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
Ereg
epiregulin
ISO
mRNA:increased expression:external acoustic meatus (human)
RGD
PMID:24256036
RGD:39457690
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
G
F13b
coagulation factor XIII B chain
ISO
ClinVar Annotator: match by term: Cholesteatoma
ClinVar
NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381
G
F5
coagulation factor V
ISO
ClinVar Annotator: match by term: Cholesteatoma
ClinVar
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
G
Hgf
hepatocyte growth factor
ISO
protein:increased expression:fibroblast:
RGD
PMID:15267172
RGD:8547969
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:1384343
RGD:7401205
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:1384343 PMID:8725537
RGD:7401205 , RGD:7401208
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19484988
RGD:8657059
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19484988
RGD:8657059
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Rabgap1l
RAB GTPase activating protein 1-like
ISO
ClinVar Annotator: match by term: Cholesteatoma
ClinVar
NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24321752
RGD:8661722
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:mucosa:
RGD
PMID:22883581
RGD:7800662
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:mucosa:
RGD
PMID:22883581
RGD:7800662
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:external acoustic meatus:
RGD
PMID:15267172
RGD:8547969
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Zbtb37
zinc finger and BTB domain containing 37
ISO
ClinVar Annotator: match by term: Cholesteatoma
ClinVar
NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:
RGD
PMID:23324739
RGD:8661795
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:11078065
RGD:8547968
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:auditory canal, epidermis (human)
RGD
PMID:12838021
RGD:8694474
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:8562031
RGD:8547586
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:12768791 PMID:7503375
RGD:7794712 , RGD:11059515
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1r1
interleukin 1 receptor type 1
ISO
protein:decreased expression:skin
RGD
PMID:8737779
RGD:8662931
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
G
Il2
interleukin 2
ISO
RGD
PMID:8737779
RGD:8662931
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il6
interleukin 6
ISO
protein:increased expression:ear: associated with Otitis Media;protein:increased expression:ear:
RGD
PMID:8652157 PMID:21311206
RGD:7829727 , RGD:7364848
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Mmp1
matrix metallopeptidase 1
ISO
protein:increased expression:skin
RGD
PMID:12768791
RGD:7794712
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp2
matrix metallopeptidase 2
severity
ISO
RGD
PMID:15620146
RGD:8547870
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:15620146
RGD:8547870
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Cholesteatoma of middle ear
ClinVar
PMID:8220424 PMID:27993330
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Cholesteatoma of middle ear
ClinVar
PMID:25741868 PMID:27993330 PMID:28492532
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
ISO
associated with Otitis Media;protein:increased expression:ear:
RGD
PMID:21311206
RGD:7364848
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tp53
tumor protein p53
ISO
protein:increased expression:tympanic membrane,skin:
RGD
PMID:9455944
RGD:8547787
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Vegfa
vascular endothelial growth factor A
ISO
protein:altered expression:mucosa of the middle ear:
RGD
PMID:11078065
RGD:8547968
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:
RGD
PMID:23324739
RGD:8661795
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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