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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:Trisomy
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Accession:DOID:9003960 term browser browse the term
Definition:The possession of a third chromosome of any one type in an otherwise diploid cell.
Synonyms:exact_synonym: Chromosomal Triplication;   Partial Trisomies;   Partial Trisomy;   chromosomal triplications;   trisomies
 primary_id: MESH:D014314
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Trisomy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21526190 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
Chromosome 5, Trisomy 5q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,798,136...9,815,820
Ensembl chr17:9,797,907...9,816,139
JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,830,326...9,834,052
Ensembl chr17:9,830,332...9,839,452
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,834,245...9,837,285
Ensembl chr17:9,834,242...9,837,303
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,837,259...9,839,464
Ensembl chr17:9,830,332...9,839,452
JBrowse link
Chromosome 8, Trisomy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) RGD PMID:23643325 RGD:10769356 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
Down syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr1a actin related protein 1A ISO protein:decreased expression:cortex RGD PMID:11829462 RGD:13831340 NCBI chr 1:266,123,864...266,142,621
Ensembl chr 1:266,123,870...266,142,538
JBrowse link
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:12054546 RGD:11570562 NCBI chr 4:145,330,457...145,340,985
Ensembl chr 4:145,330,457...145,340,984
JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO mRNA:decreased expression:amniotic fluid cell: RGD PMID:15716609 RGD:14398459 NCBI chr10:16,677,077...16,689,321
Ensembl chr10:16,677,077...16,689,321
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO protein:increased ubiquitination:frontal cortex (human) RGD PMID:25391381 RGD:11252150 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16289943 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Ctss cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Dbn1 drebrin 1 ISO protein:decreased expression:frontal cortex, temporal cortex: RGD PMID:12009525 RGD:10398822 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A treatment ISS
ISO
OMIM:190685
protein:increased expression:brain:
MouseDO PMID:23220201, PMID:18696092, PMID:28647555 RGD:14974030, RGD:14974029, RGD:14973377 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO mRNA:increased expression:brain (human) RGD PMID:10328528 RGD:13207452 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Fabp3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO protein:increased expression:cerebellum (human) RGD PMID:9328467 RGD:5143983 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Complete trisomy 21 syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO protein:decreased expression:brain (human) RGD PMID:11771757 RGD:13208830 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
JBrowse link
G Gstm2 glutathione S-transferase mu 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr 2:210,778,041...210,782,807
Ensembl chr 2:210,720,704...210,782,856
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:12515899 RGD:10402838 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:blood: RGD PMID:9469274 RGD:12743600 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO protein:increased expression:hippocampus RGD PMID:22178330 RGD:6483052 NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,097,346...16,097,433 JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir802 microRNA 802 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:33,570,256...33,570,351
Ensembl chr11:33,570,256...33,570,351
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
JBrowse link
G Mirlet7c1 microRNA let-7c-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403643 NCBI chr11:16,052,873...16,052,966
Ensembl chr11:16,052,868...16,052,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:24519975 RGD:13204810 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
ISO DNA:SNP:cds:1958 G>A (rs2236225)(human)
protein:increased expression:brain:
DNA:SNP:cds:1958G>A(human)
