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
Accession: DOID:2729
browse the term
Definition: A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. (DO)
Synonyms: primary_id: MESH:D019871
alt_id: DOID:0070025
xref: GARD:10905 ; NCI:C111802 ; OMIM:PS127550 ; ORDO:1775
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcd1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Acap1
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Alox15b
arachidonate 15-lipoxygenase, type B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Arhgap4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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Arhgef15
Rho guanine nucleotide exchange factor 15
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913
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Asgr1
asialoglycoprotein receptor 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
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Asgr2
asialoglycoprotein receptor 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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Avpr2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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B4galt7
beta-1,4-galactosyltransferase 7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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Bcap31
B-cell receptor-associated protein 31
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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Bcl6b
BCL6B, transcription repressor
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
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Bgn
biglycan
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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Brcc3
BRCA1/BRCA2-containing complex subunit 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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C10h17orf49
similar to human chromosome 17 open reading frame 49
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
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Ccnq
cyclin Q
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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Cd68
Cd68 molecule
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Chd3
chromodomain helicase DNA binding protein 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
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Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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Clec10a
C-type lectin domain containing 10A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
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Clic2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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Cmc4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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Cntrob
centrobin, centriole duplication and spindle assembly protein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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Ctag2
cancer/testis antigen 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23172776 PMID:23220793 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28135719 PMID:28492532 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30393977 PMID:30523342 PMID:30891747 PMID:30995915 PMID:31785789 PMID:32483926 PMID:34573280 PMID:34706368 More...
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
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Cyb5d1
cytochrome b5 domain containing 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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Dkc1
dyskerin pseudouridine synthase 1
ISO ISS
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 MouseDO CTD RGD
PMID:768476 PMID:7607282 PMID:9536098 PMID:9590285 PMID:9888995 PMID:10364516 PMID:10583221 PMID:10591218 PMID:10700698 PMID:11054058 PMID:11379875 PMID:11491307 PMID:11522545 PMID:11641517 PMID:12137939 PMID:14648217 PMID:15304085 PMID:15842668 PMID:16332973 PMID:16690864 PMID:17576681 PMID:17785587 PMID:18177777 PMID:18212040 PMID:19003239 PMID:19391112 PMID:19633571 PMID:19734544 PMID:19835419 PMID:19879169 PMID:20008900 PMID:20091372 PMID:20301779 PMID:21601430 PMID:21602826 PMID:21736606 PMID:21931702 PMID:22058290 PMID:22117216 PMID:22299032 PMID:22664374 PMID:23279657 PMID:23660516 PMID:23707062 PMID:24033266 PMID:24115260 PMID:24914498 PMID:25326635 PMID:25455995 PMID:25741868 PMID:25992652 PMID:26571381 PMID:27418648 PMID:27622320 PMID:28492532 PMID:28930861 PMID:29625052 PMID:29921932 PMID:30202881 PMID:31027506 PMID:31268371 PMID:31474318 PMID:32126783 PMID:33718801 PMID:9590285 PMID:10583221 PMID:23946118 PMID:12522253 PMID:10364516 More...
RGD:734888 , RGD:11251734 , RGD:11251732 , RGD:11251731 , RGD:10755414
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Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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Dnase1l1
deoxyribonuclease 1-like 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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Dusp9
dual specificity phosphatase 9
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
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Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
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Eif4a1
eukaryotic translation initiation factor 4A1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858
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Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
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Emd
emerin
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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Enosf1
enolase superfamily member 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:25741868 PMID:35931051
NCBI chr 9:113,275,267...113,314,842
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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F8a1
coagulation factor VIII-associated 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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Fam3a
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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Fam50a
family with sequence similarity 50, member A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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Fbxo39
F-box protein 39
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
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Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Fundc2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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Fxr2
FMR1 autosomal homolog 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
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Gar1
GAR1 ribonucleoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22299032
NCBI chr 2:218,375,231...218,382,509
Ensembl chr 2:218,375,353...218,382,524
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Gdi1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
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Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
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Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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H2ab3
H2A.B variant histone 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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Haus7
HAUS augmin-like complex, subunit 7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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Idh3g
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
G
Kcnab3
potassium voltage-gated channel subfamily A regulatory beta subunit 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
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Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
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Kdm6b
lysine demethylase 6B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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L1cam
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mir195
microRNA 195
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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Mpdu1
mannose-P-dolichol utilization defect 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
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Mpp1
MAGUK p55 scaffold protein 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
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Mtcp1
mature T-cell proliferation 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr18:126,189...130,123
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N4bp3
Nedd4 binding protein 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:35,898,031...35,906,704
Ensembl chr10:35,899,096...35,907,001
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Naa38
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
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Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
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Nhp2
NHP2 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18523010 PMID:25741868 PMID:28492532 PMID:31681265 PMID:31985013 PMID:36031433 PMID:36933847 More...
NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545
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Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434
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Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Npm1
nucleophosmin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31570891
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Nsdhl
NAD(P) dependent steroid dehydrogenase-like
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Odf4
outer dense fiber of sperm tails 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359
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Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Parn
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:25893599
NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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Pdzd4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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Per1
period circadian regulator 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29481669 More...
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
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Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
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Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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Plxnb3
plexin B3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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Pnck
pregnancy up-regulated nonubiquitous CaM kinase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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Pnma3
PNMA family member 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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Pnma5
PNMA family member 5
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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Pnma6e
PNMA family member 6E
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:25741868 PMID:28492532 PMID:30523342
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Prop1
PROP paired-like homeobox 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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Rangrf
RAN guanine nucleotide release factor
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
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Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Rmnd5b
required for meiotic nuclear division 5 homolog B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18523010 PMID:25741868 PMID:28492532
NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
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Rnasek
ribonuclease K
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601
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Rnf227
ring finger protein 227
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,061,054...54,063,015
Ensembl chr10:54,059,947...54,063,010
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Rpl10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Rpl26
ribosomal protein L26
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23329068 PMID:23453664 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25326637 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26808564 PMID:27128385 PMID:27415407 PMID:27418648 PMID:27824607 PMID:28099038 PMID:28104920 PMID:28492532 PMID:28495916 PMID:28507545 PMID:28930861 PMID:28979815 PMID:29146883 PMID:29296694 PMID:29344583 PMID:29361909 PMID:29891356 PMID:29981437 PMID:30303537 PMID:30462709 PMID:30523160 PMID:30523342 PMID:30995915 PMID:31268371 PMID:31785789 PMID:33718801 PMID:34021146 PMID:34298581 PMID:36622818 PMID:36655009 PMID:37392813 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Sat2
spermidine/spermine N1-acetyltransferase family member 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
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Scarna21
small Cajal body-specific RNA 21
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098
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Senp3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
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Shbg
sex hormone binding globulin
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
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Slc10a3
solute carrier family 10, member 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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Slc16a11
solute carrier family 16, member 11
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
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Slc16a13
solute carrier family 16, member 13
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
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Slc25a35
solute carrier family 25, member 35
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160
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Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Slc35g3
solute carrier family 35, member G3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
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Slc6a8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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Snord118
small nucleolar RNA, C/D box 118
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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Sox15
SRY-box transcription factor 15
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591
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Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
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Spem2
SPEM family member 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
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Srpk3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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Ssr4
signal sequence receptor subunit 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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Tekt1
tektin 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
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Terc
telomerase RNA component
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyskeratosis congenita
CTD ClinVar
PMID:10721988 PMID:17785587 PMID:21844345 PMID:28492532
NCBI chr 2:112,815,654...112,816,041
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyskeratosis congenita
CTD ClinVar
PMID:9536098 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 PMID:16627250 PMID:17460043 PMID:17576681 PMID:17785587 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20871597 PMID:20966039 PMID:21258621 PMID:21520173 PMID:21520174 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22037553 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22853774 PMID:23066086 PMID:23348503 PMID:23535731 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25365545 PMID:25393420 PMID:25562321 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26194807 PMID:26433962 PMID:26580448 PMID:26859482 PMID:27159321 PMID:27354474 PMID:27418648 PMID:27540018 PMID:27848944 PMID:28099038 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28495683 PMID:28818973 PMID:28873162 PMID:29146883 PMID:29483670 PMID:29625052 PMID:30203795 PMID:30523342 PMID:30603600 PMID:30791107 PMID:30995915 PMID:31119896 PMID:31395865 PMID:33035329 PMID:33718801 PMID:34019641 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2
TERF1 interacting nuclear factor 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyskeratosis congenita
CTD ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:19327580 PMID:20301779 PMID:20979174 PMID:21199492 PMID:21477109 PMID:21536674 PMID:22080964 PMID:22211879 PMID:22339828 PMID:22341970 PMID:23094712 PMID:25741868 PMID:26083318 PMID:26193622 PMID:26808569 PMID:26859482 PMID:27824607 PMID:28102861 PMID:28104920 PMID:28492532 PMID:28866069 PMID:29146883 PMID:29483670 PMID:29581185 PMID:29742735 PMID:30604317 PMID:32499645 PMID:33258446 More...
