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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.
Term:splenic disease
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Accession:DOID:2529 term browser browse the term
Definition:Diseases involving the SPLEEN.
Synonyms:exact_synonym: dyssplenism;   spleen disease;   splenic diseases
 primary_id: MESH:D013158
 alt_id: RDO:0000718
 xref: ICD10CM:D73;   ICD9CM:289.50;   NCI:C35823
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
splenic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
dextrocardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
hepatosplenic schistosomiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
hypersplenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G 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 		JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
renal-hepatic-pancreatic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
right atrial isomerism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
splenic marginal zone lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Splenic Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
visceral heterotaxy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Visceral Heterotaxy 4, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 JBrowse link
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 		JBrowse link
G 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 		JBrowse link
Visceral Heterotaxy 5, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Visceral Heterotaxy 6, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Visceral Heterotaxy 7, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Visceral Heterotaxy 8, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
Visceral Heterotaxy 9, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G 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 		JBrowse link
visceral leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      immune system disease 3053
        lymphatic system disease 1186
          splenic disease 132
            Polyasplenia 0
            Splenic Neoplasms + 2
            Splenic Rupture + 0
            Wandering Spleen 0
            chronic congestive splenomegaly 0
            hemangioma of spleen 0
            hepatosplenic schistosomiasis 4
            hypersplenism + 1
            paragonimiasis 0
            splenic abscess 0
            splenic infarction 0
            splenic sequestration 0
            splenic tuberculosis 0
            visceral heterotaxy + 91
            visceral leishmaniasis 32
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Immune & Inflammatory Diseases 3691
        immune system disease 3053
          lymphatic system disease 1186
            splenic disease 132
              Polyasplenia 0
              Splenic Neoplasms + 2
              Splenic Rupture + 0
              Wandering Spleen 0
              chronic congestive splenomegaly 0
              hemangioma of spleen 0
              hepatosplenic schistosomiasis 4
              hypersplenism + 1
              paragonimiasis 0
              splenic abscess 0
              splenic infarction 0
              splenic sequestration 0
              splenic tuberculosis 0
              visceral heterotaxy + 91
              visceral leishmaniasis 32
paths to the root