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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Nos3
nitric oxide synthase 3
ISO
mRNA:decreased expression:pyloric antrum (rat)
RGD
PMID:29071981
RGD:13446417
NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
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Crh
corticotropin releasing hormone
ISO
protein:increased expression:central nucleus of amygdala, paraventricular hypothalamic nucleus (rat)
RGD
PMID:21589865
RGD:5490556
NCBI chrNW_004624744:25,194,458...25,196,658
Ensembl chrNW_004624744:25,194,495...25,196,488
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Htr3a
5-hydroxytryptamine receptor 3A
ISO
DNA:SNP:promoter:c.-42C>T(human)
RGD
PMID:22014438
RGD:6480658
NCBI chrNW_004624784:9,470,440...9,483,132
Ensembl chrNW_004624784:9,470,344...9,483,595
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Ifng
interferon gamma
treatment
ISO
RGD
PMID:28854971
RGD:14975120
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Il10
interleukin 10
no_association
ISO
DNA:SNP:promoter:-1082G>A (rs1800896)(human) DNA:SNP:promoter:-819C>A (rs1800871)(human)
RGD
PMID:28965252
RGD:14975154
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
DNA:polymorphism: : DNA:haplotypes, multiple:
RGD
PMID:22014438 PMID:24720453
RGD:36947385 RGD:6480658
NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20378827
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
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