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 chr21:119,174,829...119,196,840
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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 chr 8:62,052,155...62,056,424
Ensembl chr 8:62,052,592...62,053,182
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HTR3A
5-hydroxytryptamine receptor 3A
ISO
DNA:SNP:promoter:c.-42C>T(human)
RGD
PMID:22014438
RGD:6480658
NCBI chr 1:105,359,139...105,375,217
Ensembl chr 1:105,359,730...105,374,664
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IFNG
interferon gamma
treatment
ISO
RGD
PMID:28854971
RGD:14975120
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IL10
interleukin 10
no_association
ISO
DNA:SNP:promoter:-819C>A (rs1800871)(human) DNA:SNP:promoter:-1082G>A (rs1800896)(human)
RGD
PMID:28965252
RGD:14975154
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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SLC6A4
solute carrier family 6 member 4
susceptibility
ISO
DNA:haplotypes, multiple: DNA:polymorphism: :
RGD
PMID:22014438 PMID:24720453
RGD:36947385 RGD:6480658
NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616
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HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20378827
NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971
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