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
Glmn
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Familial glomangioma
ClinVar
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754
G
Glmn
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754
G
Glmn
glomulin, FKBP associated protein
ISO
glomuvenous malformations
RGD
PMID:11845407
RGD:1598992
NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754
G
Dll4
delta like canonical Notch ligand 4
ISO
mRNA,protein:increased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
G
Ephb4
Eph receptor B4
ISO
mRNA,protein:decreased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
G
Hes1
hes family bHLH transcription factor 1
ISO
mRNA:increased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
G
Hey1
hairy/enhancer-of-split related with YRPW motif 1
ISO
mRNA,protein:increased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
G
Hey2
hairy/enhancer-of-split related with YRPW motif 2
ISO
mRNA:increased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797
G
Kdr
kinase insert domain protein receptor
ISO
mRNA:increased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
G
Notch1
notch 1
ISO
mRNA,protein:increased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
G
Notch4
notch 4
ISO
mRNA,protein:increased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
G
Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:anterior temporal lobe
RGD
PMID:26951238
RGD:155663351
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all