RGD PMID:25671679, PMID:15068241, PMID:22339736 RGD:12910959, RGD:12914150, RGD:12910960 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
CTD PMID:16353284 PMID:16489479 PMID:16845273 PMID:17431899, PMID:16489479 RGD:11565177 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Down syndrome, susceptibility to ClinVar PMID:9501215 PMID:10444342 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12923861 PMID:15797993 PMID:15979034 PMID:16013960 PMID:18368069 PMID:22992668 PMID:25227144 PMID:25741868 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Myl7 myosin light chain 7 ISO RGD PMID:12083776 RGD:1580934 NCBI chr14:86,144,770...86,147,075
Ensembl chr14:86,143,862...86,147,553
JBrowse link
G Napb NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chr 3:143,017,571...143,063,904
Ensembl chr 3:143,020,454...143,063,983
JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16289943 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Pcnt pericentrin ISO RGD PMID:23979692, PMID:22552340 RGD:11537399, RGD:11537404 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr19:26,084,816...26,090,095
Ensembl chr19:26,084,903...26,090,094
JBrowse link
G Prdx6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11771762 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Reln reelin ISO protein: increased expression: brain RGD PMID:20025970 RGD:13207521 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Complete trisomy 21 syndrome ClinVar NCBI chr14:1,959,148...1,998,077
Ensembl chr14:1,959,610...1,998,102
JBrowse link
G Rplp0 ribosomal protein lateral stalk subunit P0 IEP protein:increased expression:brain RGD PMID:25261685 RGD:11039463 NCBI chr12:46,791,528...46,794,797
Ensembl chr12:46,791,528...46,794,797
JBrowse link
G S100b S100 calcium binding protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12888777 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16845273 PMID:17431899 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Snap25 synaptosome associated protein 25 ISO RGD PMID:12499044 RGD:1579958 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
G Sod1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: marker/mechanism
CTD PMID:11181815, PMID:15464862 RGD:8655616 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Srsf4 serine and arginine rich splicing factor 4 ISO protein:increased expression:amniotic fluid (human) RGD PMID:16847874 RGD:11039402 NCBI chr 5:150,032,999...150,060,769
Ensembl chr 5:150,032,999...150,060,765
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:24519975 RGD:13204810 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tuba1a tubulin, alpha 1A ISO protein:decreased expression:brain: RGD PMID:21262400 RGD:12859084 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Vip vasoactive intestinal peptide ISO mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism
CTD PMID:16289943, PMID:19037032 RGD:5685613 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
myeloid leukemia associated with Down Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Myeloid Leukemia Associated with Down Syndrome ClinVar PMID:24033266 PMID:24448499 PMID:24618431 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26845104 PMID:27930734 PMID:28492532 PMID:31422818 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
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 chr19:37,600,151...37,649,674
Ensembl chr19:37,600,148...37,649,673
JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:94,231,585...94,254,046
Ensembl chr10:94,231,585...94,254,046
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
ClinVar PMID:12172547 PMID:27993330 PMID:28492532, PMID:14636651 RGD:10450612 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr10:105,796,108...105,815,696
Ensembl chr10:105,796,680...105,815,696
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 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:23414587 PMID:23431193 PMID:24056718 PMID:25157968 PMID:26619011 PMID:27993330 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:15384080 PMID:25741868 PMID:27993330 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
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 chr10:105,792,779...105,795,986
Ensembl chr10:105,792,779...105,795,958
JBrowse link
G Stag2 stromal antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
