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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:dyskeratosis congenita
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Accession:DOID:2729 term browser browse the term
Definition:A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
Synonyms:primary_id: MESH:D019871
 alt_id: DOID:0070025;   RDO:0001491
 xref: GARD:10905;   NCI:C111802;   OMIM:PS127550;   ORDO:1775
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dyskeratosis congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,650,521...53,662,914
Ensembl chr10:53,650,553...53,663,913
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18076099 PMID:22267198 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations, deletion: :multiple
ClinVar Annotator: match by term: Dyskeratosis congenita
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:146C>T (p.T49M), 361A>G (p.S121G) (human)
DNA:missense mutation:exon: p.P409A (c.1226C>G) (human)
DNA:missense mutations, splice-site mutaion:exon, intron:multiple
ClinVar
CTD
PMID:9536098 PMID:9590285 PMID:10364516 PMID:10583221 PMID:10700698 More... RGD:734888, RGD:11251734, RGD:11251732, RGD:11251731, RGD:10755414
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,384,345...54,389,853
Ensembl chr10:54,384,347...54,389,858
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,714,834...54,717,769
Ensembl chr10:54,714,198...54,717,765
JBrowse link
G Gar1 GAR1 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22299032 NCBI chr 2:218,375,231...218,382,509
Ensembl chr 2:218,375,353...218,382,524
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G N4bp3 Nedd4 binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:35,898,031...35,906,704
Ensembl chr10:35,899,096...35,907,001
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545
JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,544,588...54,557,854
Ensembl chr10:54,544,588...54,558,434
JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570891 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359
JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25893599 NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:9536098 PMID:17576681 PMID:22267198 PMID:22387016 PMID:25741868 More... NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,718,608...54,722,784
Ensembl chr10:54,717,724...54,722,782
JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
JBrowse link
G RGD1308134 similar to RIKEN cDNA 1110020A23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,954,904...54,956,622 JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,061,054...54,061,726
Ensembl chr10:54,059,947...54,063,010
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:19461895 PMID:23329068 PMID:23453664 PMID:23829372 PMID:23959892 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,373,602...54,376,591
Ensembl chr10:54,372,403...54,376,591
JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
JBrowse link
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita
CTD
ClinVar
PMID:16247010 PMID:17785587 PMID:18042801 PMID:24033266 PMID:25741868 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,523,901...54,525,999
Ensembl chr10:54,523,585...54,525,990
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
JBrowse link
G Tp53 tumor protein p53 ISS
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita MouseDO
ClinVar
PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,917,284...56,929,791
Ensembl chr10:56,917,121...56,929,770
JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
JBrowse link
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt3 actin-related protein T3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar NCBI chr 2:112,799,061...112,801,021
Ensembl chr 2:112,799,011...112,801,075
JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:15849264 PMID:21931702 PMID:25741868 NCBI chr 9:39,528,245...39,650,574
Ensembl chr 9:39,528,674...39,646,581
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868 PMID:27192671 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868 PMID:28492532 PMID:29344583 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 OMIM
ClinVar
PMID:10721988 PMID:11574891 PMID:12090986 PMID:12676774 PMID:12972604 More... NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISS
ISO
OMIM:127550
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
MouseDO
ClinVar
PMID:12167716 PMID:15885610 PMID:16247010 PMID:16627250 PMID:16990594 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISS
ISO
OMIM:127550
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
MouseDO
ClinVar
PMID:18252230 PMID:18669893 PMID:19090550 PMID:21199492 PMID:21536674 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 2 ClinVar
OMIM
PMID:15814878 PMID:15885610 PMID:16247010 PMID:16627250 PMID:17392301 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 3 ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 3
ClinVar Annotator: match by OMIM:613990
OMIM
ClinVar
PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:20979174 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 4 ClinVar PMID:23329068 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25205116 PMID:25233904 PMID:25505254 More... NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
JBrowse link
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
DNA:mutations:exons:
ClinVar PMID:25741868 PMID:28492532 PMID:21205863 RGD:21081678 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhp2 NHP2 ribonucleoprotein ISO
ISS
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1
OMIM:224230
ClinVar
MouseDO
PMID:18523010 NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar
OMIM
PMID:17507419 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar PMID:18523010 NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar PMID:17785587 PMID:26887940 PMID:28192371 PMID:28492532 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by OMIM:613987
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2
ClinVar
OMIM
PMID:18523010 PMID:25741868 PMID:28492532 NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545
JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 ClinVar PMID:18523010 PMID:25741868 PMID:28492532 NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
JBrowse link
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3 ClinVar PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3
ClinVar Annotator: match by OMIM:613988
OMIM
ClinVar
PMID:17683073 PMID:21205863 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 4 ClinVar PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5 ClinVar NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5
ClinVar Annotator: match by OMIM:615190
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23329068 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 6
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6
ClinVar Annotator: match by OMIM:616353
ClinVar
OMIM
PMID:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:25640679 More... NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
JBrowse link
Autosomal Recessive Dyskeratosis Congenita 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7
ClinVar PMID:25205116 PMID:25233904 PMID:28492532 NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
Revesz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Revesz syndrome ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Revesz syndrome
ClinVar Annotator: match by OMIM:268130
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:20979174 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
X-linked dyskeratosis congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked
ClinVar Annotator: match by term: Dyskeratosis congenita X-linked
OMIM
ClinVar
PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 PMID:9590285 More...

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    sensory system disease 5611
      skin disease 2954
        Skin Abnormalities 766
          dyskeratosis congenita 107
            Autosomal Dominant Dyskeratosis Congenita + 9
            Autosomal Recessive Dyskeratosis Congenita + 13
            X-linked dyskeratosis congenita + 5
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          skin disease 2954
            Genetic Skin Diseases 1046
              dyskeratosis congenita 107
                Autosomal Dominant Dyskeratosis Congenita + 9
                Autosomal Recessive Dyskeratosis Congenita + 13
                X-linked dyskeratosis congenita + 5
paths to the root