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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:Abnormal spleen morphology
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Accession:HP:0025408 term browser browse the term
Definition:Any anomaly of the structure of the spleen.
Synonyms:related_synonym: Splenic lesion



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Abnormal spleen morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin IAGP ORPHA:85448 HPO NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G RARB retinoic acid receptor beta IAGP ORPHA:2470 HPO NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP ORPHA:2470 HPO NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
JBrowse link
Accessory spleen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP OMIM:300972 HPO NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516
JBrowse link
G B9D1 B9 domain containing 1 IAGP ORPHA:564 HPO NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G B9D2 B9 domain containing 2 IAGP ORPHA:564 HPO NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ORPHA:564 HPO NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CENPF centromere protein F IAGP OMIM:243605 HPO NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,195...214,664,571
JBrowse link
G CEP290 centrosomal protein 290 IAGP ORPHA:564 HPO NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CPLX1 complexin 1 IAGP OMIM:194190 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CREBBP CREB binding protein IAGP OMIM:180849 HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:564 HPO NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G EP300 E1A binding protein p300 IAGP OMIM:180849 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:268300 HPO NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G EXOC2 exocyst complex component 2 IAGP OMIM:619306 HPO NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP OMIM:194190 HPO NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP OMIM:236680 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP OMIM:249000 ORPHA:564 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP OMIM:164280 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYRF myelin regulatory factor IAGP OMIM:618280 HPO NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP OMIM:194190 HPO NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP OMIM:618419 HPO NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
JBrowse link
G PRIM1 DNA primase subunit 1 IAGP OMIM:620005 HPO NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,731,296...56,752,374
JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ORPHA:564 HPO NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:564 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TCTN1 tectonic family member 1 IAGP ORPHA:564 HPO NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
JBrowse link
G TCTN2 tectonic family member 2 IAGP ORPHA:564 HPO NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:564 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP ORPHA:564 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP ORPHA:564 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:564 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ORPHA:564 HPO NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ORPHA:564 HPO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP ORPHA:564 HPO NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
G WT1 WT1 transcription factor IAGP OMIM:608978 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP OMIM:619418 HPO NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
JBrowse link
Asplenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIRE autoimmune regulator IAGP OMIM:240300 HPO NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648
JBrowse link
G B9D1 B9 domain containing 1 IAGP ORPHA:564 HPO NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G B9D2 B9 domain containing 2 IAGP ORPHA:564 HPO NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G BCL11A BCL11 transcription factor A IAGP ORPHA:251380 HPO NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ORPHA:564 HPO NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP ORPHA:244 HPO NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP OMIM:619123 HPO NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
JBrowse link
G CCDC39 coiled-coil domain containing 39 IAGP ORPHA:244 HPO NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G CCDC40 coiled-coil domain containing 40 IAGP ORPHA:244 HPO NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP ORPHA:244 HPO NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CCNO cyclin O IAGP ORPHA:244 HPO NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
JBrowse link
G CEP290 centrosomal protein 290 IAGP ORPHA:564 HPO NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP ORPHA:244 HPO NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP ORPHA:244 HPO NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ORPHA:244 HPO NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G CFC1 cripto, FRL-1, cryptic family 1 IAGP OMIM:605376 HPO NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:564 HPO NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP ORPHA:244 HPO NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ORPHA:244 HPO NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP ORPHA:244 HPO NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ORPHA:244 HPO NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP ORPHA:244 HPO NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP ORPHA:244 HPO NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP ORPHA:244 HPO NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ORPHA:244 HPO NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ORPHA:244 HPO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ORPHA:244 HPO NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ORPHA:244 HPO NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP OMIM:244400 ORPHA:244 HPO NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP ORPHA:244 HPO NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP ORPHA:244 HPO NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP ORPHA:244 HPO NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP ORPHA:244 HPO NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP OMIM:602361 HPO NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
JBrowse link
G FOXF1 forkhead box F1 IAGP ORPHA:210122 HPO NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G FOXJ1 forkhead box J1 IAGP ORPHA:244 HPO NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP ORPHA:244 HPO NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
JBrowse link
