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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 chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
CTD
RGD
PMID:7558045 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 More... RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... RGD:1624353 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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 OMIM
ClinVar
PMID:20602916 NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
JBrowse link
Bartsocas-Papas Syndrome 1 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 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE OMIM
ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar
PMID:25691407 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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
OMIM
ClinVar
CTD
PMID:17236141 PMID:23995701 PMID:24239177 PMID:25741868 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carpenter syndrome
CTD
ClinVar
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome
CTD
ClinVar
PMID:16199547 PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 More... NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
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 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1 OMIM
ClinVar
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 More... NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 More... NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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 OMIM
ClinVar
PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 More... NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
Chromosome 11, Partial Trisomy 11q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
JBrowse link
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
JBrowse link
G Acad8 acyl-CoA dehydrogenase family, member 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
JBrowse link
G Ankk1 ankyrin repeat and kinase domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467
JBrowse link
G Bsx brain specific homeobox ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:41,254,105...41,257,861
Ensembl chr 8:41,254,105...41,257,861
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
JBrowse link
G Bud13 BUD13 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:46,575,115...46,590,958
JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
JBrowse link
G Cadm1 cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
JBrowse link
G Casp1 caspase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Casp12 caspase 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Casp4 caspase 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
JBrowse link
G Cldn25 claudin 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,391,975...49,392,664
Ensembl chr 8:49,391,975...49,392,664
JBrowse link
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838
JBrowse link
G Colca2 colorectal cancer associated 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
JBrowse link
G Crtam cytotoxic and regulatory T cell molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:41,340,117...41,377,343
Ensembl chr 8:41,340,837...41,377,343
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Ddx10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Drd2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
JBrowse link
G Elmod1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
JBrowse link
G Glb1l2 galactosidase, beta 1-like 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783
JBrowse link
G Glb1l3 galactosidase, beta 1-like 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904
JBrowse link
G Gramd1b GRAM domain containing 1B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,654,492...40,893,869
Ensembl chr 8:40,659,182...40,893,925
JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Htr3a 5-hydroxytryptamine receptor 3A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,242,018...49,254,475
Ensembl chr 8:49,242,020...49,254,389
JBrowse link
G Htr3b 5-hydroxytryptamine receptor 3B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,279,291...49,308,444
Ensembl chr 8:49,279,173...49,308,444
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
G Igsf9b immunoglobulin superfamily, member 9B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Jhy junctional cadherin complex regulator ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:41,276,501...41,333,383
Ensembl chr 8:41,276,491...41,333,514
JBrowse link
G Kbtbd3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
JBrowse link
G LOC100125362 hypothetical protein LOC100125362 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
JBrowse link
G LOC103689958 olfactory receptor 49-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079
JBrowse link
G LOC689959 hypothetical protein LOC689959 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
JBrowse link
G Mir100 microRNA 100 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
JBrowse link
G Mir125b1 microRNA 125b-1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
JBrowse link
G Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
JBrowse link
G Nfrkb nuclear factor related to kappa B binding protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
JBrowse link
G Nnmt nicotinamide N-methyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595
JBrowse link
G Nxpe1 neurexophilin and PC-esterase domain family, member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:48,749,250...48,773,762
Ensembl chr 8:48,751,014...48,785,353
JBrowse link
G Nxpe2 neurexophilin and PC-esterase domain family, member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:48,661,708...48,695,555
Ensembl chr 8:48,661,708...48,698,035
JBrowse link
G Nxpe4 neurexophilin and PC-esterase domain family member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:48,502,697...48,744,101
Ensembl chr 8:48,722,440...48,744,100
JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
JBrowse link
G Olr1194 olfactory receptor 1194 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
JBrowse link
G Olr1196 olfactory receptor 1196 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
JBrowse link
G Olr1201 olfactory receptor 1201 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
JBrowse link
G Olr1202 olfactory receptor 1202 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,720,158...37,721,087 JBrowse link
G Olr1235 olfactory receptor 1235 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
