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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:chromosomal duplication syndrome
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Accession:DOID:0060429 term browser browse the term
Definition:A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO)
Synonyms:exact_synonym: Chromosomal Duplication;   Chromosome Duplication;   chromosomal duplications;   chromosome duplications
 primary_id: MESH:D058674
For additional species annotation, visit the Alliance of Genome Resources.


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acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169, PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO ClinVar Annotator: match by term: Acrocephalosyndactyly type I
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Apert syndrome
ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
ClinVar Annotator: match by OMIM:101200
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
CTD
PMID:7558045, PMID:7607643, PMID:7655462, PMID:7668257, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8650126, PMID:8651276, PMID:8696350, PMID:8755573, PMID:8946174, PMID:8957519, PMID:9002682, PMID:9150725, PMID:9462761, PMID:9475591, PMID:9502772, PMID:9677057, PMID:9700203, PMID:9719378, PMID:9973282, PMID:10394936, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12400058, PMID:12900900, PMID:14499350, PMID:15286168, PMID:15316116, PMID:15389579, PMID:15863034, PMID:15975938, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16531735, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:17694057, PMID:18552176, PMID:18618990, PMID:19186770, PMID:20133659, PMID:20301628, PMID:20489451, PMID:20503384, PMID:20856019, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22558232, PMID:22664175, PMID:23002168, PMID:23431754, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24036790, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25867380, PMID:25937001, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27079505, PMID:27683237, PMID:28492532, PMID:30311386, PMID:31145570, PMID:10735635, PMID:23532954, PMID:17694057, PMID:9677057, PMID:7668257 RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
CTD Direct Evidence: marker/mechanism
CTD PMID:15923834, PMID:23354436, PMID:8988166 RGD:1624353 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar
OMIM
PMID:20602916 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link
brachydactyly-syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome
ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610713
OMIM
ClinVar
CTD
PMID:9758628, PMID:12649808, PMID:17236141, PMID:18177473, PMID:18399101, PMID:19429598, PMID:19686284, PMID:21814222, PMID:22233338, PMID:23995701, PMID:24239177, PMID:25741868, PMID:26581570, PMID:30311386 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3322002, PMID:3993675, PMID:15129947, PMID:17503333, PMID:20358613, PMID:21412941, PMID:23599695, PMID:24458945, PMID:25168863, PMID:25741868, PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar Annotator: match by OMIM:201000
OMIM
ClinVar
PMID:3322002, PMID:3993675, PMID:15129947, PMID:17503333, PMID:20358613, PMID:21412941, PMID:23599695, PMID:24458945, PMID:25168863, PMID:25741868, PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar Annotator: match by OMIM:614976
OMIM
ClinVar
PMID:23063620, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome
ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII
ClinVar Annotator: match by term: Syndactyly Cenani Lenz type
ClinVar Annotator: match by OMIM:212780
OMIM
ClinVar
PMID:7891385, PMID:9182770, PMID:10756427, PMID:11260233, PMID:12868467, PMID:14577675, PMID:18978656, PMID:20381006, PMID:21471202, PMID:24234652, PMID:25119311, PMID:25741868, PMID:26751728, PMID:28492532, PMID:28559208 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
chromosome 17p13.3 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abr ABR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:64,565,121...64,657,079
Ensembl chr10:64,567,268...64,657,089
JBrowse link
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
JBrowse link
G Crk CRK proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,829,731...63,855,999
Ensembl chr10:63,829,807...63,852,780
JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,471,330...63,491,713
Ensembl chr10:63,471,331...63,491,713
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
JBrowse link
Chromosome 5, Trisomy 5q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,798,136...9,815,820
Ensembl chr17:9,797,907...9,816,139
JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,830,326...9,834,052
Ensembl chr17:9,830,332...9,839,452
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,834,245...9,837,285
Ensembl chr17:9,834,242...9,837,303
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,837,259...9,839,464
Ensembl chr17:9,830,332...9,839,452
JBrowse link
Chromosome 8, Trisomy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) RGD PMID:23643325 RGD:10769356 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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 Xq26.3 Duplication Syndrome 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: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:26935837 NCBI chr  X:159,484,953...159,510,944
Ensembl chr  X:159,505,344...159,511,021
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:26935837 NCBI chr  X:159,514,053...159,528,281
Ensembl chr  X:159,513,800...159,528,281
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:159,881,835...159,891,405
Ensembl chr  X:159,884,885...159,891,326
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome ClinVar PMID:25712922, PMID:26935837 NCBI chr  X:159,556,296...159,576,639 JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
PMID:3035184, PMID:10932188, PMID:11559849, PMID:11756979, PMID:12893758, PMID:16195396, PMID:16674562, PMID:17089422, PMID:18223281, PMID:19132250, PMID:19715471, PMID:23560673, PMID:24560896, PMID:28492532 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar
OMIM
PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779, PMID:28492532 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
Down syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr1a actin related protein 1A ISO protein:decreased expression:cortex RGD PMID:11829462 RGD:13831340 NCBI chr 1:266,123,864...266,142,621
Ensembl chr 1:266,123,870...266,142,538
JBrowse link
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:12054546 RGD:11570562 NCBI chr 4:145,330,457...145,340,985
Ensembl chr 4:145,330,457...145,340,984
JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO mRNA:decreased expression:amniotic fluid cell: RGD PMID:15716609 RGD:14398459 NCBI chr10:16,677,077...16,689,321
Ensembl chr10:16,677,077...16,689,321
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO protein:increased ubiquitination:frontal cortex (human) RGD PMID:25391381 RGD:11252150 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16289943 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Ctss cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Dbn1 drebrin 1 ISO protein:decreased expression:frontal cortex, temporal cortex: RGD PMID:12009525 RGD:10398822 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A treatment ISS
ISO
OMIM:190685
protein:increased expression:brain:
MouseDO PMID:23220201, PMID:18696092, PMID:28647555 RGD:14974030, RGD:14974029, RGD:14973377 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO mRNA:increased expression:brain (human) RGD PMID:10328528 RGD:13207452 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Fabp3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO protein:increased expression:cerebellum (human) RGD PMID:9328467 RGD:5143983 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Complete trisomy 21 syndrome OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO protein:decreased expression:brain (human) RGD PMID:11771757 RGD:13208830 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr 2:210,778,041...210,782,807
Ensembl chr 2:210,720,704...210,782,856
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12515899 RGD:10402838 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:blood: RGD PMID:9469274 RGD:12743600 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO protein:increased expression:hippocampus RGD PMID:22178330 RGD:6483052 NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,097,346...16,097,433 JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir802 microRNA 802 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:33,570,256...33,570,351
Ensembl chr11:33,570,256...33,570,351
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
JBrowse link
G Mirlet7c1 microRNA let-7c-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,052,873...16,052,966
