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.
G
Dspp
dentin sialophosphoprotein
ISO
ClinVar Annotator: match by term: Denticles | ClinVar Annotator: match by term: Pulpal dysplasia
ClinVar
PMID:12354781 PMID:18456718 PMID:25741868 PMID:26788535 PMID:28492532
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
G
Cd86
CD86 molecule
IEP
mRNA:increased expression:thalamus (rat) mRNA:increased expression:periodontal ligament (rat)
RGD
PMID:20171363 PMID:20113783
RGD:4892246 , RGD:4892210
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818
G
Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
IEP
protein:increased expression:neuron:
RGD
PMID:17645513
RGD:9686147
NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:49,495,771...49,899,774
G
Hcn2
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
IEP
protein:increased expression:neuron:
RGD
PMID:17645513
RGD:9686147
NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
G
Hcn3
hyperpolarization-activated cyclic nucleotide-gated potassium channel 3
IEP
protein:increased expression:neuron:
RGD
PMID:17645513
RGD:9686147
NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
G
Optn
optineurin
IEP
mRNA:increased expression:dental pulp (rat)
RGD
PMID:16109995
RGD:7775038
NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251
G
S100b
S100 calcium binding protein B
IEP
protein:increased expression:brain, astrocyte
RGD
PMID:20043976
RGD:5508788
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
G
Dspp
dentin sialophosphoprotein
ISO
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
G
Ifng
interferon gamma
IEP
RGD
PMID:12017181
RGD:10755771
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
G
Il1r1
interleukin 1 receptor type 1
IEP
protein:increased expression:dental pulp,trigeminal ganglion:
RGD
PMID:19732182
RGD:8662895
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
G
Tlr4
toll-like receptor 4
IEP
protein:increased expression:ganglion:
RGD
PMID:24267924
RGD:7777125
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all