Potocki-Lupski syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:48,150,902...48,210,074
Ensembl chr10:48,150,902...48,210,074
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,525,486...47,546,535
Ensembl chr10:47,525,493...47,546,345
JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,906,314...46,927,759
Ensembl chr10:46,906,115...46,930,579
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,768,539...46,783,889
Ensembl chr10:46,768,539...46,783,889
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,182,680...46,206,083
Ensembl chr10:46,182,687...46,206,135
JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,712,021...46,762,276
Ensembl chr10:46,722,109...46,762,250
JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,818,412...46,831,308
Ensembl chr10:46,818,525...46,830,739
JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,795,496...47,857,373
Ensembl chr10:47,795,524...47,857,326
JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,960,735...47,984,083
Ensembl chr10:47,961,056...47,983,724
JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:49,259,050...49,296,714
Ensembl chr10:49,259,194...49,296,663
JBrowse link
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Potocki-Lupski syndrome
ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2
CTD
ClinVar
PMID:15805188 PMID:15852235 PMID:18234728 PMID:19457309 PMID:19802896 PMID:20618353 PMID:21937013 PMID:23050938 PMID:24393238 PMID:24728327 PMID:25594584 PMID:25741868 PMID:28492532 PMID:28558743 PMID:28837307 NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,955,460...46,969,468
Ensembl chr10:46,955,487...46,969,406
JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,784,124...46,810,517
Ensembl chr10:46,783,979...46,810,524
JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,930,633...47,949,774
Ensembl chr10:47,930,633...47,949,773
JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,940,873...46,955,524
Ensembl chr10:46,940,965...46,954,674
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,768,592...47,775,130
Ensembl chr10:47,766,680...47,775,055
Ensembl chr10:47,766,680...47,775,055
JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,314,639...46,329,374
Ensembl chr10:46,314,375...46,329,373
JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,765,463...47,768,484
Ensembl chr10:47,765,432...47,768,483
JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,969,531...46,975,572
Ensembl chr10:46,972,038...46,974,806
JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,018,397...46,133,580
Ensembl chr10:46,018,659...46,133,571
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,216,494...46,244,478
Ensembl chr10:46,216,884...46,243,077
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,339,821...46,404,640
Ensembl chr10:46,339,821...46,404,642
JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,142,313...46,145,774
Ensembl chr10:46,142,801...46,145,548
JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:48,008,799...48,044,435
Ensembl chr10:48,008,802...48,044,344
JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2
CTD
ClinVar
PMID:17517686 PMID:28837307 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,330,361...46,339,326
Ensembl chr10:46,330,368...46,332,172
JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,719,034...47,726,050
Ensembl chr10:47,719,014...47,725,172
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,631,425...47,685,379
Ensembl chr10:47,632,192...47,666,921
JBrowse link
G Slc47a2 solute carrier family 47 member 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,587,909...47,631,373
Ensembl chr10:47,588,497...47,630,799
JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,949,775...47,997,802
Ensembl chr10:47,949,665...47,997,796
JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,019,326...47,026,465
Ensembl chr10:47,018,974...47,026,465
JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:48,240,291...48,542,171
Ensembl chr10:48,240,127...48,542,292
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,599,392...46,720,921
Ensembl chr10:46,602,231...46,720,910
JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:46,980,646...47,018,728
Ensembl chr10:46,981,958...47,018,537
JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:49,299,125...49,312,814
