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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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20961953
NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20961953
NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
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Tlx1
T-cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7908720
NCBI chr 1:264,893,033...264,899,424
Ensembl chr 1:264,893,162...264,899,423
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Zic3
Zic family member 3
ISO
ClinVar Annotator: match by OMIM:306955 ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar OMIM
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:17295247 PMID:17764085 PMID:18716025 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532
NCBI chr X:140,875,191...140,888,344
Ensembl chr X:140,878,216...140,888,795
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Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
PMID:26531781
NCBI chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
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Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
PMID:25741868 PMID:30532227
NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
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Rai2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chr X:34,731,891...34,794,589
Ensembl chr X:34,731,891...34,794,589
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Rock2
Rho-associated coiled-coil containing protein kinase 2
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chr 6:42,180,864...42,289,910
Ensembl chr 6:42,180,894...42,289,908
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Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chr15:28,574,841...28,611,959
Ensembl chr15:28,575,480...28,611,946
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Zfyve16
zinc finger FYVE-type containing 16
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
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Zic3
Zic family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17127413
NCBI chr X:140,875,191...140,888,344
Ensembl chr X:140,878,216...140,888,795
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Cd209a
CD209a antigen
ISO
mRNA,protein:decreased expression:spleen,liver (mouse)
RGD
PMID:29386115 , PMID:24729611
RGD:39938990 , RGD:39938995
NCBI chr12:2,341,960...2,347,543
Ensembl chr12:2,341,960...2,347,543
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Clec4m
C-type lectin domain family 4 member M
ISO
RGD
PMID:18981244
RGD:39938988
NCBI chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
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Krt18
keratin 18
disease_progression
ISO
protein:increased expression:serum (mouse, human)
RGD
PMID:21357724
RGD:21406434
NCBI chr 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
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Serpinf1
serpin family F member 1
ISO
RGD
PMID:9038736
RGD:30296660
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15877736
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Ap1b1
adaptor related protein complex 1 subunit beta 1
ISS
MouseDO
NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
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Ccdc103
coiled-coil domain containing 103
ISO
ClinVar Annotator: match by term: Kartagener syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 PMID:25741868 PMID:26123568 PMID:27637300 PMID:28492532 PMID:28790179
NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
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Ccdc39
coiled-coil domain containing 39
ISS
MouseDO
NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
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Ccdc40
coiled-coil domain containing 40
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar Annotator: match by term: Kartagener syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:21131974 PMID:28492532 PMID:31443223
NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
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Ccno
cyclin O
ISO
ClinVar Annotator: match by term: Kartagener syndrome ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:24747639 PMID:28492532
NCBI chr 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
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Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24094744 PMID:28492532
NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
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Daw1
dynein assembly factor with WD repeats 1
ISS
MouseDO
NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
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Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:19944400 PMID:19944405
NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23891469 PMID:24307375 PMID:28492532
NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
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Dnaaf2
dynein, axonemal, assembly factor 2
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:19052621 PMID:24498942 PMID:25741868
NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
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Dnaaf3
dynein, axonemal, assembly factor 3
ISO
ClinVar Annotator: match by term: Kartagener syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:10745040 PMID:22387996 PMID:28492532
NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
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Dnaaf4
dynein axonemal assembly factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23872636
NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
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Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:25927852
NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
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Dnah11
dynein, axonemal, heavy chain 11
susceptibility
ISO ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q
MouseDO
PMID:12142464
RGD:734893
NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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Dnah5
dynein, axonemal, heavy chain 5
susceptibility
ISO ISS
DNA:mutations ClinVar Annotator: match by term: Kartagener syndrome ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar MouseDO
PMID:19357118 PMID:19630565 PMID:23477994 PMID:28492532 , PMID:11788826
RGD:1601080
NCBI chr 2:80,947,730...81,143,997 NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
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Dnah8
dynein, axonemal, heavy chain 8
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24307375
NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
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Dnai1
dynein, axonemal, intermediate chain 1
susceptibility
ISO
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S ClinVar Annotator: match by term: Kartagener syndrome ClinVar Annotator: match by term: Primary ciliary dyskinesia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:244400
ClinVar CTD