JBrowse link
G Olr1271 olfactory receptor 1271 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900
JBrowse link
G Olr1283 olfactory receptor 1283 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:39,357,910...39,358,962 JBrowse link
G Olr1294 olfactory receptor 1294 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924
JBrowse link
G Olr1334 olfactory receptor 1334 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371
JBrowse link
G Olr1335 olfactory receptor 1335 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692
JBrowse link
G Olr1337 olfactory receptor 1337 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068
JBrowse link
G Olr1339 olfactory receptor 1339 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809
JBrowse link
G Olr1340 olfactory receptor 1340 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932
JBrowse link
G Olr1341 olfactory receptor 1341 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586
JBrowse link
G Opcml opioid binding protein/cell adhesion molecule-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620
JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:34,048,617...34,050,848
Ensembl chr 8:34,048,617...34,050,848
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
JBrowse link
G Plet1 placenta expressed transcript 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,842,210...50,854,015
Ensembl chr 8:50,841,854...50,853,659
JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
JBrowse link
G Pou2af2 POU domain, class 2, associating factor 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,870,838...50,877,878
Ensembl chr 8:50,870,841...50,877,869
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
JBrowse link
G Rab39a RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
JBrowse link
G Rbm7 RNA binding motif protein 7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:48,831,894...48,838,399
Ensembl chr 8:48,831,894...48,838,411
JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
JBrowse link
G Rexo2 RNA exonuclease 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:48,811,900...48,823,622
Ensembl chr 8:48,811,900...48,823,622
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G RGD1563941 similar to hypothetical protein FLJ20010 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:48,838,556...48,838,970
Ensembl chr 8:48,838,100...48,842,270
JBrowse link
G RGD1564937 similar to RIKEN cDNA 1110032A03 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
JBrowse link
G Slc35f2 solute carrier family 35, member F2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,415,666...33,465,365
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,908,161...50,913,205
Ensembl chr 8:50,909,052...50,913,217
JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,406,563...25,415,444
Ensembl chr 8:25,406,500...25,415,445
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Tmem45b transmembrane protein 45b ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
JBrowse link
G Tmprss5 transmembrane serine protease 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,437,321...49,461,395
Ensembl chr 8:49,441,984...49,460,071
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ubash3b ubiquitin associated and SH3 domain containing, B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:41,385,419...41,532,248
Ensembl chr 8:41,388,341...41,532,201
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
JBrowse link
G Usp28 ubiquitin specific peptidase 28 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,325,766...49,386,229
Ensembl chr 8:49,325,867...49,386,229
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
JBrowse link
G Vps26b VPS26 retromer complex component B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
JBrowse link
G Zfp202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118
JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
JBrowse link
G Zw10 zw10 kinetochore protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:49,396,541...49,424,743
Ensembl chr 8:49,396,545...49,421,805
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 duplication syndrome ClinVar PMID:21681106 NCBI chr10:61,262,516...61,461,331
Ensembl chr10:61,262,516...61,461,505
JBrowse link
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
JBrowse link
G Crk CRK proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406
JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome ClinVar PMID:21681106 NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
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 chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265
JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,308,363...9,310,568
Ensembl chr17:9,308,525...9,310,553
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 chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO RGD PMID:28220884 RGD:151347177 NCBI chr  X:30,547,424...30,571,613
Ensembl chr  X:30,547,536...30,570,125
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:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:20,871,278...21,001,378
Ensembl chr  X:20,873,795...21,001,262
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 Annotator: match by term: X-LINKED ACROGIGANTISM ClinVar PMID:25712922 PMID:26935837 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-LINKED ACROGIGANTISM ClinVar PMID:26935837 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome | ClinVar Annotator: match by term: X-LINKED ACROGIGANTISM ClinVar PMID:25712922 PMID:26935837 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome | ClinVar Annotator: match by term: X-LINKED ACROGIGANTISM ClinVar PMID:25712922 PMID:26935837 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-LINKED ACROGIGANTISM ClinVar PMID:26935837 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome | ClinVar Annotator: match by term: X-LINKED ACROGIGANTISM ClinVar PMID:25712922 PMID:26935837 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome | ClinVar Annotator: match by term: X-LINKED ACROGIGANTISM ClinVar PMID:25712922 PMID:26935837 NCBI chr  X:134,979,657...134,996,007 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
OMIM
ClinVar
CTD
