD PMID:10369164 RGD:12904717 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		JBrowse link
G Eml1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain ClinVar
OMIM		 PMID:24859200 PMID:28556411 NCBI chr 6:132,367,342...132,450,488
Ensembl chr 6:132,383,337...132,450,393 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10441340 PMID:11502906 PMID:14581661 PMID:18414213 PMID:25741868 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412 		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:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299 		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: Lenz microphthalmia syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:28492532, PMID:15004558 RGD:1600504 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Lenz microphthalmia syndrome
ClinVar Annotator: match by OMIM:309800		 OMIM
ClinVar		 PMID:1679229 PMID:11426460 PMID:16114045 PMID:24431331 PMID:25741868 PMID:30842225 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950 		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:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		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 Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: X-linked mental retardation, syndromic 14
ClinVar Annotator: match by term: Mental retardation, syndromic 14, X-linked		 ClinVar
OMIM		 PMID:17704778 PMID:22957832 PMID:25741868 PMID:28492532 NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385 		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: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic 34
ClinVar Annotator: match by OMIM:300967		 ClinVar
OMIM		 PMID:25741868 PMID:26571461 PMID:27329731 PMID:27550220 PMID:31883306 PMID:32238909 NCBI chr  X:71,324,365...71,342,225
Ensembl chr  X:71,324,365...71,342,225 		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 ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5
ClinVar Annotator: match by OMIM:304340		 OMIM
ClinVar
CTD		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:23756445 PMID:25741868 NCBI chr  X:32,329,883...32,376,301
Ensembl chr  X:32,329,598...32,355,307 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329 		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 ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 29
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, wu type
ClinVar Annotator: match by term: Disrupted sleep-wake cycle with developmental delay and learning difficulty
ClinVar Annotator: match by OMIM:300699		 OMIM
ClinVar		 PMID:17989220 PMID:24721225 PMID:25326635 PMID:25741868 PMID:25985138 PMID:28492532 PMID:28708303 PMID:29016847 NCBI chr  X:127,561,843...127,829,763
Ensembl chr  X:127,562,660...127,829,753 		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 Cul4b cullin 4B ISO ClinVar Annotator: match by term: Syndromic X-linked mental retardation, Cabezas type
ClinVar Annotator: match by term: Mental retardation, X-linked, with short stature
ClinVar Annotator: match by OMIM:300354		 OMIM
ClinVar		 PMID:8135271 PMID:10978355 PMID:17236139 PMID:17273978 PMID:18414213 PMID:25385192 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329 		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 Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Mental retardation, syndromic, Claes-Jensen type, X-linked
ClinVar Annotator: match by OMIM:300534
DNA:snp:cds:c.2T>C (human)		 OMIM
ClinVar		 PMID:1605217 PMID:10982473 PMID:15586325 PMID:16538222 PMID:18203167 PMID:18414213 PMID:18697827 PMID:19826449 PMID:21575681 PMID:23356856 PMID:25741868 PMID:28492532 PMID:28708303, PMID:22326837 RGD:9587779 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627 		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:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type
ClinVar Annotator: match by OMIM:300423		 OMIM
ClinVar		 PMID:11782983 PMID:15746149 PMID:25741868 PMID:26467025 PMID:26467484 PMID:28492532 PMID:30985297 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915 		JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995 		JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,022,986...10,043,504
Ensembl chr  X:10,023,489...10,031,167 		JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:9,992,832...10,001,036
Ensembl chr  X:9,998,415...9,999,401 		JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,964,035...11,082,403
Ensembl chr  X:10,963,809...11,082,565 		JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:11,098,849...11,105,312 JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583 		JBrowse link
G RGD1565685 similar to RIKEN cDNA 1810030O07 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:11,082,668...11,105,588
Ensembl chr  X:11,084,317...11,105,588 		JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297 		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: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938 		JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274 		JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016 		JBrowse link
G Acot9 acyl-CoA thioesterase 9 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:43,543,069...43,592,200
Ensembl chr  X:43,543,070...43,592,200 		JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944 		JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:133,227,699...133,229,052
Ensembl chr  X:133,227,660...133,229,047 		JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642 		JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:159,286,775...159,437,536
Ensembl chr  X:159,427,745...159,437,453 		JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:153,539,951...154,051,022
Ensembl chr  X:153,539,668...154,051,181 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087 		JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:123,773,430...123,788,898
Ensembl chr  X:123,773,430...123,788,898 		JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:16,296,027...16,306,078
Ensembl chr  X:16,296,735...16,306,078 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341 		JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505