Ensembl chr10:49,299,125...49,310,400
JBrowse link
G Ulk2 unc-51 like autophagy activating kinase 2 ISO ClinVar Annotator: match by term: Chromosome 17, trisomy 17p11 2 ClinVar PMID:28837307 NCBI chr10:48,050,079...48,129,377
Ensembl chr10:48,050,803...48,129,377
JBrowse link
transient myeloproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Transient myeloproliferative syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24056718 PMID:27993330, PMID:14636651 RGD:10450612 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome ClinVar PMID:10068652 PMID:12200707 PMID:15156185 PMID:22012064 PMID:23817177 PMID:28492532 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      chromosomal duplication syndrome 748
        Trisomy 110
          6q+ Syndrome, Partial 0
          Chromosome 1, Duplication 1p21 p32 0
          Chromosome 1, Trisomy 1q32 qter 0
          Chromosome 1, Trisomy 1q42 qter 0
          Chromosome 1, Uniparental Disomy 1q12 q21 0
          Chromosome 1, q42 11 q42 12 Duplication 0
          Chromosome 10, Trisomy 10p 0
          Chromosome 10, Trisomy 10pter p13 0
          Chromosome 10, Uniparental Disomy of 0
          Chromosome 10q Duplication Syndrome 0
          Chromosome 11, Partial Trisomy 11q 0
          Chromosome 11q Trisomy 0
          Chromosome 12, 12p Trisomy 0
          Chromosome 12, Trisomy 12q 0
          Chromosome 13p Duplication 0
          Chromosome 13q Trisomy 0
          Chromosome 14 Trisomy 0
          Chromosome 14, Trisomy Mosaic 0
          Chromosome 14q, Proximal Duplication 0
          Chromosome 14q, Terminal Duplication 0
          Chromosome 15, Trisomy Mosaicism 0
          Chromosome 15q, Trisomy 0
          Chromosome 16, Trisomy 0
          Chromosome 16, Trisomy 16q 0
          Chromosome 17 Trisomy 0
          Chromosome 17, Trisomy 17p 0
          Chromosome 17, Trisomy 17q22 0
          Chromosome 18, Trisomy 18p 0
          Chromosome 18, Trisomy 18q 0
          Chromosome 19, Trisomy 19q 0
          Chromosome 1q, Duplication 1q12 q21 0
          Chromosome 2, Trisomy 2p 0
          Chromosome 2, Trisomy 2p13 p21 0
          Chromosome 2, Trisomy 2pter p24 0
          Chromosome 2, Trisomy 2q 0
          Chromosome 2, Trisomy 2q37 0
          Chromosome 20, Trisomy 0
          Chromosome 21, Uniparental Disomy of 0
          Chromosome 22, Trisomy 0
          Chromosome 22, Trisomy q11 q13 0
          Chromosome 3 Duplication Syndrome 0
          Chromosome 3, Trisomy 3p 0
          Chromosome 3, Trisomy 3p25 0
          Chromosome 3, Trisomy 3q 0
          Chromosome 3, Trisomy 3q13 2 q25 0
          Chromosome 4, Trisomy 4q 0
          Chromosome 4, Trisomy 4q21 0
          Chromosome 4, Trisomy 4q25 qter 0
          Chromosome 5, Monosomy 5q35 0
          Chromosome 5, Trisomy 5pter p13 3 0
          Chromosome 5, Trisomy 5q 6
          Chromosome 5, Uniparental Disomy 0
          Chromosome 6, Trisomy 6p 0
          Chromosome 6, Trisomy 6q 0
          Chromosome 7, Trisomy 7p 0
          Chromosome 7, Trisomy 7p13 p12 2 0
          Chromosome 7, Trisomy 7q 0
          Chromosome 7, Trisomy Mosaic 0
          Chromosome 8, Mosaic Trisomy 0
          Chromosome 8, Partial Trisomy 0
          Chromosome 8, Trisomy 1
          Chromosome 8, Trisomy 8p 0
          Chromosome 8, Trisomy 8q 0
          Chromosome 9, Partial Trisomy 9p 0
          Chromosome 9, Trisomy 0
          Chromosome 9, Trisomy 9p 0
          Chromosome 9, Trisomy 9q 0
          Chromosome 9, Trisomy 9q32 0
          Chromosome 9, Trisomy Mosaic 0
          Chromosome Xq Duplication Syndrome 0
          Distal Trisomy 10q Syndrome 0
          Down syndrome + 60
          Duplication 4p Syndrome 0
          Edwards syndrome 0
          Partial Duplication 15q Syndrome 0
          Partial Trisomy 3q Syndrome 0
          Patau syndrome 0
          Potocki-Lupski syndrome 42
          Pseudotrisomy 13 Syndrome 0
          Triple X Syndrome 0
          Trisomy 18-Like Syndrome 0
          Trisomy 20p 0
          Trisomy 22 Mosaicism Syndrome 0
          Warburton Anyane Yeboa Syndrome 0
          X Chromosome, Duplication Xq13 1 q21 1 0
          X Chromosome, Trisomy Xp3 0
          X Chromosome, Trisomy Xpter Xq13 0
          X Chromosome, Trisomy Xq25 0