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
G
Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
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Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
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Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
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Tnfsf12
TNF superfamily member 12
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
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Tnfsf13
TNF superfamily member 13
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnk1
tyrosine kinase, non-receptor, 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
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Tp53
tumor protein p53
ISS ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
MouseDO ClinVar
PMID:17683073 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trappc1
trafficking protein particle complex subunit 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
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Trex2
three prime repair exonuclease 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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Tyms
thymidylate synthetase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:25741868 PMID:35931051
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Ubl4a
ubiquitin-like 4A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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Vamp2
vesicle-associated membrane protein 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
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Vbp1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
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Wrap53
WD repeat containing, antisense to TP53
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:17683073 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:24033266 PMID:25741868 PMID:26822237 PMID:28125078 PMID:28492532 More...
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Xaf1
XIAP associated factor 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
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Ybx2
Y box binding protein 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
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Zbtb4
zinc finger and BTB domain containing 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:28492532
NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
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Zcchc8
zinc finger CCHC-type containing 8
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:25741868
NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325
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Zfp185
zinc finger protein 185
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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Zfp92
ZFP92 zinc finger protein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita
ClinVar
PMID:18177777 PMID:28492532
NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Terc
telomerase RNA component
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant
CTD ClinVar
PMID:10721988 PMID:15082312 PMID:21844345 PMID:21931702 PMID:24763404 PMID:25741868 PMID:26024875 PMID:28492532 More...
NCBI chr 2:112,815,654...112,816,041
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant
CTD ClinVar
PMID:20301779 PMID:21436073 PMID:24833766 PMID:25741868 PMID:26136524 PMID:28492532 PMID:29036293 PMID:29483670 PMID:35776903 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tinf2
TERF1 interacting nuclear factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Actrt3
actin-related protein T3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,799,038...112,801,065
Ensembl chr 2:112,799,011...112,801,075
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Gpr160
G protein-coupled receptor 160
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,483,364...112,563,072
Ensembl chr 2:112,484,935...112,563,148
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Inpp4a
inositol polyphosphate-4-phosphatase type I A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:15849264 PMID:21931702 PMID:25741868
NCBI chr 9:39,528,245...39,650,574
Ensembl chr 9:39,528,674...39,646,581
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Lrrc31
leucine rich repeat containing 31
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,702,844...112,725,431
Ensembl chr 2:112,700,136...112,724,322
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Lrrc34
leucine rich repeat containing 34
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
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Lrriq4
leucine-rich repeats and IQ motif containing 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:112,729,417...112,753,234
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:25741868 PMID:27192671
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mynn
myoneurin
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
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Phc3
polyhomeotic homolog 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,408,709...112,483,719
Ensembl chr 2:112,408,531...112,476,540
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Prkci
protein kinase C, iota
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
G
Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29344583 PMID:30523342 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Samd7
sterile alpha motif domain containing 7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,623,135...112,644,269
Ensembl chr 2:112,624,942...112,639,549
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Sec62
SEC62 homolog, preprotein translocation factor
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,570,810...112,598,198
Ensembl chr 2:112,570,819...112,601,814
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Skil
SKI-like proto-oncogene
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:28492532
NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
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Terc
telomerase RNA component
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | 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:16990594 PMID:17460043 PMID:17640862 PMID:18710936 PMID:18931339 PMID:19095616 PMID:19835419 PMID:20022961 PMID:20193600 PMID:21436073 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:24833766 PMID:25612863 PMID:25741868 PMID:26024875 PMID:26136524 PMID:26503788 PMID:27192671 PMID:27622320 PMID:28104920 PMID:28492532 PMID:29146883 PMID:29463756 PMID:30426156 PMID:30523342 PMID:32875693 PMID:34565437 More...