G GAS8 growth arrest specific 8 IAGP ORPHA:244 HPO NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G GDF1 growth differentiation factor 1 IAGP OMIM:208530 HPO NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G HBB hemoglobin subunit beta IAGP ORPHA:251380 HPO 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 ORPHA:251380 HPO 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 ORPHA:251380 HPO NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605
JBrowse link
G HMOX1 heme oxygenase 1 IAGP OMIM:614034 HPO NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ORPHA:244 HPO NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G KLF1 KLF transcription factor 1 IAGP ORPHA:251380 HPO NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ORPHA:244 HPO NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP ORPHA:244 HPO NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP OMIM:249000 ORPHA:564 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MNS1 meiosis specific nuclear structural 1 IAGP OMIM:618948 HPO NCBI chr15:56,428,724...56,465,137
Ensembl chr15:56,421,544...56,465,137
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP OMIM:164280 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G NEK10 NIMA related kinase 10 IAGP ORPHA:244 HPO NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
JBrowse link
G NEK8 NIMA related kinase 8 IAGP OMIM:615415 HPO NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455
JBrowse link
G NME8 NME/NM23 family member 8 IAGP ORPHA:244 HPO NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
JBrowse link
G NODAL nodal growth differentiation factor IAGP OMIM:270100 HPO NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G NPHP3 nephrocystin 3 IAGP OMIM:208540 HPO NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 IAGP ClinVar Annotator: match by term: Asplenia ClinVar PMID:24702954 PMID:25741868 NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP ORPHA:244 HPO NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP ORPHA:244 HPO NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP ORPHA:244 HPO NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP ORPHA:244 HPO NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:244 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP ORPHA:3204 HPO NCBI chr12:121,626,550...121,642,040
Ensembl chr12:121,626,509...121,643,218
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP ORPHA:244 HPO NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ORPHA:564 HPO NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:564 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G RPSA ribosomal protein SA IAGP OMIM:271400 HPO NCBI chr 3:39,406,720...39,412,542
Ensembl chr 3:39,406,716...39,426,255
JBrowse link
G RSPH1 radial spoke head component 1 IAGP ORPHA:244 HPO NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
JBrowse link
G RSPH3 radial spoke head 3 IAGP ORPHA:244 HPO NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
JBrowse link
G RSPH4A radial spoke head component 4A IAGP ORPHA:244 HPO NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G RSPH9 radial spoke head component 9 IAGP ORPHA:244 HPO NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
JBrowse link
G SMAD2 SMAD family member 2 IAGP OMIM:619657 HPO NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP ORPHA:244 HPO NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G SPEF2 sperm flagellar 2 IAGP ORPHA:244 HPO NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G STIM1 stromal interaction molecule 1 IAGP OMIM:185070 ORPHA:3204 HPO NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
JBrowse link
G STK36 serine/threonine kinase 36 IAGP ORPHA:244 HPO NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G TCTN1 tectonic family member 1 IAGP ORPHA:564 HPO NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
JBrowse link
G TCTN2 tectonic family member 2 IAGP ORPHA:564 HPO NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:564 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP ORPHA:564 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP ORPHA:564 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:564 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ORPHA:564 HPO NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ORPHA:564 HPO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP ORPHA:244 HPO NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP OMIM:617746 HPO NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP ORPHA:564 HPO NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
G WNT3 Wnt family member 3 IAGP OMIM:273395 HPO NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ORPHA:261537 HPO NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:306955 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP ORPHA:244 HPO NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Ectopia of the spleen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B IAGP OMIM:613751 HPO NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
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 OMIM:610377 HPO NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP OMIM:619220 HPO 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 ORPHA:31150 HPO NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ADA2 adenosine deaminase 2 IAGP OMIM:615688 HPO 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 ORPHA:51 HPO NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP OMIM:608776 HPO 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 ORPHA:64 HPO 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 ORPHA:85408 HPO 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 OMIM:608233 HPO 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 ORPHA:333 HPO 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 ORPHA:98850 HPO 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 ORPHA:1333 HPO NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:1333 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CA2 carbonic anhydrase 2 IAGP OMIM:259730 HPO NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CALR calreticulin IAGP ORPHA:824 HPO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CAV1 caveolin 1 IAGP OMIM:612526 HPO 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 ORPHA:98850
ClinVar Annotator: match by term: Hepatosplenomegaly
HPO
ClinVar
PMID:20619386 PMID:24493670 PMID:25178484 PMID:25741868 PMID:28492532 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 OMIM:616828 HPO 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 ORPHA:85408 HPO 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 OMIM:615122 HPO NCBI chr12:6,444,955...6,451,713
Ensembl chr12:6,444,955...6,451,718
JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP ORPHA:169160 HPO 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 ORPHA:169160 HPO NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CD70 CD70 molecule IAGP OMIM:618261 HPO 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 ORPHA:1333 HPO 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 OMIM:219700 HPO 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 ORPHA:210110 HPO 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 ORPHA:263508 HPO 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 ORPHA:263501 HPO 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 ORPHA:263487 HPO 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 ORPHA:79333 HPO NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
JBrowse link
G CSF3R colony stimulating factor 3 receptor IAGP OMIM:162830 HPO NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278
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 OMIM:256540 HPO NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949
JBrowse link
G CTSK cathepsin K IAGP ORPHA:763 HPO 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 OMIM:618935 HPO 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 ORPHA:79302 HPO 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 ORPHA:84081 HPO 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 ORPHA:93352 HPO 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 ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP OMIM:619858 HPO 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 ORPHA:79322 HPO 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 ORPHA:731 HPO 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 OMIM:619013 HPO 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 OMIM:219700 HPO 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 OMIM:612840 HPO 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 OMIM:614592 ORPHA:313855 HPO 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 OMIM:612541 HPO NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
JBrowse link
G GALK1 galactokinase 1 IAGP ORPHA:79237 HPO NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ORPHA:2072 HPO 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 OMIM:232500 HPO 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 ORPHA:33574 HPO 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 ORPHA:79255 HPO 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 OMIM:616860 HPO 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 OMIM:619503 HPO 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 ORPHA:3166 HPO 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 ORPHA:576 HPO 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 ORPHA:171 HPO 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 ORPHA:86884 HPO 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 ORPHA:231214 ORPHA:231222 ORPHA:231226 HPO NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HEXB hexosaminidase subunit beta IAGP OMIM:268800 HPO 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 ORPHA:541423 HPO 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 OMIM:309900 ORPHA:217085 ORPHA:217093 HPO 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 OMIM:607014 HPO 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 ORPHA:51 HPO 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 OMIM:618963 HPO 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 OMIM:209950 HPO 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 OMIM:266920 HPO 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 OMIM:301081 HPO 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 ORPHA:85408 HPO 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 ORPHA:85408 HPO 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 OMIM:619750 HPO 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 ORPHA:169154 HPO 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 ORPHA:228426 HPO NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G JAK1 Janus kinase 1 IAGP OMIM:618999 HPO 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 ORPHA:824 HPO 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 ORPHA:35078 HPO 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 OMIM:618955 HPO 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 OMIM:613673 HPO 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 ORPHA:397612 HPO 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 ORPHA:1333 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LBR lamin B receptor IAGP OMIM:215140 HPO 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 OMIM:278000 HPO NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LPIN2 lipin 2 IAGP OMIM:609628 HPO NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
JBrowse link
G LPL lipoprotein lipase IAGP OMIM:238600 HPO 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 ORPHA:51 HPO NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
JBrowse link
G LYST lysosomal trafficking regulator IAGP ORPHA:167 HPO 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 ORPHA:309282 HPO NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
JBrowse link
G MED12 mediator complex subunit 12 IAGP OMIM:301068 HPO 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 ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP ORPHA:79330 HPO 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 ORPHA:824 HPO 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 ORPHA:171 HPO 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 OMIM:610377 HPO 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 OMIM:618982 HPO NCBI chr12:54,497,752...54,548,243
Ensembl chr12:54,497,752...54,548,243
JBrowse link
G NEU1 neuraminidase 1 IAGP ORPHA:93399 HPO 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 OMIM:618278 HPO 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 OMIM:607115 HPO NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108
JBrowse link
G NPHP3 nephrocystin 3 IAGP OMIM:267010 HPO 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 OMIM:259720 HPO 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 ORPHA:1333 HPO 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 ORPHA:1333 HPO NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP OMIM:614866 HPO NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ORPHA:731 HPO 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 ORPHA:210110 HPO NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758
JBrowse link
