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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Splenomegaly
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Accession:HP:0001744 term browser browse the term
Definition:Abnormal increased size of the spleen.
Synonyms:exact_synonym: Increased spleen size
 alt_id: HP:0001745;   HP:0006269
 xref: MESH:D013163;   SNOMEDCT_US:16294009;   UMLS:C0038002


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 ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO OMIM:205400 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO OMIM:601847 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO OMIM:602347 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ABCD3 ATP binding cassette subfamily D member 3 IAGP HPO OMIM:616278 NCBI chr 1:94,385,131...94,518,663
Ensembl chr 1:94,418,389...94,518,666 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO OMIM:210250 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO ORPHA:521 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ADA adenosine deaminase IAGP HPO OMIM:102700 ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar
HPO		 PMID:24552284 PMID:24552285 PMID:25741868 PMID:27514238 PMID:28492532 OMIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO OMIM:615010 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO OMIM:616368 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO OMIM:608594 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AKR1D1 aldo-keto reductase family 1 member D1 IAGP HPO OMIM:235555 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO OMIM:176920 ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 IAGP HPO ORPHA:75563 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO OMIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO OMIM:608540 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO OMIM:608776 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALPK1 alpha kinase 1 IAGP HPO OMIM:614979 NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO OMIM:182900 ORPHA:251066 ORPHA:822 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO OMIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO OMIM:617050 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO OMIM:105200 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOC2 apolipoprotein C2 IAGP HPO OMIM:207750 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565 		JBrowse link
G APOE apolipoprotein E IAGP HPO OMIM:269600 ORPHA:158029 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999 		JBrowse link
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO OMIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:228000 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:52416 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar
HPO		 PMID:25741868 OMIM:300972 NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G ATP6AP1-DT ATP6AP1 divergent transcript IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,424,380...154,428,479
Ensembl chr  X:154,424,378...154,428,526 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:3473 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 ORPHA:905 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO OMIM:211600 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:231401 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G B2M beta-2-microglobulin IAGP HPO OMIM:105200 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356 		JBrowse link
G BACH2 BTB domain and CNC homolog 2 IAGP HPO OMIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BCL11A BCL11 transcription factor A IAGP HPO ORPHA:251380 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCL2 BCL2 apoptosis regulator IAGP HPO ORPHA:545 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BCL6 BCL6 transcription repressor IAGP HPO ORPHA:545 NCBI chr 3:187,721,377...187,745,468
Ensembl chr 3:187,721,377...187,745,725 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:521 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G BGN biglycan IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BPGM bisphosphoglycerate mutase IAGP HPO OMIM:222800 NCBI chr 7:134,646,853...134,679,816
Ensembl chr 7:134,646,811...134,679,816 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:115150 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO OMIM:269700 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G BTD biotinidase IAGP HPO OMIM:253260 NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO OMIM:612387 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CALR calreticulin IAGP HPO OMIM:187950 OMIM:254450 ORPHA:131 ORPHA:3318 ORPHA:824 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP DNA:missense mutations:cds:p.E127G, p.G116S
ClinVar Annotator: match by term: Splenomegaly		 HPO
ClinVar
RGD		 PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 More... OMIM:616452, RGD:11100033 NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228 		JBrowse link
G CARD11-AS1 CARD11 antisense RNA 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 More... NCBI chr 7:2,944,035...2,947,087
Ensembl chr 7:2,944,035...2,947,091 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO OMIM:300908 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CASP10 caspase 10 IAGP HPO OMIM:603909 ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CASP8 caspase 8 IAGP HPO OMIM:607271 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CASR calcium sensing receptor IAGP HPO OMIM:239200 ORPHA:417 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CAV1 caveolin 1 IAGP HPO OMIM:612526 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO OMIM:613327 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO OMIM:613563 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:1454 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCDC115 coiled-coil domain containing 115 IAGP HPO OMIM:616828 NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO OMIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:29073 ORPHA:52416 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCNQ cyclin Q IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CD19 CD19 molecule IAGP HPO OMIM:240500 ORPHA:1572 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342 		JBrowse link
G CD27 CD27 molecule IAGP HPO OMIM:615122 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CD28 CD28 molecule IAGP HPO ORPHA:2584 ORPHA:3162 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912 		JBrowse link
G CD40LG CD40 ligand IAGP HPO OMIM:308230 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD81 CD81 molecule IAGP HPO ORPHA:1572 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G CDAN1 codanin 1 IAGP HPO OMIM:224120 NCBI chr15:42,723,544...42,737,128
Ensembl chr15:42,723,544...42,737,128 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 IAGP HPO OMIM:615631 NCBI chr15:36,579,626...36,810,244
Ensembl chr15:36,579,626...36,810,248 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:602271 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO OMIM:611490 OMIM:618541 ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLDN1 claudin 1 IAGP HPO OMIM:607626 ORPHA:59303 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446 		JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO OMIM:619813 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CMC4 C-X9-C motif containing 4 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,061,622...155,071,136
Ensembl chr  X:155,061,622...155,071,136 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO OMIM:613489 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO OMIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO OMIM:608779 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 IAGP HPO OMIM:619046 NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736 		JBrowse link
G COX4I2 cytochrome c oxidase subunit 4I2 IAGP DNA:mutation:cds:c.412G>A (p.E138K)(human) HPO
RGD		 PMID:19268275 OMIM:612714, RGD:11344905 NCBI chr20:31,637,912...31,645,006
Ensembl chr20:31,637,912...31,645,006 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO OMIM:121300 OMIM:618892 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO OMIM:240500 OMIM:614699 ORPHA:1572 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CSF3R colony stimulating factor 3 receptor IAGP HPO OMIM:162830 NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO OMIM:615636 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTAG1A cancer/testis antigen 1A IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,585,133...154,586,816
