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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Ada
adenosine deaminase
ISO
protein:decreased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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Cat
catalase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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Cdc73
cell division cycle 73
disease_progression
ISO
protein:decreased expression:larynx (human)
RGD
PMID:27334641
RGD:150539447
NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
RGD
PMID:15646812
RGD:8662837
NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
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Chd4
chromodomain helicase DNA binding protein 4
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33315534
RGD:153323310
NCBI chrNW_004955413:4,191,619...4,228,225
Ensembl chrNW_004955413:4,191,619...4,228,225
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Egfr
epidermal growth factor receptor
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chrNW_004955456:321,222...456,431
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
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Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chrNW_004955458:3,683,126...3,701,752
Ensembl chrNW_004955458:3,683,126...3,702,978
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558
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Foxl2
forkhead box L2
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:32517588
RGD:151667913
NCBI chrNW_004955501:83,965...84,476
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Gpx1
glutathione peroxidase 1
disease_progression no_association
ISO
protein:increased expression:larynx (human) DNA:missense mutation:CDS:p.P198L (rs1050450) (human) DNA:missense mutation:CDS:p.P198L (human)
RGD
PMID:24074040 PMID:27188866 PMID:28641905
RGD:152995454 RGD:152995455 RGD:152995493
NCBI chrNW_004955532:1,298,336...1,298,830
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Map2k4
mitogen-activated protein kinase kinase 4
severity
ISO
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)
RGD
PMID:19513509
RGD:150429781
NCBI chrNW_004955467:5,188,036...5,295,570
Ensembl chrNW_004955467:5,187,356...5,307,692
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Mlh1
mutL homolog 1
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17786346
RGD:5130203
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Msh2
mutS homolog 2
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
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Plcg1
phospholipase C gamma 1
ameliorates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33466212
RGD:151665160
NCBI chrNW_004955445:15,787,496...15,823,859
Ensembl chrNW_004955445:15,787,496...15,823,859
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Rela
RELA proto-oncogene, NF-kB subunit
severity
ISO
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)
RGD
PMID:19513509
RGD:150429781
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Xrcc1
X-ray repair cross complementing 1
ISO
ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma
ClinVar
NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all