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
Aire
autoimmune regulator
ISS
OMIM:270150
MouseDO
NCBI chr20:10,635,775...10,650,709
Ensembl chr20:10,635,775...10,650,709
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Apoe
apolipoprotein E
onset
ISO
DNA:polymorphism:exon:
RGD
PMID:15328426
RGD:7495765
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
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Bdnf
brain-derived neurotrophic factor
severity
ISO
protein:increased expression:serum:
RGD
PMID:18830907
RGD:8657019
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657
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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 chr16:18,250,593...18,254,967
Ensembl chr16:18,251,847...18,254,967
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C3
complement C3
ISO
RGD
PMID:17675493
RGD:7401265
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
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Ca1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:88,495,475...88,593,454
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Car2
carbonic anhydrase 2
ISO
RGD
PMID:15831920 PMID:12806141
RGD:408425973 , RGD:408425977
NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:88,462,872...88,478,064
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Cast
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:15540513
RGD:5683622
NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180
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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 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
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Ccr7
C-C motif chemokine receptor 7
ISS
OMIM:270150
MouseDO
NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,593,594...84,604,501
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Cd40lg
CD40 ligand
ISO
protein:increased expression:salivary ductal epithelium (human)
RGD
PMID:12472667
RGD:11520791
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
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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 chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
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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 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISS
OMIM:270150
MouseDO
NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:63,449,148...63,476,917
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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 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012
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Dgkq
diacylglycerol kinase, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr14:1,203,380...1,217,536
Ensembl chr14:1,203,565...1,218,024
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E2f1
E2F transcription factor 1
ISS
OMIM:270150
MouseDO
NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563
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Fas
Fas cell surface death receptor
ISO ISS
protein:increased expression:serum (human) protein:decreased expression:lacrimal gland, lymphocyte (mouse) OMIM:270150
MouseDO RGD
PMID:9890678 PMID:11157873 PMID:9870874
RGD:8662410 , RGD:8662436 , RGD:8662451
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
G
Fcgr2a
Fc gamma receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394 Ensembl chr13:85,855,437...85,864,394
G
Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:58,621,327...58,647,240
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Gtf2i
general transcription factor II I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066
NCBI chr12:28,037,344...28,112,677
Ensembl chr12:28,037,853...28,112,677
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:24941846
RGD:10450595
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818
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Hnrnph1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:19264855
RGD:10054311
NCBI chr10:35,187,412...35,203,909
Ensembl chr10:35,193,890...35,203,906
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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 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617
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Id3
inhibitor of DNA binding 3
ISS
OMIM:270150
MouseDO
NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:153,630,498...153,657,856
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Ifng
interferon gamma
ISO
RGD
PMID:15584966 PMID:28421993
RGD:8142390 , RGD:14975117
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
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Il10
interleukin 10
ISO
RGD
PMID:12233881
RGD:1580479
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
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Il12a
interleukin 12A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:155,275,625...155,282,997
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Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:12051401
RGD:8549582
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483
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Il17a
interleukin 17A
ISO
RGD
PMID:21182786
RGD:8696035
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
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Il18
interleukin 18
ISO
protein:increased expression:saliva
RGD
PMID:23906036
RGD:8655918
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
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 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
G
Il2
interleukin 2
ISS
OMIM:270150
MouseDO
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
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Il23r
interleukin 23 receptor
ISO
protein:increased expression:minor salivary gland:
RGD
PMID:22262980
RGD:8549566
NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110
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Il2ra
interleukin 2 receptor subunit alpha
ISS
OMIM:270150
MouseDO
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507
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Il4
interleukin 4
ISS
OMIM:270150
MouseDO
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
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 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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Irak1bp1
interleukin-1 receptor-associated kinase 1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 8:92,608,468...92,628,377