Ensembl chr11:16,052,868...16,052,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:24519975 RGD:13204810 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
ISO DNA:SNP:cds:1958 G>A (rs2236225)(human)
protein:increased expression:brain:
DNA:SNP:cds:1958G>A(human)
RGD PMID:25671679, PMID:15068241, PMID:22339736 RGD:12910959, RGD:12914150, RGD:12910960 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
CTD PMID:16353284, PMID:16489479, PMID:16845273, PMID:17431899, PMID:16489479 RGD:11565177 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Down syndrome, susceptibility to ClinVar PMID:9501215, PMID:10444342, PMID:10500018, PMID:10930360, PMID:12375236, PMID:12923861, PMID:15797993, PMID:15979034, PMID:16013960, PMID:18368069, PMID:22992668, PMID:25227144, PMID:25741868 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Myl7 myosin light chain 7 ISO RGD PMID:12083776 RGD:1580934 NCBI chr14:86,144,770...86,147,075
Ensembl chr14:86,143,862...86,147,553
JBrowse link
G Napb NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16289943 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Pcnt pericentrin ISO RGD PMID:23979692, PMID:22552340 RGD:11537399, RGD:11537404 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr19:26,084,816...26,090,095
Ensembl chr19:26,084,903...26,090,094
JBrowse link
G Prdx6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Reln reelin ISO protein: increased expression: brain RGD PMID:20025970 RGD:13207521 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rplp0 ribosomal protein lateral stalk subunit P0 IEP protein:increased expression:brain RGD PMID:25261685 RGD:11039463 NCBI chr12:46,791,528...46,794,797
Ensembl chr12:46,791,528...46,794,797
JBrowse link
G S100b S100 calcium binding protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12888777 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16845273, PMID:17431899 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Snap25 synaptosome associated protein 25 ISO RGD PMID:12499044 RGD:1579958 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
G Sod1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism
CTD PMID:11181815, PMID:15464862 RGD:8655616 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Srsf4 serine and arginine rich splicing factor 4 ISO protein:increased expression:amniotic fluid (human) RGD PMID:16847874 RGD:11039402 NCBI chr 5:150,032,999...150,060,769
Ensembl chr 5:150,032,999...150,060,765
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:24519975 RGD:13204810 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tuba1a tubulin, alpha 1A ISO protein:decreased expression:brain: RGD PMID:21262400 RGD:12859084 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Vip vasoactive intestinal peptide ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:16289943, PMID:19037032 RGD:5685613 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1
ClinVar Annotator: match by OMIM:613573
OMIM
ClinVar
PMID:20691405, PMID:21346770, PMID:24577405, PMID:25529316, PMID:28492532 NCBI chr13:89,755,665...89,774,185
Ensembl chr13:89,755,845...89,774,378
JBrowse link
Filippi Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar
OMIM
PMID:8867657, PMID:15365457, PMID:18553552, PMID:25439729 NCBI chr 3:121,796,221...121,822,352
Ensembl chr 3:121,796,238...121,822,436
JBrowse link
Fraser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:219000 MouseDO NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar Annotator: match by OMIM:219000
ClinVar
OMIM
PMID:12766769, PMID:16783378, PMID:16894541, PMID:17163535, PMID:18671281, PMID:20301718, PMID:21900877, PMID:22029163, PMID:23532946, PMID:24476948, PMID:24551978, PMID:24583203, PMID:24700879, PMID:25353622, PMID:25741868, PMID:26893459, PMID:27280866, PMID:28492532, PMID:31319225, PMID:12766769 RGD:1598960 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar PMID:25741868, PMID:26275891, PMID:28492532 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 FRAS1 related extracellular matrix 2 IAGP
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 2 ClinVar
OMIM
PMID:15838507, PMID:18203166, PMID:18671281, PMID:24115501, PMID:25741868, PMID:26275891, PMID:28492532, PMID:29688405, PMID:30311386, PMID:30802441, PMID:21756877 RGD:13464328 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 RGD:13464328
Fraser syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923
JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar
OMIM
PMID:21383172, PMID:22510445, PMID:24033266, PMID:25741868, PMID:26539891, PMID:28492532 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:64,360,374...64,367,679
Ensembl chr10:64,360,390...64,366,586
JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:175700
OMIM
ClinVar
CTD
PMID:1879832, PMID:6641002, PMID:9302279, PMID:10441342, PMID:10441570, PMID:10678662, PMID:12414818, PMID:12794692, PMID:14608643, PMID:15739154, PMID:15811011, PMID:16740916, PMID:18000979, PMID:18154020, PMID:18241058, PMID:18435847, PMID:19829694, PMID:20583172, PMID:20672375, PMID:24736735, PMID:25606469, PMID:25741868, PMID:26508445, PMID:27231705, PMID:28492532, PMID:15739154, PMID:10441342, PMID:24736735, PMID:22903559 RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
hereditary mixed polyposis syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome 1 ClinVar PMID:22561515 NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:15654336, PMID:16501574, PMID:16630169, PMID:17213838, PMID:25741868 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:7558045, PMID:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8957519, PMID:9462761, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16501574, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:18056630, PMID:18414213, PMID:18552176, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26619011, PMID:28492532, PMID:30311386, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11055896, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16501574, PMID:16841094, PMID:17384684, PMID:17875876, PMID:18583390, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:25809207, PMID:26619011, PMID:26818779, PMID:28483234, PMID:28492532, PMID:30311386 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
myeloid leukemia associated with Down Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr19:37,600,151...37,649,674
Ensembl chr19:37,600,148...37,649,673
JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:94,231,585...94,254,046
Ensembl chr10:94,231,585...94,254,046
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome ClinVar PMID:12172547, PMID:14636651 RGD:10450612 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
JBrowse link
G Stag2 stromal antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
ClinVar Annotator: match by OMIM:164200
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)
ClinVar
CTD
OMIM
PMID:220941, PMID:1057461, PMID:2309863, PMID:4209752, PMID:7815444, PMID:10331943, PMID:11470490, PMID:12457340, PMID:15108203, PMID:15192806, PMID:15551259, PMID:15637728, PMID:15879313, PMID:16155213, PMID:16211004, PMID:16378922, PMID:16709485, PMID:17256797, PMID:17420259, PMID:17509830, PMID:17687502, PMID:18003637, PMID:18077386, PMID:18079109, PMID:18660473, PMID:18946008, PMID:19057520, PMID:19638688, PMID:19725242, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23550541, PMID:25741868, PMID:28492532, PMID:16219735, PMID:18003637, PMID:15637728, PMID:12457340, PMID:16155213 RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM
PMID:2309863, PMID:11470490, PMID:12457340, PMID:14974090, PMID:14981729, PMID:15192806, PMID:15879313, PMID:16531323, PMID:16816024, PMID:17901047, PMID:18003637, PMID:18946008, PMID:19057520, PMID:19338053, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23606748, PMID:25388818, PMID:25398053, PMID:25741868, PMID:27226478, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by null ClinVar PMID:10932188, PMID:11559849 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar
OMIM
PMID:25741868, PMID:27694961, PMID:32238909 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
JBrowse link
Pfeiffer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pfeiffer syndrome OMIM
ClinVar
PMID:7795583, PMID:7874169, PMID:10861678, PMID:10942429, PMID:14564217, PMID:14613973, PMID:16957473, PMID:24127277, PMID:24497711, PMID:25251565, PMID:28492532 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Pfeiffer syndrome
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5
ClinVar Annotator: match by term: ACS V
OMIM
ClinVar
