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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: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:2393019, PMID:8484404, PMID:12871948, PMID:14661163, PMID:15889350, PMID:15980113, PMID:18187543, PMID:18398436, PMID:18414213, PMID:20628049, PMID:20655035, PMID:21098685, PMID:21896621, PMID:22805248, PMID:23550058, PMID:23568789, PMID:24265446, PMID:24629861, PMID:24665922, PMID:24721225, PMID:25167861, PMID:25527620, PMID:25644381, PMID:25741868, PMID:27212794, PMID:27672545, 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: 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:1415255, 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:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:10632111, PMID:10995512, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:15508018, PMID:15591283, PMID:16118346, PMID:16722615, PMID:16763962, PMID:16813605, PMID:16955409, PMID:17579672, PMID:18409179, PMID:18414213, PMID:19005673, PMID:20500465, PMID:21505078, PMID:21653732, PMID:22995991, PMID:23681356, PMID:24082139, PMID:24289169, PMID:24327140, PMID:24728327, PMID:24759409, PMID:24805811, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28293299, PMID:28371197, PMID:28371217, PMID:28492530, PMID:28492532, PMID:28708303, PMID:29304373, PMID:29602769, PMID:29910053, 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: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: Lissencephaly classic
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar PMID:9063735, PMID:9147889, PMID:9817918, PMID:10441340, PMID:11115846, PMID:11502906, PMID:12668601, PMID:12885786, PMID:14581661, PMID:15007136, PMID:17664403, PMID:18414213, PMID:19667223, PMID:24088041, PMID:24862549, PMID:25326635, PMID:25741868, PMID:26633545, PMID:27891766, PMID:28440899, PMID:30311386, 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:10893433, PMID:11326334, PMID:11898126, PMID:12210795, PMID:12536364, PMID:15154114, PMID:15234334, PMID:16086185, PMID:16738945, PMID:17101918, PMID:17465020, PMID:18047645, PMID:18414213, PMID:19188083, PMID:20528887, PMID:20717164, PMID:20846889, PMID:21836662, PMID:21910234, PMID:22281021, PMID:22659343, PMID:23408511, PMID:23644449, PMID:23660394, PMID:24137762, PMID:24190795, PMID:25326635, PMID:25741868, PMID:25803912, PMID:25861866, PMID:26467025, PMID:27081545, PMID:28065824, 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:8279489, PMID:10405444, PMID:10982179, PMID:16700052, PMID:17036352, PMID:17103446, PMID:17334363, PMID:17369503, PMID:18414213, PMID:20507344, PMID:20970104, PMID:23395478, PMID:23757202, PMID:24039113, PMID:24728327, PMID:25326637, PMID:25644381, PMID:25741868, PMID:26273451, PMID:26338144, 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:8279489, PMID:10405444, PMID:10982179, PMID:16700052, PMID:17036352, PMID:17103446, PMID:17334363, PMID:17369503, PMID:18414213, PMID:18691967, PMID:19938245, PMID:20507344, PMID:20970104, PMID:20981778, PMID:23395478, PMID:23757202, PMID:24039113, PMID:24728327, PMID:25326635, PMID:25326637, PMID:25644381, PMID:25741868, PMID:26273451, PMID:26338144, PMID:26813965, 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:21498811, PMID:21609947, PMID:21735175, PMID:21954287, PMID:22452838, PMID:22495306, PMID:22709267, PMID:23165780, PMID:23623288, PMID:23662938, PMID:24768552, PMID:24781210, PMID:24893065, PMID:25741868, PMID:25886057, 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
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:27465362, PMID:28894415, PMID:24713347, PMID:12032354 RGD:1601178, 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: RGD PMID:27465362 RGD:38548926
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:12692134, PMID:20571508, PMID:20950788, PMID:21572417, PMID:22670142, PMID:24214399, PMID:24267886, PMID:25131622, PMID:25326635, PMID:25363768, PMID:25741868, PMID:25853299, PMID:26647308, PMID:27657687, PMID:27824329, PMID:27899622, PMID:28492532, PMID:28708303, PMID:28741757, PMID:28884888, PMID:30311386, PMID:30385778, PMID:31199603, 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: Hypoxanthine guanine phosphoribosyltransferase deficiency
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:1301916, PMID:1434518, PMID:1618489, PMID:1639405, PMID:1840549, PMID:1934271, PMID:1937471, PMID:2071157, PMID:2323782, PMID:2347587, PMID:2397545, 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:9799086, PMID:10737990, PMID:10767182, PMID:11018746, PMID:11668636, PMID:15386453, PMID:15505382, PMID:15571220, PMID:16549399, PMID:17027311, PMID:17454734, PMID:19016344, PMID:20981450, PMID:22132984, PMID:22157001, PMID:22999896, PMID:23975452, PMID:25136576, PMID:25481104, PMID:25741868, PMID:28045594, PMID:28492532, PMID:28708303, PMID:30311386, 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: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: Lujan Fryns syndrome
DNA:missense mutation:cds:p.N1007S(human)
ClinVar Annotator: match by OMIM:309520
OMIM
ClinVar
