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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Abca1
ATP binding cassette subfamily A member 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:28660384
RGD:21203516
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcb4
ATP binding cassette subfamily B member 4
disease_progression treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype, diplotype: : rs31658, rs31672,rs1149222(human)
CTD RGD
PMID:20040336 PMID:30682444 PMID:18671305 PMID:21209952
RGD:14694982 , RGD:153297773
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcc2
ATP binding cassette subfamily C member 2
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:liver
CTD RGD
PMID:15542527 PMID:15770136
RGD:14700810
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15542527
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Ace
angiotensin I converting enzyme
IEP
mRNA:increased expression:liver
RGD
PMID:19389807
RGD:2325226
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:17532087
RGD:9685452
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Agt
angiotensinogen
IEP
protein:increased expression:plasma
RGD
PMID:17532087
RGD:9685452
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Aqp4
aquaporin 4
IEP
RGD
PMID:20451280
RGD:5148030
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver:
CTD RGD
PMID:12126966 PMID:15770052
RGD:14995336
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccn2
cellular communication network factor 2
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:19371232
RGD:2314517
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cd80
Cd80 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cdh5
cadherin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:18456456
RGD:8662434
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cenpb
centromere protein B
ISO
RGD
PMID:8911074
RGD:27226708
NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470
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Clec16a
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
IEP
protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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Cpeb4
cytoplasmic polyadenylation element binding protein 4
ISO
protein:increased expression:liver
RGD
PMID:26627607
RGD:11528851
NCBI chr10:15,717,794...15,780,482
Ensembl chr10:15,717,794...15,780,603
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility no_association disease_progression
ISO
autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) (human) DNA:SNP:CDS:49A>G(human) DNA:SNPs: :rs231775, rs3087243, rs231725 (human) DNA:SNP:CDS:60G>A(rs3087243)(human)
RGD
PMID:10782900 PMID:17482523 PMID:21594562 PMID:16584111
RGD:2301998 , RGD:14398725 , RGD:14398743 , RGD:14398744
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr5
C-X-C motif chemokine receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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Cygb
cytoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
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Dag1
dystroglycan 1
IEP
mRNA:increased expression:liver
RGD
PMID:12177244
RGD:2314895
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Dennd1b
DENN domain containing 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601
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Dnase1
deoxyribonuclease 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:28263100
RGD:38500241
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15651265 PMID:15651265
RGD:9685530
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:lymphocyte:
RGD
PMID:26429926
RGD:14700711
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Foxp3
forkhead box P3
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gch1
GTP cyclohydrolase 1
treatment
IEP
RGD
PMID:20132096
RGD:329970291
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Hamp
hepcidin antimicrobial peptide
treatment
ISO IEP
mRNA:decreased expression:liver
RGD
PMID:19652645 PMID:23704825
RGD:11041639 , RGD:11041732
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hhip
Hedgehog-interacting protein
IEP
mRNA:decreased expression:
RGD
PMID:18375471
RGD:11552599
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22271822
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hmox1
heme oxygenase 1
IEP
mRNA, protein:increased expression:liver, lung
RGD
PMID:12114196
RGD:625603
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Icam1
intercellular adhesion molecule 1
treatment
ISO
associated with Graft vs Host Disease;
RGD
PMID:10051478
RGD:11520783
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igfbp1
insulin-like growth factor binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
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Il10
interleukin 10
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12a
interleukin 12A
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) DNA:SNP: :rs62270414(human) DNA:SNPs, haplotype: :rs6441286, rs574808(human)
CTD RGD
PMID:20639880 PMID:27175695 PMID:23433321 PMID:19458352
RGD:25440489 , RGD:25440498 , RGD:25440500
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il12rb1
interleukin 12 receptor subunit beta 1
susceptibility
IEP
RNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:23910013
RGD:14700865
NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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Il4
interleukin 4
treatment
IEP
RGD
PMID:20442198
RGD:7829828
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Jak2
Janus kinase 2
treatment
IMP
RGD
PMID:24619965
RGD:10403061
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Keap1
Kelch-like ECH-associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Krt18
keratin 18
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:26110613
RGD:18337483
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21681009
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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Lbr
lamin B receptor
ISO
RGD
PMID:8550049
RGD:9588625
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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Lep
leptin
ISO
protein:decreased expression:serum:
RGD
PMID:16093869
RGD:10411894
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO
protein:increased expression:serum:
RGD
PMID:16093869
RGD:10411894
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
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Map3k14
mitogen-activated protein kinase kinase kinase 14
ISS
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221
MouseDO
NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
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Mapk14
mitogen activated protein kinase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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Mas1
MAS1 proto-oncogene, G protein-coupled receptor
IEP
RGD
PMID:17532087
RGD:9685452
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Met
MET proto-oncogene, receptor tyrosine kinase
severity
ISO
RGD
PMID:19208365
RGD:14694826
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir21
microRNA 21
severity
ISO
RGD
PMID:28886078
RGD:21408577
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir223
