Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Rett syndrome
go back to main search page
Accession:DOID:1206 term browser browse the term
Definition:An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
Synonyms:exact_synonym: RTS;   RTT;   Rett disorder;   Rett's disorder;   Rett's syndrome;   Retts syndrome;   autism, dementia, ataxia, and loss of purposeful hand use;   autism, dementia, ataxia, loss of purposeful hand use syndrome;   cerebroatrophic hyperammonemia;   cerebroatrophic hyperammonemias
 primary_id: MESH:D015518
 alt_id: OMIM:312750;   RDO:0000210
 xref: GARD:5696;   ICD10CM:F84.2;   NCI:C75488
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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: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
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:11180222 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:11738862 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:15718369 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:18058624 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:20728410 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21212452 PMID:21300488 PMID:21316312 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21600714 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:22190343 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:23488948 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:24453408 PMID:24508304 PMID:24511209 PMID:24626160 PMID:24715477 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25124696 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:26544843 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:28135719 PMID:28250423 PMID:28394482 PMID:28397838 PMID:28492532 PMID:28498846 PMID:28544139 PMID:28592917 PMID:28785396 PMID:28831199 PMID:29482495 PMID:29655203 PMID:29720203 PMID:29961512 PMID:30081849 PMID:30536762 PMID:30564305 PMID:30573328 PMID:30673959 PMID:30868116 PMID:30945278 PMID:31138832 PMID:31629770 PMID:32214227 PMID:32472557 PMID:32581362 PMID:32860008, PMID:11214906, PMID:27313794, PMID:18396005, PMID:11242117, PMID:16183801 RGD:1601319, RGD:11568037, 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 Mecp2em1Sage methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:27313794 RGD:11568037
G Mir199a2 microRNA 199a-2 ISS OMIM:312750 | OMIM:613454 MouseDO NCBI chr13:80,125,487...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
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:38,294,009...38,353,525
Ensembl chr  X:38,295,365...38,353,461
JBrowse link
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:9536098 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17576681 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:24500651 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25640679 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27391121 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30624022 PMID:30776697 PMID:31492455 PMID:31780880 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 Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,579,959...37,595,300
Ensembl chr  X:37,579,957...37,595,486
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,342,251...37,755,373 JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:38,400,578...38,467,825
Ensembl chr  X:38,397,261...38,468,360
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 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 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: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:35,822,687...35,947,690
Ensembl chr  X:35,869,538...35,947,282
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 Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
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:9536098 PMID:15499549 PMID:16813600 PMID:17576681 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:25640679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29655203 PMID:30624022 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
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:18076117 PMID:25315662 PMID:28492532 NCBI chr  X:37,790,004...38,196,365
Ensembl chr  X:37,790,586...38,196,204
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:23934111 PMID:25741868 PMID:25819767 PMID:26467025 PMID:27848944 PMID:28492532 PMID:31492455 PMID:31780880 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:25741868 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 OMIM:613454
ClinVar Annotator: match by term: Rett syndrome, congenital variant
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:21694734 PMID:22091895 PMID:22129046 PMID:22190898 PMID:22258524 PMID:22739344 PMID:22968132 PMID:23757202 PMID:23838309 PMID:24412290 PMID:24731847 PMID:24836831 PMID:24901346 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25914188 PMID:26344814 PMID:26364767 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:30792901 PMID:30866059 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Rett syndrome 30
        Rett Syndrome, Atypical 3
        Rett Syndrome, Congenital Variant 1
        Rett Syndrome, Preserved Speech Variant 0
        Rett Syndrome, Zappella Variant 1
        developmental and epileptic encephalopathy 2 17
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  intellectual disability 3384
                    syndromic intellectual disability 752
                      Mental Retardation, X-Linked 717
                        Rett syndrome 30
                          Rett Syndrome, Atypical 3
                          Rett Syndrome, Congenital Variant 1
                          Rett Syndrome, Preserved Speech Variant 0
                          Rett Syndrome, Zappella Variant 1
                          developmental and epileptic encephalopathy 2 17
paths to the root