Ensembl chr  X:154,585,133...154,586,816 		JBrowse link
G CTAG1B cancer/testis antigen 1B IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,617,609...154,619,282
Ensembl chr  X:154,617,609...154,619,282 		JBrowse link
G CTAG2 cancer/testis antigen 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,651,977...154,653,579
Ensembl chr  X:154,651,972...154,653,579 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO OMIM:616100 ORPHA:2584 ORPHA:3162 ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility IAGP DNA:SNP:promoter:g.-251A>T RGD PMID:24076593 RGD:150523788 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP HPO OMIM:233690 ORPHA:379 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO OMIM:306400 ORPHA:379 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO OMIM:618935 ORPHA:379 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO OMIM:613812 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO OMIM:616217 OMIM:617394 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO OMIM:602450 OMIM:603554 ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO OMIM:602557 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO OMIM:251880 OMIM:617068 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO OMIM:270400 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar
HPO		 PMID:25741868 ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO OMIM:616589 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO OMIM:608799 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DUSP9 dual specificity phosphatase 9 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,642,441...153,651,326
Ensembl chr  X:153,642,492...153,651,326 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO OMIM:617088 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 IAGP HPO OMIM:611804 ORPHA:288 NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO OMIM:612690 ORPHA:822 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G EPOR erythropoietin receptor IAGP HPO OMIM:133100 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO OMIM:133180 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:131 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G F8A1 coagulation factor VIII associated 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,886,355...154,888,061
Ensembl chr  X:154,886,355...154,888,061 		JBrowse link
G F8A2 coagulation factor VIII associated 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,382,095...155,383,801
Ensembl chr  X:155,382,095...155,383,801 		JBrowse link
G F8A3 coagulation factor VIII associated 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,456,914...155,458,620
Ensembl chr  X:155,456,914...155,458,620 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO OMIM:276700 ORPHA:882 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G FAM223A family with sequence similarity 223 member A IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,571,248...154,571,960
Ensembl chr  X:154,571,248...154,571,960 		JBrowse link
G FAM223B family with sequence similarity 223 member B IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,632,470...154,633,182
Ensembl chr  X:154,632,470...154,633,182 		JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,506,171...154,516,232
Ensembl chr  X:154,506,159...154,516,242 		JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:601859 ORPHA:117 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO OMIM:601859 ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 IAGP HPO OMIM:619164 NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP HPO OMIM:612840 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FGA fibrinogen alpha chain IAGP HPO OMIM:105200 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 IAGP HPO OMIM:602079 NCBI chr 1:171,090,905...171,117,819
Ensembl chr 1:171,090,901...171,117,819 		JBrowse link
G FOCAD focadhesin IAGP HPO OMIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO OMIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G FUNDC2 FUN14 domain containing 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,026,844...155,060,304
Ensembl chr  X:155,025,980...155,060,304 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO OMIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar
HPO		 PMID:25741868 OMIM:300908 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GAA alpha glucosidase IAGP HPO OMIM:232300 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GAB3 GRB2 associated binding protein 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,675,249...154,751,566
Ensembl chr  X:154,675,249...154,751,583 		JBrowse link
G GALE UDP-galactose-4-epimerase IAGP HPO OMIM:230350 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO OMIM:314050 ORPHA:231393 ORPHA:79277 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GATA2 GATA binding protein 2 IAGP ClinVar Annotator: match by term: Increased spleen size ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:3226 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:230800 OMIM:230900 OMIM:231000 OMIM:231005 OMIM:608013 ORPHA:2072 ORPHA:77259 ORPHA:77260 ORPHA:77261 ORPHA:85212 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO OMIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP HPO OMIM:619463 NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:230500 OMIM:230600 OMIM:230650 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLIS3 GLIS family zinc finger 3 IAGP HPO OMIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G GLRX5 glutaredoxin 5 IAGP HPO OMIM:616860 NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO OMIM:269921 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO OMIM:153670 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPC3 glypican 3 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPD1 glycerol-3-phosphate dehydrogenase 1 IAGP HPO OMIM:614480 NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313 		JBrowse link
G GPI glucose-6-phosphate isomerase IAGP HPO OMIM:613470 NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP HPO OMIM:615947 NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G GYPC glycophorin C (Gerbich blood group) IAGP HPO ORPHA:288 NCBI chr 2:126,656,158...126,696,667
Ensembl chr 2:126,656,133...126,696,667 		JBrowse link
G H2AB1 H2A.B variant histone 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,884,972...154,885,558
Ensembl chr  X:154,884,972...154,885,558 		JBrowse link
G H2AB2 H2A.B variant histone 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,380,709...155,381,299
Ensembl chr  X:155,380,709...155,381,299 		JBrowse link
G H2AB3 H2A.B variant histone 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,459,415...155,460,005
Ensembl chr  X:155,459,415...155,460,005 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO OMIM:613313 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,447,668...153,495,465
Ensembl chr  X:153,447,668...153,495,516 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP HPO OMIM:618398 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO OMIM:613978 ORPHA:163596 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO OMIM:613978 ORPHA:163596 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO OMIM:603902 OMIM:603903 ORPHA:2133 ORPHA:231214 ORPHA:231222 ORPHA:231226 ORPHA:231242 ORPHA:251380 ORPHA:46532 ORPHA:90039 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HBG1 hemoglobin subunit gamma 1 IAGP HPO ORPHA:251380 ORPHA:46532 NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857 		JBrowse link
G HBG2 hemoglobin subunit gamma 2 IAGP HPO ORPHA:251380 ORPHA:46532 NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605 		JBrowse link
G HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G HCFC1-AS1 HCFC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,968,765...153,970,091
Ensembl chr  X:153,969,325...153,970,087 		JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase IAGP HPO OMIM:620296 NCBI chr20:32,052,242...32,101,856
