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.
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar
NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
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Nhp2
NHP2 ribonucleoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
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Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739
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Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar
NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
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Slc12a6
solute carrier family 12, member 6
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar
NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Wrap53
WD repeat containing, antisense to TP53
ISO
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive DNA:mutations:exons:
ClinVar
PMID:25741868 PMID:28492532 , PMID:21205863
RGD:21081678
NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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Nhp2
NHP2 ribonucleoprotein
ISO ISS
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 OMIM:224230
ClinVar MouseDO
PMID:18523010
NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
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Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1
ClinVar OMIM
PMID:17507419 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739
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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
NCBI chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943
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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 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1
ClinVar
PMID:17785587 PMID:26887940 PMID:28192371 PMID:28492532
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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Nhp2
NHP2 ribonucleoprotein
ISO
ClinVar Annotator: match by OMIM:613987 ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2
ClinVar OMIM
PMID:18523010
NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082
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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
NCBI chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3
ClinVar
PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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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 OMIM:613988
OMIM ClinVar
PMID:17683073 PMID:21205863 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 4
ClinVar
PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:21258621 PMID:21602826 PMID:23901009 PMID:24033266 PMID:25365545 PMID:25741868 PMID:26887940 PMID:27418648 PMID:28192371 PMID:28492532
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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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 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5 ClinVar Annotator: match by OMIM:615190
OMIM ClinVar
PMID:19461895 PMID:23329068 PMID:23453664 PMID:23591994 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25182133 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26808564 PMID:27128385 PMID:27415407 PMID:27418648 PMID:27540018 PMID:27824607 PMID:28099038 PMID:28188499 PMID:28192371 PMID:28492532 PMID:28507545 PMID:28930861 PMID:29344583 PMID:29361909 PMID:30523160
NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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Parn
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 6 ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 ClinVar Annotator: match by OMIM:616353
ClinVar OMIM
PMID:9736620 PMID:25741868 PMID:25848748 PMID:25893599 PMID:26342108 PMID:26482878 PMID:26810774 PMID:28099038 PMID:28414520 PMID:28492532 PMID:31448843
NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
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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 Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7
ClinVar
PMID:25205116 PMID:25233904 PMID:28492532
NCBI chr19:37,665,289...37,668,043
Ensembl chr19:37,665,296...37,667,987
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