NCBI chr 2:112,815,654...112,816,041
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:12167716 PMID:15885610 PMID:16247010 PMID:18042801 PMID:18635888 PMID:18931339 PMID:20301779 PMID:21436073 PMID:21602826 PMID:23901009 PMID:24033266 PMID:24833766 PMID:25365545 PMID:25741868 PMID:26136524 PMID:26360549 PMID:27418648 PMID:28154186 PMID:28492532 PMID:29036293 PMID:29483670 PMID:30523342 PMID:35776903 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
ClinVar
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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:20301779 PMID:21199492 PMID:21477109 PMID:21536674 PMID:22211879 PMID:23094712 PMID:25741868 PMID:26083318 PMID:26859482 PMID:28492532 PMID:29742735 More...
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Brd9
bromodomain containing 9
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016
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Cep72
centrosomal protein 72
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271
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Clptm1l
CLPTM1-like
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Irx4
iroquois homeobox 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
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Lpcat1
lysophosphatidylcholine acyltransferase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401
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Mrpl36
mitochondrial ribosomal protein L36
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807
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Ndufs6
NADH:ubiquinone oxidoreductase subunit S6
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,968,833...29,977,423
Ensembl chr 1:29,968,842...29,977,467
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Nkd2
NKD inhibitor of WNT signaling pathway 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821
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Slc12a7
solute carrier family 12 member 7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302
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Slc6a18
solute carrier family 6 member 18
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
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Slc6a19
solute carrier family 6 member 19
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
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Slc6a3
solute carrier family 6 member 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
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Slc9a3
solute carrier family 9 member A3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12167716 PMID:12629597 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 PMID:16627250 PMID:17264120 PMID:17392301 PMID:17460043 PMID:17576681 PMID:17785587 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20871597 PMID:20966039 PMID:21258621 PMID:21349926 PMID:21436073 PMID:21483807 PMID:21520173 PMID:21520174 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22037553 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22664374 PMID:22853774 PMID:22863003 PMID:23000435 PMID:23066086 PMID:23258901 PMID:23279657 PMID:23335200 PMID:23348503 PMID:23535731 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25244922 PMID:25271372 PMID:25365545 PMID:25393420 PMID:25562321 PMID:25612863 PMID:25640679 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26194807 PMID:26329388 PMID:26360549 PMID:26365799 PMID:26433962 PMID:26580448 PMID:26859482 PMID:26887940 PMID:27159321 PMID:27192671 PMID:27354474 PMID:27418648 PMID:27540018 PMID:27622320 PMID:27824607 PMID:27836952 PMID:27848944 PMID:28099038 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28192371 PMID:28492532 PMID:28495683 PMID:28677271 PMID:28767289 PMID:28813500 PMID:28818973 PMID:28873162 PMID:29036293 PMID:29146883 PMID:29382801 PMID:29463756 PMID:29483670 PMID:29625052 PMID:29749397 PMID:30203795 PMID:30426156 PMID:30523342 PMID:30603600 PMID:30791107 PMID:30995915 PMID:31119896 PMID:31268371 PMID:31395865 PMID:32076714 PMID:32150348 PMID:32315675 PMID:33035329 PMID:33709208 PMID:33718801 PMID:34019641 PMID:34565437 PMID:34890115 PMID:35171259 PMID:35776903 PMID:37359275 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tppp
tubulin polymerization promoting protein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134
G
Trip13
thyroid hormone receptor interactor 13
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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Zdhhc11
zinc finger, DHHC-type containing 11
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2
ClinVar
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3
ClinVar
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
G
Tinf2
TERF1 interacting nuclear factor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:19327580 PMID:20301779 PMID:20979174 PMID:21199492 PMID:21477109 PMID:21536674 PMID:22080964 PMID:22211879 PMID:22339828 PMID:22341970 PMID:23094712 PMID:25741868 PMID:26193622 PMID:26808569 PMID:26859482 PMID:27824607 PMID:28102861 PMID:28104920 PMID:28492532 PMID:28866069 PMID:29146883 PMID:29483670 PMID:29581185 PMID:29742735 PMID:30604317 More...