Ensembl chr20:32,052,197...32,101,856 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO OMIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO OMIM:252930 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO OMIM:602390 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:235700 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO OMIM:181000 ORPHA:545 ORPHA:85414 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO OMIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP HPO OMIM:607765 ORPHA:79301 NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO OMIM:240500 OMIM:607594 ORPHA:1572 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,785,768...153,794,375
Ensembl chr  X:153,785,766...153,794,512 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 OMIM:607015 ORPHA:93473 ORPHA:93474 ORPHA:93476 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFNG interferon gamma IAGP HPO OMIM:618963 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO OMIM:209950 ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:615630 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO OMIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IGH immunoglobulin heavy locus IAGP HPO ORPHA:52416 ORPHA:545 NCBI chr14:105,586,437...106,879,844 JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IKZF3 IKAROS family zinc finger 3 IAGP HPO OMIM:619437 NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,718...39,864,312 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 ORPHA:186 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:186 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO OMIM:612852 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO OMIM:618495 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL6 interleukin 6 IAGP HPO ORPHA:85414 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO OMIM:608971 ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G IL9R interleukin 9 receptor IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,997,696...156,013,020
NCBI chr  Y:57,184,072...57,197,869
Ensembl chr  Y:57,184,216...57,197,337
Ensembl chr  X:57,184,216...57,197,337 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:1454 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:2746 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:1572 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178 		JBrowse link
G IRF4 interferon regulatory factor 4 IAGP HPO ORPHA:3452 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:186 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G IRF8 interferon regulatory factor 8 IAGP HPO OMIM:226990 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO OMIM:613385 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G ITK IL2 inducible T cell kinase IAGP HPO OMIM:613011 NCBI chr 5:157,180,840...157,255,185
Ensembl chr 5:157,142,933...157,255,185 		JBrowse link
G JAK2 Janus kinase 2 IAGP ClinVar Annotator: match by term: Splenomegaly HPO
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... OMIM:133100 OMIM:254450 OMIM:263300 ORPHA:131 ORPHA:3318 ORPHA:71493 ORPHA:729 ORPHA:824 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO OMIM:135500 ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO ORPHA:3473 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO OMIM:616689 ORPHA:3202 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP HPO OMIM:613673 ORPHA:251380 ORPHA:46532 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757 		JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO OMIM:615637 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:614470 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G L1CAM-AS1 L1CAM antisense RNA 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,880,672...153,888,990
Ensembl chr  X:153,880,672...153,888,990 		JBrowse link
G LACC1 laccase domain containing 1 IAGP HPO ORPHA:85414 NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G LAGE3 L antigen family member 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAT linker for activation of T cells IAGP HPO OMIM:617514 NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase IAGP HPO ORPHA:79292 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:39041 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LIPA lipase A, lysosomal acid type IAGP HPO OMIM:278000 OMIM:620151 ORPHA:75233 ORPHA:75234 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:2348 ORPHA:280365 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC101927830 uncharacterized LOC101927830 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,347,137...155,374,174 JBrowse link
G LOC106146143 int1h-1 recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,006,107...155,007,182 JBrowse link
G LOC106146144 int1h-2 recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,147,688...155,149,673 JBrowse link
G LOC106146150 int22h-1 recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,880,819...154,890,330 JBrowse link
G LOC106146151 int22h-2 recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,376,510...155,386,062 JBrowse link
G LOC106146152 int22h-3 recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,454,648...155,464,204 JBrowse link
G LOC107181288 origin of replication in promoter of G6PD IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,546,511...154,547,759 JBrowse link
G LOC107522039 meiotic recombination hotspot PAR2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,764,858...155,769,660
NCBI chr  Y:56,951,378...56,956,180 		JBrowse link
G LOC107838685 meiotic recombination hotspot PAR2A IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,747,397...155,751,379
NCBI chr  Y:56,933,917...56,937,899 		JBrowse link
G LOC107988021 IKBKG recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,556,498...154,558,301 JBrowse link
G LOC107988022 IKBKG downstream recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,568,820...154,569,698 JBrowse link
G LOC107988024 IKBKGP1 recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,646,128...154,647,897 JBrowse link
G LOC107988025 IKBKGP1 upstream recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,634,732...154,635,610 JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,335,912...154,349,572 JBrowse link
G LOC107988033 Xq28 distal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,383,318...154,396,246 JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 JBrowse link
G LOC111365170 NFE2L2 motif-containing MPRA enhancer 190/191 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,002,271...154,002,417 JBrowse link
G LOC111589209 HNF4 motif-containing MPRA enhancer 232 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,626,998...153,627,142 JBrowse link
G LOC113875014 Sharpr-MPRA regulatory region 9358 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,470,628...153,471,105 JBrowse link
G LOC113875015 Sharpr-MPRA regulatory region 12525 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,719,354...154,719,648 JBrowse link
G LOC113875016 H3K27ac hESC enhancer GRCh37_chrX:154444390-154445178 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,216,113...155,216,901 JBrowse link
G LOC116309161 CRISPRi-validated cis-regulatory element chrX.2654 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,800,709...153,800,983 JBrowse link
G LOC116309162 CRISPRi-validated cis-regulatory element chrX.2695 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,985,283...153,986,017 JBrowse link
G LOC121627985 Sharpr-MPRA regulatory region 11639 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,529,334...154,529,628 JBrowse link
G LOC121627986 H3K4me1 hESC enhancer GRCh37_chrX:154285543-154286044 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,057,268...155,057,769 JBrowse link
G LOC121853071 Sharpr-MPRA regulatory region 5891 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,708,414...153,708,708 JBrowse link
G LOC121853072 Sharpr-MPRA regulatory region 3405 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,472,206...154,472,500 JBrowse link
G LOC125467793 Sharpr-MPRA regulatory region 3572 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,136,674...154,136,968 JBrowse link
G LOC125467794 Sharpr-MPRA regulatory region 13577 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,730,754...154,731,048 JBrowse link
G LOC125467795 Sharpr-MPRA regulatory region 4209 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,007,074...155,007,368 JBrowse link
G LOC126863349 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:154195537-154196736 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,967,262...154,968,461 JBrowse link