PMID:7558045, PMID:7581378, PMID:7607643, PMID:7655462, PMID:7668257, PMID:7719333, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7795583, PMID:7874170, PMID:7987400, PMID:8434615, PMID:8528214, PMID:8644708, PMID:8650126, PMID:8651276, PMID:8755573, PMID:8946174, PMID:8957519, PMID:8958319, PMID:9150725, PMID:9385368, PMID:9462761, PMID:9475591, PMID:9586546, PMID:9605588, PMID:9677057, PMID:9700203, PMID:9714439, PMID:9719378, PMID:10076886, PMID:10076887, PMID:10394936, PMID:10406670, PMID:10541159, PMID:10633130, PMID:10851026, PMID:10874645, PMID:10945669, PMID:11121055, PMID:11325814, PMID:11390973, PMID:11781872, PMID:11807866, PMID:12124745, PMID:12400058, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15282208, PMID:15286168, PMID:15316116, PMID:15389579, PMID:15523615, PMID:15975938, PMID:15996217, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:17803937, PMID:18391498, PMID:18552176, PMID:18618990, PMID:19066959, PMID:20133659, PMID:20301628, PMID:20489451, PMID:20503384, PMID:21367659, PMID:22238366, PMID:22558232, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23431754, PMID:23495007, PMID:23546041, PMID:23786770, PMID:23908597, PMID:24036790, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25361936, PMID:25741868, PMID:25759925, PMID:25759927, PMID:25867380, PMID:26289989, PMID:26362256, PMID:26380986, PMID:26619011, PMID:27028366, PMID:27481450, PMID:27683237, PMID:28492532, PMID:30311386, PMID:31145570, PMID:270283566 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome
ClinVar Annotator: match by OMIM:119500
OMIM
ClinVar
PMID:12219090, PMID:14757865, PMID:18478600, PMID:18617879, PMID:19036739, PMID:20803643, PMID:22488974, PMID:25547932, PMID:25548624, PMID:25691407, PMID:28492532, PMID:29453417 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
ISS
ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
ClinVar
MouseDO
NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
JBrowse link
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome
ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by OMIM:263650
OMIM
ClinVar
PMID:10925380, PMID:15264293, PMID:22197488, PMID:22197489, PMID:23074676, PMID:23610050, PMID:25326635, PMID:25741868, PMID:26752647, PMID:28492532, PMID:28940926 NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
JBrowse link
Potocki-Lupski syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:48,150,902...48,210,074
Ensembl chr10:48,150,902...48,210,074
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,525,486...47,546,535
Ensembl chr10:47,525,493...47,546,345
JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,906,314...46,927,759
Ensembl chr10:46,906,115...46,930,579
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,768,539...46,783,889
Ensembl chr10:46,768,539...46,783,889
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,182,680...46,206,083
Ensembl chr10:46,182,687...46,206,135
JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,712,021...46,762,276
Ensembl chr10:46,722,109...46,762,250
JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,818,412...46,831,308
Ensembl chr10:46,818,525...46,830,739
JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,795,496...47,857,373
Ensembl chr10:47,795,524...47,857,326
JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,960,735...47,984,083
Ensembl chr10:47,961,056...47,983,724
JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:49,259,050...49,296,714
Ensembl chr10:49,259,194...49,296,663
JBrowse link
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Potocki-Lupski syndrome
ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2
CTD
ClinVar
PMID:15805188, PMID:15852235, PMID:18234728, PMID:19457309, PMID:19802896, PMID:20618353, PMID:21937013, PMID:23050938, PMID:24393238, PMID:24728327, PMID:25594584, PMID:25741868, PMID:28492532, PMID:28558743, PMID:28837307 NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,955,460...46,969,468
Ensembl chr10:46,955,487...46,969,406
JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,784,124...46,810,517
Ensembl chr10:46,783,979...46,810,524
JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,930,633...47,949,774
Ensembl chr10:47,930,633...47,949,773
JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,940,873...46,955,524
Ensembl chr10:46,940,965...46,954,674
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,768,592...47,775,130
Ensembl chr10:47,766,680...47,775,055
JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,314,639...46,329,374
Ensembl chr10:46,314,375...46,329,373
JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,765,463...47,768,484
Ensembl chr10:47,765,432...47,768,483
JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,969,531...46,975,572
Ensembl chr10:46,972,038...46,974,806
JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,018,397...46,133,580
Ensembl chr10:46,018,659...46,133,571
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,216,494...46,244,478
Ensembl chr10:46,216,884...46,243,077
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,339,821...46,404,640
Ensembl chr10:46,339,821...46,404,642
JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,142,313...46,145,774
Ensembl chr10:46,142,801...46,145,548
JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:48,008,799...48,044,435
Ensembl chr10:48,008,802...48,044,344
JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2
CTD
ClinVar
PMID:17517686, PMID:28837307 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,330,361...46,339,326
Ensembl chr10:46,330,368...46,332,172
JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,719,034...47,726,050
Ensembl chr10:47,719,014...47,725,172
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,631,425...47,685,379
Ensembl chr10:47,632,192...47,666,921
JBrowse link
G Slc47a2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,587,909...47,631,373
Ensembl chr10:47,588,497...47,630,799
JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,949,775...47,997,802
Ensembl chr10:47,949,665...47,997,796
JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,019,326...47,026,465
Ensembl chr10:47,018,974...47,026,465
JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:48,240,291...48,542,171
Ensembl chr10:48,240,127...48,542,292
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,599,392...46,720,921
Ensembl chr10:46,602,231...46,720,910
JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,980,646...47,018,728
Ensembl chr10:46,981,958...47,018,537
JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:49,299,125...49,312,814
Ensembl chr10:49,299,125...49,310,400
JBrowse link
G Ulk2 unc-51 like autophagy activating kinase 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:48,050,079...48,129,377
Ensembl chr10:48,050,803...48,129,377
JBrowse link
Robinow Sorauf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Robinow-Sorauf syndrome
ClinVar Annotator: match by OMIM:180750
OMIM
ClinVar
PMID:1240778, PMID:10465122, PMID:12791045, PMID:16251895, PMID:18391498, PMID:28492532 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
Saethre-Chotzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome
ClinVar Annotator: match by term: Chotzen syndrome
ClinVar Annotator: match by term: ACS III
ClinVar
OMIM
PMID:7558045, PMID:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8957519, PMID:9462761, PMID:9585583, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12124745, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:18552176, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:28492532, PMID:30311386, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar PMID:1956068, PMID:4078868, PMID:7670477, PMID:7847369, PMID:8723106, PMID:8841188, PMID:8845844, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9450868, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9677066, PMID:9843059, PMID:9950359, PMID:10053006, PMID:10094188, PMID:10213050, PMID:10602123, PMID:10777366, PMID:10861678, PMID:11424131, PMID:11746040, PMID:12707965, PMID:14613973, PMID:15241680, PMID:15915095, PMID:16501574, PMID:17033969, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:19098178, PMID:19215249, PMID:19449410, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24728327, PMID:24864036, PMID:25356217, PMID:25741868, PMID:25931420, PMID:26028288, PMID:26740388, PMID:28492532, PMID:32238909 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:8968762, PMID:8988166, PMID:8988167, PMID:9259286, PMID:9934984, PMID:10649491, PMID:11248247, PMID:11474656, PMID:11754069, PMID:11977182, PMID:19373776, PMID:20643727, PMID:24127277, PMID:25741868, PMID:25741869, PMID:28492532, PMID:31837199 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
sclerosteosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11179006 RGD:68858 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Sclerosteosis 1 ClinVar
OMIM
PMID:9712543, PMID:11179006, PMID:11181578, PMID:28492532 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
JBrowse link
sclerosteosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Sclerosteosis 2
ClinVar Annotator: match by OMIM:614305
OMIM
ClinVar
PMID:7891385, PMID:11385236, PMID:21471202, PMID:24234652, PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