G PRF1 perforin 1 IAGP OMIM:603553 HPO 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 OMIM:615559 HPO 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 OMIM:604416 HPO 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 ORPHA:85408 HPO 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 ORPHA:85408 HPO 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 OMIM:619924 HPO 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 OMIM:607624 HPO 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 ORPHA:1333 HPO 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 OMIM:618986 HPO NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RAG1 recombination activating 1 IAGP ORPHA:331206 HPO NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP ORPHA:331206 HPO 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 OMIM:618534 HPO 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 OMIM:274000 HPO 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 ORPHA:71275 HPO 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 ORPHA:71275 HPO 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 ORPHA:71275 HPO 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 OMIM:610333 ORPHA:51 HPO 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 ORPHA:51 HPO 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 OMIM:610329 ORPHA:51 HPO 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 ORPHA:353298 HPO 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 OMIM:619487 HPO 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 ORPHA:96334 HPO 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 ORPHA:98850 HPO 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 ORPHA:51 HPO NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G SC5D sterol-C5-desaturase IAGP OMIM:607330 HPO NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP ORPHA:466794 HPO NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704
JBrowse link
G SEMA4D semaphorin 4D IAGP ORPHA:171 HPO 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 ORPHA:247598 HPO 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 ORPHA:168569 HPO 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 ORPHA:168577 HPO 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 OMIM:611590 HPO 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 ORPHA:470 HPO 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 ORPHA:1333 HPO NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SNX14 sorting nexin 14 IAGP ORPHA:397709 HPO 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 OMIM:609136 HPO 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 ORPHA:79124 HPO 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 ORPHA:98850 HPO 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 ORPHA:391487 HPO 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 OMIM:615952 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:85408 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STEAP3 STEAP3 metalloreductase IAGP ORPHA:300298 HPO 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 OMIM:613101 HPO NCBI chr19:7,637,110...7,647,873
Ensembl chr19:7,636,772...7,647,873
JBrowse link
G TALDO1 transaldolase 1 IAGP OMIM:606003 ORPHA:101028 HPO NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
JBrowse link
G TCF4 transcription factor 4 IAGP ORPHA:171 HPO 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 ORPHA:210110 HPO 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 OMIM:619126 ORPHA:824 ORPHA:98850 HPO 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 OMIM:301066 HPO 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 OMIM:219700 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ORPHA:84081 HPO 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: Enlarged liver and spleen ClinVar PMID:23965844 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 OMIM:259710 HPO 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 ORPHA:391487 HPO NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:1333 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP ORPHA:51 HPO 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 OMIM:619902 HPO 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 OMIM:608898
DNA:deletions, insertion, snps:exons, intron:multiple
HPO
RGD
PMID:14622600 RGD:1600451 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785
JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP ORPHA:505248 HPO NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494
JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP ORPHA:911 HPO 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 OMIM:619488 HPO 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 OMIM:619644 HPO NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
JBrowse link
Hypoplastic spleen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111A FAM111 trypsin like peptidase A IAGP OMIM:602361 HPO NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP ORPHA:89844 HPO NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244
JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP OMIM:619313 HPO NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ORPHA:89844 HPO NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G RELN reelin IAGP ORPHA:89844 HPO NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP OMIM:617053 HPO NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP OMIM:601186 HPO NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
JBrowse link
Multilobulated spleen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP OMIM:601186 HPO NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
JBrowse link
Polysplenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B IAGP OMIM:613751 HPO NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP ORPHA:244 HPO NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
JBrowse link
G CCDC39 coiled-coil domain containing 39 IAGP OMIM:613807 HPO NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G CCDC40 coiled-coil domain containing 40 IAGP ORPHA:244 HPO NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP ORPHA:244 HPO NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CCNO cyclin O IAGP ORPHA:244 HPO NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP OMIM:614226 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP ORPHA:244 HPO NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP ORPHA:244 HPO NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ORPHA:244 HPO NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G CFAP45 cilia and flagella associated protein 45 IAGP OMIM:619608 HPO NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165
JBrowse link