G LOC129929050 ATAC-STARR-seq lymphoblastoid active region 30056 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,347,494...154,347,633 JBrowse link
G LOC129929051 ATAC-STARR-seq lymphoblastoid active region 30057 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,347,664...154,347,753 JBrowse link
G LOC129929052 ATAC-STARR-seq lymphoblastoid silent region 21114 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,546,728...154,547,287 JBrowse link
G LOC130068821 ATAC-STARR-seq lymphoblastoid active region 30033 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,469,868...153,470,047 JBrowse link
G LOC130068822 ATAC-STARR-seq lymphoblastoid active region 30034 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,470,198...153,470,297 JBrowse link
G LOC130068823 ATAC-STARR-seq lymphoblastoid active region 30035 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,507,438...153,507,537 JBrowse link
G LOC130068824 ATAC-STARR-seq lymphoblastoid active region 30036 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,507,618...153,507,667 JBrowse link
G LOC130068825 ATAC-STARR-seq lymphoblastoid silent region 21064 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,598,850...153,599,209 JBrowse link
G LOC130068826 ATAC-STARR-seq lymphoblastoid silent region 21065 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,599,220...153,599,269 JBrowse link
G LOC130068827 ATAC-STARR-seq lymphoblastoid silent region 21066 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,599,370...153,599,509 JBrowse link
G LOC130068828 ATAC-STARR-seq lymphoblastoid silent region 21067 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,609,979...153,610,088 JBrowse link
G LOC130068829 ATAC-STARR-seq lymphoblastoid silent region 21068 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,669,489...153,669,538 JBrowse link
G LOC130068830 ATAC-STARR-seq lymphoblastoid silent region 21069 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,723,666...153,723,845 JBrowse link
G LOC130068831 ATAC-STARR-seq lymphoblastoid silent region 21070 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,724,056...153,725,015 JBrowse link
G LOC130068832 ATAC-STARR-seq lymphoblastoid active region 30037 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,726,574...153,726,863 JBrowse link
G LOC130068833 ATAC-STARR-seq lymphoblastoid active region 30038 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,727,134...153,727,293 JBrowse link
G LOC130068834 ATAC-STARR-seq lymphoblastoid active region 30039 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,727,314...153,727,483 JBrowse link
G LOC130068835 ATAC-STARR-seq lymphoblastoid silent region 21072 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,819,045...153,819,204 JBrowse link
G LOC130068836 ATAC-STARR-seq lymphoblastoid active region 30041 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,879,535...153,879,594 JBrowse link
G LOC130068837 ATAC-STARR-seq lymphoblastoid active region 30042 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,924,431...153,924,560 JBrowse link
G LOC130068838 ATAC-STARR-seq lymphoblastoid silent region 21073 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,926,019...153,926,608 JBrowse link
G LOC130068839 ATAC-STARR-seq lymphoblastoid silent region 21074 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,928,019...153,928,578 JBrowse link
G LOC130068840 ATAC-STARR-seq lymphoblastoid silent region 21075 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,934,727...153,935,306 JBrowse link
G LOC130068841 ATAC-STARR-seq lymphoblastoid active region 30043 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,944,486...153,944,615 JBrowse link
G LOC130068842 ATAC-STARR-seq lymphoblastoid active region 30044 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,953,453...153,953,692 JBrowse link
G LOC130068843 ATAC-STARR-seq lymphoblastoid active region 30045 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,970,189...153,970,428 JBrowse link
G LOC130068844 ATAC-STARR-seq lymphoblastoid silent region 21077 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,971,899...153,972,138 JBrowse link
G LOC130068845 ATAC-STARR-seq lymphoblastoid silent region 21078 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,972,369...153,972,818 JBrowse link
G LOC130068846 ATAC-STARR-seq lymphoblastoid silent region 21079 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,972,929...153,973,038 JBrowse link
G LOC130068847 ATAC-STARR-seq lymphoblastoid active region 30047 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,980,474...153,980,583 JBrowse link
G LOC130068848 ATAC-STARR-seq lymphoblastoid active region 30048 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,984,391...153,984,440 JBrowse link
G LOC130068849 ATAC-STARR-seq lymphoblastoid silent region 21080 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,019,272...154,019,341 JBrowse link
G LOC130068850 ATAC-STARR-seq lymphoblastoid silent region 21081 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,019,352...154,019,451 JBrowse link
G LOC130068851 ATAC-STARR-seq lymphoblastoid active region 30052 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,020,952...154,021,021 JBrowse link
G LOC130068852 ATAC-STARR-seq lymphoblastoid active region 30053 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,096,733...154,096,822 JBrowse link
G LOC130068853 ATAC-STARR-seq lymphoblastoid silent region 21083 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,097,143...154,097,222 JBrowse link
G LOC130068854 ATAC-STARR-seq lymphoblastoid silent region 21085 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,097,643...154,098,002 JBrowse link
G LOC130068855 ATAC-STARR-seq lymphoblastoid active region 30055 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,334,073...154,334,292 JBrowse link
G LOC130068856 ATAC-STARR-seq lymphoblastoid silent region 21086 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,369,426...154,369,505 JBrowse link
G LOC130068857 ATAC-STARR-seq lymphoblastoid silent region 21087 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,370,446...154,370,745 JBrowse link
G LOC130068858 ATAC-STARR-seq lymphoblastoid silent region 21093 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,372,909...154,372,968 JBrowse link
G LOC130068859 ATAC-STARR-seq lymphoblastoid active region 30059 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,373,372...154,373,421 JBrowse link
G LOC130068860 ATAC-STARR-seq lymphoblastoid silent region 21094 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,374,511...154,374,570 JBrowse link
G LOC130068861 ATAC-STARR-seq lymphoblastoid silent region 21095 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,374,581...154,374,720 JBrowse link
G LOC130068862 ATAC-STARR-seq lymphoblastoid silent region 21096 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,378,386...154,378,515 JBrowse link
G LOC130068863 ATAC-STARR-seq lymphoblastoid silent region 21097 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,378,536...154,378,955 JBrowse link
G LOC130068864 ATAC-STARR-seq lymphoblastoid silent region 21098 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,378,966...154,379,265 JBrowse link
G LOC130068865 ATAC-STARR-seq lymphoblastoid silent region 21099 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,397,420...154,397,599 JBrowse link
G LOC130068866 ATAC-STARR-seq lymphoblastoid silent region 21100 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,397,670...154,397,739 JBrowse link
G LOC130068867 ATAC-STARR-seq lymphoblastoid active region 30060 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,398,300...154,398,509 JBrowse link
G LOC130068868 ATAC-STARR-seq lymphoblastoid active region 30061 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,402,470...154,402,669 JBrowse link
G LOC130068869 ATAC-STARR-seq lymphoblastoid silent region 21101 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,411,526...154,412,065 JBrowse link
G LOC130068870 ATAC-STARR-seq lymphoblastoid silent region 21104 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,444,329...154,444,538 JBrowse link
G LOC130068871 ATAC-STARR-seq lymphoblastoid silent region 21105 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,444,549...154,444,638 JBrowse link