split hand-foot malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 3 OMIM
ClinVar
PMID:28492532 NCBI chr 1:265,318,526...265,420,503
Ensembl chr 1:265,318,526...265,420,503
JBrowse link
Stapes Ankylosis with Broad Thumbs and Toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES ClinVar
OMIM
PMID:9851982, PMID:10069712, PMID:11160400, PMID:11857750, PMID:12089654, PMID:17668388, PMID:18440889 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
syndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 5:25,732,457...25,750,953
Ensembl chr 5:25,732,644...25,750,826
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:15717203, PMID:18485326, PMID:25741868, PMID:28492532 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Fbn2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly
ClinVar Annotator: match by term: Syndactyly
ClinVar PMID:25741868, PMID:30311386 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) RGD PMID:25267529 RGD:12738225 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Irf6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 RGD PMID:12219090 RGD:1600214 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:30311386 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Non-syndromic syndactyly ClinVar PMID:25741868 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
JBrowse link
syndactyly type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ihh Indian hedgehog signaling molecule ISO DNA:duplications RGD PMID:21167467 RGD:12910956 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
syndactyly type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Syndactyly type 3
ClinVar Annotator: match by OMIM:186100
OMIM
ClinVar
PMID:2157843, PMID:11470490, PMID:14729836, PMID:15192806, PMID:18079109, PMID:21215473, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:25741868, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
syndactyly type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:1849351, PMID:18417549, PMID:19847792 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
syndactyly type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Syndactyly, type V ClinVar NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:missense mutation:exon:p.Q317R (c.950A>G)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:186300
OMIM
CTD
ClinVar
PMID:16222680, PMID:17236141, PMID:24239177, PMID:17236141 RGD:12738470 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
syndactyly type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Metacarpal 4-5 fusion OMIM
ClinVar
PMID:23709756, PMID:24878828 NCBI chr  X:76,786,728...76,796,311
Ensembl chr  X:76,786,466...76,797,069
JBrowse link
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Syndactyly type 9 OMIM
ClinVar
PMID:9783716, PMID:15039974, PMID:25466284 NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
JBrowse link
syndactyly-telecanthus-anogenital and renal malformations syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnq cyclin Q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300707
OMIM
CTD
ClinVar
PMID:8818947, PMID:18297069 NCBI chr10:66,019,519...66,020,682
Ensembl chr10:66,019,520...66,020,682
JBrowse link
syndromic X-linked intellectual disability Lubs type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938
JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Acot9 acyl-CoA thioesterase 9 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:43,543,069...43,592,200
Ensembl chr  X:43,543,070...43,592,200
JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944
JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:133,227,699...133,229,052
Ensembl chr  X:133,227,660...133,229,047
JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:159,286,775...159,437,536
Ensembl chr  X:159,427,745...159,437,453
JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:153,539,951...154,051,022
Ensembl chr  X:153,539,668...154,051,181
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:123,773,430...123,788,898
Ensembl chr  X:123,773,430...123,788,898
JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:16,296,027...16,306,078
Ensembl chr  X:16,296,735...16,306,078
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:115,561,329...115,589,792
Ensembl chr  X:115,561,332...115,619,505
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:64,686,620...64,702,504
Ensembl chr  X:64,686,623...64,702,441
JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:114,129,829...114,233,013
Ensembl chr  X:114,131,898...114,232,939
JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:116,751,231...116,810,238
Ensembl chr  X:116,751,230...116,792,864
JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:32,329,883...32,376,301
Ensembl chr  X:32,329,598...32,355,307
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:23,146,085...23,166,676
Ensembl chr  X:23,146,085...23,166,675
JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Apoo apolipoprotein O ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:63,521,033...63,625,134
Ensembl chr  X:63,520,991...63,625,134
JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:83,678,269...83,750,550
Ensembl chr  X:83,678,339...83,750,549
JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:1,369,534...1,391,603
Ensembl chr  X:1,379,194...1,390,873
JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:136,460,227...136,495,646
Ensembl chr  X:136,460,215...136,495,646
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:159,722,031...159,841,344
Ensembl chr  X:159,723,866...159,841,072
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592
JBrowse link
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,010,943...105,039,720
Ensembl chr  X:105,011,489...105,037,801
JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,535,670...105,539,575
Ensembl chr  X:105,537,602...105,539,375
Ensembl chr  X:105,537,602...105,539,375
JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,617,383...105,622,209
Ensembl chr  X:105,617,385...105,622,156
JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,573,909...105,577,480
Ensembl chr  X:105,573,909...105,580,562
JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,497,277...105,507,636
Ensembl chr  X:105,500,173...105,507,288
JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:106,252,677...106,255,383
Ensembl chr  X:106,253,355...106,255,058
JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,565,733...105,573,387
Ensembl chr  X:105,565,747...105,568,343
JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,438,590...70,452,140
Ensembl chr  X:70,438,617...70,452,067
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:31,758,294...31,781,863
Ensembl chr  X:31,700,633...31,780,425
JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:64,714,337...64,800,662
Ensembl chr  X:64,714,335...64,800,435
JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:112,328,907...112,403,157 JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:143,340,712...143,525,588
Ensembl chr  X:143,346,252...143,453,612
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:124,631,544...124,652,520
Ensembl chr  X:124,631,881...124,652,975
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 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 Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,408,124...70,414,369
Ensembl chr  X:70,408,064...70,414,368
JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,224,761...70,233,021
Ensembl chr  X:70,224,654...70,270,693
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:38,294,009...38,353,525
Ensembl chr  X:38,295,365...38,353,461
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:106,556,838...106,558,366
Ensembl chr  X:106,556,838...106,558,366
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:106,823,442...106,825,016
Ensembl chr  X:106,823,491...106,825,014
JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868
G Bgn biglycan ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,319,042...157,331,204
Ensembl chr  X:157,319,046...157,331,204
JBrowse link
G Bhlhb9 basic helix-loop-helix family member B9 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:106,359,981...106,393,457
Ensembl chr  X:106,390,759...106,393,459
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:31,976,231...32,046,326
Ensembl chr  X:31,984,612...32,045,448
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:159,484,953...159,510,944
Ensembl chr  X:159,505,344...159,511,021
JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:79,817,968...79,909,891
Ensembl chr  X:79,824,782...79,909,678
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:124,921,686...124,926,171
Ensembl chr  X:124,921,728...124,926,171
JBrowse link
G Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:32,232,106...32,291,124
Ensembl chr  X:32,232,142...32,292,072
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:115,049,113...115,073,824
