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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 chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
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 chr10:56,492,300...56,506,446
Ensembl chr10:56,492,300...56,506,446
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,773,748...55,783,489
Ensembl chr10:55,774,006...55,783,489
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,662,188...56,666,086
Ensembl chr10:56,662,242...56,666,086
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,710,446...56,723,608
Ensembl chr10:56,710,464...56,723,611
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,625,860...55,632,399
Ensembl chr10:55,626,741...55,634,991
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,834,363...56,840,058
Ensembl chr10:56,834,364...56,839,437
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923
JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,576,326...56,578,632
Ensembl chr10:56,576,428...56,578,626
JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,764,927...56,769,447
Ensembl chr10:56,764,927...56,769,457
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,901,929...55,927,121
Ensembl chr10:55,901,901...55,924,158
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 chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,590,822...56,600,235
Ensembl chr10:56,591,292...56,600,232
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,993,206...55,997,429
Ensembl chr10:55,995,823...55,997,299
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:9590285, PMID:10364516, PMID:10583221, PMID:10700698, PMID:11491307, PMID:14648217, PMID:15304085, PMID:16332973, PMID:17785587, PMID:19391112, PMID:19734544, PMID:19835419, PMID:21602826, PMID:22058290, PMID:22299032, PMID:23660516, PMID:24914498, PMID:25741868, PMID:25992652, PMID:28492532, PMID:9590285, PMID:10583221, PMID:23946118, PMID:12522253, PMID:10364516 RGD:734888, RGD:11251734, RGD:11251732, RGD:11251731, RGD:10755414 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,029,022...56,154,602
Ensembl chr10:56,029,029...56,154,548
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,609,810...56,619,269
Ensembl chr10:56,610,051...56,619,269
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,161,431...56,168,819
Ensembl chr10:56,161,432...56,167,426
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,271,257...56,276,764
Ensembl chr10:56,271,257...56,276,764
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,527,075...56,531,615
Ensembl chr10:56,527,085...56,531,483
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,578,980...56,590,706
Ensembl chr10:56,578,985...56,591,364
JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:58,874,028...58,878,445
Ensembl chr10:58,875,826...58,878,445
JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,403,320...56,410,816
Ensembl chr10:56,403,256...56,409,017
JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,237,814...56,257,877
Ensembl chr10:56,237,755...56,257,890
JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,601,288...56,604,223
Ensembl chr10:56,601,288...56,604,221
JBrowse link
G Gar1 GAR1 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22299032 NCBI chr 2:235,250,453...235,258,464
Ensembl chr 2:235,250,453...235,257,731
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,524,327...56,527,447
Ensembl chr10:56,524,468...56,526,987
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687
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 chr10:55,927,228...55,933,653
Ensembl chr10:55,927,223...55,933,653
JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,489,552...56,491,715
Ensembl chr10:56,489,552...56,491,715
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,845,301...56,845,387
Ensembl chr10:56,845,301...56,845,387
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,261,636...56,267,213
Ensembl chr10:56,261,637...56,267,213
JBrowse link
G N4bp3 Nedd4 binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:34,996,702...35,005,365
Ensembl chr10:34,997,008...35,005,287
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,997,614...55,998,691
Ensembl chr10:55,997,614...55,998,691
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,511,861...56,524,233
Ensembl chr10:56,512,615...56,524,229
JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868, PMID:28492532 NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,431,586...56,444,847
Ensembl chr10:56,431,573...56,444,847
JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570891 NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,510,333...55,516,315
Ensembl chr10:55,510,340...55,515,885
JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25893599 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,681,761...55,696,557
Ensembl chr10:55,687,050...55,695,994
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:22267198, PMID:25741868, PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,605,078...56,609,236
Ensembl chr10:56,605,140...56,609,233
JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,452,632...56,458,390
Ensembl chr10:56,453,877...56,458,390
JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,339,277...56,364,888
Ensembl chr10:56,339,284...56,365,084
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,559,049...55,560,420
Ensembl chr10:55,559,041...55,560,422
JBrowse link
G RGD1308134 similar to RIKEN cDNA 1110020A23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,843,846...56,848,265
Ensembl chr10:56,845,383...56,849,255
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 chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943
JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,848,367...56,850,085
Ensembl chr10:56,848,369...56,850,085
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,492,417...55,495,547
Ensembl chr10:55,492,404...55,496,012
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 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,227,703...56,229,796
Ensembl chr10:56,227,692...56,229,850
JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,277,609...56,286,867
Ensembl chr10:56,277,615...56,286,391
JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,822,697...56,826,480
Ensembl chr10:56,822,756...56,826,479
JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,827,591...56,831,324
Ensembl chr10:56,827,594...56,831,243
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,554,911...55,559,083
Ensembl chr10:55,555,089...55,559,082
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,366,578...56,368,360
Ensembl chr10:56,366,609...56,368,360
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503
JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,428,447...56,429,748
Ensembl chr10:56,428,344...56,429,833
JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,424,164...56,426,012
Ensembl chr10:56,424,164...56,426,012
JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:58,895,689...58,924,098
Ensembl chr10:58,895,674...58,924,137
JBrowse link
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
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 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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 chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,410,898...56,413,154
Ensembl chr10:56,410,918...56,412,544
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,446,022...56,447,138
Ensembl chr10:56,445,647...56,447,138
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,998,530...56,000,225
Ensembl chr10:55,998,530...56,000,225
JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,486,778...56,488,723