G LOC130068872 ATAC-STARR-seq lymphoblastoid active region 30062 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,457,689...154,457,758 JBrowse link
G LOC130068873 ATAC-STARR-seq lymphoblastoid silent region 21106 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,457,849...154,458,018 JBrowse link
G LOC130068874 ATAC-STARR-seq lymphoblastoid silent region 21107 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,458,149...154,458,388 JBrowse link
G LOC130068875 ATAC-STARR-seq lymphoblastoid silent region 21108 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,458,629...154,458,698 JBrowse link
G LOC130068876 ATAC-STARR-seq lymphoblastoid silent region 21109 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,478,675...154,478,894 JBrowse link
G LOC130068877 ATAC-STARR-seq lymphoblastoid active region 30063 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,481,991...154,482,050 JBrowse link
G LOC130068878 ATAC-STARR-seq lymphoblastoid active region 30064 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,487,159...154,487,218 JBrowse link
G LOC130068879 ATAC-STARR-seq lymphoblastoid silent region 21112 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,490,352...154,490,861 JBrowse link
G LOC130068880 ATAC-STARR-seq lymphoblastoid active region 30065 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,526,844...154,526,993 JBrowse link
G LOC130068881 ATAC-STARR-seq lymphoblastoid active region 30067 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,547,728...154,548,007 JBrowse link
G LOC130068882 ATAC-STARR-seq lymphoblastoid silent region 21115 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,715,096...154,715,205 JBrowse link
G LOC130068883 ATAC-STARR-seq lymphoblastoid silent region 21116 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,750,723...154,750,782 JBrowse link
G LOC130068884 ATAC-STARR-seq lymphoblastoid silent region 21117 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,750,953...154,751,032 JBrowse link
G LOC130068885 ATAC-STARR-seq lymphoblastoid active region 30068 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,762,485...154,762,544 JBrowse link
G LOC130068886 ATAC-STARR-seq lymphoblastoid silent region 21118 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,762,645...154,762,944 JBrowse link
G LOC130068887 ATAC-STARR-seq lymphoblastoid active region 30069 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,763,295...154,763,394 JBrowse link
G LOC130068888 ATAC-STARR-seq lymphoblastoid silent region 21119 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,805,450...154,805,609 JBrowse link
G LOC130068889 ATAC-STARR-seq lymphoblastoid active region 30070 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,827,852...154,827,931 JBrowse link
G LOC130068890 ATAC-STARR-seq lymphoblastoid active region 30071 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,827,952...154,828,001 JBrowse link
G LOC130068891 ATAC-STARR-seq lymphoblastoid active region 30072 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,980,910...154,980,959 JBrowse link
G LOC130068892 ATAC-STARR-seq lymphoblastoid active region 30073 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,981,060...154,981,109 JBrowse link
G LOC130068893 ATAC-STARR-seq lymphoblastoid silent region 21120 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,026,665...155,026,754 JBrowse link
G LOC130068894 ATAC-STARR-seq lymphoblastoid silent region 21121 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,027,025...155,027,344 JBrowse link
G LOC130068895 ATAC-STARR-seq lymphoblastoid active region 30074 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,070,764...155,071,063 JBrowse link
G LOC130068896 ATAC-STARR-seq lymphoblastoid silent region 21124 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,264,269...155,264,478 JBrowse link
G LOC130068897 ATAC-STARR-seq lymphoblastoid silent region 21125 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,264,489...155,264,538 JBrowse link
G LOC130068898 ATAC-STARR-seq lymphoblastoid active region 30078 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,632,598...155,632,647 JBrowse link
G LPIN2 lipin 2 IAGP HPO ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LPL lipoprotein lipase IAGP HPO OMIM:238600 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO OMIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO OMIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO OMIM:214500 ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G LYZ lysozyme IAGP HPO OMIM:105200 NCBI chr12:69,348,381...69,354,234
Ensembl chr12:69,348,381...69,354,234 		JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO OMIM:300853 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO OMIM:248500 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MCM4 minichromosome maintenance complex component 4 IAGP HPO OMIM:609981 NCBI chr 8:47,960,941...47,978,160
Ensembl chr 8:47,960,185...47,978,160 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO OMIM:249100 ORPHA:117 ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO OMIM:615673 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:85414 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MIR1184-1 microRNA 1184-1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,887,360...154,887,458
Ensembl chr  X:154,887,360...154,887,458 		JBrowse link
G MIR1184-2 microRNA 1184-2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,383,100...155,383,198
Ensembl chr  X:155,383,100...155,383,198 		JBrowse link
G MIR1184-3 microRNA 1184-3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,457,517...155,457,615
Ensembl chr  X:155,457,517...155,457,615 		JBrowse link
G MIR3202-1 microRNA 3202-1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,981,097...153,981,177
Ensembl chr  X:153,981,097...153,981,177 		JBrowse link
G MIR3202-2 microRNA 3202-2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,981,098...153,981,176
Ensembl chr  X:153,981,098...153,981,176 		JBrowse link
G MIR664B microRNA 664b IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,768,596...154,768,656
Ensembl chr  X:154,768,596...154,768,656 		JBrowse link
G MIR6858 microRNA 6858 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,450,320...154,450,386
Ensembl chr  X:154,450,320...154,450,386 		JBrowse link
G MIR718 microRNA 718 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,019,920...154,019,989
Ensembl chr  X:154,019,920...154,019,989 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP HPO ORPHA:186 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MPIG6B megakaryocyte and platelet inhibitory receptor G6b IAGP HPO OMIM:617441 NCBI chr 6:31,720,296...31,726,714
Ensembl chr 6:31,718,594...31,726,714 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO OMIM:254450 ORPHA:3318 ORPHA:71493 ORPHA:729 ORPHA:824 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,778,684...154,805,485
Ensembl chr  X:154,778,684...154,821,007 		JBrowse link
G MRFAP1P1 MRFAP1 pseudogene 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,599,340...153,599,893
Ensembl chr  X:153,599,315...153,613,937 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO ORPHA:1572 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MTCP1 mature T cell proliferation 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,064,034...155,071,136
Ensembl chr  X:155,064,034...155,147,937 		JBrowse link
G MVK mevalonate kinase IAGP HPO OMIM:260920 ORPHA:29 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO ORPHA:33226 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G MYO5B myosin VB IAGP HPO OMIM:619868 NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO OMIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO OMIM:252920 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO OMIM:139090 ORPHA:721 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO OMIM:233700 ORPHA:379 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO OMIM:233710 ORPHA:379 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO ORPHA:379 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO OMIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO OMIM:256550 ORPHA:812 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO ORPHA:1572 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:1572 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO OMIM:612132 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP HPO OMIM:616050 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO OMIM:617388 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP HPO OMIM:611762 NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:1451 ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) HPO
