RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: autosomal dominant dyskeratosis congenita 6
Accession: DOID:0070023
browse the term
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. (DO)
Synonyms: exact_synonym: DKCA6
broad_synonym: ACD-RELATED CONDITION
related_synonym: DKCB7; DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
primary_id: OMIM:616553
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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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACD-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7
OMIM CTD ClinVar
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
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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
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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
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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
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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
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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
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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
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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
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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
G
Pkd1l3
polycystin 1 like 3, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI 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
G
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
G
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
G
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
G
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
G
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
G
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
G
Slc7a6os
solute carrier family 7, member 6 opposite strand
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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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