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
Irx5
iroquois homeobox 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581230
NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
G
Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: ADULT syndrome ClinVar Annotator: match by OMIM:103285
OMIM ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:16740912 PMID:17041931 PMID:17431922 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:25741868 PMID:27469932 PMID:28492532
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
G
Gmppa
GDP-mannose pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar Annotator: match by OMIM:615510
OMIM ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218
NCBI chr 9:82,632,267...82,639,811
Ensembl chr 9:82,632,230...82,639,821
G
Fgf10
fibroblast growth factor 10
ISO
ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands ClinVar Annotator: match by OMIM:180920
OMIM ClinVar
PMID:15654336 PMID:16630169 PMID:17213838 PMID:25741868 PMID:28492532
NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
G
Ccl20
C-C motif chemokine ligand 20
ISO
RGD
PMID:23116218
RGD:7483616
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:24068863
RGD:8551706
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO
RGD
PMID:23211823
RGD:8694422
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Anxa1
annexin A1
ISO
RGD
PMID:23201116
RGD:7421553
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
G
Ccl20
C-C motif chemokine ligand 20
treatment
ISO
RGD
PMID:23702781
RGD:7483582
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20575639
RGD:5130907
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19597109
RGD:8661637
G
Ccr5
C-C motif chemokine receptor 5
ISO
mRNA, protein:increased expression:conjunctiva, epithelial cell
RGD
PMID:16682594
RGD:8549761
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
G
Hspa4
heat shock protein family A (Hsp70) member 4
ISO
protein:increased expression:corneal epithelium (mouse)
RGD
PMID:22355243
RGD:6218964
NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
G
Ifng
interferon gamma
ISO
protein:increased expression:tear:
RGD
PMID:17525184
RGD:8157601
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Il10
interleukin 10
ISO
associated with Sjogren's Syndrome;protein:increased expression:tear
RGD
PMID:23752063
RGD:7364807
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il1b
interleukin 1 beta
no_association
ISO
DNA:polymorphism:exon:rs1143634 (human) DNA:SNPs:promoter:rs16944, rs1143627 (human)
RGD
PMID:22128229 , PMID:22128229
RGD:7401190 , RGD:7401190
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:tears (human)
RGD
PMID:20508732
RGD:8551707
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Il6
interleukin 6
susceptibility
ISO
associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human)
RGD
PMID:18419107
RGD:7829751
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Mmp3
matrix metallopeptidase 3
ISO
protein:increased expression:corneal epithelium
RGD
PMID:22590618
RGD:8662938
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
G
Muc1
mucin 1, cell surface associated
ISO
mRNA, protein:increased expression:conjuctival epithelial cell, tear DNA:splice variant: :rs4072037 (human)
RGD
PMID:22089171 , PMID:18619437
RGD:7349375 , RGD:7349376
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
G
Muc16
mucin 16, cell surface associated
ISO
protein:increased expression:tear
RGD
PMID:22089171
RGD:7349375
NCBI chr 8:18,438,838...18,639,777
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
IDA ISS ISO
protein:decreased expression:cornea associated with Graft vs Host Disease
MouseDO
PMID:19415319 , PMID:23272068 , PMID:17982500 , PMID:21283525 , PMID:23538614
RGD:2324954 , RGD:7364762 , RGD:7364737 , RGD:7364730 , RGD:7349402
NCBI chr 1:214,725,482...214,756,653
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
RGD
PMID:23272068
RGD:7364762
NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
G
Pltp
phospholipid transfer protein
ISS
MouseDO
NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
G
Sod1
superoxide dismutase 1
ISO ISS
MouseDO
PMID:24168989
RGD:8655609
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22194977
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Tgm1
transglutaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16146918
NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
G
Tlr2
toll-like receptor 2
ISO
associated with Graft vs Host Disease;mRNA:increased expression:peripheral blood cell: mRNA,protein:increased expression:cornea,conjunctiva,lacrimal gland:
RGD
PMID:22025895 , PMID:23372055
RGD:8552821 , RGD:8552916
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:cornea,conjunctiva:
RGD
PMID:23372055
RGD:8552916
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:23372055 , PMID:23372055
RGD:8552916 , RGD:8552916
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:23211823
RGD:8694422
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Ccl20
C-C motif chemokine ligand 20
ISO
mRNA:increased expression:conjunctiva, cornea
RGD
PMID:20007286
RGD:7483613
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16159632
RGD:8549757
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
G
Il6
interleukin 6
ISO
associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva:
RGD
PMID:10487957
RGD:7829756
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Muc4
mucin 4, cell surface associated
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr 1:214,725,482...214,756,653
G
Nrtn