G CFC1 cripto, FRL-1, cryptic family 1 IAGP OMIM:605376 HPO NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP ORPHA:244 HPO NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ORPHA:244 HPO NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP ORPHA:244 HPO NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ORPHA:244 HPO NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP ORPHA:244 HPO NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP ORPHA:244 HPO NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP ORPHA:244 HPO NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ORPHA:244 HPO NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ORPHA:244 HPO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ORPHA:244 HPO NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ORPHA:244 HPO NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ORPHA:244 HPO NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP ORPHA:244 HPO NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP ORPHA:244 HPO NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP ORPHA:244 HPO NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP ORPHA:244 HPO NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G FOXJ1 forkhead box J1 IAGP ORPHA:244 HPO NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP ORPHA:244 HPO NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
JBrowse link
G GAS8 growth arrest specific 8 IAGP ORPHA:244 HPO NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G GDF1 growth differentiation factor 1 IAGP OMIM:208530 HPO NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 ORPHA:373 HPO 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 OMIM:312870 ORPHA:373 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ORPHA:244 HPO NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ORPHA:244 HPO NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP ORPHA:244 HPO NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ORPHA:65759 HPO NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
JBrowse link
G MMP21 matrix metallopeptidase 21 IAGP OMIM:616749 HPO NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP OMIM:164280 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G NEK10 NIMA related kinase 10 IAGP ORPHA:244 HPO NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
JBrowse link
G NME8 NME/NM23 family member 8 IAGP ORPHA:244 HPO NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
JBrowse link
G NPHP3 nephrocystin 3 IAGP OMIM:208540 HPO NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP ORPHA:244 HPO NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP ORPHA:244 HPO NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP ORPHA:244 HPO NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP ORPHA:244 HPO NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:244 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting IAGP DNA:polymorphisms:cds: RGD PMID:30664273 RGD:155630603 NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 ORPHA:65759 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP OMIM:617784 HPO NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP ORPHA:244 HPO NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
JBrowse link
G RSPH1 radial spoke head component 1 IAGP ORPHA:244 HPO NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
JBrowse link
G RSPH3 radial spoke head 3 IAGP ORPHA:244 HPO NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
JBrowse link
G RSPH4A radial spoke head component 4A IAGP ORPHA:244 HPO NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G RSPH9 radial spoke head component 9 IAGP ORPHA:244 HPO NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP ORPHA:244 HPO NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G SPEF2 sperm flagellar 2 IAGP ORPHA:244 HPO NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G STK36 serine/threonine kinase 36 IAGP ORPHA:244 HPO NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP ORPHA:244 HPO NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
JBrowse link
G WDR35 WD repeat domain 35 IAGP OMIM:613610 HPO NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP OMIM:619418 HPO NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:306955 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP ORPHA:244 HPO NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Splenic cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLIS3 GLIS family zinc finger 3 IAGP OMIM:610199 HPO NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392
JBrowse link
Splenic infarction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP OMIM:603903 HPO NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
Splenic rupture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGA fibrinogen alpha chain IAGP OMIM:202400 HPO NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G FGB fibrinogen beta chain IAGP OMIM:202400 HPO NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP OMIM:202400 HPO NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
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 OMIM:205400 HPO 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 OMIM:601847 HPO 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 OMIM:602347 HPO 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 OMIM:616278 HPO 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 OMIM:210250 HPO 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 ORPHA:521 HPO 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 OMIM:102700 ORPHA:39041 HPO 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 PMID:25741868 PMID:27514238 PMID:28492532 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 ORPHA:2136 HPO 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 OMIM:615010 HPO 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 OMIM:616368 HPO NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G AGA aspartylglucosaminidase IAGP ORPHA:93 HPO 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 OMIM:608594 HPO 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 OMIM:235555 HPO 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 OMIM:176920 ORPHA:744 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 IAGP ORPHA:75563 HPO 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 OMIM:611881 HPO 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 OMIM:608540 HPO NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379
JBrowse link
G ALPK1 alpha kinase 1 IAGP OMIM:614979 HPO 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 OMIM:182900 ORPHA:251066 ORPHA:822 HPO NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP OMIM:617050 HPO NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
JBrowse link
G APOA1 apolipoprotein A1 IAGP OMIM:105200 HPO NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOC2 apolipoprotein C2 IAGP OMIM:207750 HPO NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565
JBrowse link
G APOE apolipoprotein E IAGP OMIM:269600 ORPHA:158029 HPO 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 ARSB arylsulfatase B IAGP OMIM:253200 HPO 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 ORPHA:567 HPO 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 OMIM:228000 HPO 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 ORPHA:98849 HPO 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 ORPHA:52416 HPO NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...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 OMIM:300972
