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.
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Irx5
iroquois homeobox 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581230
NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:16740912 PMID:17041931 PMID:17224651 PMID:17431922 PMID:17576681 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:24309930 PMID:25741868 PMID:27469932 PMID:28492532 PMID:34308104 More...
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Aamp
angio-associated, migratory cell protein
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Ankzf1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469
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Arpc2
actin related protein 2/3 complex, subunit 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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Asic4
acid sensing ion channel subunit family member 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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Cdk5r2
cyclin-dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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Chpf
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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Cryba2
crystallin, beta A2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Des
desmin
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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Gmppa
GDP-mannose pyrophosphorylase A
ISO ISS
OMIM:615510 ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
OMIM MouseDO ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478
NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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Gpbar1
G protein-coupled bile acid receptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Mir26b
microRNA 26b
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir375
microRNA 375
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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Pnkd
PNKD metallo-beta-lactamase domain containing
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc23a3
solute carrier family 23, member 3
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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Tmem198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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Zfp142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar
PMID:28492532
NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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Fgf10
fibroblast growth factor 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of
OMIM CTD ClinVar
PMID:15654336 PMID:16630169 PMID:17213838 PMID:25741868 PMID:28492532
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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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 chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Ccl20
C-C motif chemokine ligand 20
ISO
RGD
PMID:23116218
RGD:7483616
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:24068863
RGD:8551706
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO
RGD
PMID:23211823
RGD:8694422
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Anxa1
annexin A1
ISO
RGD
PMID:23201116
RGD:7421553
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Aqp5
aquaporin 5
ISS
MouseDO
NCBI chr 7:130,722,675...130,726,207
Ensembl chr 7:130,721,748...130,726,209
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Awat2
acyl-CoA wax alcohol acyltransferase 2
ISS
MouseDO
NCBI chr X:65,481,676...65,490,562
Ensembl chr X:65,481,929...65,527,625
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C3
complement C3
severity
ISO
RGD
PMID:28918083
RGD:408395145
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Calml5
calmodulin-like 5
severity
ISO
RGD
PMID:28918083
RGD:408395145
NCBI chr17:66,394,433...66,395,352
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Ccl20
C-C motif chemokine ligand 20
treatment
ISO
RGD
PMID:23702781
RGD:7483582
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20575639
RGD:5130907
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19597109
RGD:8661637
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
mRNA, protein:increased expression:conjunctiva, epithelial cell
RGD
PMID:16682594
RGD:8549761
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Far2
fatty acyl CoA reductase 2
ISS
MouseDO
NCBI chr 4:180,973,968...181,087,862
Ensembl chr 4:181,007,622...181,087,255
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Hspa4
heat shock protein family A (Hsp70) member 4
ISO
protein:increased expression:corneal epithelium (mouse)
RGD
PMID:22355243
RGD:6218964
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
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Ifng
interferon gamma
ISO
protein:increased expression:tear:
RGD
PMID:17525184
RGD:8157601
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
associated with Sjogren's Syndrome;protein:increased expression:tear
RGD
PMID:23752063
RGD:7364807
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:tears (human)
RGD
PMID:20508732
RGD:8551707
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
susceptibility
ISO
associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human)
RGD
PMID:18419107
RGD:7829751
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mmp3
matrix metallopeptidase 3
ISO
protein:increased expression:corneal epithelium
RGD
PMID:22590618
RGD:8662938
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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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 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc16
mucin 16, cell surface associated
ISO
protein:increased expression:tear
RGD
PMID:22089171
RGD:7349375
NCBI chr 8:16,164,531...16,323,126
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
IDA ISS ISO
