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.
GViewer not supported for the selected species.
G
Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO
RGD
PMID:23211823
RGD:8694422
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
G
Anxa1
annexin A1
ISO
RGD
PMID:23201116
RGD:7421553
NCBI chrNW_004955512:5,686,508...5,703,645
G
Aqp5
aquaporin 5
ISO
MouseDO
NCBI chrNW_004955547:558,296...562,455
Ensembl chrNW_004955547:558,927...564,376
G
Awat2
acyl-CoA wax alcohol acyltransferase 2
ISO
MouseDO
NCBI chrNW_004955475:9,594,157...9,634,596
Ensembl chrNW_004955475:9,592,984...9,634,811
G
Ccl20
C-C motif chemokine ligand 20
treatment
ISO
RGD
PMID:23702781
RGD:7483582
NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19597109
RGD:8661637
NCBI chrNW_004955420:25,641,184...25,664,413
G
Far2
fatty acyl-CoA reductase 2
ISO
MouseDO
NCBI chrNW_004955505:5,585,846...5,724,234
Ensembl chrNW_004955505:5,585,846...5,663,895
G
Hspa4
heat shock protein family A (Hsp70) member 4
ISO
protein:increased expression:corneal epithelium (mouse)
RGD
PMID:22355243
RGD:6218964
NCBI chrNW_004955408:4,379,825...4,422,710
Ensembl chrNW_004955408:4,379,825...4,423,381
G
Ifng
interferon gamma
ISO
protein:increased expression:tear:
RGD
PMID:17525184
RGD:8157601
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
G
Il10
interleukin 10
ISO
associated with Sjogren's Syndrome;protein:increased expression:tear
RGD
PMID:23752063
RGD:7364807
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Il1b
interleukin 1 beta
no_association
ISO
DNA:polymorphism:exon:rs1143634 (human) DNA:SNPs:promoter:rs16944, rs1143627 (human)
RGD
PMID:22128229
RGD:7401190
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:tears (human)
RGD
PMID:20508732
RGD:8551707
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
G
Il6
interleukin 6
susceptibility
ISO
associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human)
RGD
PMID:18419107
RGD:7829751
NCBI chrNW_004955410:25,079,835...25,084,390
G
Muc1
mucin 1, cell surface associated
ISO
DNA:splice variant: :rs4072037 (human) mRNA, protein:increased expression:conjuctival epithelial cell, tear
RGD
PMID:18619437 PMID:22089171
RGD:7349375 RGD:7349376
NCBI chrNW_004955545:1,657,728...1,662,112
G
Muc16
mucin 16, cell surface associated
ISO
protein:increased expression:tear
RGD
PMID:22089171
RGD:7349375
NCBI chrNW_004955563:432,160...581,330
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
ISO
associated with Graft vs Host Disease protein:decreased expression:cornea
RGD MouseDO
PMID:17982500 PMID:19415319 PMID:21283525 PMID:23272068 PMID:23538614
RGD:2324954 RGD:7349402 RGD:7364730 RGD:7364737 RGD:7364762
NCBI chrNW_004955476:11,061,405...11,084,294
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
RGD
PMID:23272068
RGD:7364762
NCBI chrNW_004955476:11,021,665...11,049,239
G
Pltp
phospholipid transfer protein
ISO
MouseDO
NCBI chrNW_004955445:11,384,723...11,399,217
Ensembl chrNW_004955445:11,384,723...11,399,217
G
Sod1
superoxide dismutase 1
ISO
RGD MouseDO
PMID:24168989
RGD:8655609
NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
G
Tgfb1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22194977
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
G
Tlr2
toll like receptor 2
ISO
mRNA,protein:increased expression:cornea,conjunctiva,lacrimal gland: associated with Graft vs Host Disease;mRNA:increased expression:peripheral blood cell:
RGD
PMID:22025895 PMID:23372055
RGD:8552821 RGD:8552916
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
G
Tlr3
toll like receptor 3
ISO
mRNA,protein:increased expression:cornea,conjunctiva:
RGD
PMID:23372055
RGD:8552916
NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
G
Tlr4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:23372055
RGD:8552916
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:23211823
RGD:8694422
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Fam83h
family with sequence similarity 83 member H
ISO
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis
OMIA
PMID:16961470 PMID:22212237 PMID:22253609 PMID:22339941 PMID:29284193 PMID:30650096 More...