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4
ClinVar
PMID:23329068 PMID:23453664 PMID:23959892 PMID:25326637 PMID:25607374 PMID:25741868 PMID:27128385 PMID:28099038 PMID:28104920 PMID:28492532 PMID:28495916 PMID:28930861 PMID:29146883 PMID:29344583 PMID:30523160 PMID:31785789 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Aars1
alanyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25205116 PMID:25233904 PMID:25505254 PMID:25741868 PMID:27807141 PMID:28492532 PMID:29843741 PMID:29891727 PMID:30064976 PMID:31515401 PMID:32191290 PMID:32325837 PMID:33822766 PMID:34598035 More...
NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
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Agrp
agouti related neuropeptide
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,447,992...33,481,602
Ensembl chr19:33,447,992...33,449,584
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Ap1g1
adaptor related protein complex 1 subunit gamma 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,744,633...37,831,134
Ensembl chr19:37,744,633...37,829,167
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Atp6v0d1
ATPase H+ transporting V0 subunit D1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450
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Atxn1l
ataxin 1 like
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,700,341...37,711,529
Ensembl chr19:37,700,106...37,711,538
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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 chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344
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Bean1
brain expressed, associated with NEDD4, 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:739,551...786,395
Ensembl chr19:739,551...787,537
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C19h16orf86
similar to human chromosome 16 open reading frame 86
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521
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Calb2
calbindin 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
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Car7
carbonic anhydrase 7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467
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Carmil2
capping protein regulator and myosin 1 linker 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
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Cbfb
core-binding factor subunit beta
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdh16
cadherin 16
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007
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Cdh3
cadherin 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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Cdh5
cadherin 5
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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Cenpt
centromere protein T
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
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Ces2h
carboxylesterase 2H
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830
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Ces3a
carboxylesterase 3a
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:32,992,386...33,000,562
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Ces4a
carboxylesterase 4A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545
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Chst4
carbohydrate sulfotransferase 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,993,471...38,002,123
Ensembl chr19:37,991,417...38,003,608
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Chtf8
chromosome transmission fidelity factor 8
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,782,005...34,792,306
Ensembl chr19:34,781,856...34,792,578
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Ciao2b
cytosolic iron-sulfur assembly component 2B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068
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Cklf
chemokine-like factor
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570
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Clec18a
C-type lectin domain family 18, member A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:39,038,498...39,053,425
Ensembl chr19:39,038,273...39,056,017
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Cmtm1
CKLF-like MARVEL transmembrane domain containing 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184
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Cmtm2b
CKLF-like MARVEL transmembrane domain containing 2B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939
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Cmtm3
CKLF-like MARVEL transmembrane domain containing 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790
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Cmtm4
CKLF-like MARVEL transmembrane domain containing 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109
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Cmtr2
cap methyltransferase 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
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Cog4
component of oligomeric golgi complex 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
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Cog8
component of oligomeric golgi complex 8
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
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Ctcf
CCCTC-binding factor
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Ctrl
chymotrypsin-like
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626
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Cyb5b
cytochrome b5 type B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249
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Ddx19a
DEAD-box helicase 19A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854
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Ddx19b
DEAD-box helicase 19B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259
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Ddx28
DEAD-box helicase 28
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742
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Dhodh
dihydroorotate dehydrogenase (quinone)
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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Dhx38
DEAH-box helicase 38
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,512,893...37,530,135
Ensembl chr19:37,512,891...37,530,140
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Dpep2
dipeptidase 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954
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Dpep3
dipeptidase 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896
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Dus2
dihydrouridine synthase 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,906,517...33,954,922
Ensembl chr19:33,911,750...33,954,709
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Dync1li2
dynein, cytoplasmic 1 light intermediate chain 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670
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E2f4
E2F transcription factor 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806
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Edc4
enhancer of mRNA decapping 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,774,062...33,786,054
Ensembl chr19:33,774,055...33,787,758