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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: Heart defect - tongue hamartoma - polysyndactyly syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Complete trisomy 21 syndrome ClinVar PMID:30311386 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO mRNA:decreased expression:amniotic fluid cell: RGD PMID:15716609 RGD:14398459 NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO protein:increased ubiquitination:frontal cortex (human) RGD PMID:25391381 RGD:11252150 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16289943 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Complete trisomy 21 syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
G Ctss cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Dbn1 drebrin 1 ISO protein:decreased expression:frontal cortex, temporal cortex: RGD PMID:12009525 RGD:10398822 NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A treatment ISS
ISO
OMIM:190685
protein:increased expression:brain:
MouseDO
RGD
PMID:23220201 PMID:18696092 PMID:28647555 RGD:14974030, RGD:14974029, RGD:14973377 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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 chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
JBrowse link
G Fabp3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO protein:increased expression:cerebellum (human) RGD PMID:9328467 RGD:5143983 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
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:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO protein:decreased expression:brain (human) RGD PMID:11771757 RGD:13208830 NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12515899 RGD:10402838 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:blood: RGD PMID:9469274 RGD:12743600 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO protein:increased expression:hippocampus RGD PMID:22178330 RGD:6483052 NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,245,620...16,245,707 JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir802 microRNA 802 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:32,626,525...32,626,620
Ensembl chr11:32,626,525...32,626,620
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
JBrowse link
G Mirlet7c1 microRNA let-7c-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:24519975 RGD:13204810 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
CTD
RGD
PMID:16353284 PMID:16489479 PMID:16845273 PMID:17431899 PMID:16489479 RGD:11565177 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G Myl7 myosin light chain 7 ISO RGD PMID:12083776 RGD:1580934 NCBI chr14:80,780,684...80,783,259
Ensembl chr14:80,779,776...80,783,244
JBrowse link
G Napb NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chr 3:136,132,248...136,179,225
Ensembl chr 3:136,133,428...136,179,345
JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16289943 NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
JBrowse link
G Pcnt pericentrin ISO RGD PMID:23979692 PMID:22552340 RGD:11537399, RGD:11537404 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
JBrowse link
G Prdx6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G Reln reelin ISO protein: increased expression: brain RGD PMID:20025970 RGD:13207521 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Complete trisomy 21 syndrome ClinVar NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831
JBrowse link
G Rplp0 ribosomal protein lateral stalk subunit P0 IEP protein:increased expression:brain RGD PMID:25261685 RGD:11039463 NCBI chr12:41,054,363...41,057,632
Ensembl chr12:41,054,179...41,057,632
JBrowse link
G S100b S100 calcium binding protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12888777 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16845273 PMID:17431899 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Snap25 synaptosome associated protein 25 ISO RGD PMID:12499044 RGD:1579958 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
G Sod1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11181815 PMID:15464862 RGD:8655616 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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 5:144,060,981...144,090,798
Ensembl chr 5:144,061,463...144,089,229
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:24519975 RGD:13204810 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tuba1a tubulin, alpha 1A ISO protein:decreased expression:brain: RGD PMID:21262400 RGD:12859084 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
JBrowse link
G Vip vasoactive intestinal peptide ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16289943 PMID:19037032 RGD:5685613 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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 OMIM
ClinVar
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 More... NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
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 OMIM
ClinVar
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
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
ClinVar Annotator: match by term: Cryptophthalmos with other malformations
CTD
ClinVar
PMID:17163535 PMID:18671281 PMID:25741868 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:219000 MouseDO NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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
OMIM
RGD
PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 More... RGD:1598960 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:25741868 PMID:26275891 PMID:28492532 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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
RGD
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 More... RGD:13464328 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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 chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 OMIM
ClinVar
PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 More... NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400
JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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 | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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: Polyposis syndrome, hereditary mixed, 1 ClinVar PMID:22561515 NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
JBrowse link
Klinefelter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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 OMIM
ClinVar
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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 OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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 OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