RGD		 PMID:20646002 ORPHA:90340, RGD:5508739 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO OMIM:616028 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP HPO OMIM:257220 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP HPO OMIM:607625 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO OMIM:208540 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:614470 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G OAS1 2'-5'-oligoadenylate synthetase 1 IAGP HPO OMIM:618042 NCBI chr12:112,906,962...112,933,219
Ensembl chr12:112,905,856...112,933,219 		JBrowse link
G OCLN occludin IAGP HPO OMIM:251290 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286 		JBrowse link
G OPN1MW3 opsin 1, medium wave sensitive 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,257,582...154,271,090
Ensembl chr  X:154,257,582...154,271,090 		JBrowse link
G OPSIN-LCR opsin locus control region IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,137,727...154,144,286 JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO OMIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTC ornithine transcarbamylase IAGP HPO ORPHA:664 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO OMIM:607685 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDZD4 PDZ domain containing 4 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,802,166...153,830,544
Ensembl chr  X:153,802,166...153,830,565 		JBrowse link
G PEPD peptidase D IAGP HPO OMIM:170100 ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO OMIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO ORPHA:773 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO OMIM:306000 ORPHA:264580 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO OMIM:261750 ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO OMIM:613027 ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO ORPHA:773 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP HPO OMIM:617767 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO OMIM:194380 OMIM:616843 ORPHA:3202 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M IAGP HPO OMIM:610293 NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO OMIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:612918 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO OMIM:615513 ORPHA:397596 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO OMIM:619802 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO OMIM:616005 ORPHA:397596 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO OMIM:263200 ORPHA:53035 ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PKLR pyruvate kinase L/R IAGP HPO OMIM:266200 ORPHA:766 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO OMIM:618107 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779 		JBrowse link
G PLXNB3 plexin B3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,764,249...153,779,341
Ensembl chr  X:153,764,196...153,779,346 		JBrowse link
G PLXNB3-AS1 PLXNB3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,758,067...153,766,526 JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,669,733...153,687,771
Ensembl chr  X:153,669,733...153,689,010 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO OMIM:613179 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO OMIM:610717 ORPHA:565612 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POT1 protection of telomeres 1 IAGP HPO OMIM:620367 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 IAGP HPO ORPHA:186 NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PRF1 perforin 1 IAGP HPO OMIM:603553 ORPHA:540 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 ORPHA:1572 ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PSAP prosaposin IAGP HPO OMIM:610539 OMIM:611721 ORPHA:139406 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PSMB10 proteasome 20S subunit beta 10 IAGP HPO OMIM:619175 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP HPO OMIM:617591 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO OMIM:617591 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP HPO OMIM:619183 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO OMIM:605309 ORPHA:2969 ORPHA:397596 ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP HPO ORPHA:79477 NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G RAG1 recombination activating 1 IAGP HPO OMIM:603554 ORPHA:231154 ORPHA:39041 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP HPO OMIM:603554 ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO OMIM:618534 ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO OMIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G RENBP renin binding protein IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,935,269...153,944,643
Ensembl chr  X:153,935,269...153,944,687 		JBrowse link
G RHAG Rh associated glycoprotein IAGP HPO OMIM:185000 ORPHA:3203 NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839 		JBrowse link
G RHD Rh blood group D antigen IAGP HPO OMIM:619462 NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445 		JBrowse link
G RINT1 RAD50 interactor 1 IAGP HPO OMIM:618641 NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677 		JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO OMIM:618852 NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO OMIM:610333 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNF31 ring finger protein 31 IAGP HPO OMIM:620632 NCBI chr14:24,146,875...24,160,655
Ensembl chr14:24,146,683...24,160,660 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:616651 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RORC RAR related orphan receptor C IAGP HPO OMIM:616622 NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:1454 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPL10 ribosomal protein L10 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:521 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP HPO OMIM:616719 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO OMIM:224100 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO OMIM:613490 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP HPO ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO OMIM:252900 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO OMIM:133100 OMIM:187950 OMIM:254450 ORPHA:3318 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO OMIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO OMIM:222470 ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,487,311...154,490,629
Ensembl chr  X:154,487,306...154,490,690 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO OMIM:269920 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP HPO OMIM:620603 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO OMIM:608885 OMIM:612126 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Increased spleen size ClinVar
HPO		 PMID:10923042 PMID:12444104 PMID:15669677 PMID:17994282 PMID:26913919 More... OMIM:232220 OMIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO OMIM:201100 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO OMIM:185020 OMIM:612653 ORPHA:3202 ORPHA:822 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO OMIM:222700 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SMIM9 small integral membrane protein 9 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,823,348...154,834,662
Ensembl chr  X:154,823,348...154,834,662 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO OMIM:257200 OMIM:607616 ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SNORA36A small nucleolar RNA, H/ACA box 36A IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,768,528...154,768,659
Ensembl chr  X:154,768,528...154,768,659 		JBrowse link
G SNORA56 small nucleolar RNA, H/ACA box 56 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,774,998...154,775,126
Ensembl chr  X:154,774,998...154,775,126 		JBrowse link
G SNORA70 small nucleolar RNA, H/ACA box 70 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,400,281...154,400,415