          partial trisomy distal 4q 0
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          chromosomal disease 1752
            chromosomal duplication syndrome 748
              Trisomy 110
                6q+ Syndrome, Partial 0
                Chromosome 1, Duplication 1p21 p32 0
                Chromosome 1, Trisomy 1q32 qter 0
                Chromosome 1, Trisomy 1q42 qter 0
                Chromosome 1, Uniparental Disomy 1q12 q21 0
                Chromosome 1, q42 11 q42 12 Duplication 0
                Chromosome 10, Trisomy 10p 0
                Chromosome 10, Trisomy 10pter p13 0
                Chromosome 10, Uniparental Disomy of 0
                Chromosome 10q Duplication Syndrome 0
                Chromosome 11, Partial Trisomy 11q 0
                Chromosome 11q Trisomy 0
                Chromosome 12, 12p Trisomy 0
                Chromosome 12, Trisomy 12q 0
                Chromosome 13p Duplication 0
                Chromosome 13q Trisomy 0
                Chromosome 14 Trisomy 0
                Chromosome 14, Trisomy Mosaic 0
                Chromosome 14q, Proximal Duplication 0
                Chromosome 14q, Terminal Duplication 0
                Chromosome 15, Trisomy Mosaicism 0
                Chromosome 15q, Trisomy 0
                Chromosome 16, Trisomy 0
                Chromosome 16, Trisomy 16q 0
                Chromosome 17 Trisomy 0
                Chromosome 17, Trisomy 17p 0
                Chromosome 17, Trisomy 17q22 0
                Chromosome 18, Trisomy 18p 0
                Chromosome 18, Trisomy 18q 0
                Chromosome 19, Trisomy 19q 0
                Chromosome 1q, Duplication 1q12 q21 0
                Chromosome 2, Trisomy 2p 0
                Chromosome 2, Trisomy 2p13 p21 0
                Chromosome 2, Trisomy 2pter p24 0
                Chromosome 2, Trisomy 2q 0
                Chromosome 2, Trisomy 2q37 0
                Chromosome 20, Trisomy 0
                Chromosome 21, Uniparental Disomy of 0
                Chromosome 22, Trisomy 0
                Chromosome 22, Trisomy q11 q13 0
                Chromosome 3 Duplication Syndrome 0
                Chromosome 3, Trisomy 3p 0
                Chromosome 3, Trisomy 3p25 0
                Chromosome 3, Trisomy 3q 0
                Chromosome 3, Trisomy 3q13 2 q25 0
                Chromosome 4, Trisomy 4q 0
                Chromosome 4, Trisomy 4q21 0
                Chromosome 4, Trisomy 4q25 qter 0
                Chromosome 5, Monosomy 5q35 0
                Chromosome 5, Trisomy 5pter p13 3 0
                Chromosome 5, Trisomy 5q 6
                Chromosome 5, Uniparental Disomy 0
                Chromosome 6, Trisomy 6p 0
                Chromosome 6, Trisomy 6q 0
                Chromosome 7, Trisomy 7p 0
                Chromosome 7, Trisomy 7p13 p12 2 0
                Chromosome 7, Trisomy 7q 0
                Chromosome 7, Trisomy Mosaic 0
                Chromosome 8, Mosaic Trisomy 0
                Chromosome 8, Partial Trisomy 0
                Chromosome 8, Trisomy 1
                Chromosome 8, Trisomy 8p 0
                Chromosome 8, Trisomy 8q 0
                Chromosome 9, Partial Trisomy 9p 0
                Chromosome 9, Trisomy 0
                Chromosome 9, Trisomy 9p 0
                Chromosome 9, Trisomy 9q 0
                Chromosome 9, Trisomy 9q32 0
                Chromosome 9, Trisomy Mosaic 0
                Chromosome Xq Duplication Syndrome 0
                Distal Trisomy 10q Syndrome 0
                Down syndrome + 60
                Duplication 4p Syndrome 0
                Edwards syndrome 0
                Partial Duplication 15q Syndrome 0
                Partial Trisomy 3q Syndrome 0
                Patau syndrome 0
                Potocki-Lupski syndrome 42
                Pseudotrisomy 13 Syndrome 0
                Triple X Syndrome 0
                Trisomy 18-Like Syndrome 0
                Trisomy 20p 0
                Trisomy 22 Mosaicism Syndrome 0
                Warburton Anyane Yeboa Syndrome 0
                X Chromosome, Duplication Xq13 1 q21 1 0
                X Chromosome, Trisomy Xp3 0
                X Chromosome, Trisomy Xpter Xq13 0
                X Chromosome, Trisomy Xq25 0
                partial trisomy distal 4q 0
paths to the root