ClinVar Annotator: match by term: Splenomegaly
HPO
ClinVar
PMID:25741868 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 ORPHA:3473 HPO 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 OMIM:277900 HPO 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 OMIM:211600 HPO NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
JBrowse link
G ATRX ATRX chromatin remodeler IAGP ORPHA:231401 HPO 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 OMIM:105200 HPO 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 ORPHA:79332 HPO 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 OMIM:618394 HPO 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 ORPHA:251380 HPO NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G BCL2 BCL2 apoptosis regulator IAGP ORPHA:545 HPO NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL6 BCL6 transcription repressor IAGP ORPHA:545 HPO 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 ORPHA:521 HPO 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 OMIM:235200 HPO 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 ORPHA:465508 HPO NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:115150 HPO 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 OMIM:269700 HPO NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G BTD biotinidase IAGP OMIM:253260 HPO NCBI chr 3:15,601,352...15,722,516
Ensembl chr 3:15,601,341...15,722,311
JBrowse link
G BTNL2 butyrophilin like 2 IAGP OMIM:612387 HPO NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP ORPHA:117 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G CALR calreticulin IAGP OMIM:187950 OMIM:254450 ORPHA:131 ORPHA:3318 HPO 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 OMIM:616452
ClinVar Annotator: match by term: Splenomegaly
DNA:missense mutations:cds:p.E127G, p.G116S
HPO
ClinVar
RGD
PMID:18323416 PMID:23129749 PMID:25741868 PMID:28492532 PMID:23129749 RGD:11100033 NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP OMIM:300908 HPO 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 OMIM:603909 ORPHA:3261 HPO 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 OMIM:607271 HPO NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CASR calcium sensing receptor IAGP OMIM:239200 ORPHA:417 HPO 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 OMIM:612526 HPO 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 OMIM:613327 HPO NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ORPHA:1454 HPO 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 ORPHA:2136 HPO 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 OMIM:616828 HPO 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 OMIM:618268 HPO NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
JBrowse link
G CCND1 cyclin D1 IAGP ORPHA:29073 ORPHA:52416 HPO 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 ORPHA:117 HPO 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 OMIM:240500 ORPHA:1572 HPO NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD28 CD28 molecule IAGP ORPHA:2584 ORPHA:3162 HPO NCBI chr 2:203,706,465...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CD40LG CD40 ligand IAGP OMIM:308230 HPO 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 ORPHA:1572 HPO NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G CDAN1 codanin 1 IAGP OMIM:224120 HPO 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 OMIM:615631 HPO 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 OMIM:602271 HPO 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 ORPHA:39041 HPO 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 OMIM:611490 OMIM:618541 ORPHA:667 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
JBrowse link
G CLDN1 claudin 1 IAGP ORPHA:59303 HPO 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 caseinolytic mitochondrial matrix peptidase chaperone subunit B IAGP OMIM:619813 HPO 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 OMIM:613489 HPO 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 OMIM:614576 HPO 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 OMIM:608779 HPO NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO 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 OMIM:619046 HPO 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 OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
HPO
RGD
PMID:19268275 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 OMIM:121300 HPO 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 OMIM:240500 OMIM:614699 ORPHA:1572 HPO NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
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 ORPHA:1775 HPO 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 OMIM:616100 ORPHA:2584 ORPHA:3162 HPO 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 OMIM:219800 HPO 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 OMIM:233690 ORPHA:379 HPO 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 OMIM:306400 ORPHA:379 HPO 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 ORPHA:379 HPO 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 OMIM:613812 HPO 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 OMIM:616217 OMIM:617394 HPO 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 OMIM:602450 OMIM:603554 ORPHA:39041 HPO 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 OMIM:602557 HPO NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
JBrowse link
G DGUOK deoxyguanosine kinase IAGP OMIM:251880 OMIM:617068 HPO 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 ORPHA:35107 HPO 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 OMIM:270400 HPO 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 ORPHA:1775
ClinVar Annotator: match by term: Splenomegaly
HPO
ClinVar
PMID:25741868 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 OMIM:616589 HPO 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 1 like 3 IAGP ORPHA:36412 HPO 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 OMIM:608799 HPO 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 OMIM:617088 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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 OMIM:611804 ORPHA:288 HPO 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 OMIM:612690 ORPHA:822 HPO NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO 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 OMIM:133180 HPO 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 OMIM:133540 HPO 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 OMIM:216400 HPO 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 ORPHA:131 HPO 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 OMIM:276700 ORPHA:882 HPO 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 OMIM:601859 ORPHA:117 ORPHA:3261
