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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Aldoa
aldolase, fructose-bisphosphate A
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
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Aldoart2
aldolase 1 A retrogene 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
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Asphd1
aspartate beta-hydroxylase domain containing 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,379,060...198,382,982
Ensembl chr 1:198,379,022...198,382,614
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Atp2a1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,855,912...197,875,038
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Atxn2l
ataxin 2-like
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
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Bola2
bolA family member 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,120,104...198,121,158
Ensembl chr 1:198,120,099...198,121,158
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Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
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Cdipt
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,409,186...198,413,497
Ensembl chr 1:198,409,360...198,413,497
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Coro1a
coronin 1A
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
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Doc2a
double C2 domain alpha
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,282,828...198,288,611
Ensembl chr 1:198,284,473...198,288,113
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Gdpd3
glycerophosphodiester phosphodiesterase domain containing 3
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
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Hirip3
HIRA interacting protein 3
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,298,138...198,301,164
Ensembl chr 1:198,298,138...198,301,161
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Ino80e
INO80 complex subunit E
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,287,489...198,298,076
Ensembl chr 1:198,287,490...198,298,076
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Kctd13
potassium channel tetramerization domain containing 13
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,360,627...198,378,935
Ensembl chr 1:198,360,627...198,378,934
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Kif22
kinesin family member 22
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
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Lat
linker for activation of T cells
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
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LOC308990
hypothetical protein LOC308990
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,528,569...198,531,585
Ensembl chr 1:198,528,635...198,531,201
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Mapk3
mitogen activated protein kinase 3
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
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Maz
MYC associated zinc finger protein
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
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Mvp
major vault protein
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
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Nfatc2ip
nuclear factor of activated T-cells 2 interacting protein
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,785,966...197,800,943
Ensembl chr 1:197,785,968...197,801,634
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Pagr1
Paxip1-associated glutamate-rich protein 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,448,790...198,451,078
Ensembl chr 1:198,449,040...198,450,688
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Ppp4c
protein phosphatase 4, catalytic subunit
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
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Prrt2
proline-rich transmembrane protein 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
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Qprt
quinolinate phosphoribosyltransferase
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,544,262...198,559,556
Ensembl chr 1:198,544,262...198,559,568
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Rabep2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
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RGD1563217
similar to RIKEN cDNA 4930451I11
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,260,711...198,268,056
Ensembl chr 1:198,266,108...198,267,093
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Sez6l2
seizure related 6 homolog like 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,383,201...198,403,544
Ensembl chr 1:198,383,201...198,403,544
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Sh2b1
SH2B adaptor protein 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
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Slx1b
SLX1 homolog B, structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,114,514...198,120,061
Ensembl chr 1:198,112,245...198,120,061
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Spn
sialophorin
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
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Spns1
sphingolipid transporter 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,771,196...197,778,506
Ensembl chr 1:197,771,108...197,778,490
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Taok2
TAO kinase 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,301,789...198,354,601
Ensembl chr 1:198,301,938...198,320,075
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Tbx6
T-box transcription factor 6
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
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Tlcd3b
TLC domain containing 3B
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,252,208...198,265,840
Ensembl chr 1:198,259,496...198,265,839
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Tmem219
transmembrane protein 219
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,322,276...198,360,552
Ensembl chr 1:198,324,857...198,354,466
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Tufm
Tu translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
PMID:25741868 PMID:32238909
NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
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Ypel3
yippee-like 3
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
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Zg16
zymogen granule protein 16
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:198,483,800...198,486,157
Ensembl chr 1:198,483,805...198,486,157
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