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: Asphyxia
Accession: DOID:9001041
browse the term
Definition: A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life.
Synonyms: exact_synonym: Asphyxias; Suffocation; Suffocations
primary_id: MESH:D001237 ; RDO:0004927
For additional species annotation, visit the
Alliance of Genome Resources .
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
mRNA, protein:increased expression:myocardium, lung (rat)
RGD
PMID:17285858
RGD:9068458
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Ift80
intraflagellar transport 80
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17468754
NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:18620825
RGD:4890002
NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
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Sox4
SRY-box transcription factor 4
IDA
RGD
PMID:12011571
RGD:1581119
NCBI chr17:37,615,022...37,619,728
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
IEP
mRNA:increased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
IEP
mRNA:decreased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:21058530
RGD:12792218
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Htra2
HtrA serine peptidase 2
treatment
IEP
protein:increased expression:kidney:
RGD
PMID:20704803
RGD:10402931
NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
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Map2
microtubule-associated protein 2
IEP
RGD
PMID:21858873
RGD:6483085
NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
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Pdia3
protein disulfide isomerase family A, member 3
IEP
protein:increased expression:hippocampus:
RGD
PMID:15453273
RGD:9999183
NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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Psen2
presenilin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:urine
RGD
PMID:14707571
RGD:5508819
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Xrcc1
X-ray repair cross complementing 1
IEP
mRNA:increased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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Gstt1
glutathione S-transferase theta 1
severity
ISO
DNA:deletion:: (human)
RGD
PMID:21058530
RGD:12792218
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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