protein:decreased expression:cornea associated with Graft vs Host Disease
MouseDO RGD
PMID:19415319 PMID:23272068 PMID:17982500 PMID:21283525 PMID:23538614
RGD:2324954 , RGD:7364762 , RGD:7364737 , RGD:7364730 , RGD:7349402
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
RGD
PMID:23272068
RGD:7364762
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Pltp
phospholipid transfer protein
ISS
MouseDO
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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Sod1
superoxide dismutase 1
ISO ISS
MouseDO RGD
PMID:24168989
RGD:8655609
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22194977
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgm1
transglutaminase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16146918
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:cornea,conjunctiva:
RGD
PMID:23372055
RGD:8552916
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:23372055 PMID:23372055
RGD:8552916 , RGD:8552916
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:23211823
RGD:8694422
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Ccl20
C-C motif chemokine ligand 20
ISO
mRNA:increased expression:conjunctiva, cornea
RGD
PMID:20007286
RGD:7483613
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16159632
RGD:8549757
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Il6
interleukin 6
ISO
associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva:
RGD
PMID:10487957
RGD:7829756
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Muc4
mucin 4, cell surface associated
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr11:68,008,245...68,053,242
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Nrtn
neurturin
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102
G
Tnf
tumor necrosis factor
ISO
associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva:
RGD
PMID:10487957
RGD:7829756
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Igsf3
immunoglobulin superfamily, member 3
ISO
ClinVar Annotator: match by term: Lacrimal duct defect CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24372406 PMID:25741868
NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645
G
Igsf3
immunoglobulin superfamily, member 3
ISO
ClinVar Annotator: match by term: Lacrimal puncta, absence of
ClinVar
PMID:24372406 PMID:25741868
NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645
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Fgf10
fibroblast growth factor 10
ISS ISO
OMIM:149730 ClinVar Annotator: match by term: Levy-Hollister syndrome
MouseDO ClinVar
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome
OMIM ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:31502745 PMID:36474027 More...
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2
OMIM ClinVar
PMID:16501574 PMID:28483234 PMID:28492532 PMID:32715658
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgf10
fibroblast growth factor 10
ISO
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3
OMIM ClinVar
PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
G
Fgf10
fibroblast growth factor 10
ISO
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
CTD ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:31502745 PMID:36474027 More...
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: LADD syndrome
ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Aire
autoimmune regulator
ISS
OMIM:270150
MouseDO
NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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Apoe
apolipoprotein E
onset
ISO
DNA:polymorphism:exon:
RGD
PMID:15328426
RGD:7495765
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bdnf
brain-derived neurotrophic factor
severity
ISO
protein:increased expression:serum:
RGD
PMID:18830907
RGD:8657019
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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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 chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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C3
complement C3
ISO
RGD
PMID:17675493
RGD:7401265
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Car1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208
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Car2
carbonic anhydrase 2
ISO
RGD
PMID:15831920 PMID:12806141
RGD:408425973 , RGD:408425977
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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Cast
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:15540513
RGD:5683622
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Ccr7
C-C motif chemokine receptor 7
ISS
OMIM:270150
MouseDO
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd40lg
CD40 ligand
ISO
protein:increased expression:salivary ductal epithelium (human)
RGD
PMID:12472667
RGD:11520791
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Crp
C-reactive protein
ISO
associated with Arthritis, Rheumatoid;protein:increased expression:serum:
RGD
PMID:2353152 PMID:16013223
RGD:9491774 , RGD:9491835
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISS
OMIM:270150
MouseDO
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dgkq
diacylglycerol kinase, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
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E2f1
E2F transcription factor 1
ISS
OMIM:270150
MouseDO
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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Fas
Fas cell surface death receptor
ISO ISS
protein:increased expression:serum (human) OMIM:270150 protein:decreased expression:lacrimal gland, lymphocyte (mouse)
MouseDO RGD
PMID:9890678 PMID:9870874 PMID:11157873
RGD:8662410 , RGD:8662451 , RGD:8662436
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fcgr2a
Fc gamma receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Gtf2i
general transcription factor II I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066
NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:24941846
RGD:10450595
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hnrnph1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:19264855
RGD:10054311
NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:salivary gland protein:increased expression:plasma
RGD
PMID:11359451 PMID:15037117 PMID:21589878
RGD:8158122 , RGD:8547696 , RGD:8547705
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Id3
inhibitor of DNA binding 3
ISS
OMIM:270150
MouseDO
NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
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Ifng
interferon gamma
ISO
RGD
PMID:15584966 PMID:28421993
RGD:8142390 , RGD:14975117
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
RGD
PMID:12233881
RGD:1580479
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12a
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
ISO
RGD
PMID:21182786
RGD:8696035
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
ISO
protein:increased expression:saliva
RGD
PMID:23906036
RGD:8655918
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISS
OMIM:270150
MouseDO
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il23r
interleukin 23 receptor
ISO
protein:increased expression:minor salivary gland:
RGD
PMID:22262980
RGD:8549566
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
G
Il2ra
interleukin 2 receptor subunit alpha
ISS
OMIM:270150
MouseDO
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
G
Il4
interleukin 4
ISS
OMIM:270150
MouseDO
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irak1bp1
interleukin-1 receptor-associated kinase 1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289
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Itsn2
intersectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
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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 chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Map3k14
mitogen-activated protein kinase kinase kinase 14
ISS
OMIM:270150
MouseDO
NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:19332626
RGD:8693671
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity:saliva
RGD
PMID:15316122 PMID:9923658
RGD:8547814 , RGD:8547858
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc16
mucin 16, cell surface associated
ISO
mRNA, protein:increased expression:conjunctival epithelial cell, tear
RGD
PMID:19122828
RGD:7364772
NCBI chr 8:16,164,531...16,323,126
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Muc19
mucin 19, oligomeric
ISO ISS
mRNA:decreased expression:conjunctival epithelial cell OMIM:270150
MouseDO RGD
PMID:18184611
RGD:7364736
NCBI chr 7:123,017,896...123,139,053
Ensembl chr 7:123,017,896...123,139,053
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:conjunctival epithelial cell
RGD
PMID:18184611
RGD:7364736
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:32423153
RGD:127284890
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Nfkbia
NFKB inhibitor alpha
ISS ISO
OMIM:270150
MouseDO RGD
PMID:20696914
RGD:126908016
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Phip
pleckstrin homology domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:20497955
RGD:8547550
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Prdm1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Pttg1
PTTG1 regulator of sister chromatid separation, securin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837
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Reg1a
regenerating family member 1 alpha
ISO
protein:increased expression:minor salivary gland, salivary ductal epithelium (human)
RGD
PMID:19016805
RGD:9850137
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Rorc
RAR-related orphan receptor C
ISS
OMIM:270150
MouseDO
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
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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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0301 (human)
RGD
PMID:11555411
RGD:5147809
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Satb1
SATB homeobox 1
ISS
OMIM:270150
MouseDO
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Selp
selectin P
ISO
protein:increased expression:plasma
RGD
PMID:19832990
RGD:6478702
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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St14
ST14 transmembrane serine protease matriptase
ISS
OMIM:270150
MouseDO
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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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 RGD
PMID:24097066 PMID:24097067 PMID:20535138 PMID:20360187 PMID:18273036
RGD:8661690 , RGD:8661709 , RGD:8661708
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tgfb1
transforming growth factor, beta 1
severity
ISO ISS
OMIM:270150
MouseDO RGD
PMID:9358754 PMID:7554451
RGD:7394829 , RGD:7394845
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Thbs1
thrombospondin 1
ISS
OMIM:270150
MouseDO
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Tnf
tumor necrosis factor
treatment
ISO IEP
DNA:polymorphism: :-1031T>C(human)
RGD
PMID:22703762 PMID:24941846
RGD:7394766 , RGD:10450595
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066 PMID:24097067
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfsf13b
TNF superfamily member 13b
ISS
OMIM:270150
MouseDO
NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
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Traf3ip2
Traf3 interacting protein 2
ISS
OMIM:270150
MouseDO
NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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Vim
vimentin
ISO
RGD
PMID:6352937
RGD:6480477
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:22059987
RGD:5685375
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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