PMID:6711603, PMID:17334363, PMID:17369503, PMID:18691967, PMID:19938245, PMID:20981778, PMID:23395478, PMID:24039113, PMID:24077912, PMID:25326635, PMID:25326637, PMID:25741868, 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:17717039, PMID:18414213, PMID:18779302, PMID:19153371, PMID:19194885, PMID:19888294, 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:24002164, PMID:24033266, PMID:24627433, PMID:24919650, 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 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:9381176, PMID:15572142, PMID:15772666, PMID:16518819, PMID:17979704, PMID:18414213, PMID:18463129, PMID:22722829, PMID:23413191, PMID:24267886, PMID:25050112, PMID:25326669, PMID:25533962, PMID:25724843, PMID:25741868, PMID:26235985, PMID:27159028, PMID:28371085, PMID:28492532, PMID:29490693, PMID:30349862, PMID:30734472, PMID:30817323, PMID:30936465, PMID:31274575 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
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:17273961, PMID:25587064, PMID:25644381, 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:25348405, PMID:25356899, PMID:27545675, PMID:30887513 NCBI chr  X:105,417,603...105,423,531
Ensembl chr  X:105,419,285...105,422,861
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, 1
ClinVar Annotator: match by term: Holmes-Gang syndrome
ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome, X-linked
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:1415255, PMID:1684092, PMID:3239563, PMID:6682021, PMID:6711605, PMID:8630485, PMID:8968741, PMID:9043863, PMID:9244431, PMID:9326931, PMID:10398234, PMID:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:10632111, PMID:10751095, PMID:10995512, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:15508018, PMID:15565397, PMID:15591283, PMID:16118346, PMID:16222662, PMID:16722615, PMID:16813605, PMID:16955409, PMID:18409179, PMID:18414213, PMID:19005673, PMID:20500465, PMID:21653732, PMID:24289169, PMID:24327140, PMID:24805811, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25741868, PMID:28371197, PMID:28371217, PMID:28492532, 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
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:9872317, PMID:25262651, PMID:25741868, PMID:26740508, PMID:27541642, PMID:28492532, 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 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 Zfp275 zinc finger protein 275 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:157,457,399...157,474,263
Ensembl chr  X:157,457,515...157,474,219
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:8486697, PMID:9083067, PMID:9083068, PMID:10386995, PMID:10542233, PMID:10801981, PMID:11739622, PMID:12538765, PMID:12618343, PMID:12724313, PMID:14749383, PMID:15944815, PMID:18818698, PMID:19004831, PMID:19782947, PMID:20824293, PMID:21240259, PMID:21295698, PMID:22121020, PMID:22605332, PMID:23487789, PMID:23729667, PMID:24011988, PMID:24311690, PMID:24593906, PMID:24979775, PMID:24995978, 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 RGD1564541 similar to hypothetical protein FLJ22965 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, 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:19166906, 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: DLG3-Related Disorder
ClinVar Annotator: match by term: X-Linked mental retardation 90
ClinVar Annotator: match by OMIM:300850
OMIM
ClinVar
PMID:15185169, PMID:19795139, PMID:22659343, PMID:23020937, PMID:24721225, PMID:25649377, PMID:28492532, PMID:28777483 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 OMIM:300802 OMIM
ClinVar
PMID:19377476 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:19524067, PMID:22531377, PMID:23352160, PMID:23615299, PMID:24307393, PMID:25741868, PMID:25900396, PMID:26290131, 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 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:24690944, PMID:25741868, PMID:25763846, PMID:26833328, PMID:28688840 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:7887408, PMID:7887409, 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:15384102, 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:25326637, PMID:25526709, PMID:25590979, PMID:25741868, PMID:26008863, PMID:26633542, PMID:26865159, PMID:26944031, PMID:27144126, PMID:27896109, 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:1293379, PMID:16049940, PMID:20022530, PMID:22079328, 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: Mental retardation 49, X-linked
ClinVar Annotator: match by term: CLCN4-related disorder
ClinVar
OMIM
PMID:8826458, PMID:9415477, PMID:23647072, PMID:25644381, PMID:25741868, PMID:25741869, PMID:26034137, 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:21315190, PMID:21836667, PMID:24088041, 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:9872317, PMID:25262651, 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
