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 Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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Aldoart2
aldolase 1 A retrogene 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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Asphd1
aspartate beta-hydroxylase domain containing 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
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Atp2a1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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Atxn2l
ataxin 2-like
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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Bola2
bolA family member 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome
ClinVar
NCBI chr 1:181,291,777...181,292,836
Ensembl chr 1:181,291,398...181,292,676
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Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cdipt
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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Coro1a
coronin 1A
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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Doc2a
double C2 domain alpha
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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Eif3c
eukaryotic translation initiation factor 3, subunit C
ISO
ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493
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Gdpd3
glycerophosphodiester phosphodiesterase domain containing 3
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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Hirip3
HIRA interacting protein 3
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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Ino80e
INO80 complex subunit E
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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Kctd13
potassium channel tetramerization domain containing 13
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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Kif22
kinesin family member 22
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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Lat
linker for activation of T cells
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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LOC308990
hypothetical protein LOC308990
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
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Mapk3
mitogen activated protein kinase 3
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Maz
MYC associated zinc finger protein
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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Mvp
major vault protein
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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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 Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747
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Pagr1
Paxip1-associated glutamate-rich protein 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,622,708...181,624,996
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Ppp4c
protein phosphatase 4, catalytic subunit
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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Prrt2
proline-rich transmembrane protein 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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Qprt
quinolinate phosphoribosyltransferase
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
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Rabep2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
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RGD1563217
similar to RIKEN cDNA 4930451I11
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,434,524...181,441,000
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Sez6l2
seizure related 6 homolog like 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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Sh2b1
SH2B adaptor protein 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
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Slx1b
SLX1 homolog B, structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775
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Spn
sialophorin
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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Spns1
sphingolipid transporter 1
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
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Taok2
TAO kinase 2
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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Tbx6
T-box transcription factor 6
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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Tlcd3b
TLC domain containing 3B
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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Tmem219
transmembrane protein 219
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
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Tufm
Tu translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:25741868 PMID:31690835 PMID:32238909
NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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Ypel3
yippee-like 3
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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Zg16
zymogen granule protein 16
ISO
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
ClinVar
PMID:31690835
NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079
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