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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 chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
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 chr17:7,370,732...7,385,730
Ensembl chr17:7,356,893...7,371,844
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,026,839...7,041,598
Ensembl chr17:7,014,591...7,029,602
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,609,146...43,619,713
Ensembl chr17:48,340,777...48,350,808
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,336,764...43,349,787
Ensembl chr17:48,070,223...48,082,499
JBrowse link
G ASGR1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,203,387...7,209,602
Ensembl chr17:7,191,076...7,196,992
JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,131,490...7,145,110
Ensembl chr17:7,119,432...7,133,520
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834
JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158
JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,053,841...7,061,523
Ensembl chr17:7,042,775...7,046,741
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,467,811...43,470,061
Ensembl chr17:48,200,155...48,201,228
JBrowse link
G C17H17orf49 chromosome 17 C17orf49 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,045,486...7,048,370
Ensembl chr17:7,033,360...7,036,634
JBrowse link
G CD68 CD68 molecule ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,479,056...7,490,314
Ensembl chr17:7,465,229...7,476,099
JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,289,766...7,292,433
Ensembl chr17:7,277,313...7,281,859
JBrowse link
G CLEC10A C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,104,887...7,111,883
Ensembl chr17:7,092,968...7,097,462
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,967,297...7,983,743
Ensembl chr17:7,953,660...7,970,148
JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:25843205 PMID:28135719 PMID:28492532 PMID:29228254 PMID:29481669 PMID:30311386 PMID:30393977 NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537
JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,273,460...7,281,158
Ensembl chr17:7,260,803...7,269,003
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutation:exon: p.P409A (c.1226C>G) (human)
ClinVar Annotator: match by term: Dyskeratosis congenita
DNA:missense mutations, deletion: :multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutaion:exon, intron:multiple
DNA:missense mutations:exon:146C>T (p.T49M), 361A>G (p.S121G) (human)
RGD
ClinVar
CTD
PMID:9590285 PMID:10364516 PMID:10583221 PMID:10700698 PMID:11491307 PMID:12522253 PMID:14648217 PMID:15304085 PMID:16332973 PMID:17785587 PMID:19391112 PMID:19734544 PMID:19835419 PMID:21602826 PMID:22058290 PMID:22299032 PMID:23660516 PMID:23946118 PMID:24914498 PMID:25741868 PMID:25992652 PMID:28492532 RGD:10755414 RGD:11251731 RGD:11251732 RGD:11251734 RGD:734888 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,746,731...7,867,426
Ensembl chr17:7,739,573...7,853,752
JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,255,241...7,264,452
Ensembl chr17:7,242,493...7,251,571
JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,737,297...7,743,732
Ensembl chr17:7,724,983...7,731,270
JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,604,331...7,610,302
Ensembl chr17:7,590,569...7,596,876
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,341,076...7,346,570
Ensembl chr17:7,327,363...7,333,270
JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,281,571...7,289,800 JBrowse link
G FAM153A family with sequence similarity 153 member A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:173,014,034...173,045,815 JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:6,806,312...6,818,183
Ensembl chr17:6,795,514...6,806,969
JBrowse link
G FGF11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,472,262...7,478,927
Ensembl chr17:7,459,880...7,465,105
JBrowse link
G FXR2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,622,855...7,646,340
Ensembl chr17:7,609,736...7,631,758
JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,270,316...7,272,365
Ensembl chr17:7,257,659...7,260,276
JBrowse link
G GAR1 GAR1 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22299032 NCBI chr 4:102,311,275...102,320,579
Ensembl chr 4:112,879,223...112,887,828
JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,346,766...7,349,682
Ensembl chr17:7,333,571...7,335,871
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,530,919...43,537,999 JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,956,961...7,965,450
Ensembl chr17:7,943,403...7,951,477
JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,386,148...7,389,198
Ensembl chr17:7,373,315...7,374,013
JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937
JBrowse link
G KRBA2 KRAB-A domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,282,744...43,291,426
Ensembl chr17:48,021,804...48,024,433
JBrowse link
G LOC100970954 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,892,814...7,897,251
Ensembl chr17:7,879,163...7,883,719
JBrowse link
G LOC100978213 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,581,163...7,589,809
Ensembl chr17:7,567,766...7,575,575
JBrowse link
G LOC100995017 XIAP-associated factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:6,785,040...6,806,177
Ensembl chr17:6,774,951...6,794,947
JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,615,281...7,619,831
Ensembl chr17:7,601,561...7,610,378
JBrowse link
G N4BP3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 5:173,272,475...173,286,062
Ensembl chr 5:180,531,017...180,544,005
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932
JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,349,739...7,363,419
Ensembl chr17:7,336,447...7,349,473
JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:173,308,560...173,313,046
Ensembl chr 5:180,566,008...180,570,502
JBrowse link
G NLGN2 neuroligin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,438,853...7,454,014 JBrowse link
G NPM1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570891 NCBI chr 5:166,735,904...166,756,321
Ensembl chr 5:173,490,197...173,510,656
JBrowse link
G ODF4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,313,586...43,320,058
Ensembl chr17:48,046,835...48,053,135
JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25893599 NCBI chr16:13,363,879...13,556,054
Ensembl chr16:14,787,881...14,977,786
JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,502,080...43,518,098
Ensembl chr17:48,234,360...48,250,391
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198 PMID:25741868 PMID:28492532 NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720
JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,264,944...7,269,549
Ensembl chr17:7,252,024...7,256,756
JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,423,903...7,429,026
Ensembl chr17:7,410,668...7,414,409
JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,516,940...7,546,989
Ensembl chr17:7,502,807...7,532,521
JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,369,556...43,371,025
Ensembl chr17:48,101,744...48,103,394
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 chr 5:173,290,007...173,307,663
Ensembl chr 5:180,548,381...180,565,094
JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,043,269...7,045,379
Ensembl chr17:7,031,283...7,033,393
JBrowse link
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,274,839...43,282,606
Ensembl chr17:48,009,198...48,015,977
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 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26025130 PMID:26808564 PMID:27128385 PMID:27415407 PMID:27418648 PMID:28099038 PMID:28492532 PMID:28930861
G SAT2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,657,166...7,658,773
Ensembl chr17:7,643,490...7,645,127
JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,593,904...7,603,538 JBrowse link