PMID:10577904 PMID:11231901 PMID:16858015 PMID:18434704 PMID:19675306 PMID:21143860 PMID:21270641 PMID:22416021 PMID:23477994 PMID:24033266 PMID:24498942 PMID:24912412 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28492532 PMID:28939216 PMID:29363216 , PMID:11231901
RGD:1601083
NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
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Dnai2
dynein, axonemal, intermediate chain 2
ISO ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar Annotator: match by term: Kartagener syndrome
ClinVar MouseDO
PMID:18950741
NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
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Dnal1
dynein, axonemal, light chain 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:21496787
NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
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Drc1
dynein regulatory complex subunit 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
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Foxj1
forkhead box J1
ISS
MouseDO
NCBI chr10:105,282,090...105,289,396
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Hydin
Hydin, axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:14985390 PMID:23022101
NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
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LOC691354
hypothetical protein LOC691354
ISS
MouseDO
NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
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Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype:promoter:
RGD
PMID:24753481
RGD:11250592
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mcidas
multiciliate differentiation and DNA synthesis associated cell cycle protein
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:1523039 PMID:8813877 PMID:25048963
NCBI chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
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Odad1
outer dynein arm docking complex subunit 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23261302 PMID:23261303 PMID:25741868 PMID:28492532
NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
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Odad2
outer dynein arm docking complex subunit 2
ISS ISO
ClinVar Annotator: match by term: Kartagener syndrome
MouseDO ClinVar
PMID:23806086 PMID:23849778 PMID:24088041 PMID:25741868 PMID:28492532
NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
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Odad3
outer dynein arm docking complex subunit 3
ISO ISS
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar MouseDO
PMID:25192045 PMID:25224326 PMID:25741868
NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
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Polr2k
RNA polymerase II, I and III subunit K
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24055112
NCBI chr 7:74,939,010...74,992,594
Ensembl chr 7:74,989,223...74,992,582
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Rsph1
radial spoke head component 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:26139845 PMID:28492532
NCBI chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
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Rsph3
radial spoke head 3
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:26073779 PMID:28492532
NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
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Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23798057 PMID:24824133 PMID:25741868 PMID:28492532
NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194 Ensembl chr20:32,450,733...32,467,194
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Slit2
slit guidance ligand 2
ISS
MouseDO
NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
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Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532
NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
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Zmynd10
zinc finger, MYND-type containing 10
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23891469 PMID:23891471 PMID:25741868 PMID:28492532
NCBI chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Meckel syndrome type 7 ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
OMIM ClinVar
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19303681 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532
NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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Creld1
cysteine-rich with EGF-like domains 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome
CTD ClinVar
PMID:12632326 PMID:24697899 PMID:28492532
NCBI chr 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
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Nek8
NIMA-related kinase 8
ISS
OMIM:208540 | OMIM:615415
MouseDO
NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
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Nphp3
nephrocystin 3
ISS
OMIM:208540 | OMIM:615415
MouseDO
NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1
OMIM ClinVar
PMID:8874114 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:28991257
NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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Nek8
NIMA-related kinase 8
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2
OMIM ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:26697755 PMID:26862157 PMID:26967905 PMID:28492532
NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
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Arl2bp
ADP-ribosylation factor like GTPase 2 binding protein
ISO
ClinVar Annotator: match by term: Retinitis pigmentosa 82 with or without situs inversus ClinVar Annotator: match by OMIM:615434
OMIM ClinVar
PMID:23849777 PMID:27790702 PMID:28492532
NCBI chr19:10,753,670...10,763,247
Ensembl chr19:10,753,681...10,763,110
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Acvr2b
activin A receptor type 2B
ISS
OMIM:208530
MouseDO
NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
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Cfc1
cripto, FRL-1, cryptic family 1
ISS
OMIM:208530
MouseDO
NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
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Gdf1
growth differentiation factor 1
ISS
OMIM:208530
MouseDO
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
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Acvr2b
activin A receptor type 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9916847
NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
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Anks6
ankyrin repeat and sterile alpha motif domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23793029
NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
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Cfap52
cilia and flagella associated protein 52
ISO
ClinVar Annotator: match by term: Situs inversus totalis
ClinVar
PMID:28492532
NCBI chr10:54,470,834...54,512,157
Ensembl chr10:54,470,835...54,512,169
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Nodal
nodal growth differentiation factor
ISS
OMIM:270100
MouseDO
NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
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Nphp3