Ensembl chr  X:154,400,281...154,400,415 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO OMIM:615085 ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO OMIM:616354 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP HPO OMIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:163746 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SPIB Spi-B transcription factor IAGP HPO ORPHA:186 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314 		JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,612,586...155,782,459
NCBI chr  Y:56,923,423...56,968,979
Ensembl chr  X:155,612,572...155,782,459 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP HPO ORPHA:288 ORPHA:822 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP HPO OMIM:616649 ORPHA:288 ORPHA:822 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO OMIM:614162 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STEAP3 STEAP3 metalloreductase IAGP HPO OMIM:615234 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO OMIM:612783 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G STX11 syntaxin 11 IAGP HPO OMIM:603552 ORPHA:540 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO OMIM:613101 ORPHA:540 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO OMIM:272200 ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP HPO OMIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TALDO1 transaldolase 1 IAGP HPO OMIM:606003 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO OMIM:188400 ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO ORPHA:1802 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TCF3 transcription factor 3 IAGP HPO OMIM:619824 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO OMIM:259700 ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:3318 ORPHA:729 ORPHA:75564 ORPHA:824 ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TEX28 testis expressed 28 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,271,265...154,295,211
Ensembl chr  X:154,271,265...154,295,853 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G THPO thrombopoietin IAGP HPO OMIM:187950 ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TKTL1 transketolase like 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,295,795...154,330,350
Ensembl chr  X:154,295,795...154,330,350 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO OMIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TMEM187 transmembrane protein 187 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,972,754...153,983,194
Ensembl chr  X:153,972,754...153,983,194 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:216360 ORPHA:1454 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098 		JBrowse link
G TMLHE-AS1 TMLHE antisense RNA 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,466,540...155,494,110
Ensembl chr  X:155,466,540...155,611,616 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO OMIM:612301 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO OMIM:240500 ORPHA:1572 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO OMIM:240500 ORPHA:1572 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:32960 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP HPO ORPHA:2584 ORPHA:3162 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP HPO OMIM:615593 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 IAGP HPO OMIM:620282 NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP HPO ORPHA:1572 NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890 		JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP HPO ORPHA:186 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039 		JBrowse link
G TNPO3 transportin 3 IAGP HPO ORPHA:186 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:3318 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP HPO OMIM:615512 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP HPO ORPHA:444463 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		JBrowse link
G TRAC T cell receptor alpha constant IAGP HPO OMIM:615387 NCBI chr14:22,547,506...22,552,132
Ensembl chr14:22,547,506...22,552,156 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TREX2 three prime repair exonuclease 2 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:153,444,473...153,446,056
Ensembl chr  X:153,444,473...153,470,587 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO OMIM:616084 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO ORPHA:417 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		JBrowse link
G UBL4A ubiquitin like 4A IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:154,483,717...154,486,615
Ensembl chr  X:154,483,717...154,486,615 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO OMIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP HPO ORPHA:30 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO ORPHA:540 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G UROD uroporphyrinogen decarboxylase IAGP HPO ORPHA:95159 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO OMIM:263700 ORPHA:79277 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO OMIM:604173 ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G USP53 ubiquitin specific peptidase 53 IAGP HPO OMIM:619658 NCBI chr 4:119,212,601...119,295,518
Ensembl chr 4:119,212,587...119,295,518 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G VBP1 VHL binding protein 1 IAGP ClinVar Annotator: match by term: Splenomegaly ClinVar PMID:25741868 NCBI chr  X:155,197,007...155,239,841
Ensembl chr  X:155,197,007...155,239,841 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO OMIM:620010 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
G VPS45 vacuolar protein sorting 45 homolog IAGP HPO OMIM:615285 NCBI chr 1:150,067,382...150,145,329
Ensembl chr 1:150,067,279...150,145,329 		JBrowse link
G WDR1 WD repeat domain 1 IAGP HPO OMIM:150550 NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO OMIM:613610 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO OMIM:300635 OMIM:308240 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP HPO OMIM:300842 NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO OMIM:619418 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G YME1L1 YME1 like 1 ATPase IAGP HPO OMIM:617302 NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,111...27,155,266 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO OMIM:269840 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
G ZFYVE19 zinc finger FYVE-type containing 19 IAGP HPO OMIM:619849 NCBI chr15:40,807,089...40,815,084
Ensembl chr15:40,807,086...40,815,084 		JBrowse link
Fluctuating splenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVK mevalonate kinase IAGP HPO OMIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP HPO OMIM:619220 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		JBrowse link
Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO ORPHA:31150 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCA12 ATP binding cassette subfamily A member 12 IAGP HPO OMIM:601277 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO OMIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO OMIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:2590 ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98850 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:1333 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:1333 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO OMIM:259730 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:824 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CAV1 caveolin 1 IAGP HPO OMIM:612526 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Hepatosplenomegaly ClinVar
HPO		 PMID:20619386 PMID:24493670 PMID:25178484 PMID:25741868 PMID:28492532 More... OMIM:613563 ORPHA:98850 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCDC115 coiled-coil domain containing 115 IAGP HPO OMIM:616828 NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:169160 ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CD27 CD27 molecule IAGP HPO OMIM:615122 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP HPO ORPHA:169160 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP HPO ORPHA:169160 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CD70 CD70 molecule IAGP HPO OMIM:618261 NCBI chr19:6,581,648...6,591,150