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: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:11227330, 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: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: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:15558314, 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:16169931, 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:17267601, 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: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: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: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:24458799, PMID:24508304, PMID:24511209, PMID:24626160, PMID:24715477, PMID:24776741, PMID:24916645, PMID:24970834, PMID:25167861, PMID:25326635, PMID:25473036, PMID:25541993, PMID:25634563, PMID:25644311, PMID:25741868, 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:27354166, PMID:27442528, PMID:27465203, PMID:27799067, PMID:27824329, PMID:27929079, PMID:28250423, 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: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
G Zfp275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:15841480, PMID:16473305, PMID:16829352 NCBI chr  X:157,457,399...157,474,263
Ensembl chr  X:157,457,515...157,474,219
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:18266744, 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:21775177, PMID:22430159, PMID:22670135, PMID:22670143, PMID:22678952, PMID:22779007, PMID:22867051, PMID:22872100, PMID:22982301, PMID:23151060, PMID:23238081, PMID:23583054, PMID:24564546, PMID:24916645, PMID:25266480, PMID:25741868, PMID:25819767, PMID:26467025, PMID:26708753, PMID:27528505, 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:8177735, PMID:10508514, PMID:10854091, PMID:11035019, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11269512, PMID:11283202, PMID:11313756, PMID:11524741, PMID:11738883, PMID:12180070, PMID:12615169, PMID:15057977, PMID:15558314, PMID:15737703, PMID:16169931, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17351020, PMID:17387578, PMID:18337588, PMID:19914908, PMID:21154482, PMID:23421866, PMID:24399845, PMID:24458799, PMID:27354166, 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:2760358, PMID:18414213, PMID:18571142, PMID:19564653, PMID:19578037, PMID:19623215, PMID:19806373, PMID:20356955, 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:22998673, PMID:23757202, PMID:24412290, PMID:24766421, PMID:24836831, PMID:24901346, PMID:25326635, PMID:25356899, PMID:25565401, PMID:25741868, PMID:25914188, PMID:26344814, PMID:26364767, PMID:26467025, PMID:26542077, PMID:26544041, PMID:26938784, PMID:27001178, PMID:27029630, PMID:27640358, PMID:28492532, PMID:28544139, PMID:28554332, PMID:28661489, PMID:28851325, 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:8177735, 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:11227330, 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:12615169, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12770674, PMID:12843318, PMID:12966523, PMID:14560307, PMID:15057977, PMID:15173251, PMID:15526954, PMID:15558314, PMID:15737703, PMID:16122633, PMID:16169931, PMID:16473305, PMID:16832102, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17986102, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18562141, PMID:18989701, PMID:19652677, PMID:19722030, PMID:20031356, PMID:20301670, PMID:21154482, PMID:21160487, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:23260135, PMID:23262346, PMID:23421866, PMID:23810759, PMID:23859859, PMID:24399845, PMID:24458799, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:26842955, PMID:27354166, PMID:27929079, PMID:28492532, PMID:29655203, PMID:30311386 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:29265708, 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: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:11227330, 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:12615169, PMID:12655490, PMID:12673788, PMID:12707062, PMID:12707946, 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: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:15558314, 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:16169931, 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:17267601, 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: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: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: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:25326635, PMID:25473036, PMID:25541993, PMID:25634563, PMID:25644311, PMID:25741868, 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:27354166, PMID:27442528, PMID:27465203, PMID:27799067, PMID:27824329, PMID:27929079, PMID:28250423, 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 Syndrome 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 term: X-linked mental retardation, syndromic, Claes-Jensen type
ClinVar Annotator: match by OMIM:300534
DNA:snp:cds:c.2T>C (human)
OMIM
ClinVar
PMID:1605217, PMID:10982473, PMID:15586325, PMID:16538222, PMID:16541399, PMID:17320160, PMID:17468742, PMID:18203167, PMID:18414213, PMID:18697827, PMID:19826449, PMID:21575681, PMID:23356856, PMID:23999528, PMID:24583395, PMID:25666439, PMID:25741868, PMID:26919706, PMID:27421841, 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