Ensembl chr10:56,487,417...56,488,723
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,290,780...56,300,137
Ensembl chr10:56,290,780...56,300,077
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,286,964...56,290,680
Ensembl chr10:56,286,887...56,289,952
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,458,650...56,475,183
Ensembl chr10:56,459,108...56,465,393
JBrowse link
G Tp53 tumor protein p53 ISS
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita MouseDO
ClinVar
PMID:28492532 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,924,996...55,926,582
Ensembl chr10:55,924,938...55,926,783
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:55,675,171...55,679,405
Ensembl chr10:55,675,575...55,679,450
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:58,860,647...58,872,782
Ensembl chr10:58,860,940...58,873,674
JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,546,689...56,552,339
Ensembl chr10:56,546,710...56,551,863
JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr10:56,367,586...56,388,296
Ensembl chr10:56,381,813...56,385,960
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 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
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 2:116,416,561...116,418,521
Ensembl chr 2:116,416,507...116,418,582
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 9:43,889,887...44,006,593
Ensembl chr 9:43,889,473...44,004,325
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 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
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, PMID:14630445, PMID:15082312, PMID:15098033, PMID:15319288, PMID:15550482, PMID:15886322, PMID:16332973, PMID:17460043, PMID:17640862, PMID:19095616, PMID:19835419, PMID:20022961, PMID:20193600, PMID:21844345, PMID:21931702, PMID:22341970, PMID:24033266, PMID:25612863, PMID:25741868, PMID:26024875, PMID:26136524, PMID:27192671, PMID:28492532, PMID:29146883, PMID:30426156, PMID:31265491 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
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, 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 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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 chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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, PMID:22211879, PMID:23094712, PMID:26859482, PMID:28492532, PMID:29742735 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
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:17460043, PMID:18042801, PMID:18460650, PMID:18753630, PMID:18931339, PMID:19147845, PMID:19674077, PMID:19760749, PMID:19796246, PMID:20858879, PMID:20966039, PMID:21258621, PMID:21520173, PMID:21520174, PMID:21635204, PMID:22424236, PMID:22476886, PMID:23538340, PMID:23716176, PMID:23901009, PMID:24033266, PMID:24983628, PMID:25108601, PMID:25741868, PMID:25785092, PMID:26024875, PMID:28154186, PMID:28492532, PMID:28677271, PMID:29463756, PMID:29483670, PMID:30426156, PMID:30995915 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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 chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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:21199492, PMID:21477109, PMID:21536674, PMID:22211879, PMID:23094712, PMID:25741868, PMID:26193622, PMID:26859482, PMID:28492532, PMID:29483670, PMID:29742735, PMID:30311386 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
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 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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:25205116, PMID:25233904, PMID:25505254, PMID:25741868, PMID:28492532, PMID:31515401 NCBI chr19:37,665,289...37,668,043
Ensembl chr19:37,665,296...37,667,987
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 chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868, PMID:28492532 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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 chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
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 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739
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 chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
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 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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
OMIM
PMID:18523010 NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
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 chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943
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 chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
JBrowse link
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5 ClinVar PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr 6:11,282,194...11,308,870
Ensembl chr 6:11,281,964...11,298,216
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:19461895, PMID:23329068, PMID:23453664, PMID:23591994, PMID:23829372, PMID:23959892, PMID:24009516, PMID:24033266, PMID:24582487, PMID:25047097, PMID:25099625, PMID:25182133, PMID:25607374, PMID:25620558, PMID:25741868, PMID:25848748, PMID:26022962, PMID:26025130, PMID:26136524, PMID:26808564, PMID:27128385, PMID:27415407, PMID:27418648, PMID:27540018, PMID:27824607, PMID:28099038, PMID:28188499, PMID:28192371, PMID:28492532, PMID:28507545, PMID:28930861, PMID:29344583, PMID:29361909, PMID:30523160 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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:9736620, PMID:25741868, PMID:25848748, PMID:25893599, PMID:26342108, PMID:26482878, PMID:26810774, PMID:28099038, PMID:28414520, PMID:28492532, PMID:31448843 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
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 chr19:37,665,289...37,668,043
Ensembl chr19:37,665,296...37,667,987
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 PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
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:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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 chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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:21199492, PMID:21477109, PMID:21536674, PMID:22211879, PMID:25741868, PMID:26193622, PMID:28492532, PMID:29483670, PMID:30311386 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
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, PMID:10364516, PMID:10438713, PMID:10583221, PMID:10700698, PMID:11379875, PMID:11491307, PMID:12137939, PMID:12437656, PMID:14648217, PMID:15304085, PMID:15842668, PMID:16332973, PMID:18627054, PMID:19391112, PMID:19734544, PMID:19835419, PMID:19879169, PMID:21602826, PMID:22058290, PMID:23660516, PMID:24033266, PMID:24914498, PMID:25326635, PMID:25741868, PMID:25992652, PMID:28492532, PMID:29483670 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      skin disease 2749
        Skin Abnormalities 658
          dyskeratosis congenita 105
            Autosomal Dominant Dyskeratosis Congenita + 9
            Autosomal Recessive Dyskeratosis Congenita + 14
            X-linked dyskeratosis congenita + 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Genetic Skin Diseases 887
              dyskeratosis congenita 105
                Autosomal Dominant Dyskeratosis Congenita + 9
                Autosomal Recessive Dyskeratosis Congenita + 14
                X-linked dyskeratosis congenita + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.