Ensembl chr19:6,583,183...6,604,103 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1333 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO OMIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:210110 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO ORPHA:263501 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO ORPHA:79333 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP associated with Immunologic Deficiency Syndromes;DNA:splice site,nonsense, missense mutations:cds, splice junction: RGD PMID:25329329 RGD:11053601 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTSA cathepsin A IAGP HPO OMIM:256540 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO OMIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO ORPHA:79302 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO ORPHA:84081 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP HPO ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP HPO OMIM:619858 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO OMIM:617610 ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP associated with liver disease;DNA:missense mutation:cds:p.R142G RGD PMID:27397503 RGD:14401587 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP HPO OMIM:619013 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FERMT3 FERM domain containing kindlin 3 IAGP HPO OMIM:612840 NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:614592 ORPHA:313855 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO OMIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GALK1 galactokinase 1 IAGP HPO ORPHA:79237 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:608013 ORPHA:2072 ORPHA:77259 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP HPO OMIM:232500 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:33574 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLRX5 glutaredoxin 5 IAGP HPO OMIM:616860 NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:3166 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP HPO ORPHA:86884 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231222 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO OMIM:268800 ORPHA:309155 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP HPO ORPHA:541423 NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFNG interferon gamma IAGP HPO OMIM:618963 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO OMIM:209950 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:301081 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO OMIM:606367 ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:619750 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:169154 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G JAK1 Janus kinase 1 IAGP HPO OMIM:618999 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:824 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JAK3 Janus kinase 3 IAGP HPO ORPHA:35078 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KIF3B kinesin family member 3B IAGP HPO OMIM:618955 NCBI chr20:32,277,651...32,335,011
Ensembl chr20:32,277,651...32,335,011 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP HPO OMIM:613673 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO ORPHA:397612 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1333 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LIPA lipase A, lysosomal acid type IAGP HPO OMIM:278000 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
G LPIN2 lipin 2 IAGP HPO OMIM:609628 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LPL lipoprotein lipase IAGP HPO OMIM:238600 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO OMIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 ORPHA:309288 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO OMIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP HPO ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:824 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MVK mevalonate kinase IAGP HPO OMIM:260920 OMIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP ClinVar Annotator: match by term: Enlarged liver and spleen ClinVar PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NCKAP1L NCK associated protein 1 like IAGP HPO OMIM:618982 NCBI chr12:54,497,752...54,548,243
Ensembl chr12:54,497,752...54,548,243 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:93399 ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO OMIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:607115 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO OMIM:267010 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO OMIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:1333 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP HPO ORPHA:1333 NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO OMIM:614885 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO OMIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO OMIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO OMIM:619802 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO ORPHA:210110 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G PRF1 perforin 1 IAGP HPO OMIM:603553 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO OMIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP HPO OMIM:619924 NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP HPO OMIM:607624 NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP HPO ORPHA:1333 NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO OMIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RAG1 recombination activating 1 IAGP HPO ORPHA:331206 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP HPO ORPHA:331206 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO OMIM:618534 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RHAG Rh associated glycoprotein IAGP HPO ORPHA:71275 NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839 		JBrowse link
G RHCE Rh blood group CcEe antigens IAGP HPO ORPHA:71275 NCBI chr 1:25,362,249...25,430,203
Ensembl chr 1:25,362,249...25,430,192 		JBrowse link
G RHD Rh blood group D antigen IAGP HPO ORPHA:71275 NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO OMIM:610333 ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO OMIM:610329 ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:98850 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP HPO ORPHA:466794 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO ORPHA:247598 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:168577 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO OMIM:611590 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:1333 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO OMIM:609136 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO ORPHA:79124 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98850 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STEAP3 STEAP3 metalloreductase IAGP HPO ORPHA:300298 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO OMIM:613101 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G TALDO1 transaldolase 1 IAGP HPO OMIM:606003 ORPHA:101028 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:210110 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO OMIM:619126 ORPHA:824 ORPHA:98850 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO OMIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:219700 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:84081 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP ClinVar Annotator: match by term: Hepatosplenomegaly ClinVar PMID:25741868 PMID:28492532 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO OMIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1333 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TULP3 TUB like protein 3 IAGP HPO OMIM:619902 NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138 		JBrowse link
G UNC13D unc-13 homolog D susceptibility IAGP DNA:deletions, insertion, snps:exons, intron:multiple HPO
RGD		 PMID:14622600 OMIM:608898, RGD:1600451 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the digestive system 4683
        Abnormal abdomen morphology 1029
          Visceromegaly 964
            Splenomegaly 689
              Fluctuating splenomegaly 2
              Hepatosplenomegaly 169
Path 2
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the cardiovascular system 3985
        Abnormality of the vasculature 2416
          Abnormality of the lymphatic system 996
            Abnormality of the spleen 834
              Abnormal spleen morphology 807
                Splenomegaly 689
                  Fluctuating splenomegaly 2
                  Hepatosplenomegaly 169
paths to the root