neurturin
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr 9:10,299,881...10,306,599
Ensembl chr 9:10,305,470...10,306,597
G
Tnf
tumor necrosis factor
ISO
associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva:
RGD
PMID:10487957
RGD:7829756
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Igsf3
immunoglobulin superfamily, member 3
ISO
ClinVar Annotator: match by term: Lacrimal duct defect
OMIM ClinVar
PMID:24372406
NCBI chr 2:203,768,364...203,855,573
Ensembl chr 2:203,768,117...203,855,573
G
Fgf10
fibroblast growth factor 10
ISO
ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar Annotator: match by OMIM:149730
OMIM ClinVar
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868
NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
G
Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar Annotator: match by OMIM:149730
OMIM ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16158432 PMID:16440883 PMID:16501574 PMID:16838304 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: LADD syndrome ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar Annotator: match by OMIM:149730
OMIM ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28483234 PMID:28492532
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
G
Aire
autoimmune regulator
ISS
OMIM:270150
MouseDO
NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
G
Apoe
apolipoprotein E
onset
ISO
DNA:polymorphism:exon:
RGD
PMID:15328426
RGD:7495765
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
Bdnf
brain-derived neurotrophic factor
severity
ISO
protein:increased expression:serum:
RGD
PMID:18830907
RGD:8657019
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
G
Bst2
bone marrow stromal cell antigen 2
ISO
mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte:
RGD
PMID:30249485
RGD:14398821
NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
G
C3
complement C3
ISO
RGD
PMID:17675493
RGD:7401265
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
Cast
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:15540513
RGD:5683622
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
G
Ccr5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:12412204 , PMID:23773920
RGD:8551796 , RGD:8551818
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
G
Ccr7
C-C motif chemokine receptor 7
ISS
OMIM:270150
MouseDO
NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:salivary ductal epithelium (human)
RGD
PMID:12472667
RGD:11520791
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Crp
C-reactive protein
ISO
associated with Arthritis, Rheumatoid;protein:increased expression:serum:
RGD
PMID:2353152 , PMID:16013223
RGD:9491774 , RGD:9491835
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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:16869018 , PMID:12528117
RGD:7421506 , RGD:7421519
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISS
OMIM:270150
MouseDO
NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human)
RGD
PMID:12590982
RGD:5147747
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
G
Dgkq
diacylglycerol kinase, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr14:2,069,409...2,083,370
Ensembl chr14:2,069,409...2,083,370
G
E2f1
E2F transcription factor 1
ISS
OMIM:270150
MouseDO
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
G
Fas
Fas cell surface death receptor
ISO ISS
protein:increased expression:serum (human) OMIM:270150 protein:decreased expression:lacrimal gland, lymphocyte (mouse)
MouseDO
PMID:9890678 , PMID:9870874 , PMID:11157873
RGD:8662410 , RGD:8662451 , RGD:8662436
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Fcgr2a
Fc fragment of IgG receptor IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
G
Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
G
Gtf2i
general transcription factor II I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066
NCBI chr12:25,410,804...25,487,970
Ensembl chr12:25,411,207...25,488,156
G
Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:24941846
RGD:10450595
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hnrnph1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:19264855
RGD:10054311
NCBI chr10:35,872,619...35,879,911
Ensembl chr10:35,870,232...35,879,910
G
Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:salivary gland protein:increased expression:plasma
RGD
PMID:11359451 , PMID:21589878 , PMID:15037117
RGD:8158122 , RGD:8547705 , RGD:8547696
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Id3
inhibitor of DNA binding 3, HLH protein
ISS
OMIM:270150
MouseDO
NCBI chr 5:154,489,603...154,491,172
Ensembl chr 5:154,489,590...154,491,223
G
Ifng
interferon gamma
ISO
RGD
PMID:15584966 , PMID:28421993
RGD:8142390 , RGD:14975117
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Il10
interleukin 10
ISO
RGD
PMID:12233881
RGD:1580479
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il12a
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
G
Il17a
interleukin 17A
ISO
RGD
PMID:21182786
RGD:8696035
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
G
Il18
interleukin 18
ISO
protein:increased expression:saliva
RGD
PMID:23906036
RGD:8655918
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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 chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Il2
interleukin 2
ISS
OMIM:270150
MouseDO
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
G
Il23r
interleukin 23 receptor
ISO
protein:increased expression:minor salivary gland:
RGD
PMID:22262980
RGD:8549566