Ensembl chr  X:115,049,154...115,073,890
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,610,230...15,616,727
Ensembl chr  X:15,598,652...15,617,665
JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:140,168,880...140,177,402
Ensembl chr  X:140,175,861...140,176,829
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:16,300,752...16,402,206
Ensembl chr  X:16,337,102...16,402,202
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr10:66,019,519...66,020,682
Ensembl chr10:66,019,520...66,020,682
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr15:5,265,257...5,311,232
Ensembl chr15:5,265,307...5,311,233
Ensembl chr15:5,265,307...5,311,233
JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:1,707,285...1,718,821
Ensembl chr  X:1,707,289...1,718,637
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cdr1 cerebellar degeneration related protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:144,326,497...144,330,364 JBrowse link
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:74,165,172...74,173,758
Ensembl chr  X:74,165,187...74,173,347
JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,147,045...105,198,798
Ensembl chr  X:105,147,153...105,198,797
JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:152,927,852...152,933,095
Ensembl chr  X:152,927,718...152,932,953
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:46,553,745...46,680,769
NCBI chr  X:46,701,342...46,767,826
JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:1,311,121...1,316,683
Ensembl chr  X:1,311,121...1,316,682
JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:74,205,649...74,250,613
Ensembl chr  X:74,200,972...74,244,846
JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:84,666,900...84,821,775
Ensembl chr  X:84,666,900...84,821,775
JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:114,554,359...114,658,975
Ensembl chr  X:114,554,359...114,658,931
JBrowse link
G Chst7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:2,623,018...2,657,155
Ensembl chr  X:2,623,024...2,657,155
JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:72,128,996...72,133,692
Ensembl chr  X:72,128,994...72,133,692
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:111,122,552...111,133,188
Ensembl chr  X:111,122,552...111,137,769
JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:32,118,082...32,153,687
Ensembl chr  X:32,118,054...32,153,794
JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr16:69,878,513...69,899,075 JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:39,711,001...39,953,860
Ensembl chr  X:39,711,201...39,951,847
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:49,243,273...49,244,985 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:104,882,726...104,909,746
Ensembl chr  X:104,882,704...104,909,739
JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:123,023,288...123,041,024
Ensembl chr  X:123,023,280...123,025,628
JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:73,512,835...73,525,680
Ensembl chr  X:73,513,028...73,525,650
JBrowse link
G Ctps2 CTP synthase 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:33,383,087...33,522,852
Ensembl chr  X:33,383,087...33,522,836
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G CXHXorf65 chromosome X open reading frame, human CXorf65 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,162,006...71,165,279 JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:82,217,133...82,302,106
Ensembl chr  X:82,217,143...82,302,094
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269
JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:84,924,570...85,484,150
Ensembl chr  X:85,338,928...85,483,719
JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:131,340,045...131,344,038
Ensembl chr  X:131,340,045...131,343,853
JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:130,823,651...130,825,369
Ensembl chr  X:130,823,866...130,825,305
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,354,357...70,377,887
Ensembl chr  X:70,354,360...70,377,825
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:16,441,318...16,526,046
Ensembl chr  X:16,442,899...16,537,888
JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:99,722,910...100,363,228 JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 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 ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,596,246...70,648,529
Ensembl chr  X:70,596,576...70,648,532
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:72,624,660...72,654,258 JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:72,684,315...72,691,535
Ensembl chr  X:72,684,329...72,691,535
JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:111,389,557...111,439,399
Ensembl chr  X:111,396,995...111,439,376
JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:122,507,169...122,690,463
Ensembl chr  X:122,507,374...122,690,465
JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,239,623...105,290,233
Ensembl chr  X:105,239,620...105,289,808
JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:4,956,699...4,957,555
Ensembl chr  X:4,956,699...4,957,529
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,168,143...157,172,068
Ensembl chr  X:157,168,144...157,172,068
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:14,633,342...14,642,356
Ensembl chr  X:14,633,342...14,642,424
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:66,560,200...66,602,509
Ensembl chr  X:66,561,286...66,602,506
JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:5,825,551...6,026,398
Ensembl chr  X:5,825,711...6,026,398
JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:68,891,227...68,904,034
Ensembl chr  X:68,891,227...68,904,038
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:37,579,959...37,595,300
Ensembl chr  X:37,579,957...37,595,486
JBrowse link
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:63,268,106...63,291,125
Ensembl chr  X:63,268,037...63,292,092
JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:135,239,626...135,284,330
Ensembl chr  X:135,240,451...135,250,519
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:1,287,875...1,304,822
Ensembl chr  X:1,297,099...1,304,822
JBrowse link
G Enox2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:135,918,938...136,303,267
Ensembl chr  X:135,918,929...136,303,249
JBrowse link
G Eola2 endothelium and lymphocyte associated ASCH domain 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr 8:69,484,134...69,488,998
Ensembl chr 8:69,484,174...69,489,891
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,318,215...15,322,601
Ensembl chr  X:15,419,028...15,423,414
Ensembl chr  X:15,419,028...15,423,414
JBrowse link
G Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:72,018,373...72,034,140
Ensembl chr  X:72,018,373...72,034,099
JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:107,753,614...107,763,561 JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G Fam104b family with sequence similarity 104, member B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:20,821,296...20,849,672
Ensembl chr  X:20,733,922...20,866,251
JBrowse link
G FAM120C family with sequence similarity 120C ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:20,481,800...21,016,980
Ensembl chr  X:20,484,517...21,015,836
JBrowse link
G Fam122b family with sequence similarity 122B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,853,453...157,879,939
Ensembl chr  X:157,854,272...157,879,928
JBrowse link
G Fam122c family with sequence similarity 122C ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,786,558...157,848,875
Ensembl chr  X:157,786,730...157,848,842
JBrowse link
G Fam133a family with sequence similarity 133, member A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:95,062,119...95,235,281 JBrowse link
G Fam155b family with sequence similarity 155, member B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:69,579,968...69,605,032
Ensembl chr  X:69,580,015...69,605,032
JBrowse link
G Fam156b family with sequence similarity 156, member B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:20,804,902...20,809,295
Ensembl chr  X:20,806,602...20,807,216
JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:107,695,491...107,723,594
Ensembl chr  X:107,695,491...107,723,594
JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:45,965,258...45,966,930
Ensembl chr  X:45,965,301...45,966,934
JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 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 Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:142,053,648...142,589,274
Ensembl chr  X:142,053,654...142,248,369
JBrowse link
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:76,786,728...76,796,311
Ensembl chr  X:76,786,466...76,797,069
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Fmr1nb FMR1 neighbor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:154,631,546...154,653,777
