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
Fas
Fas cell surface death receptor
ISO
protein:increased expression:conjunctival epithelial cell (human)
RGD
PMID:9990333
RGD:8662412
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Lamp2
lysosomal-associated membrane protein 2
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:29720683
RGD:13703117
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
G
Lamp2em1
lysosomal-associated membrane protein 2; TALEN induced mutant1
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:29720683
RGD:13703117
G
Ccl11
C-C motif chemokine ligand 11
IEP
mRNA:increased expression:conjunctiva
RGD
PMID:12682842
RGD:2307196
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:19553621
RGD:8548840
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
IEP
mRNA:increased expression:conjunctiva
RGD
PMID:12682842
RGD:2307196
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccl7
C-C motif chemokine ligand 7
ISO
protein:increased expression:conjunctiva
RGD
PMID:11090473
RGD:6483824
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
G
Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:18658092
RGD:6893389
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:8766745
RGD:8547686
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifng
interferon gamma
IDA ISO
RGD
PMID:12234900 PMID:16123425
RGD:8142386 , RGD:8142391
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
treatment
ISO
protein:increased expression:tear
RGD
PMID:22092652 PMID:16914468 PMID:15144463 PMID:19060266
RGD:7364837 , RGD:11041889 , RGD:7365076 , RGD:7365027
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il13
interleukin 13
ISO
associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human)
RGD
PMID:9191598 PMID:22023794
RGD:8549533 , RGD:8549595
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:9326725
RGD:7401198
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:10549671
RGD:8549802
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il4r
interleukin 4 receptor
susceptibility
ISO
associated with rhinitis; DNA:SNP: : rs2107356 (human)
RGD
PMID:20002627
RGD:4890389
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
G
Irf1
interferon regulatory factor 1
IEP
RGD
PMID:14605445
RGD:5128787
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
G
Lck
LCK proto-oncogene, Src family tyrosine kinase
IDA
protein:increased phosphorylation:T cell
RGD
PMID:14507881
RGD:1600225
NCBI chr 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794
G
Muc1
mucin 1, cell surface associated
severity
ISO
RGD
PMID:17177679
RGD:7349351
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Muc2
mucin 2, oligomeric mucus/gel-forming
severity
ISO
RGD
PMID:17177679
RGD:7349351
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Muc4
mucin 4, cell surface associated
severity
ISO
RGD
PMID:17177679 PMID:11581187
RGD:7349351 , RGD:7349400
NCBI chr11:68,008,245...68,053,242
G
Pla2g2a
phospholipase A2 group IIA
ISO
protein:increased expression:body fluid or substance
RGD
PMID:21042565
RGD:6482725
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
G
Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:16914468
RGD:11041889
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tlr2
toll-like receptor 2
ISO
associated with Staphylococcal Infections;
RGD
PMID:19358332
RGD:8552826
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:conjunctiva:
RGD
PMID:21820713 PMID:16023216 PMID:21391988
RGD:7777131 , RGD:7794849 , RGD:7794770
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr9
toll-like receptor 9
ISO
mRNA,protein:decreased expression:conjunctiva:
RGD
PMID:16023216
RGD:7794849
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnc
tenascin C
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:18305139
RGD:4889589
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
associated with Eosinophilic Esophagitis; DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
G
Il3
interleukin 3
susceptibility
ISO
DNA:SNP: :rs40401(human)
RGD
PMID:23953855
RGD:13506915
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all