G SHBG sex hormone binding globulin ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552
JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
JBrowse link
G SLC16A11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,072,436...7,075,242 JBrowse link
G SLC16A13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,066,765...7,071,082
Ensembl chr17:7,055,038...7,059,170
JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,364,198...43,369,582
Ensembl chr17:48,096,764...48,102,215
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344
JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,513,826...7,516,477 JBrowse link
G SOX15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,619,804...7,621,791
Ensembl chr17:7,606,086...7,608,632
JBrowse link
G SPEM1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,454,453...7,455,791
Ensembl chr17:7,441,032...7,442,342
JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,458,605...7,461,545
Ensembl chr17:7,449,092...7,453,041
Ensembl chr17:7,449,092...7,453,041
JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:6,830,517...6,862,596
Ensembl chr17:6,819,230...6,851,014
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 PMID:26024875 PMID:28492532 PMID:31119896 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18669893 PMID:21199492 PMID:22211879 PMID:28492532 NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
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:18252230 PMID:18669893 PMID:19090550 PMID:21199492 PMID:21536674 PMID:22211879 PMID:23094712 PMID:25741868 PMID:26193622 PMID:26859482 PMID:28492532 PMID:29742735 PMID:30311386 NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,469,096...7,471,645
Ensembl chr17:7,455,716...7,457,947
JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,481,043...43,485,189
Ensembl chr17:48,214,392...48,217,773
JBrowse link
G TMEM256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,437,147...7,438,323 JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,889,870...7,891,032
Ensembl chr17:7,876,294...7,877,517
JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,389,244...7,391,773
Ensembl chr17:7,375,571...7,377,086
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834
JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,403,403...7,423,942
Ensembl chr17:7,403,209...7,409,366
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TRAPPC1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,965,454...7,967,172
Ensembl chr17:7,951,885...7,953,365
JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:43,495,464...43,499,348 JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,319,186...7,325,594
Ensembl chr17:7,306,548...7,312,632
JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:7,491,971...7,516,823
Ensembl chr17:7,477,848...7,497,062
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 chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
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 3:166,780,316...166,783,758
Ensembl chr 3:174,834,118...174,837,345
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 chr2A:100,720,587...100,867,228
Ensembl chr2A:99,428,904...99,499,350
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 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252
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 PMID:18042801 PMID:18635888 PMID:18931339 PMID:21602826 PMID:23901009 PMID:24033266 PMID:25365545 PMID:25562321 PMID:25741868 PMID:26329388 PMID:26360549 PMID:26887940 PMID:27418648 PMID:28154186 PMID:28492532 PMID:28813500 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
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 chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
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 PMID:22211879 PMID:23094712 PMID:26859482 PMID:28492532 PMID:29742735 NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
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 chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
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 chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO OMIM NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
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:25741868 PMID:27128385 PMID:28099038 PMID:28492532 PMID:28930861
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 chr16:48,001,408...48,004,620
Ensembl chr16:67,390,703...67,393,685
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 chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537
JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:173,308,560...173,313,046
Ensembl chr 5:180,566,008...180,570,502
JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
CTD
ClinVar
NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
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 chr 5:173,308,560...173,313,046
Ensembl chr 5:180,566,008...180,570,502
JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO OMIM NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305
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 chr 5:173,290,007...173,307,663
Ensembl chr 5:180,548,381...180,565,094
JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar NCBI chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061
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 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
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 chr 5:173,308,560...173,313,046
Ensembl chr 5:180,566,008...180,570,502
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 NCBI chr 5:173,290,007...173,307,663
Ensembl chr 5:180,548,381...180,565,094
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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO OMIM NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
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 PMID:18931339 PMID:21258621 PMID:21602826 PMID:23901009 PMID:24033266 PMID:25365545 PMID:25741868 PMID:26887940 PMID:27418648 PMID:28192371 PMID:28492532 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
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 Ensembl chr20:61,622,386...61,630,949 JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO OMIM
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5 ClinVar PMID:24033266 Ensembl chr20:61,618,321...61,621,611 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 chr16:13,363,879...13,556,054
Ensembl chr16:14,787,881...14,977,786
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 chr16:48,001,408...48,004,620
Ensembl chr16:67,390,703...67,393,685
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 1:88,643,664...88,651,962
Ensembl chr 1:123,692,915...123,701,403
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:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
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 chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO OMIM NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
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:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12771
    sensory system disease 4826
      skin disease 2527
        Skin Abnormalities 635
          dyskeratosis congenita 104
            Autosomal Dominant Dyskeratosis Congenita + 8
            Autosomal Recessive Dyskeratosis Congenita + 14
            X-linked dyskeratosis congenita + 3
Path 2
Term Annotations click to browse term
  disease 12771
    disease of anatomical entity 12303
      nervous system disease 10063
        sensory system disease 4826
          skin disease 2527
            Genetic Skin Diseases 839
              dyskeratosis congenita 104
                Autosomal Dominant Dyskeratosis Congenita + 8
                Autosomal Recessive Dyskeratosis Congenita + 14
                X-linked dyskeratosis congenita + 3
paths to the root