Ensembl chr  X:154,631,547...154,653,758
JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,155,284...71,162,158
Ensembl chr  X:71,155,601...71,162,158
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Foxr2 forkhead box R2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:19,142,671...19,243,293
Ensembl chr  X:19,144,501...19,145,409
JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:138,095,707...138,149,702
Ensembl chr  X:138,098,185...138,148,967
JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:111,689,587...111,778,943 JBrowse link
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:53,628,946...53,629,936
Ensembl chr  X:53,629,255...53,629,803
JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:14,993,685...15,006,010
Ensembl chr  X:14,994,016...15,002,074
JBrowse link
G Ftx FTX transcript, XIST regulator ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:74,440,265...74,484,164 JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:5,549,468...5,566,125
Ensembl chr  X:5,549,419...5,566,127
JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:152,414,332...152,642,607
Ensembl chr  X:152,414,615...152,642,531
JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:152,220,180...152,237,347
Ensembl chr  X:152,218,707...152,237,361
JBrowse link
G Gabrq gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:152,852,230...152,869,012
Ensembl chr  X:152,852,506...152,864,975
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,563,381...70,572,295
Ensembl chr  X:70,563,570...70,572,295
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329
JBrowse link
G Gnl3l G protein nucleolar 3 like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:20,037,558...20,070,505
Ensembl chr  X:20,034,882...20,070,578
JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,636,567...15,651,332
Ensembl chr  X:15,636,563...15,651,332
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
JBrowse link
G Gpr119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:135,515,545...135,521,598
Ensembl chr  X:135,515,545...135,521,598
JBrowse link
G Gpr173 G-protein coupled receptor 173 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:22,417,753...22,418,873
Ensembl chr  X:22,417,753...22,418,873
JBrowse link
G Gpr174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:78,358,347...78,399,944
Ensembl chr  X:78,372,257...78,399,944
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:10,022,986...10,043,504
Ensembl chr  X:10,023,489...10,031,167
JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr17:36,771,578...36,776,225
Ensembl chr17:36,771,639...36,776,225
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:9,992,832...10,001,036
Ensembl chr  X:9,998,415...9,999,401
JBrowse link
G Gprasp1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:106,306,795...106,313,904
Ensembl chr  X:106,306,795...106,313,853
JBrowse link
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:106,357,240...106,363,455
Ensembl chr  X:106,360,393...106,363,300
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:127,561,843...127,829,763
Ensembl chr  X:127,562,660...127,829,753
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,523,929...15,553,702
Ensembl chr  X:15,523,929...15,553,720
JBrowse link
G Grpr gastrin releasing peptide receptor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:32,746,259...32,786,266
Ensembl chr  X:32,745,873...32,786,359
JBrowse link
G Gspt2 G1 to S phase transition 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:63,959,131...63,961,652
Ensembl chr  X:63,954,727...63,961,613
JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:113,372,240...113,474,210
Ensembl chr  X:113,372,240...113,474,164
JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,347,222...157,372,796
Ensembl chr  X:157,353,577...157,372,809
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Hdx highly divergent homeobox ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:82,847,895...83,151,516
Ensembl chr  X:82,875,339...83,151,511
JBrowse link
G Heph hephaestin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:65,377,313...65,658,479
Ensembl chr  X:65,563,122...65,658,516
JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr17:36,690,190...36,694,329
Ensembl chr17:36,690,249...36,694,325
Ensembl chr14:36,690,249...36,694,325
JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:80,134,557...80,142,902
Ensembl chr  X:80,134,557...80,142,902
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,417,603...105,423,531
Ensembl chr  X:105,419,285...105,422,861
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:138,675,326...138,972,774
Ensembl chr  X:138,677,580...138,972,684
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:159,514,053...159,528,281
Ensembl chr  X:159,513,800...159,528,281
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:118,084,520...118,318,040
Ensembl chr  X:118,084,890...118,318,039
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:21,474,627...21,603,348
Ensembl chr  X:21,499,934...21,598,876
JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:13,989,401...13,989,955
Ensembl chr  X:13,989,401...13,989,955
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
JBrowse link
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,322,764...70,345,005
Ensembl chr  X:70,322,755...70,345,005
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:122,724,081...122,783,801
Ensembl chr  X:122,724,129...122,781,479
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:55,439,388...57,004,865
Ensembl chr  X:55,439,578...56,765,893
JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:108,287,034...109,851,075
Ensembl chr  X:108,287,068...109,851,047
JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,165,378...71,169,078
Ensembl chr  X:71,162,585...71,169,865
JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:158,835,334...158,887,055
Ensembl chr  X:158,835,811...158,886,220
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:113,003,824...113,018,088 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,342,770...71,347,623
Ensembl chr  X:71,342,775...71,347,619
JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family, member 6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868
G Itm2a integral membrane protein 2A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:78,490,872...78,496,814
Ensembl chr  X:78,490,866...78,496,847
JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:1,885,927...2,038,639
Ensembl chr  X:1,885,927...1,952,111
JBrowse link
G Jpx JPX transcript, XIST activator ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:74,360,739...74,410,973 JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,506,724...15,520,712
Ensembl chr  X:15,506,724...15,520,712
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:113,583,844...113,584,459
Ensembl chr  X:113,583,844...113,584,459
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189
JBrowse link
G Klf8 Kruppel-like factor 8 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:18,836,902...19,032,012
Ensembl chr  X:18,835,827...18,890,090
JBrowse link
G Klhl13 kelch-like family member 13 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:121,578,965...121,735,014
Ensembl chr  X:121,578,940...121,731,543
JBrowse link
G Klhl15 kelch-like family member 15 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:63,342,277...63,390,915
Ensembl chr  X:63,343,546...63,389,989
JBrowse link
G Klhl34 kelch-like family member 34 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:39,952,576...39,956,856
Ensembl chr  X:39,954,904...39,956,841
JBrowse link
G Klhl4 kelch-like family member 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:86,125,929...86,229,565
Ensembl chr  X:86,126,157...86,229,563
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lancl3 LanC like 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:14,358,224...14,490,340
Ensembl chr  X:14,358,224...14,490,340
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:65,081,591...65,102,344
Ensembl chr  X:65,081,591...65,102,380
JBrowse link
G Ldoc1 LDOC1, regulator of NFKB signaling ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:144,699,737...144,778,947 JBrowse link
G Lhfpl1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:116,578,521...116,638,648
Ensembl chr  X:116,578,527...116,638,508
JBrowse link
G LOC100361265 rCG64283-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,676,810...71,681,062
Ensembl chr  X:71,677,455...71,681,073
JBrowse link
G LOC100363372 zinc finger protein 81 (HFZ20)-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:1,034,455...1,112,282
Ensembl chr  X:1,031,035...1,076,850
JBrowse link
G LOC100364002 reproductive homeobox 9-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:123,999,683...124,002,081
Ensembl chr  X:123,999,683...124,002,073
JBrowse link