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Elmo3
engulfment and cell motility 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410
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Enkd1
enkurin domain containing 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545
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Esrp2
epithelial splicing regulatory protein 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
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Exoc3l1
exocyst complex component 3-like 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486
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Exosc6
exosome component 6
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:39,022,171...39,023,585
Ensembl chr19:39,022,183...39,023,515
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Fbxl8
F-box and leucine-rich repeat protein 8
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,142,705...33,147,266
Ensembl chr19:33,142,715...33,147,262
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Fcsk
fucose kinase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
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Fhod1
formin homology 2 domain containing 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,206,492...33,225,448
Ensembl chr19:33,206,492...33,225,356
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Gfod2
Gfo/Idh/MocA-like oxidoreductase domain containing 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004
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Has3
hyaluronan synthase 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
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Hp
haptoglobin
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Hsf4
heat shock transcription factor 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
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Hydin
Hydin, axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
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Il34
interleukin 34
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
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Ist1
IST1 factor associated with ESCRT-III
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,648,840...37,671,019
Ensembl chr19:37,648,095...37,670,956
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Kctd19
potassium channel tetramerization domain containing 19
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006
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Lcat
lecithin cholesterol acyltransferase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
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Lrrc29
leucine rich repeat containing 29
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545
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Lrrc36
leucine rich repeat containing 36
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,292,074...33,342,426
Ensembl chr19:33,292,074...33,360,141
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Marveld3
MARVEL domain containing 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,908,727...37,923,420
Ensembl chr19:37,905,638...37,923,420
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Matcap1
microtubule associated tyrosine carboxypeptidase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,158,053...33,166,784
Ensembl chr19:33,158,056...33,166,445
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Mir140
microRNA 140
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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Mir328
microRNA 328
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849
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Mtss2
MTSS I-BAR domain containing 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
G
Nae1
NEDD8 activating enzyme E1 subunit 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
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Nfat5
nuclear factor of activated T-cells 5
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:35,199,737...35,286,675
Ensembl chr19:35,199,016...35,286,675
G
Nfatc3
nuclear factor of activated T-cells 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150
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Nip7
nucleolar pre-rRNA processing protein NIP7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,962,557...34,964,700
Ensembl chr19:34,962,557...34,964,711
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Nob1
NIN1 (RPN12) binding protein 1 homolog
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815
G
Nol3
nucleolar protein 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
G
Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nrn1l
neuritin 1-like
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,786,419...33,787,879
G
Nutf2
nuclear transport factor 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591
G
Pard6a
par-6 family cell polarity regulator alpha
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,589,531...33,591,900
Ensembl chr19:33,589,542...33,591,900
G
Pdf
peptide deformylase (mitochondrial)
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
G
Pdp2
pyruvate dehydrogenase phosphatase catalytic subunit 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074
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Pdpr
pyruvate dehydrogenase phosphatase regulatory subunit
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
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Phaf1
phagosome assembly factor 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914
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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 chr19:37,835,125...37,901,804
Ensembl chr19:37,835,125...37,905,513
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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 chr19:37,585,564...37,650,083
Ensembl chr19:37,585,725...37,650,155
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Pla2g15
phospholipase A2, group XV
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063
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Plekhg4
pleckstrin homology and RhoGEF domain containing G4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357
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Prmt7
protein arginine methyltransferase 7
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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Pskh1
protein serine kinase H1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,794,919...33,827,040
Ensembl chr19:33,794,935...33,827,032
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Psmb10
proteasome 20S subunit beta 10
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
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Ranbp10
RAN binding protein 10
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
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Ripor1
RHO family interacting cell polarization regulator 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,477,750...33,506,424
Ensembl chr19:33,477,793...33,506,420
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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 chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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Sf3b3
splicing factor 3b, subunit 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245
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Slc12a4