NCBI chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194
G
Ccl20
C-C motif chemokine ligand 20
ISO
mRNA:increased expression:conjunctiva, cornea
RGD
PMID:20007286
RGD:7483613
NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
G
Il6
interleukin 6
ISO
associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva:
RGD
PMID:10487957
RGD:7829756
NCBI chrNW_004955410:25,079,835...25,084,390
G
Muc4
mucin 4, cell surface associated
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chrNW_004955420:12,228,801...12,274,840
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chrNW_004955476:11,061,405...11,084,294
G
Tnf
tumor necrosis factor
ISO
associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva:
RGD
PMID:10487957
RGD:7829756
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Aire
autoimmune regulator
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955407:41,157,503...41,165,032
Ensembl chrNW_004955407:41,157,484...41,165,014
G
Apoe
apolipoprotein E
onset
ISO
DNA:polymorphism:exon:
RGD
PMID:15328426
RGD:7495765
NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
G
Bdnf
brain derived neurotrophic factor
severity
ISO
protein:increased expression:serum:
RGD
PMID:18830907
RGD:8657019
NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
G
C3
complement C3
ISO
RGD
PMID:17675493
RGD:7401265
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
G
Cast
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:15540513
RGD:5683622
NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169
G
Ccr7
C-C motif chemokine receptor 7
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955451:15,086,119...15,101,862
Ensembl chrNW_004955451:15,086,119...15,095,561
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:salivary ductal epithelium (human)
RGD
PMID:12472667
RGD:11520791
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human) mRNA:increased expression:salivary gland:
RGD
PMID:12528117 PMID:16869018
RGD:7421506 RGD:7421519
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
G
Dgkq
diacylglycerol kinase theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chrNW_004955514:452,548...475,240
Ensembl chrNW_004955514:453,886...464,978
G
E2f1
E2F transcription factor 1
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955422:27,638,625...27,643,261
Ensembl chrNW_004955422:27,633,827...27,642,241
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:serum (human) OMIM:270150 protein:decreased expression:lacrimal gland, lymphocyte (mouse)
RGD MouseDO
PMID:9870874 PMID:9890678 PMID:11157873
RGD:8662410 RGD:8662436 RGD:8662451
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
G
Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
G
Gtf2i
general transcription factor IIi
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066
NCBI chrNW_004955456:13,371,306...13,461,846
Ensembl chrNW_004955456:13,369,772...13,446,815
G
Hmox1
heme oxygenase 1
treatment
ISO
RGD
PMID:24941846
RGD:10450595
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
G
Hnrnph1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:19264855
RGD:10054311
NCBI chrNW_004955408:937,706...944,969
Ensembl chrNW_004955408:936,595...948,064
G
Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:plasma protein:increased expression:salivary gland
RGD
PMID:11359451 PMID:15037117 PMID:21589878
RGD:8158122 RGD:8547696 RGD:8547705
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
G
Id3
inhibitor of DNA binding 3, HLH protein
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955452:3,537,352...3,538,921
Ensembl chrNW_004955452:3,537,021...3,560,954
G
Ifng
interferon gamma
ISO
RGD
PMID:15584966 PMID:28421993
RGD:14975117 RGD:8142390
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
G
Il10
interleukin 10
ISO
RGD
PMID:12233881
RGD:1580479
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Il12a
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chrNW_004955448:10,611,131...10,617,911
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chrNW_004955408:4,046,406...4,049,795
G
Il17a
interleukin 17A
ISO
RGD
PMID:21182786
RGD:8696035
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
G
Il18
interleukin 18
ISO
protein:increased expression:saliva
RGD
PMID:23906036
RGD:8655918
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
G
Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) protein:increased expression:conjunctiva (human)
RGD
PMID:9646842 PMID:11527941
RGD:8549786 RGD:8549807
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
G
Il2
interleukin 2
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
G
Il23r
interleukin 23 receptor
ISO
protein:increased expression:minor salivary gland:
RGD
PMID:22262980
RGD:8549566
NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904
G
Il2ra
interleukin 2 receptor subunit alpha
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955421:22,642,004...22,694,729
Ensembl chrNW_004955421:22,641,511...22,694,913
G
Il4
interleukin 4
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955408:4,058,052...4,065,999
G
Il6
interleukin 6
severity
ISO
protein:increased expression:plasma: DNA:polymorphims:promoter:-174G>C(human)
RGD
PMID:11426023
RGD:7829718
NCBI chrNW_004955410:25,079,835...25,084,390
G
Irak1bp1