nephrocystin 3
ISO
RGD
PMID:18371931
RGD:11352488
NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Situs inversus totalis
ClinVar
PMID:25741868 PMID:27616478
NCBI chr14:89,047,949...89,193,579
Ensembl chr14:89,060,447...89,179,507
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Zic3
Zic family member 3
ISO
X-linked visceral heterotaxy, OMIM:306955
RGD
PMID:9354794
RGD:1599909
NCBI chr X:140,875,191...140,888,344
Ensembl chr X:140,878,216...140,888,795
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Cd79b
CD79b molecule
ISO
protein:decreased expression:blood, B cell (human)
RGD
PMID:10329919
RGD:11531139
NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26558449
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Acvr2b
activin A receptor type 2B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Heterotaxy syndrome
CTD ClinVar
PMID:9916847
NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
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Anks6
ankyrin repeat and sterile alpha motif domain containing 6
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
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Ap1b1
adaptor related protein complex 1 subunit beta 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
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Bicc1
BicC family RNA binding protein 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Ccdc39
coiled-coil domain containing 39
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
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Cep290
centrosomal protein 290
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Heterotaxy syndrome ClinVar Annotator: match by term: Bilateral right-sidedness sequence ClinVar Annotator: match by term: Heterotaxia ClinVar Annotator: match by term: Asplenia syndrome
ClinVar
PMID:14648004 PMID:17924340 PMID:20413652 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28991257
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
G
Cfap53
cilia and flagella associated protein 53
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
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Cfc1
cripto, FRL-1, cryptic family 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
G
Cplane2
ciliogenesis and planar polarity effector 2
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:159,735,008...159,735,956
Ensembl chr 5:159,734,838...159,742,774
G
Daw1
dynein assembly factor with WD repeats 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
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Dnaaf3
dynein, axonemal, assembly factor 3
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
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Dnah11
dynein, axonemal, heavy chain 11
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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Dnah5
dynein, axonemal, heavy chain 5
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 2:80,947,730...81,143,997 NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
G
Dnai1
dynein, axonemal, intermediate chain 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
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Drc1
dynein regulatory complex subunit 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
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Foxh1
forkhead box H1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Heterotaxia
ClinVar
PMID:25741868
NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Bilateral right-sidedness sequence ClinVar Annotator: match by term: Heterotaxia ClinVar Annotator: match by term: Asplenia syndrome ClinVar Annotator: match by term: Heterotaxy syndrome
OMIM ClinVar
PMID:14648004 PMID:17924340 PMID:20413652 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28991257
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
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Ift74
intraflagellar transport 74
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:113,579,065...113,682,485
Ensembl chr 5:113,592,919...113,682,484
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LOC690352
hypothetical protein LOC690352
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:108,281,908...108,285,008
Ensembl chr14:108,281,907...108,285,008
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LOC691354
hypothetical protein LOC691354
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
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Megf8
multiple EGF-like-domains 8
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
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Mmp21
matrix metallopeptidase 21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Heterotaxia
CTD ClinVar
PMID:24033266 PMID:25741868 PMID:26437028
NCBI chr 1:205,745,119...205,750,786
Ensembl chr 1:205,745,119...205,750,786
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Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Heterotaxy syndrome ClinVar Annotator: match by term: heterotaxia syndrome
ClinVar
PMID:19064609 PMID:25741868 PMID:28492532
NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
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Odad2
outer dynein arm docking complex subunit 2
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
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Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Heterotaxia
ClinVar
PMID:19481195 PMID:25741868
NCBI chr14:89,047,949...89,193,579
Ensembl chr14:89,060,447...89,179,507
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Psme4
proteasome activator subunit 4
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:115,166,165...115,269,041
Ensembl chr14:115,166,416...115,269,056
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Rfx3
regulatory factor X3
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 1:245,853,332...246,110,648
Ensembl chr 1:245,859,633...246,110,218
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Slit2
slit guidance ligand 2
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
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Tbc1d32
TBC1 domain family, member 32
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
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Tdgf1
teratocarcinoma-derived growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11062482
NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
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Tmem67
transmembrane protein 67
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Zic3
Zic family member 3
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr X:140,875,191...140,888,344
Ensembl chr X:140,878,216...140,888,795
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Acaa1a
acetyl-CoA acyltransferase 1A
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:128,027,880...128,036,471
Ensembl chr 8:128,027,958...128,036,236
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Acvr2b
activin A receptor type 2B
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar Annotator: match by OMIM:613751
OMIM ClinVar
PMID:2049719 PMID:9536098 PMID:9916847 PMID:17576681 PMID:21864452 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30622330
NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
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Ctdspl
CTD small phosphatase like
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,065,292...127,726,248
Ensembl chr 8:127,702,534...127,726,127
G
Dlec1
DLEC1 cilia and flagella associated protein
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,788,919...127,835,986
Ensembl chr 8:127,789,048...127,834,637
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Exog
exo/endonuclease G
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:128,133,398...128,153,110
Ensembl chr 8:128,133,431...128,153,110
G
Itga9
integrin subunit alpha 9
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,271,029...127,576,709
Ensembl chr 8:127,271,289...127,572,988
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LOC685081
similar to solute carrier family 22 (organic cation transporter), member 13
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,905,478...127,914,897
Ensembl chr 8:127,909,147...127,912,860
G
Mir26a
microRNA 26a
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
G
Oxsr1
oxidative stress responsive kinase 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,920,349...128,009,951
Ensembl chr 8:127,920,349...128,009,951
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Plcd1
phospholipase C, delta 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
G
Scn10a
sodium voltage-gated channel alpha subunit 10
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
G
Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
G
Slc22a14
solute carrier family 22, member 14
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,858,425...127,871,192
G
Vill
villin-like
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:127,735,233...127,753,313
Ensembl chr 8:127,735,258...127,753,349
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Xylb
xylulokinase
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:128,041,875...128,076,951
Ensembl chr 8:128,044,084...128,076,946
G
Eif4ebp2
eukaryotic translation initiation factor 4E binding protein 2
ISO
ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal
ClinVar
PMID:28492532
NCBI chr20:31,055,292...31,072,469
Ensembl chr20:31,055,789...31,072,469
G
Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar Annotator: match by OMIM:270100
OMIM ClinVar
PMID:9354794 PMID:19064609 PMID:19553149 PMID:22352765 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
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Pald1
phosphatase domain containing, paladin 1
ISO
ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal
ClinVar
PMID:28492532
NCBI chr20:30,938,901...30,983,907
Ensembl chr20:30,938,901...30,975,472
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Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal
ClinVar
PMID:28492532
NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by OMIM:614779 ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal
ClinVar OMIM
PMID:22577226 PMID:25504577 PMID:25741868 PMID:28492532
NCBI chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
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Mmp21
matrix metallopeptidase 21
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal
ClinVar OMIM
PMID:24033266 PMID:25741868 PMID:26437028
NCBI chr 1:205,745,119...205,750,786
Ensembl chr 1:205,745,119...205,750,786
G
Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 8, AUTOSOMAL ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal
ClinVar OMIM
PMID:25741868 PMID:27616478 PMID:28492532
NCBI chr14:89,047,949...89,193,579
Ensembl chr14:89,060,447...89,179,507
G
Mns1
meiosis-specific nuclear structural 1
ISO
ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY
ClinVar OMIM
PMID:30148830
NCBI chr 8:79,054,240...79,075,119
Ensembl chr 8:79,054,237...79,075,122
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Tex9
testis expressed 9
ISO
ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY
ClinVar
PMID:30148830
NCBI chr 8:79,083,449...79,119,621
Ensembl chr 8:79,083,522...79,119,720
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Aicda
activation-induced cytidine deaminase
ISO
mRNA:altered expression:Bcell,CD4Tcell
RGD
PMID:31001826
RGD:32716386
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
G
Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21991751
RGD:5683905
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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Ccr2
C-C motif chemokine receptor 2
ISO
associated with Malnutrition;mRNA:increased expression:lymph node,spleen:
RGD
PMID:24818662
RGD:8661728
G
Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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Ccr5
C-C motif chemokine receptor 5
treatment
ISO
RGD
PMID:24617012
RGD:14401738
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324 , PMID:8035028
RGD:10449527
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22461696 , PMID:23729024
RGD:42724459
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1901333 PMID:7854095 , PMID:3104456 , PMID:27999013
RGD:8158041 , RGD:40890273
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15716043 PMID:17404324 PMID:22461696 , PMID:29745990
RGD:14975172
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il10ra
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
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Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il2rb
interleukin 2 receptor subunit beta
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Irf5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:32038622 , PMID:30067973
RGD:40924560 , RGD:40924629
NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
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Lta
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 , PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Ltb
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr20:5,184,631...5,186,476
Ensembl chr20:5,184,515...5,186,503 Ensembl chr20:5,184,515...5,186,503
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Mbl2
mannose binding lectin 2
disease_progression susceptibility
ISO
protein:increased expression:serum: DNA:SNPs,haplotype:promoter,exon: DNA:polymorphism:promoter:
RGD
PMID:17357060 , PMID:26297290 , PMID:26297290 , PMID:22995279 , PMID:17357060
RGD:8693721 , RGD:11522692 , RGD:11522692 , RGD:8693726 , RGD:8693721
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
G
Mir155
microRNA 155
ISO
RGD
PMID:31182615
RGD:21081525
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
G
Mir21
microRNA 21
treatment
ISO
RGD
PMID:31608064
RGD:40925951
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
G
Nfe2l2
nuclear factor, erythroid 2-like 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
G
RT1-Ba
RT1 class II, locus Ba
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321 , PMID:17067929
RGD:5684944
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
G
Tlr2
toll-like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tnf
tumor necrosis factor
severity
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism
CTD
PMID:1901333 PMID:22461696 , PMID:12438370 , PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all