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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 chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
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 chr 5:32,291,804...32,305,236
Ensembl chr 5:32,292,163...32,305,234
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119
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 chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552
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 chr 5:32,878,348...32,888,253
Ensembl chr 5:32,878,338...32,888,316
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752
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 chr 5:33,096,108...33,110,551
Ensembl chr 5:33,098,159...33,121,083
JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,112,365...32,123,785
Ensembl chr 5:32,111,984...32,119,003
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504
JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr11:3,497,860...3,507,513
Ensembl chr11:3,498,153...3,505,034
JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,050,995...32,056,818
Ensembl chr 5:32,050,457...32,056,831
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 chr 5:33,002,458...33,004,555
Ensembl chr 5:33,003,149...33,004,204
JBrowse link
G C5H17orf49 chromosome 5 C17orf49 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,042,545...32,045,347
Ensembl chr 5:32,042,540...32,045,364
JBrowse link
G CD68 CD68 molecule ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
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 chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,375,152...32,383,517
Ensembl chr 5:32,375,215...32,382,929
JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,223,985...32,225,795
Ensembl chr 5:32,224,040...32,226,168
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 chr 5:32,777,242...32,811,747
Ensembl chr 5:32,777,341...32,811,518
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 chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142
JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,211,185...32,216,921
Ensembl chr 5:32,211,343...32,216,698
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 chr 5:32,714,130...32,721,719 JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:146C>T (p.T49M), 361A>G (p.S121G) (human)
ClinVar Annotator: match by term: Dyskeratosis congenita
DNA:missense mutation:exon: p.P409A (c.1226C>G) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutaion:exon, intron:multiple
DNA:missense mutations, deletion: :multiple
RGD
ClinVar
CTD
PMID:9536098 PMID:9590285 PMID:10364516 PMID:10583221 PMID:10700698 More... RGD:10755414 RGD:11251731 RGD:11251732 RGD:11251734 RGD:734888 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126
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 chr 5:32,600,902...32,688,560
Ensembl chr 5:32,602,553...32,688,559
JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,194,326...32,201,922
Ensembl chr 5:32,194,313...32,201,857
JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,588,062...32,592,390
Ensembl chr 5:32,574,134...32,594,333
JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,495,606...32,500,805
Ensembl chr 5:32,484,572...32,500,805
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,268,103...32,272,970 JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,217,752...32,223,729
Ensembl chr 5:32,217,464...32,223,732
JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:30,619,510...30,624,377
Ensembl chr 5:30,619,794...30,624,493
JBrowse link
G FGF11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,368,380...32,375,031
Ensembl chr 5:32,369,831...32,373,020
JBrowse link
G FXR2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,510,830...32,525,680
Ensembl chr 5:32,511,338...32,525,683
JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,207,879...32,209,976
Ensembl chr 5:32,207,887...32,209,908
JBrowse link
G GAR1 GAR1 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22299032 NCBI chr32:29,995,710...30,004,545
Ensembl chr32:29,996,148...30,004,536
JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,273,169...32,275,915
Ensembl chr 5:32,273,173...32,275,580
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
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 chr 5:32,944,351...32,950,433
Ensembl chr 5:32,944,037...32,947,591
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 chr 5:32,777,435...32,783,619
Ensembl chr 5:32,777,791...32,783,611
JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,305,898...32,308,737 JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,689,000...32,711,026
Ensembl chr 5:32,696,211...32,710,666
JBrowse link
G KRBA2 KRAB-A domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,144,223...33,151,175
Ensembl chr 5:33,147,045...33,150,779
JBrowse link
G LOC489461 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,156,746...32,159,927
Ensembl chr 5:32,089,454...32,159,866
JBrowse link
G LOC607405 C-type lectin domain family 10 member A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,088,705...32,093,677
Ensembl chr 5:32,089,454...32,159,866
JBrowse link
G MIR195 microRNA mir-195 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,045,450...32,045,510
Ensembl chr 5:32,045,450...32,045,510
JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,504,644...32,507,903
Ensembl chr 5:32,504,695...32,507,291
JBrowse link
G N4BP3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr11:3,413,107...3,420,763
Ensembl chr11:3,416,804...3,419,194
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 chr 5:32,712,799...32,714,493
Ensembl chr 5:32,712,805...32,713,600
JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,276,032...32,287,432
Ensembl chr 5:32,276,079...32,287,288
JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr11:3,389,549...3,393,010
Ensembl chr11:3,389,591...3,395,313
JBrowse link
G NLGN2 neuroligin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,338,602...32,351,546
Ensembl chr 5:32,340,335...32,352,412
JBrowse link
G NPM1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570891 NCBI chr 4:40,756,464...40,770,174
Ensembl chr 4:40,756,465...40,770,175
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 chr 5:33,118,401...33,121,979
Ensembl chr 5:33,120,604...33,121,945
JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25893599 NCBI chr 6:28,629,137...28,783,671
Ensembl chr 6:28,629,174...28,783,901
JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,957,517...32,972,368
Ensembl chr 5:32,957,127...32,968,465
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 chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,202,636...32,207,738
Ensembl chr 5:32,202,825...32,207,000
JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,326,798...32,332,076
Ensembl chr 5:32,327,475...32,331,401
JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,403,814...32,429,717
Ensembl chr 5:32,403,829...32,429,681
JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533
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 chr 5:33,084,355...33,085,810
Ensembl chr 5:33,084,397...33,085,812
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 chr11:3,393,852...3,409,484
Ensembl chr11:3,393,853...3,407,509
JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,040,334...32,042,291
Ensembl chr 5:32,040,328...32,042,291
JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302
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 chr24:47,219,977...47,248,791 JBrowse link
G SAT2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,534,302...32,536,022
Ensembl chr 5:32,534,310...32,535,846
JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,485,738...32,493,225
Ensembl chr 5:32,484,572...32,500,805
JBrowse link
G SHBG sex hormone binding globulin ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624
JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653
JBrowse link
G SLC16A11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,063,227...32,065,652
Ensembl chr 5:32,063,291...32,065,835
JBrowse link