G LOC100909485 spindlin-2-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:18,340,413...18,342,492
Ensembl chr  X:18,340,688...18,341,467
JBrowse link
G LOC100912195 protein BEX1-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr 1:116,565,779...116,567,283
Ensembl chr 1:116,565,790...116,567,189
JBrowse link
G LOC102551035 serine/arginine repetitive matrix protein 4-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:65,335,316...65,336,069
Ensembl chr  X:65,335,469...65,335,987
JBrowse link
G LOC684932 similar to Zinc finger protein 75 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:72,906,565...72,912,322 JBrowse link
G LOC685700 hypothetical protein LOC685700 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:63,452,345...63,520,836
Ensembl chr  X:63,452,342...63,520,836
JBrowse link
G LOC688842 hypothetical protein LOC688842 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:143,554,334...143,596,247
Ensembl chr  X:143,554,441...143,558,521
JBrowse link
G LOC691895 similar to ferritin, heavy polypeptide-like 17 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:14,782,958...14,783,792
Ensembl chr  X:14,782,958...14,783,792
JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:122,937,987...122,973,289
Ensembl chr  X:122,938,009...122,973,321
JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:78,042,859...78,056,347
Ensembl chr  X:78,042,859...78,056,347
JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:118,532,396...118,615,845
Ensembl chr  X:118,534,912...118,615,798
JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:118,725,749...118,766,413 JBrowse link
G Magea10 MAGE family member A10 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:152,365,785...152,371,961
Ensembl chr  X:152,366,893...152,367,861
JBrowse link
G Magea9 MAGE family member A9 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:147,491,247...147,496,650
Ensembl chr  X:147,493,880...147,496,649
JBrowse link
G Mageb1 melanoma antigen family B, 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:54,892,482...54,931,144 JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:46,977,655...47,026,377
Ensembl chr  X:46,977,655...47,078,128
JBrowse link
G Mageb18 MAGE family member B18 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:61,229,831...61,232,133
Ensembl chr  X:61,229,831...61,232,085
JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:54,804,987...54,806,956 JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:54,843,202...54,844,197
Ensembl chr  X:54,843,096...54,844,197
JBrowse link
G Mageb5 MAGE family member B5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:60,849,005...60,852,583
Ensembl chr  X:60,849,014...60,852,583
JBrowse link
G Mageb6 MAGE family member B6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:60,863,372...60,864,521
Ensembl chr  X:60,863,453...60,864,478
JBrowse link
G Magec2 MAGE family member C2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:145,353,959...145,362,427
Ensembl chr  X:145,357,553...145,362,426
JBrowse link
G Maged1 MAGE family member D1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:63,803,194...63,809,715
Ensembl chr  X:63,803,189...63,809,861
JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715
JBrowse link
G Magee1 MAGE family member E1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:76,083,553...76,087,100
Ensembl chr  X:76,083,549...76,087,117
JBrowse link
G Magee2 MAGE family member E2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:75,737,684...75,795,206
Ensembl chr  X:75,792,931...75,795,055
JBrowse link
G Mageh1 MAGE family member H1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:19,243,759...19,245,015
Ensembl chr  X:19,243,759...19,245,007
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,669,191...15,676,051
Ensembl chr  X:15,669,191...15,676,050
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
JBrowse link
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:37,342,251...37,755,373 JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:38,400,578...38,467,825
Ensembl chr  X:38,397,261...38,468,360
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:159,176,825...159,207,167
Ensembl chr  X:159,176,680...159,244,879
JBrowse link
G Mbnl3 muscleblind-like splicing regulator 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:138,378,674...138,473,365
Ensembl chr  X:138,384,912...138,435,391
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:143,159,071...143,292,467
Ensembl chr  X:143,154,209...143,274,180
JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:124,894,269...124,906,129
Ensembl chr  X:124,894,466...124,906,162
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE
ClinVar Annotator: match by term: Mental retardation, X-linked, Lubs type
ClinVar Annotator: match by term: MECP2 duplication syndrome
ClinVar Annotator: match by OMIM:300260
OMIM
ClinVar
PMID:1057790, PMID:1241840, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10814719, PMID:10852707, PMID:10854091, PMID:10944834, PMID:10944854, PMID:10991688, PMID:10991689, PMID:11007980, PMID:11035019, PMID:11055898, PMID:11058114, PMID:11071498, PMID:11214906, PMID:11227330, PMID:11238684, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11309367, PMID:11309679, PMID:11313756, PMID:11313764, PMID:11376998, PMID:11392517, PMID:11402105, PMID:11446411, PMID:11462237, PMID:11469283, PMID:11524741, PMID:11738860, PMID:11738864, PMID:11738866, PMID:11738879, PMID:11738883, PMID:11738885, PMID:11746022, PMID:11772708, PMID:11805248, PMID:11885030, PMID:11896459, PMID:11913567, PMID:11960578, PMID:12065946, PMID:12075485, PMID:12111643, PMID:12180070, PMID:12325019, PMID:12325033, PMID:12567420, PMID:12615169, PMID:12746405, PMID:12843318, PMID:12872250, PMID:12966523, PMID:14560307, PMID:14598336, PMID:15057977, PMID:15173251, PMID:15287421, PMID:15389714, PMID:15526954, PMID:15557528, PMID:15558314, PMID:15689435, PMID:15737703, PMID:15866439, PMID:16077729, PMID:16080119, PMID:16169931, PMID:16183801, PMID:16376510, PMID:16473305, PMID:16629931, PMID:16672765, PMID:16690727, PMID:16763963, PMID:16832102, PMID:16844334, PMID:16905679, PMID:17089071, PMID:17172942, PMID:17236109, PMID:17267601, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17881312, PMID:17914728, PMID:17986102, PMID:18174548, PMID:18174559, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18499664, PMID:18989701, PMID:19133691, PMID:19217433, PMID:19309269, PMID:19442733, PMID:19552836, PMID:19573459, PMID:19652677, PMID:19722030, PMID:19914908, PMID:20031356, PMID:20116947, PMID:20151026, PMID:20231667, PMID:20301670, PMID:20503343, PMID:20625242, PMID:20631224, PMID:20661168, PMID:21154482, PMID:21160487, PMID:21420494, PMID:21575601, PMID:21764336, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22476991, PMID:22497713, PMID:22525432, PMID:23238081, PMID:23262346, PMID:23270700, PMID:23421866, PMID:23452848, PMID:23810759, PMID:23921973, PMID:24033266, PMID:24328834, PMID:24399845, PMID:24458799, PMID:25473036, PMID:25634563, PMID:25741868, PMID:26175308, PMID:26347316, PMID:26350204, PMID:26418480, PMID:26467025, PMID:26647311, PMID:26741492, PMID:27255190, PMID:27354166, PMID:27465203, PMID:27799067, PMID:27929079, PMID:28492532, PMID:30311386, 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 Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:10,964,035...11,082,403
Ensembl chr  X:10,963,809...11,082,565
JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:13,114,557...13,119,274
Ensembl chr  X:13,114,569...13,116,743
JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:112,019,897...112,121,980
Ensembl chr  X:112,020,646...112,121,943
JBrowse link
G Mir105 microRNA 105 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:152,585,531...152,585,603
Ensembl chr  X:152,585,531...152,585,603
JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:140,117,891...140,117,968
Ensembl chr  X:140,117,891...140,117,968
JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:140,117,379...140,117,474
Ensembl chr  X:140,117,379...140,117,474
JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:3,684,480...3,684,588
Ensembl chr  X:3,684,480...3,684,588
JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:3,683,919...3,684,021
Ensembl chr  X:3,683,919...3,684,021
JBrowse link
G Mir223 microRNA 223 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mir224 microRNA 224 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:152,223,754...152,223,835
Ensembl chr  X:152,223,754...152,223,835
JBrowse link
G Mir322 microRNA 322 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:158,148,161...158,148,255
Ensembl chr  X:158,148,161...158,148,255
JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:118,277,684...118,277,795
Ensembl chr  X:118,277,684...118,277,795
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:16,121,332...16,121,411
Ensembl chr  X:16,121,322...16,121,413
