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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:autosomal dominant dyskeratosis congenita 6
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Accession:DOID:0070023 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: DKCA6
 broad_synonym: ACD-RELATED CONDITION
 related_synonym: DKCB7;   DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
 primary_id: MIM:616553

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autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,540,969...12,566,989
Ensembl chrNW_004624746:12,540,633...12,567,376 		JBrowse link
G Acd ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: ACD-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25205116 PMID:25233904 More... NCBI chrNW_004624746:18,688,898...18,692,216
Ensembl chrNW_004624746:18,689,364...18,695,944 		JBrowse link
G Agrp agouti related neuropeptide ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,826,206...18,827,453
Ensembl chrNW_004624746:18,826,545...18,827,299 		JBrowse link
G Ap1g1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:13,997,903...14,081,140
Ensembl chrNW_004624746:13,997,681...14,081,197 		JBrowse link
G Atp6v0d1 ATPase H+ transporting V0 subunit d1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,828,025...18,883,128
Ensembl chrNW_004624746:18,828,024...18,883,128 		JBrowse link
G Atxn1l ataxin 1 like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:14,119,413...14,130,622
Ensembl chrNW_004624746:14,119,440...14,130,429 		JBrowse link
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,165,895...19,170,539 JBrowse link
G Bean1 brain expressed associated with NEDD4 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,970,532...20,015,592
Ensembl chrNW_004624746:19,969,508...20,015,660 		JBrowse link
G Ca7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,640,436...19,648,708
Ensembl chrNW_004624746:19,640,463...19,648,615 		JBrowse link
G Calb2 calbindin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:13,549,339...13,577,929
Ensembl chrNW_004624746:13,548,540...13,578,501 		JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,692,179...18,704,952
Ensembl chrNW_004624746:18,692,225...18,704,476 		JBrowse link
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,204,415...19,264,217
Ensembl chrNW_004624746:19,204,392...19,264,194 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581 		JBrowse link
G Cdh16 cadherin 16 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,590,590...19,600,101
Ensembl chrNW_004624746:19,590,445...19,602,672 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,616,296...17,659,021
Ensembl chrNW_004624746:17,616,940...17,658,548 		JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:20,028,952...20,068,029
Ensembl chrNW_004624746:20,033,008...20,057,595 		JBrowse link
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,530,574...18,538,437
Ensembl chrNW_004624746:18,532,732...18,538,326 		JBrowse link
G Ces3 carboxylesterase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,303,777...19,333,227
Ensembl chrNW_004624746:19,304,136...19,332,972 		JBrowse link
G Ces4a carboxylesterase 4A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,281,382...19,301,884 JBrowse link
G Chst4 carbohydrate sulfotransferase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:13,728,973...13,740,231
Ensembl chrNW_004624746:13,738,110...13,739,261 		JBrowse link
G Chtf8 chromosome transmission fidelity factor 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,206,003...17,218,678
Ensembl chrNW_004624746:17,206,000...17,217,856 		JBrowse link
G Cmtm3 CKLF like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,830,839...19,840,350
Ensembl chrNW_004624746:19,830,839...19,839,430 		JBrowse link
G Cmtm4 CKLF like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,769,097...19,830,224
Ensembl chrNW_004624746:19,768,943...19,824,173 		JBrowse link
G Cmtr2 cap methyltransferase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:13,475,463...13,484,063
Ensembl chrNW_004624746:13,475,816...13,484,046 		JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,715,437...12,747,187
Ensembl chrNW_004624746:12,715,437...12,747,823 		JBrowse link
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,034,542...17,041,421
Ensembl chrNW_004624746:17,034,590...17,041,288 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203 		JBrowse link
G Ctrl chymotrypsin like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,447,042...18,449,888
Ensembl chrNW_004624746:18,447,574...18,449,964 		JBrowse link
G CUNH16orf86 chromosome unknown C16orf86 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,680,021...18,682,578
Ensembl chrNW_004624746:18,678,607...18,682,464 		JBrowse link
G Ddx19b DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,569,308...12,592,168
Ensembl chrNW_004624746:12,569,331...12,587,821 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:14,254,811...14,268,034
Ensembl chrNW_004624746:14,254,193...14,268,034 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:14,301,921...14,319,649
Ensembl chrNW_004624746:14,301,922...14,337,152 		JBrowse link
G Dus2 dihydrouridine synthase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,216,066...18,269,840
Ensembl chrNW_004624746:18,214,301...18,269,506 		JBrowse link
G Dync1li2 dynein cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,727,861...19,752,220
Ensembl chrNW_004624746:19,728,018...19,750,640 		JBrowse link
G E2f4 E2F transcription factor 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,117,582...19,124,261
Ensembl chrNW_004624746:19,118,393...19,124,196 		JBrowse link
G Edc4 enhancer of mRNA decapping 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,492,486...18,504,211