Ensembl chr 8:92,611,843...92,628,377
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Itsn2
intersectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 6:33,336,086...33,446,818
Ensembl chr 6:33,336,441...33,446,818
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Lta
lymphotoxin alpha
susceptibility no_association
ISO
protein:increased expression:saliva, serum DNA:SNP, haplotype:intron: (rs909253) (human) DNA:SNPs: :multiple (human)
RGD
PMID:20952683 PMID:20952683 PMID:22294627 PMID:22294627
RGD:8548776 , RGD:8548776 , RGD:8548787 , RGD:8548787
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533
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Map3k14
mitogen-activated protein kinase kinase kinase 14
ISS
OMIM:270150
MouseDO
NCBI chr10:88,665,417...88,715,669
Ensembl chr10:88,665,417...88,715,592
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Mmp3
matrix metallopeptidase 3
ISO
RGD
PMID:19332626
RGD:8693671
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity:saliva
RGD
PMID:15316122 PMID:9923658
RGD:8547814 , RGD:8547858
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
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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 8:24,440,840...24,644,494
G
Muc19
mucin 19, oligomeric
ISO ISS
mRNA:decreased expression:conjunctival epithelial cell OMIM:270150
MouseDO RGD
PMID:18184611
RGD:7364736
NCBI chr 7:124,897,424...125,018,582
Ensembl chr 7:124,897,424...125,018,582
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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 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006
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Ncf1
neutrophil cytosolic factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28135245
NCBI chr12:28,121,816...28,131,080
Ensembl chr12:28,121,366...28,131,079
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:32423153
RGD:127284890
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
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Nfkbia
NFKB inhibitor alpha
ISS ISO
OMIM:270150
MouseDO RGD
PMID:20696914
RGD:126908016
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
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Phip
pleckstrin homology domain interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr 8:92,656,890...92,771,098
Ensembl chr 8:92,656,890...92,771,021
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:20497955
RGD:8547550
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924
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Prdm1
PR/SET domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr20:49,542,465...49,564,088
Ensembl chr20:49,542,465...49,564,088
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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 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209
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Pttg1
PTTG1 regulator of sister chromatid separation, securin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:28,394,940...28,406,410
Ensembl chr10:28,394,814...28,406,309
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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 4:112,450,466...112,453,130
Ensembl chr 4:112,450,468...112,453,585
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Rorc
RAR-related orphan receptor C
ISS
OMIM:270150
MouseDO
NCBI chr 2:184,698,779...184,723,942
Ensembl chr 2:184,698,818...184,724,566
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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 chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQB1*0201 (human) DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human) associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human)
RGD
PMID:21315052 PMID:8468491 PMID:17489060
RGD:7421543 , RGD:7483566 , RGD:36174022
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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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 chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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Satb1
SATB homeobox 1
ISS
OMIM:270150
MouseDO
NCBI chr 9:4,916,958...5,010,359
Ensembl chr 9:4,917,215...4,989,925
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Selp
selectin P
ISO
protein:increased expression:plasma
RGD
PMID:19832990
RGD:6478702
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:79,009,475...79,044,987
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St14
ST14 transmembrane serine protease matriptase
ISS
OMIM:270150
MouseDO
NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:37,798,995...37,855,652
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Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNP:intron: (rs7582694) (human) DNA:SNP:intron: (rs7574865) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24097066 PMID:24097067 PMID:20535138 PMID:18273036 PMID:20360187
RGD:8661690 , RGD:8661708 , RGD:8661709
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
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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 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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Thbs1
thrombospondin 1
ISS
OMIM:270150
MouseDO
NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:125,510,250...125,525,402
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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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097066 PMID:24097067
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979
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Tnfsf13b
TNF superfamily member 13b
ISS
OMIM:270150
MouseDO
NCBI chr16:86,164,377...86,195,072
Ensembl chr16:86,164,377...86,194,499
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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24097067
NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,537,437...39,585,158
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Traf3ip2
Traf3 interacting protein 2
ISS
OMIM:270150
MouseDO
NCBI chr20:44,565,992...44,609,240
Ensembl chr20:44,517,242...44,609,618
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Vim
vimentin
ISO
RGD
PMID:6352937
RGD:6480477
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:22059987
RGD:5685375
NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:44,470,462...44,478,558
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