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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



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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
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | 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:1641873 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 Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly 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 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 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 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:22233338 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:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 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 Actmap actin maturation protease ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,265,656...81,296,278
Ensembl chr 1:81,265,088...81,296,265
JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G Ceacam4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
JBrowse link
G Ceacam9 CEA cell adhesion molecule 9 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:77,405,619...77,410,154
Ensembl chr 1:77,405,619...77,410,155
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
JBrowse link
G Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
JBrowse link
G Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,416,108...82,429,897
Ensembl chr 1:82,416,130...82,429,896
JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
JBrowse link
G Dmrtc2 DMRT-like family C2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,479,139...83,497,011
Ensembl chr 1:83,479,147...83,487,169
JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,538,217...83,542,262 JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Erich4 glutamate-rich 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,374,979...83,413,083
Ensembl chr 1:83,372,127...83,413,083
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,955,783...82,974,084
Ensembl chr 1:82,955,207...82,974,084
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 More... NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
JBrowse link
G Numbl NUMB-like, endocytic adaptor protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
JBrowse link
G RGD1307554 similar to CG16812-PA ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793
JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
JBrowse link
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 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 C8h11orf52 similar to human chromosome 11 open reading frame 52 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 C8h11orf65 similar to human chromosome 11 open reading frame 65 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 C8h11orf71 similar to human chromosome 11 open reading frame 71 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 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 Cfap68 cilia and flagella associated protein 68 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 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 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 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 Nherf4 NHERF family PDZ scaffold protein 4 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 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 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 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 Or10g9 olfactory receptor family 10 subfamily G member 9 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 Or10g9b olfactory receptor family 10 subfamily G member 9B 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 Or10s1 olfactory receptor family 10 subfamily S member 1 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 Or4d5 olfactory receptor family 4 subfamily D member 5 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 Or6x1 olfactory receptor family 6 subfamily X member 1 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 Or8a1b olfactory receptor family 8 subfamily A member 1B 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 Or8b12 olfactory receptor family 8 subfamily B member 12 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 Or8b3 olfactory receptor family 8 subfamily B member 3 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 Or8b4 olfactory receptor family 8 subfamily B member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:37,720,158...37,721,087 JBrowse link
G Or8b8 olfactory receptor family 8 subfamily B member 8 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 Or8d4 olfactory receptor family 8 subfamily D member 4 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 Or8g17d olfactory receptor family 8 subfamily G member 17D ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 8:39,180,564...39,181,499
Ensembl chr 8:39,180,079...39,184,720
JBrowse link
G Or8g30 olfactory receptor family 8 subfamily G member 30 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 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 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 class 2 homeobox 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 Pou2af3 POU class 2 homeobox associating factor 3 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 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 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 16p11.2 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
JBrowse link
G C1h16orf54 similar to human chromosome 16 open reading frame 54 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,579,391...181,583,017
Ensembl chr 1:181,579,387...181,582,860
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,622,708...181,624,996 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079
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 1q21.1 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
JBrowse link
G LOC120098377 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
JBrowse link
chromosome 22q11.2 microduplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 apoptosis inducing factor, mitochondria associated 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
JBrowse link
G LOC120095775 small nucleolar RNA SNORA77 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
JBrowse link
G LOC498122 similar to CG15908-PA ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466
JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
JBrowse link
G Wfdc21 WAP four-disulfide core domain 21 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:31690835 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
JBrowse link
chromosome 22q13 duplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acr acrosin ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,636,581...120,644,474
Ensembl chr 7:120,638,321...120,644,474
JBrowse link
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543
JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494
JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737
JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664
JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
G Mov10l1 Mov10 like RISC complex RNA helicase 1 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587
JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330
JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015
JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075
JBrowse link
G Tubgcp6 tubulin, gamma complex associated protein 6 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
JBrowse link
Chromosome 5, Trisomy 5q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575
JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137
JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,947,216...9,989,474
Ensembl chr17:9,947,220...9,989,485
JBrowse link
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 Gprin1 G protein-regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,863,641...9,876,832
Ensembl chr17:9,863,571...9,876,915
JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863
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
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104
JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193
JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834
JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799
JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526
JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,493,789...9,523,681
Ensembl chr17:9,493,803...9,523,635
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 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 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: Chromosome Xq26.3 duplication syndrome 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 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 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: Chromosome Xq26.3 duplication syndrome 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 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 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:28492532 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:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:25741868 More... 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 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Down syndrome ClinVar PMID:25741868 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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:12766769 PMID:17163535 PMID:18671281 PMID:25741868 PMID:28492532 More... 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
ClinVar Annotator: match by term: Cryptophthalmos with other malformations
CTD
ClinVar
PMID:17163535 PMID:25741868 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:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 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:9536098 PMID:17576681 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:24700879 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:24426771 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 Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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 PMID:28492532 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
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr  X:59,760,871...59,766,310
Ensembl chr  X:59,763,210...59,765,903
JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
JBrowse link
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
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
JBrowse link
G Inhba inhibin subunit beta A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
JBrowse link
G Rala RAS like proto-oncogene A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:47,092,139...47,145,192
Ensembl chr17:47,092,207...47,144,063
JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
JBrowse link
G Sugct succinylCoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:25741868 NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
JBrowse link
hereditary mixed polyposis syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 ClinVar NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 ClinVar NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 ClinVar PMID:28492532 PMID:32051609 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
JBrowse link
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 Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
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 Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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 PMID:28492532 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10690855 More... NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
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 Pou6f2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr17:46,471,819...46,922,406
Ensembl chr17:46,472,181...46,921,039
JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:20887964 PMID:25741868 PMID:28492532 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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 ISS
ISO
OMIM:149730
ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
MouseDO
ClinVar
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
CTD
ClinVar
PMID:1641873 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: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8723106 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
LADD Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO OMIM NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
LADD Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO OMIM NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
LADD Syndrome 3 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: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar
PMID:15654336 PMID:16501574 PMID:16630169 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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:16783379 PMID:22706301 PMID:23704091 PMID:24453067 More... 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:16358218 PMID:24803665 PMID:25741868 PMID:27993330 More... 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 STAG2 cohesin complex component 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:14729836 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:32117442 More... 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:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 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
DNA:mutations:CDS:multiple (human)
DNA:SNPs, missense mutation:splice junction, CDS:multiple (human)
OMIM
ClinVar
RGD
PMID:1641873 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333