Ensembl chrNW_004624746:18,491,196...18,504,301 		JBrowse link
G Elmo3 engulfment and cell motility 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,112,808...19,117,406
Ensembl chrNW_004624746:19,112,808...19,117,494 		JBrowse link
G Enkd1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,676,146...18,686,739
Ensembl chrNW_004624746:18,682,597...18,686,735 		JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,075,755...18,090,011
Ensembl chrNW_004624746:18,075,742...18,085,572 		JBrowse link
G Exoc3l1 exocyst complex component 3 like 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,128,010...19,133,703
Ensembl chrNW_004624746:19,127,860...19,133,639 		JBrowse link
G Exosc6 exosome component 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,538,315...12,539,678
Ensembl chrNW_004624746:12,538,775...12,539,593 		JBrowse link
G Fbxl8 F-box and leucine rich repeat protein 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,151,583...19,155,069
Ensembl chrNW_004624746:19,151,929...19,154,572 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,695,007...12,715,173
Ensembl chrNW_004624746:12,694,660...12,714,574 		JBrowse link
G Fhod1 formin homology 2 domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,072,775...19,090,561
Ensembl chrNW_004624746:19,074,290...19,090,337 		JBrowse link
G Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,634,600...18,677,974
Ensembl chrNW_004624746:18,634,576...18,676,046 		JBrowse link
G Has3 hyaluronan synthase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,218,792...17,235,499 JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,883,587...18,889,205
Ensembl chrNW_004624746:18,883,353...18,889,402 		JBrowse link
G Hydin HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,997,012...13,417,034 JBrowse link
G Il34 interleukin 34 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,793,797...12,867,591
Ensembl chrNW_004624746:12,861,018...12,867,587 		JBrowse link
G Kctd19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,004,964...19,037,146
Ensembl chrNW_004624746:19,005,068...19,036,989 		JBrowse link
G Lcat lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,438,308...18,441,650
Ensembl chrNW_004624746:18,437,429...18,441,806 		JBrowse link
G LOC101712938 cytochrome b5 type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:16,905,967...16,942,861 JBrowse link
G Lrrc29 Leucine-rich repeat-containing protein 29 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,093,319...19,110,501 JBrowse link
G Lrrc36 leucine rich repeat containing 36 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,930,738...18,995,465
Ensembl chrNW_004624746:18,928,761...19,004,889 		JBrowse link
G Marveld3 MARVEL domain containing 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:13,898,857...13,914,032 JBrowse link
G Matcap1 microtubule associated tyrosine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,133,871...19,141,587
Ensembl chrNW_004624746:19,134,377...19,141,462 		JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,868,006...12,887,616
Ensembl chrNW_004624746:12,867,679...12,887,578 		JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,648,365...19,687,884
Ensembl chrNW_004624746:19,658,632...19,687,884 		JBrowse link
G Nfat5 nuclear factor of activated T cells 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:16,684,556...16,818,321
Ensembl chrNW_004624746:16,684,407...16,818,430 		JBrowse link
G Nfatc3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,083,051...18,210,399
Ensembl chrNW_004624746:18,085,518...18,210,401 		JBrowse link
G Nip7 nucleolar pre-rRNA processing protein NIP7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,021,139...17,034,443
Ensembl chrNW_004624746:17,028,639...17,034,391 		JBrowse link
G Nob1 NIN1 (RPN12) binding protein 1 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:16,661,039...16,672,600
Ensembl chrNW_004624746:16,661,126...16,675,962 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479 		JBrowse link
G Nrn1l neuritin 1 like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,490,582...18,492,300
Ensembl chrNW_004624746:18,490,760...18,492,130 		JBrowse link
G Nutf2 nuclear transport factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,505,935...18,525,335
Ensembl chrNW_004624746:18,504,303...18,524,957 		JBrowse link
G Pard6a par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,686,916...18,688,739
Ensembl chrNW_004624746:18,686,921...18,688,703 		JBrowse link
G Pdf peptide deformylase, mitochondrial ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,041,370...17,043,985
Ensembl chrNW_004624746:17,041,374...17,043,966 		JBrowse link
G Pdp2 pyruvate dehyrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,605,201...19,623,089
Ensembl chrNW_004624746:19,618,748...19,622,755 		JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,426,081...12,492,966
Ensembl chrNW_004624746:12,423,917...12,492,966 		JBrowse link
G Phaf1 phagosome assembly factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,170,115...19,197,608 JBrowse link
G Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:13,917,070...13,994,212
Ensembl chrNW_004624746:13,919,557...13,994,182 		JBrowse link
G Pkd1l3 polycystin 1 like 3, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:14,191,382...14,243,579 JBrowse link
G Pla2g15 phospholipase A2 group XV ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,048,370...18,063,297
Ensembl chrNW_004624746:18,048,246...18,063,291 		JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,037,195...19,046,741 JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,949,443...18,017,344
Ensembl chrNW_004624746:17,948,085...18,001,259 		JBrowse link