Mesoaxial Synostotic Syndactyly 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: Mesoaxial synostotic syndactyly with phalangeal reduction OMIM
ClinVar
PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
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
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD
ClinVar
PMID:24056718 PMID:27993330 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:90,974,095...90,996,275
Ensembl chr10:90,974,095...90,996,275
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome ClinVar
RGD
PMID:12172547 PMID:27993330 PMID:28492532 PMID:14636651 RGD:10450612 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:15384080 PMID:25741868 PMID:27993330 PMID:28492532 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD
ClinVar
PMID:24056718 PMID:27993330 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
JBrowse link
G Stag2 stromal antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)
ClinVar
CTD
OMIM
RGD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 OMIM
ClinVar
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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 term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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 with syndactyly, cleft palate and developmental delay OMIM
ClinVar
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32238909 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome OMIM
ClinVar
PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome OMIM
ClinVar
PMID:7558045 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar
PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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 chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,545,464...46,608,768
Ensembl chr10:46,551,532...46,608,769
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,255,501...45,269,971
Ensembl chr10:45,255,507...45,269,969
JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
JBrowse link
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2))
CTD
ClinVar
PMID:15805188 PMID:15852235 PMID:16199547 PMID:18234728 PMID:19457309 More... NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,221,210...45,247,627
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621
JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,453,929...44,569,442
Ensembl chr10:44,453,929...44,569,118
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,577,740...44,581,686
Ensembl chr10:44,577,675...44,581,077
JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Potocki-Lupski syndrome
CTD
ClinVar
PMID:17517686 PMID:28837307 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,468,698...45,497,820
Ensembl chr10:45,468,700...45,497,820
JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
JBrowse link
G Slc47a2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,990,806...46,033,937
Ensembl chr10:45,991,095...46,033,904
JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,352,064...46,400,795
Ensembl chr10:46,352,061...46,399,811
JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,638,947...46,912,989
Ensembl chr10:46,638,809...46,912,802
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
JBrowse link
G Ulk2 unc-51 like autophagy activating kinase 2 ISO ClinVar Annotator: match by term: Potocki-Lupski syndrome ClinVar PMID:28837307 NCBI chr10:46,451,578...46,530,462
Ensembl chr10:46,454,030...46,530,407
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: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome OMIM
ClinVar
PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:16251895 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome
CTD
ClinVar
OMIM
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11179006 RGD:68858 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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 OMIM
ClinVar
PMID:11179006 PMID:11181578 PMID:19072561 PMID:28492532 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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 OMIM
ClinVar
PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:25741868 More... NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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 ClinVar PMID:28492532 NCBI chr 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163
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 Ankfn1 ankyrin-repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes ClinVar NCBI chr10:74,214,143...74,602,825
Ensembl chr10:74,218,915...74,663,295
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes OMIM
ClinVar
PMID:9851982 PMID:10069712 PMID:11160400 PMID:11857750 PMID:12089654 More... NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Fbn2 fibrillin 2 ISO RGD PMID:11285249 RGD:1300320 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:insertion:cds: RGD PMID:18984342 RGD:12738203 NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:missense mutation:exon:p.H601R (c.1802A>G) (human)
ClinVar Annotator: match by term: polysyndactyly
ClinVar
RGD
PMID:25267529 RGD:12738225 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndactyly
CTD
ClinVar
PMID:25741868 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Irf6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 RGD PMID:12219090 RGD:1600214 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
JBrowse link
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Syndactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
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 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Syndactyly type 1 ClinVar NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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 OMIM
ClinVar
PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 term: Syndactyly type 4 OMIM
ClinVar
PMID:1849351 PMID:18417549 PMID:19847792 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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 5 ClinVar NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly with associated metacarpal and metatarsal fusion | ClinVar Annotator: match by term: Syndactyly, type V
DNA:missense mutation:exon:p.Q317R (c.950A>G)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 More... RGD:12738470 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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: Syndactyly type 8 OMIM
ClinVar
PMID:23709756 PMID:24878828 NCBI chr  X:70,816,658...70,827,270
Ensembl chr  X:70,817,433...70,878,717