JBrowse link
G Mir503 microRNA 503 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:158,148,476...158,148,546
Ensembl chr  X:158,148,476...158,148,546
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:16,109,870...16,109,948
Ensembl chr  X:16,109,870...16,109,948
JBrowse link
G Mir98 microRNA 98 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:21,583,875...21,583,982
Ensembl chr  X:21,583,875...21,583,982
JBrowse link
G Mirlet7f2 microRNA let-7f-2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:21,583,272...21,583,354
Ensembl chr  X:21,583,272...21,583,354
JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:158,966,694...158,978,995
Ensembl chr  X:158,966,673...158,978,995
JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:111,143,537...111,191,993
Ensembl chr  X:111,142,602...111,191,936
JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:107,394,468...107,405,564
Ensembl chr  X:107,394,486...107,405,564
JBrowse link
G Mospd1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,745,939...157,774,505
Ensembl chr  X:157,759,624...157,773,108
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:11,098,849...11,105,312 JBrowse link
G Msn moesin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:65,226,834...65,294,192
Ensembl chr  X:65,226,748...65,295,810
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr18:291,785...325,415
Ensembl chr18:291,780...325,377
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:73,997,274...73,999,677 JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:95,059,334...95,062,132
Ensembl chr  X:95,059,337...95,062,132
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 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 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:74,943,440...75,053,559
Ensembl chr  X:74,945,082...74,968,405
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,895,202...71,980,019 JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:123,751,196...123,770,595
Ensembl chr  X:123,751,089...123,770,595
JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:123,502,074...123,516,301
Ensembl chr  X:123,502,096...123,515,720
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,324,365...71,342,225
Ensembl chr  X:71,324,365...71,342,225
JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:104,909,328...104,932,508
Ensembl chr  X:104,909,326...104,932,508
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
G Nrk Nik related kinase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:109,940,439...110,036,361
NCBI chr  X:110,065,199...110,089,124
Ensembl chr  X:109,940,350...110,033,085
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:17,171,510...17,215,108
Ensembl chr  X:17,540,458...17,540,952
Ensembl chr  X:17,540,458...17,540,952
JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:111,333,274...111,390,023
Ensembl chr  X:111,334,252...111,365,849
JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:105,772,718...105,793,324
Ensembl chr  X:105,772,722...105,793,306
JBrowse link
G Nxf3 nuclear RNA export factor 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:106,562,957...106,587,487
Ensembl chr  X:106,563,984...106,576,314
JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:106,049,075...106,066,334
Ensembl chr  X:106,049,075...106,066,227
JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:113,509,841...113,517,112
Ensembl chr  X:113,510,621...113,517,102
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:71,540,870...71,585,906
Ensembl chr  X:71,528,988...71,585,908
JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,569,683...156,589,907
Ensembl chr  X:156,569,683...156,589,907
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Otud6a OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,256,299...70,257,746
Ensembl chr  X:70,256,737...70,257,609
JBrowse link
G P2ry10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:78,158,729...78,210,413
Ensembl chr  X:78,196,300...78,210,403
JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,421,599...70,447,109
Ensembl chr  X:70,426,951...70,428,364
JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:73,894,603...73,895,742 JBrowse link
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:92,130,292...92,133,756
Ensembl chr  X:92,131,209...92,132,357
JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:114,784,452...115,042,683
Ensembl chr  X:114,929,029...115,036,669
JBrowse link
G Pasd1 PAS domain containing repressor 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr16:70,001,708...70,006,009
NCBI chr16:70,011,911...70,027,313
Ensembl chr16:70,002,883...70,006,016
Ensembl chr16:70,002,883...70,006,016
JBrowse link
G Pbdc1 polysaccharide biosynthesis domain containing 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:76,042,239...76,092,964
Ensembl chr  X:76,042,239...76,046,938
JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:92,596,355...93,341,412 JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,324,263...15,327,705 JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1, choline, beta ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:62,727,691...62,821,199
Ensembl chr  X:62,727,755...62,818,522
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:62,836,131...62,904,114
Ensembl chr  X:62,836,131...62,903,554
JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:70,458,601...70,461,635
Ensembl chr  X:70,458,603...70,461,635
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:23,092,143...23,145,923
Ensembl chr  X:23,092,159...23,144,324
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:77,263,399...77,279,373
Ensembl chr  X:77,263,359...77,279,367
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:123,205,869...123,213,880
Ensembl chr  X:123,205,869...123,213,882
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 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
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:21,063,487...21,168,750
Ensembl chr  X:21,063,562...21,168,750
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,462,621...15,467,890
Ensembl chr  X:15,462,016...15,467,875
JBrowse link
G Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:72,004,413...72,011,667
Ensembl chr  X:72,004,482...72,011,664
JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:31,852,322...31,968,152
Ensembl chr  X:31,852,323...31,968,152
JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:69,213,645...69,218,601
Ensembl chr  X:69,213,645...69,218,556
JBrowse link
G Plac1 placenta enriched 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,931,450...158,133,506
Ensembl chr  X:158,569,056...158,569,577
Ensembl chr  X:158,569,056...158,569,577
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,679,254...15,682,653
Ensembl chr  X:15,679,254...15,682,652
JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:119,030,311...119,124,268
Ensembl chr  X:119,030,419...119,124,250
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:157,150,071...157,154,558
Ensembl chr  X:157,150,655...157,154,555
JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:153,063,276...153,067,500
Ensembl chr  X:153,064,028...153,067,500
JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:153,037,448...153,039,372
Ensembl chr  X:153,037,448...153,039,372
JBrowse link
G Pof1b POF1B, actin binding protein ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:84,099,618...84,167,717
Ensembl chr  X:84,099,618...84,167,717
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,035,569...15,048,440
Ensembl chr  X:15,035,569...15,048,440
JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:82,143,789...82,145,066
Ensembl chr  X:82,143,789...82,145,066
JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:35,822,687...35,947,690
Ensembl chr  X:35,869,538...35,947,282
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,774,091...15,784,711 JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,618,324...15,620,992
Ensembl chr  X:15,618,991...15,620,841
JBrowse link
G Prdx4 peroxiredoxin 4 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:43,495,453...43,512,994
Ensembl chr  X:43,497,763...43,512,991
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:15,682,652...15,693,473
Ensembl chr  X:15,682,653...15,693,473
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:131,617,765...131,619,762
Ensembl chr  X:131,617,798...131,619,728
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr  X:45,698,240...45,806,238
Ensembl chr  X:45,698,237...45,806,198
JBrowse link
G Prrg3 proline rich and Gla domain 3 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868 NCBI chr16:69,954,910...69,966,733
Ensembl chr 1:69,285,579...69,287,538
Ensembl chr16:69,285,579...69,287,538
JBrowse link
G Psmd10 proteasome 26S subunit, non-ATPase 10 ISO ClinVar Annotator: match by term: MECP2 duplication syndrome ClinVar PMID:25741868