solute carrier family 12 member 4
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331
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Slc7a6
solute carrier family 7 member 6
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268
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Slc7a6os
solute carrier family 7, member 6 opposite strand
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651
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Slc9a5
solute carrier family 9 member A5
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903
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Smpd3
sphingomyelin phosphodiesterase 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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Sntb2
syntrophin, beta 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,831,657...34,922,325
Ensembl chr19:34,831,584...34,914,113
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St3gal2
ST3 beta-galactoside alpha-2,3-sialyltransferase 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869
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Tango6
transport and golgi organization 6 homolog
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639
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Tat
tyrosine aminotransferase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,947,153...37,957,717
Ensembl chr19:37,947,112...37,958,031
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Terb1
telomere repeat binding bouquet formation protein 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
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Terf2
telomeric repeat binding factor 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
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Thap11
THAP domain containing 11
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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Tk2
thymidine kinase 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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Tmed6
transmembrane p24 trafficking protein 6
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,966,813...34,972,900
Ensembl chr19:34,966,813...34,972,900
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Tmem208
transmembrane protein 208
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,203,587...33,206,287
Ensembl chr19:33,203,587...33,212,183
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Tppp3
tubulin polymerization-promoting protein family member 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,345,897...33,349,610
Ensembl chr19:33,345,898...33,349,577
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Tradd
TNFRSF1A-associated via death domain
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
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Tsnaxip1
translin-associated factor X interacting protein 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,716,834...33,734,824
Ensembl chr19:33,716,785...33,734,824
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Txnl4b
thioredoxin-like 4B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,530,157...37,539,827
Ensembl chr19:37,530,152...37,538,521
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Utp4
UTP4 small subunit processome component
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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Vac14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
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Vps4a
vacuolar protein sorting 4 homolog A
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,934,999...34,948,888
Ensembl chr19:34,934,961...34,948,887
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Wwp2
WW domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
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Zdhhc1
zinc finger, DHHC-type containing 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:33,350,533...33,375,717
Ensembl chr19:33,350,533...33,375,616
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Zfp612
zinc finger protein 612
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:38,053,953...38,071,196
Ensembl chr19:38,053,967...38,067,455
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Zfp821
zinc finger protein 821
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:37,679,937...37,698,831
Ensembl chr19:37,680,628...37,698,831
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Zfp90
zinc finger protein 90
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,321,980...34,333,195
Ensembl chr19:34,321,940...34,333,194
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar
PMID:25741868
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Dclre1b
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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Nhp2
NHP2 ribonucleoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545
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Nop10
NOP10 ribonucleoprotein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
CTD ClinVar
PMID:25741868
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar
PMID:25741868
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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Slc12a6
solute carrier family 12, member 6
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar
NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Wrap53
WD repeat containing, antisense to TP53
ISO
DNA:mutations:exons: ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar RGD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:21205863
RGD:21081678
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Nhp2
NHP2 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1
ClinVar
PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31681265
NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545
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Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1
OMIM ClinVar
PMID:17507419 PMID:20301779 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Rmnd5b
required for meiotic nuclear division 5 homolog B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1
ClinVar
PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532
NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
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Slc12a6
solute carrier family 12, member 6
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1
ClinVar
NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1
ClinVar
PMID:17785587 PMID:20301779 PMID:25741868 PMID:26887940 PMID:28192371 PMID:28492532 PMID:30603600 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Nhp2
NHP2 ribonucleoprotein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2
OMIM CTD ClinVar
PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532
NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545
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Rmnd5b
required for meiotic nuclear division 5 homolog B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2
ClinVar
PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532
NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition
ClinVar
PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Wrap53
WD repeat containing, antisense to TP53
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17683073 PMID:20301779 PMID:21205863 PMID:24033266 PMID:25741868 PMID:26822237 PMID:28125078 PMID:28492532 PMID:30552426 PMID:32303682 PMID:34573280 PMID:37149759 More...