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
G
Il2ra
interleukin 2 receptor subunit alpha
ISS
OMIM:270150
MouseDO
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
G
Il4
interleukin 4
ISS
OMIM:270150
MouseDO
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
G
Il6
interleukin 6
severity
ISO
protein:increased expression:plasma: DNA:polymorphims:promoter:-174G>C(human)
RGD
PMID:11426023 , PMID:11426023
RGD:7829718 , RGD:7829718
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Irak1bp1
interleukin-1 receptor-associated kinase 1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 8:90,343,307...90,360,085
Ensembl chr 8:90,343,154...90,360,086
G
Itsn2
intersectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337
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 , PMID:22294627 , PMID:20952683
RGD:8548776 , RGD:8548787 , RGD:8548787 , RGD:8548776
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
G
Map3k14
mitogen-activated protein kinase kinase kinase 14
ISS
OMIM:270150
MouseDO
NCBI chr10:91,303,428...91,353,601
Ensembl chr10:91,303,428...91,353,601
G
Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:19332626
RGD:8693671
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity:saliva
RGD
PMID:15316122 , PMID:9923658
RGD:8547814 , RGD:8547858
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Muc16
mucin 16, cell surface associated
ISO
mRNA, protein:increased expression:conjunctival epithelial cell, tear
RGD
PMID:19122828
RGD:7364772
NCBI chr 8:18,438,838...18,639,777
G
Muc19
mucin 19, oligomeric
ISO ISS
mRNA:decreased expression:conjunctival epithelial cell OMIM:270150
MouseDO
PMID:18184611
RGD:7364736
NCBI chr 7:133,048,727...133,166,551
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:conjunctival epithelial cell
RGD
PMID:18184611
RGD:7364736
NCBI chr 1:214,725,482...214,756,653
G
Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
G
Nfkbia
NFKB inhibitor alpha
ISS
OMIM:270150
MouseDO
NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
G
Phip
pleckstrin homology domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 8:90,387,339...90,483,964
Ensembl chr 8:90,392,143...90,483,077
G
Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:20497955
RGD:8547550
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
Prdm1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr20:49,464,921...49,556,623
Ensembl chr20:49,464,919...49,556,518
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:snp:cds:c.1858C>T (human)
RGD
PMID:16163373 , PMID:15933742
RGD:11534998 , RGD:11534999
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
G
Pttg1
PTTG1 regulator of sister chromatid separation, securin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:29,014,332...29,026,088
Ensembl chr10:29,020,049...29,026,002
G
Reg1a
regenerating family member 1 alpha
ISO
protein:increased expression:minor salivary gland, salivary ductal epithelium (human)
RGD
PMID:19016805
RGD:9850137
NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
G
Rorc
RAR-related orphan receptor C
ISS
OMIM:270150
MouseDO
NCBI chr 2:195,612,471...195,636,797
Ensembl chr 2:195,617,021...195,637,630
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQA1*0101 (human) DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2;
RGD
PMID:11555411 , PMID:21315052
RGD:5147809 , RGD:7421543
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQB1*0201 (human) associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human) DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)
RGD
PMID:21315052 , PMID:17489060 , PMID:8468491
RGD:7421543 , RGD:36174022 , RGD:7483566
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0301 (human)
RGD
PMID:11555411
RGD:5147809
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Selp
selectin P
ISO
protein:increased expression:plasma
RGD
PMID:19832990
RGD:6478702
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
G
St14
ST14 transmembrane serine protease matriptase
ISS
OMIM:270150
MouseDO
NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
G
Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNP:intron: (rs7582694) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:intron: (rs7574865) (human)
CTD
PMID:24097066 PMID:24097067 , PMID:20535138 , PMID:20360187 , PMID:18273036
RGD:8661690 , RGD:8661709 , RGD:8661708
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
G
Tgfb1
transforming growth factor, beta 1
severity
ISO ISS
OMIM:270150
MouseDO
PMID:9358754 , PMID:7554451
RGD:7394829 , RGD:7394845
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Thbs1
thrombospondin 1
ISS
OMIM:270150
MouseDO
NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
G
Tnf
tumor necrosis factor
treatment
ISO IEP
DNA:polymorphism: :-1031T>C(human)
RGD
PMID:22703762 , PMID:24941846
RGD:7394766 , RGD:10450595
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066 PMID:24097067
NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
G
Tnfsf13b
TNF superfamily member 13b
ISS
OMIM:270150
MouseDO
NCBI chr16:85,275,690...85,306,419
Ensembl chr16:85,275,678...85,306,366
G
Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:40,255,776...40,303,092
Ensembl chr10:40,255,776...40,296,470
G
Traf3ip2
Traf3 interacting protein 2
ISS
OMIM:270150
MouseDO
NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
G
Vim
vimentin
ISO
RGD
PMID:6352937
RGD:6480477
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
G
Vip
vasoactive intestinal peptide
ISO
RGD
PMID:22059987
RGD:5685375
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all