G Pskh1 protein serine kinase H1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,450,197...18,485,102
Ensembl chrNW_004624746:18,450,195...18,468,080 		JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,442,865...18,445,731
Ensembl chrNW_004624746:18,442,478...18,445,731 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,558,660...18,629,132
Ensembl chrNW_004624746:18,558,468...18,629,824 		JBrowse link
G Ripor1 RHO family interacting cell polarization regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,773,092...18,792,182
Ensembl chrNW_004624746:18,772,930...18,792,217 		JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,584,061...19,587,476
Ensembl chrNW_004624746:19,583,541...19,587,598 		JBrowse link
G Sf3b3 splicing factor 3b subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,747,346...12,793,639
Ensembl chrNW_004624746:12,747,382...12,793,643 		JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,414,589...18,438,278
Ensembl chrNW_004624746:18,414,520...18,441,806 		JBrowse link
G Slc7a6 solute carrier family 7 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,009,078...18,046,072
Ensembl chrNW_004624746:18,013,340...18,032,390 		JBrowse link
G Slc7a6os solute carrier family 7 member 6 opposite strand ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,001,309...18,009,307
Ensembl chrNW_004624746:18,001,346...18,008,013 		JBrowse link
G Slc9a5 solute carrier family 9 member A5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,051,508...19,074,103
Ensembl chrNW_004624746:19,051,515...19,074,076 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,857,779...17,948,469
Ensembl chrNW_004624746:17,920,835...17,948,468 		JBrowse link
G Sntb2 syntrophin beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,063,597...17,167,452
Ensembl chrNW_004624746:17,067,067...17,167,477 		JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,623,966...12,680,430
Ensembl chrNW_004624746:12,623,730...12,680,436 		JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,257,788...17,476,029
Ensembl chrNW_004624746:17,254,573...17,476,097 		JBrowse link
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:13,793,593...13,803,227
Ensembl chrNW_004624746:13,790,440...13,803,202 		JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,689,127...19,726,972
Ensembl chrNW_004624746:19,697,909...19,720,724 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:16,992,049...17,020,809
Ensembl chrNW_004624746:16,992,110...17,019,857 		JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,527,396...18,530,145
Ensembl chrNW_004624746:18,511,684...18,530,149 		JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,902,232...19,953,113
Ensembl chrNW_004624746:19,902,287...19,955,455 		JBrowse link
G Tmed6 transmembrane p24 trafficking protein 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,024,204...17,031,358
Ensembl chrNW_004624746:17,023,955...17,031,619 		JBrowse link
G Tmem208 transmembrane protein 208 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,090,985...19,093,278
Ensembl chrNW_004624746:19,090,985...19,093,273 		JBrowse link
G Tppp3 tubulin polymerization promoting protein family member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,922,539...18,926,195
Ensembl chrNW_004624746:18,922,164...18,926,543 		JBrowse link
G Tradd TNFRSF1A associated via death domain ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:19,155,058...19,165,702
Ensembl chrNW_004624746:19,155,113...19,165,705 		JBrowse link
G Tsnaxip1 translin associated factor X interacting protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,538,528...18,558,518
Ensembl chrNW_004624746:18,535,133...18,558,094 		JBrowse link
G Txnl4b thioredoxin like 4B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:14,293,415...14,301,700
Ensembl chrNW_004624746:14,293,179...14,301,668 		JBrowse link
G Utp4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,176,390...17,205,960
Ensembl chrNW_004624746:17,172,124...17,206,262 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:12,889,010...12,992,318
Ensembl chrNW_004624746:12,888,208...12,992,397 		JBrowse link
G Vps4a vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,044,173...17,059,295
Ensembl chrNW_004624746:17,047,519...17,054,738 		JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:16,501,320...16,661,423
Ensembl chrNW_004624746:16,501,324...16,654,691 		JBrowse link
G Zdhhc1 zinc finger DHHC-type containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:18,901,622...18,921,798
Ensembl chrNW_004624746:18,901,589...18,922,066 		JBrowse link
G Zfp90 ZFP90 zinc finger protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:17,756,506...17,772,293 JBrowse link
G Znf23 zinc finger protein 23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:13,633,182...13,676,121
Ensembl chrNW_004624746:13,633,902...13,639,348 		JBrowse link
G Znf821 zinc finger protein 821 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chrNW_004624746:14,132,591...14,159,619
Ensembl chrNW_004624746:14,131,783...14,159,073 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    sensory system disease 6227
      skin disease 3588
        Genetic Skin Diseases 1703
          dyskeratosis congenita 296
            Autosomal Dominant Dyskeratosis Congenita 140
              autosomal dominant dyskeratosis congenita 6 108
Path 2
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      nervous system disease 12061
        Neurologic Manifestations 8868
          sensory system disease 6227
            skin disease 3588
              Genetic Skin Diseases 1703
                dyskeratosis congenita 296
                  Autosomal Dominant Dyskeratosis Congenita 140
                    autosomal dominant dyskeratosis congenita 6 108
paths to the root