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 term: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OMIM
CTD
ClinVar
PMID:8818947 PMID:18297069 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
syndromic X-linked intellectual disability Lubs type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858
JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acot9 acyl-CoA thioesterase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:40,073,197...40,123,573
Ensembl chr  X:40,064,810...40,123,559
JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427
JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457
JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,885,039...107,906,264
Ensembl chr  X:107,885,064...107,893,002
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440
JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487
JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,982,399...109,041,265
Ensembl chr  X:108,984,022...109,041,272
JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439
JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Apoo apolipoprotein O ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,157,971...59,262,940
Ensembl chr  X:59,158,049...59,262,940
JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:77,377,685...77,443,670
Ensembl chr  X:77,377,781...77,443,900
JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073
JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:128,780,148...128,787,169
Ensembl chr  X:128,751,900...128,787,161
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513
JBrowse link
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702
JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299
JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552
JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098
JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912
JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,709,592...98,747,326
Ensembl chr  X:98,709,841...98,714,674
JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,929,032...97,932,032
Ensembl chr  X:97,929,041...97,931,977
JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,014,485...30,037,808
Ensembl chr  X:29,992,416...30,037,807
JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619
JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268
JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,668,205...65,674,450
Ensembl chr  X:65,668,205...65,674,450
JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,482,240...65,490,500
Ensembl chr  X:65,481,929...65,527,625
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,365,748...33,389,773 JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503
JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,219,015...99,220,411
Ensembl chr  X:99,219,014...99,220,958
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,273,238...99,274,799
Ensembl chr  X:99,273,161...99,274,800
JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,132,076...99,133,413
Ensembl chr  X:99,131,942...99,133,531
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Bhlhb9 basic helix-loop-helix family member B9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,820,289...98,854,949
Ensembl chr  X:98,817,593...98,854,545
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,227,251...30,290,015
Ensembl chr  X:30,227,251...30,289,993
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,380,774...107,405,489
Ensembl chr  X:107,380,774...107,405,489
JBrowse link
G Car5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,474,697...30,534,797
Ensembl chr  X:30,474,784...30,533,837
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Cdr1 cerebellar degeneration related protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:139,590,816...139,594,141 JBrowse link
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,326,874...68,335,461
Ensembl chr  X:68,326,874...68,335,461
JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657
JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,769,944...150,775,052
Ensembl chr  X:150,769,953...150,774,919
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573
JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,362,001...68,406,155
Ensembl chr  X:68,361,969...68,437,887
JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943
JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921
JBrowse link
G Chst7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:2,396,260...2,432,828
Ensembl chr  X:2,393,874...2,432,840
JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,350,376...67,355,072
Ensembl chr  X:67,350,373...67,355,162
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838
JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,361,967...30,395,264
Ensembl chr  X:30,361,967...30,395,349
JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,696,999...149,715,051
Ensembl chr  X:149,696,997...149,715,051
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,908,135...37,148,337
Ensembl chr  X:36,907,850...37,150,555
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:81,756,909...81,794,661 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476
JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,651,472...115,655,191
Ensembl chr  X:115,651,482...115,655,188
JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Ctps2 CTP synthase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,645,873...31,786,733
Ensembl chr  X:31,645,873...31,786,733
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:76,108,111...76,197,431
Ensembl chr  X:76,108,136...76,197,422
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,661,415...71,690,158
Ensembl chr  X:71,663,821...71,690,121
JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592
JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905
JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:123,293,761...123,296,550
Ensembl chr  X:123,294,744...123,296,156
JBrowse link
G Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:54,488,494...54,491,514
Ensembl chr  X:54,488,781...54,491,141
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,479,532...9,493,455
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,614,430...65,637,962
Ensembl chr  X:65,614,430...65,637,962
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987
JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869
JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:4,205,486...4,274,939
Ensembl chr  X:4,205,490...4,271,574
JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322