G SLC16A13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,059,041...32,062,971
Ensembl chr 5:32,059,463...32,062,564
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 chr 5:33,085,781...33,089,379
Ensembl chr 5:33,085,537...33,089,021
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,238,095...32,244,022
Ensembl chr 5:32,238,095...32,244,021
JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,400,371...32,402,843 JBrowse link
G SOX15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,507,869...32,509,763
Ensembl chr 5:32,508,074...32,509,333
JBrowse link
G SPEM1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,354,044...32,357,684
Ensembl chr 5:32,354,153...32,355,401
JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,357,302...32,359,197
Ensembl chr 5:32,357,336...32,359,129
JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:30,600,983...30,614,679
Ensembl chr 5:30,565,639...30,614,673
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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:28492532 NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
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 chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,365,331...32,367,785
Ensembl chr 5:32,366,159...32,367,771
JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,991,000...32,993,319
Ensembl chr 5:32,991,021...32,993,248
JBrowse link
G TMEM256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,336,588...32,337,703 JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,711,289...32,712,281
Ensembl chr 5:32,711,305...32,712,108
JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,309,025...32,311,010
Ensembl chr 5:32,309,129...32,310,965
JBrowse link
G TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,473,543...32,481,596
Ensembl chr 5:32,473,083...32,481,121
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,482,723...32,484,790
Ensembl chr 5:32,482,723...32,484,789
JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,320,029...32,326,829
Ensembl chr 5:32,321,272...32,326,158
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 chr 5:32,784,577...32,786,060
Ensembl chr 5:32,784,846...32,786,163
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 chr 5:32,975,372...32,977,967 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 chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
JBrowse link
G XAF1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:30,626,356...30,636,731
Ensembl chr 5:30,626,356...30,637,130
Ensembl chr 5:30,626,356...30,637,130
JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,244,536...32,250,130
Ensembl chr 5:32,245,056...32,251,985
JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:32,384,353...32,401,658
Ensembl chr 5:32,384,353...32,399,306
JBrowse link
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
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 chr34:34,372,244...34,374,702
Ensembl chr34:34,370,536...34,375,174
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 chr10:44,086,533...44,221,225
Ensembl chr10:44,089,025...44,145,506
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 chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276
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 chr24:47,219,977...47,248,791 JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:12167716 PMID:15885610 PMID:16247010 PMID:16627250 PMID:16990594 More... NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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 chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18252230 PMID:18669893 PMID:19090550 PMID:21199492 PMID:21536674 More... NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
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 OMIM NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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 chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO OMIM NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
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 chr24:47,219,977...47,248,791 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 OMIM NCBI chr 5:81,789,915...81,792,725
Ensembl chr 5:81,789,997...81,792,639
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 chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142
JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:3,389,549...3,393,010
Ensembl chr11:3,389,591...3,395,313
JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
CTD
ClinVar
NCBI chr30:766,801...767,615
Ensembl chr30:766,853...767,613
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO DNA:mutations:exons:
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
RGD
ClinVar
PMID:21205863 PMID:25741868 PMID:28492532 RGD:21081678 NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
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 ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar PMID:18523010 NCBI chr11:3,389,549...3,393,010
Ensembl chr11:3,389,591...3,395,313
JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO OMIM NCBI chr30:766,801...767,615
Ensembl chr30:766,853...767,613
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 chr11:3,393,852...3,409,484
Ensembl chr11:3,393,853...3,407,509
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487
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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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 OMIM NCBI chr11:3,389,549...3,393,010
Ensembl chr11:3,389,591...3,395,313
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 chr11:3,393,852...3,409,484
Ensembl chr11:3,393,853...3,407,509
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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO OMIM NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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 chr24:47,250,442...47,256,637
Ensembl chr24:47,251,705...47,256,614
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO OMIM NCBI chr24:47,219,977...47,248,791 JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5 ClinVar PMID:24033266 PMID:28492532 NCBI chr24:47,248,931...47,250,488
Ensembl chr24:47,248,312...47,250,380
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 OMIM NCBI chr 6:28,629,137...28,783,671
Ensembl chr 6:28,629,174...28,783,901
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 PMID:25205116 PMID:25233904 PMID:28492532 NCBI chr 5:81,789,915...81,792,725
Ensembl chr 5:81,789,997...81,792,639
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 chr17:51,701,663...51,732,022
Ensembl chr17:51,701,979...51,711,489
JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome
ClinVar PMID:28492532 NCBI chr17:51,711,267...51,716,806
Ensembl chr17:51,711,284...51,716,345
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 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884
JBrowse link
G SYT6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr17:51,859,564...51,923,044
Ensembl chr17:51,864,774...51,924,676
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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 chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO OMIM NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
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 OMIM NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13806
    sensory system disease 5160
      skin disease 2713
        Skin Abnormalities 739
          dyskeratosis congenita 108
            Autosomal Dominant Dyskeratosis Congenita + 8
            Autosomal Recessive Dyskeratosis Congenita + 14
            X-linked dyskeratosis congenita + 5
Path 2
Term Annotations click to browse term
  disease 13806
    disease of anatomical entity 13463
      nervous system disease 11157
        sensory system disease 5160
          skin disease 2713
            Genetic Skin Diseases 993
              dyskeratosis congenita 108
                Autosomal Dominant Dyskeratosis Congenita + 8
                Autosomal Recessive Dyskeratosis Congenita + 14
                X-linked dyskeratosis congenita + 5
paths to the root