interleukin 1 receptor associated kinase 1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chrNW_004955502:6,800,532...6,811,214
Ensembl chrNW_004955502:6,800,595...6,810,880
G
Itsn2
intersectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chrNW_004955469:6,358,131...6,493,956
Ensembl chrNW_004955469:6,358,131...6,493,956
G
LOC102010850
cytochrome P450 1A1
ISO
associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human)
RGD
PMID:12590982
RGD:5147747
NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
G
LOC102023780
aromatase
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
G
Lta
lymphotoxin alpha
no_association susceptibility
ISO
DNA:SNPs: :multiple (human) DNA:SNP, haplotype:intron: (rs909253) (human) protein:increased expression:saliva, serum
RGD
PMID:20952683 PMID:22294627
RGD:8548776 RGD:8548787
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
G
Map3k14
mitogen-activated protein kinase kinase kinase 14
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955451:17,907,800...17,954,821
Ensembl chrNW_004955451:17,908,827...17,926,151
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity:saliva
RGD
PMID:9923658 PMID:15316122
RGD:8547814 RGD:8547858
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
G
Muc16
mucin 16, cell surface associated
ISO
mRNA, protein:increased expression:conjunctival epithelial cell, tear
RGD
PMID:19122828
RGD:7364772
NCBI chrNW_004955563:432,160...581,330
G
Muc19
mucin 19, oligomeric
ISO
mRNA:decreased expression:conjunctival epithelial cell OMIM:270150
RGD MouseDO
PMID:18184611
RGD:7364736
NCBI chrNW_004955505:729...64,653
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:conjunctival epithelial cell
RGD
PMID:18184611
RGD:7364736
NCBI chrNW_004955476:11,061,405...11,084,294
G
Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chrNW_004955456:13,353,780...13,363,956
Ensembl chrNW_004955456:13,354,011...13,363,891
G
Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:32423153
RGD:127284890
NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026
G
Nfkbia
NFKB inhibitor alpha
ISO
OMIM:270150
RGD MouseDO
PMID:20696914
RGD:126908016
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
G
Phip
pleckstrin homology domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chrNW_004955502:6,842,149...6,951,791
Ensembl chrNW_004955502:6,842,149...6,935,263
G
Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:20497955
RGD:8547550
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
G
Prdm1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chrNW_004955411:31,434,503...31,455,995
Ensembl chrNW_004955411:31,434,503...31,456,056
G
Ptpn22
protein tyrosine phosphatase non-receptor type 22
no_association
ISO
DNA:snp:cds:c.1858C>T (human)
RGD
PMID:15933742 PMID:16163373
RGD:11534998 RGD:11534999
NCBI chrNW_004955435:17,082,762...17,139,067
G
Pttg1
PTTG1 regulator of sister chromatid separation, securin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chrNW_004955408:14,293,704...14,301,357
G
Rorc
RAR related orphan receptor C
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955589:590,653...616,784
Ensembl chrNW_004955589:590,743...616,694
G
Satb1
SATB homeobox 1
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955430:10,587,539...10,683,887
Ensembl chrNW_004955430:10,587,539...10,683,887
G
Selp
selectin P
ISO
protein:increased expression:plasma
RGD
PMID:19832990
RGD:6478702
NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
G
St14
ST14 transmembrane serine protease matriptase
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050
G
Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNP:intron: (rs7574865) (human) DNA:SNP:intron: (rs7582694) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18273036 PMID:20360187 PMID:20535138 PMID:24097066 PMID:24097067
RGD:8661690 RGD:8661708 RGD:8661709
NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
G
Tgfb1
transforming growth factor beta 1
severity
ISO
OMIM:270150
RGD MouseDO
PMID:7554451 PMID:9358754
RGD:7394829 RGD:7394845
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
G
Thbs1
thrombospondin 1
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955416:6,490,034...6,506,419
Ensembl chrNW_004955416:6,489,451...6,506,419
G
Tnf
tumor necrosis factor
treatment
ISO
DNA:polymorphism: :-1031T>C(human)
RGD
PMID:22703762 PMID:24941846
RGD:10450595 RGD:7394766
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066 PMID:24097067
NCBI chrNW_004955436:21,566,591...21,581,551
Ensembl chrNW_004955436:21,566,423...21,578,469
G
Tnfsf13b
TNF superfamily member 13b
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955404:3,536,041...3,573,242
Ensembl chrNW_004955404:3,536,868...3,569,750
G
Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chrNW_004955408:2,575,324...2,621,845
Ensembl chrNW_004955408:2,594,756...2,621,304
G
Traf3ip2
TRAF3 interacting protein 2
ISO
OMIM:270150
MouseDO
NCBI chrNW_004955411:36,328,152...36,363,614
Ensembl chrNW_004955411:36,326,926...36,363,288
G
Vim
vimentin
ISO
RGD
PMID:6352937
RGD:6480477
NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
G
Vip
vasoactive intestinal peptide
ISO
RGD
PMID:22059987
RGD:5685375
NCBI chrNW_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all