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4
ClinVar
PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:20301779 PMID:20502709 PMID:21258621 PMID:21602826 PMID:23901009 PMID:23905534 PMID:24033266 PMID:25365545 PMID:25741868 PMID:26887940 PMID:27418648 PMID:28192371 PMID:28492532 PMID:30523342 PMID:30603600 PMID:34890115 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Arfrp1
ADP-ribosylation factor related protein 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914
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Chrna4
cholinergic receptor nicotinic alpha 4 subunit
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532
NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Eef1a2
eukaryotic translation elongation factor 1 alpha 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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Fndc11
fibronectin type III domain containing 11
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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Gmeb2
glucocorticoid modulatory element binding protein 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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Helz2
helicase with zinc finger 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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Ptk6
protein tyrosine kinase 6
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19822871 PMID:23329068 PMID:23453664 PMID:23591994 PMID:23692823 PMID:23729807 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25182133 PMID:25326637 PMID:25607374 PMID:25620558 PMID:25640679 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26808564 PMID:26847928 PMID:27128385 PMID:27415407 PMID:27418648 PMID:27540018 PMID:27577878 PMID:27779742 PMID:27824607 PMID:28099038 PMID:28104920 PMID:28192371 PMID:28492532 PMID:28495692 PMID:28495916 PMID:28507545 PMID:28930861 PMID:28979815 PMID:29146883 PMID:29296694 PMID:29344583 PMID:29361909 PMID:29891356 PMID:29981437 PMID:30088779 PMID:30303537 PMID:30462709 PMID:30523160 PMID:30523342 PMID:30995915 PMID:31268371 PMID:31677132 PMID:31785789 PMID:32662942 PMID:33718801 PMID:34021146 PMID:34298581 PMID:35419889 PMID:36622818 PMID:36655009 PMID:37392813 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Srms
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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Stmn3
stathmin 3
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
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Parn
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:22834816 PMID:25640679 PMID:25741868 PMID:25848748 PMID:25893599 PMID:26342108 PMID:26482878 PMID:26810774 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:30523342 PMID:30525901 PMID:31268371 PMID:31448843 PMID:34298581 PMID:35982159 More...
NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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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:25741868 PMID:27807141 PMID:28492532 PMID:31515401 PMID:33822766 More...
NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
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Dclre1b
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 8
OMIM ClinVar
PMID:28492532 PMID:35007328
NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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Enosf1
enolase superfamily member 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, digenic
ClinVar
PMID:25741868 PMID:35931051
NCBI chr 9:113,275,267...113,314,842
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Tyms
thymidylate synthetase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, digenic
OMIM ClinVar
PMID:25741868 PMID:35931051
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Dclre1b
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328
NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31027506 More...
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Rtel1
regulator of telomere elongation helicase 1
ISO
DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human)
RGD
PMID:23959892
RGD:152977765
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
CTD ClinVar
PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Revesz syndrome
ClinVar
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Revesz syndrome | ClinVar Annotator: match by term: TINF2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:19327580 PMID:20301779 PMID:20979174 PMID:21199492 PMID:21477109 PMID:21536674 PMID:22080964 PMID:22211879 PMID:22339828 PMID:22341970 PMID:23094712 PMID:25741868 PMID:26193622 PMID:26808569 PMID:26859482 PMID:27824607 PMID:28102861 PMID:28104920 PMID:28492532 PMID:28866069 PMID:29146883 PMID:29483670 PMID:29581185 PMID:29742735 PMID:30604317 More...
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: DKC1-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked
OMIM ClinVar
PMID:768476 PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 PMID:9590285 PMID:9888995 PMID:10364516 PMID:10438713 PMID:10583221 PMID:10591218 PMID:10700698 PMID:11054058 PMID:11379875 PMID:11491307 PMID:11522545 PMID:11641517 PMID:12137939 PMID:12437656 PMID:14648217 PMID:15304085 PMID:15842668 PMID:16332973 PMID:16690864 PMID:18212040 PMID:18627054 PMID:19003239 PMID:19391112 PMID:19633571 PMID:19734544 PMID:19835419 PMID:19879169 PMID:20008900 PMID:20091372 PMID:20301779 PMID:21601430 PMID:21602826 PMID:21931702 PMID:22058290 PMID:22117216 PMID:22664374 PMID:23279657 PMID:23660516 PMID:23707062 PMID:23946118 PMID:24033266 PMID:24115260 PMID:24914498 PMID:25326635 PMID:25741868 PMID:25992652 PMID:26571381 PMID:27418648 PMID:27622320 PMID:28492532 PMID:28930861 PMID:29483670 PMID:29625052 PMID:29921932 PMID:30202881 PMID:31027506 PMID:31268371 PMID:31474318 PMID:32126783 PMID:33718801 More...
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked | ClinVar Annotator: match by term: Zinsser-Cole-Engman Syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:23959892 PMID:25741868 PMID:26847928 PMID:28492532 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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