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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:Splenomegaly
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Accession:DOID:9002720 term browser browse the term
Definition:Enlargement of the spleen.
Synonyms:exact_synonym: Enlarged Spleen
 primary_id: MESH:D013163

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show annotations for term's descendants           Sort by:
Splenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774 		JBrowse link
G Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:24552284 PMID:24552285 PMID:25741868 PMID:27514238 PMID:28492532 NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8692887 NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095479 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27117003 NCBI chrNW_004955407:25,725,259...25,973,582
Ensembl chrNW_004955407:25,722,849...25,974,268 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:586,986...600,299 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20096676 NCBI chrNW_004955438:16,500,219...16,505,394
Ensembl chrNW_004955438:16,500,633...16,501,691 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 More... NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:10676886 RGD:14398737 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chrNW_004955460:13,723,674...13,754,545
Ensembl chrNW_004955460:13,723,777...13,754,150 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:941,620...947,763 JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037 		JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734 		JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:polymorphism:CDS:329C>G, amino acid H92Q
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10870887 PMID:29255069 RGD:1600896 NCBI chrNW_004955414:21,188,012...21,189,363 JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chrNW_004955424:11,255,756...11,259,170
Ensembl chrNW_004955424:11,255,756...11,259,170 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:19060266 RGD:7365027 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO RGD PMID:12219085 RGD:737752 NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001 		JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955442:17,115,207...17,128,899
Ensembl chrNW_004955442:17,117,429...17,127,451 		JBrowse link
G Insl6 insulin like 6 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004955434:9,349,033...9,355,817
Ensembl chrNW_004955434:9,349,142...9,355,739 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G LOC102010322 cytochrome P450 1A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10445756 NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942 		JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955593:911,641...911,919 JBrowse link
G Mapt microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:27117003 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004955448:18,259,847...18,542,085
Ensembl chrNW_004955448:18,259,083...18,439,646 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 susceptibility ISO associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human) RGD PMID:20646002 RGD:5508739 NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25585350 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103 		JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17015055 NCBI chrNW_004955575:163,646...210,379 JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917 		JBrowse link
G Pepd peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470701 NCBI chrNW_004955468:3,147,871...3,277,294
Ensembl chrNW_004955468:3,146,521...3,277,294 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27117003 NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chrNW_004955456:8,773,917...8,782,427 JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:419,696...426,727 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:151,117...158,627
Ensembl chrNW_004955594:151,117...158,627 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chrNW_004955451:16,253,645...16,295,337 JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426 		JBrowse link
G Tyms thymidylate synthetase ISO mRNA, protein:increased expression, increased activity:spleen (rat) RGD PMID:11554613 RGD:5133431 NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368 		JBrowse link
G Vamp7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:20,496...72,648
Ensembl chrNW_004955594:18,727...72,654 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Enlarged Spleen ClinVar NCBI chrNW_004955415:13,791,611...13,813,500
Ensembl chrNW_004955415:13,791,611...13,813,500 		JBrowse link
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha kinase 1 ISO ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chrNW_004955457:14,325,278...14,444,368
Ensembl chrNW_004955457:14,325,281...14,379,937 		JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 susceptibility ISO ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects OMIM
ClinVar		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:12325075 PMID:15622525 More... NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		JBrowse link
Term paths to the root