microRNA 223
severity
ISO
RGD
PMID:28886078
RGD:21408577
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mmel1
membrane metallo-endopeptidase-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639879
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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Mmp13
matrix metallopeptidase 13
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp2
matrix metallopeptidase 2
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3
matrix metallopeptidase 3
treatment
IEP
RGD
PMID:20056896
RGD:8552731
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
treatment
IEP
RGD
PMID:20056896
RGD:8552731
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:18507686
RGD:2324885
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nos2
nitric oxide synthase 2
IEP ISO
protein:increased expression, increased activity:brain (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:21903766
RGD:5509055
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30026087 PMID:20132096
RGD:329970291
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
susceptibility
ISO
mRNA,protein:decreased expression:liver (human)
RGD
PMID:29968724
RGD:14928336
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
mRNA:altered expression:leukocyte, mononuclear
RGD
PMID:15635817
RGD:4892607
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nsa2
NSA2 ribosome biogenesis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr 2:28,443,142...28,449,393
Ensembl chr 2:28,441,269...28,449,388
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Nup62
nucleoporin 62
severity
ISO
RGD
PMID:12753810
RGD:9831196
NCBI chr 1:95,298,995...95,314,902
Ensembl chr 1:95,295,526...95,315,174
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Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:17610866
RGD:2314466
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
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Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:
RGD:6484526
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Ren
renin
IEP
protein:increased activity:plasma (rat)
RGD
PMID:22266601
RGD:6892690
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Rps6kb1
ribosomal protein S6 kinase B1
IEP
protein:increased expression, increased phosphorylation:liver
RGD
PMID:15769867
RGD:1642977
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:15713222
RGD:14401562
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Slc4a2
solute carrier family 4 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18188457
NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
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Slc51a
solute carrier family 51 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
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Slc51b
SLC51 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16423920
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
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Slco1a1
solute carrier organic anion transporter family, member 1a1
IEP
protein:decreased expression:liver
RGD
PMID:15770136
RGD:14700810
NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873
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Slco1c1
solute carrier organic anion transporter family, member 1c1
IEP
protein:decreased expression:liver
RGD
PMID:15770136
RGD:14700810
NCBI chr 4:174,466,621...174,513,290
Ensembl chr 4:174,466,631...174,513,289
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Sod2
superoxide dismutase 2
ISO
protein:increased expression:serum
RGD
PMID:1682406
RGD:2317411
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Spib
Spi-B transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20639880
NCBI chr 1:95,018,939...95,024,804
Ensembl chr 1:95,018,947...95,024,780
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Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
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Spint2
serine peptidase inhibitor, Kunitz type, 2
ISO
mRNA:increased expression:liver:
RGD
PMID:21898507
RGD:10043111
NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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Stat4
signal transducer and activator of transcription 4
susceptibility no_association
ISO
DNA:SNPs, haplotypes:multiple CTD Direct Evidence: marker/mechanism associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) DNA:SNP: intron: (rs7574865) (human) DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)
CTD RGD
PMID:21399635 PMID:24648611 PMID:26084578 PMID:28395724 PMID:24648611
RGD:25671415 , RGD:25671421 , RGD:25671416 , RGD:25671415
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30026087
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tjp2
tight junction protein 2
ISO
ClinVar Annotator: match by term: Primary biliary cholangitis
ClinVar
PMID:25741868 PMID:28492532 PMID:32439973
NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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Tlr9
toll-like receptor 9
ISO
protein:increased expression:liver, peripheral blood mononuclear cell (human)
RGD
PMID:23026026
RGD:18337477
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum (human) mRNA:increased expression:liver
RGD
PMID:9047083 PMID:17158635
RGD:14995307 , RGD:38501106
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21399635
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22961000
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Ubd
ubiquitin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18422935
NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639 Ensembl chr20:1,385,864...1,408,639
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Utp4
UTP4 small subunit processome component
ISO
North American Indian childhood cirrhosis, OMIM:604901, R565W
RGD
PMID:12417987
RGD:1600653
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP: : DNA:polymorphism: :
GAD RGD
PMID:15118671 PMID:19376604 PMID:15683428
RGD:1331525 , RGD:14401750 , RGD:14402024
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
IEP ISO
protein:increased expression:liver protein:increased expression:plasma:
RGD
PMID:26627607 PMID:26615570
RGD:11528851 , RGD:11538286
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Zc3h12a
zinc finger CCCH type containing 12A
ISS
OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221
MouseDO
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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Utp4
UTP4 small subunit processome component
ISO
ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis
ClinVar
PMID:9536098 PMID:12417987 PMID:16225863 PMID:17576681 PMID:19732766 PMID:20385600 PMID:22916032 PMID:24123366 PMID:25741868 PMID:27535533 PMID:28492532 More...
NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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Il12rb2
interleukin 12 receptor subunit beta 2
ISO
ClinVar Annotator: match by term: IL12RB2-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:96,426,396...96,515,251
Ensembl chr 4:96,426,842...96,515,289
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32827848 More...
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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