ClinVar Annotator: match by term: Splenomegaly
HPO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP OMIM:601859 ORPHA:3261 HPO 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 ORPHA:2136 HPO 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 OMIM:619164 HPO NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
JBrowse link
G FGA fibrinogen alpha chain IAGP OMIM:105200 HPO NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
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 OMIM:602079 HPO NCBI chr 1:171,090,905...171,117,819
Ensembl chr 1:171,090,901...171,117,819
JBrowse link
G FOCAD focadhesin IAGP OMIM:619991 HPO 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 ORPHA:37042 HPO 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 OMIM:230000 HPO 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 OMIM:612541 HPO 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 OMIM:300908
ClinVar Annotator: match by term: Splenomegaly
HPO
ClinVar
PMID:25741868 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 OMIM:232300 HPO NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,556...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 OMIM:230350 HPO 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 OMIM:314050 ORPHA:231393 ORPHA:79277 HPO 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 ORPHA:3226
ClinVar Annotator: match by term: Increased spleen size
HPO
ClinVar
PMID:25741868 PMID:28492532 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 OMIM:230800 OMIM:230900 OMIM:231000 OMIM:231005 ORPHA:77259 ORPHA:77260 ORPHA:77261 ORPHA:85212 HPO 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 OMIM:617913 HPO NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999
JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP OMIM:619463 HPO 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 OMIM:230500 HPO 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 OMIM:610199 HPO 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 OMIM:616860 HPO 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 OMIM:269921 HPO 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 OMIM:252500 HPO 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 OMIM:252940 HPO 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 OMIM:153670 HPO 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 ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 ORPHA:373 HPO 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 OMIM:312870 ORPHA:373 HPO 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 OMIM:614480 HPO 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 OMIM:613470 HPO 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 OMIM:615947 HPO NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170
JBrowse link
G GUSB glucuronidase beta IAGP OMIM:253220 ORPHA:584 HPO 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 ORPHA:288 HPO 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 OMIM:613313 HPO 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 OMIM:618398 HPO 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 OMIM:613978 ORPHA:163596 HPO NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP OMIM:613978 ORPHA:163596 HPO NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
JBrowse link
G HBB hemoglobin subunit beta IAGP OMIM:603902 OMIM:603903 ORPHA:2133 ORPHA:231242 ORPHA:251380 ORPHA:46532 ORPHA:90039 HPO 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 ORPHA:46532 HPO 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 ORPHA:46532 HPO 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 HFE homeostatic iron regulator IAGP OMIM:235200 ORPHA:465508 HPO NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP OMIM:252930 HPO 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 ORPHA:567 HPO 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 OMIM:602390 HPO 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 OMIM:235700 HPO 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 ORPHA:117 HPO 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 OMIM:181000 ORPHA:545 ORPHA:85414 HPO 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 ORPHA:2796 HPO 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 OMIM:261515 HPO 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 OMIM:607765 ORPHA:79301 HPO 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 OMIM:240500 OMIM:607594 ORPHA:1572 HPO 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 IDUA alpha-L-iduronidase IAGP OMIM:607014 OMIM:607015 ORPHA:93473 ORPHA:93474 ORPHA:93476 HPO 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 OMIM:615846 HPO NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP ORPHA:117 HPO 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 OMIM:615630 HPO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IGH immunoglobulin heavy locus IAGP ORPHA:52416 ORPHA:545 HPO 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 OMIM:619437 HPO NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,718...39,864,312
JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO 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 ORPHA:117 HPO 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 ORPHA:117 HPO NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP OMIM:612852 HPO 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 ORPHA:117 HPO 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 OMIM:618495 HPO 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 ORPHA:39041 HPO 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 ORPHA:85414 HPO 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 OMIM:608971 ORPHA:39041 HPO 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  X:155,997,696...156,010,817
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ORPHA:1454 HPO 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 ORPHA:2746 HPO 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:15858187 PMID:16081687 PMID:16247455 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 ORPHA:1572 HPO 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 ORPHA:3452 HPO NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
JBrowse link
G IRF8 interferon regulatory factor 8 IAGP OMIM:226990 HPO 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 OMIM:613385 HPO 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 OMIM:613011 HPO 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 OMIM:133100 OMIM:254450 OMIM:263300 ORPHA:131 ORPHA:3318 ORPHA:71493 ORPHA:729
ClinVar Annotator: match by term: Splenomegaly
HPO
ClinVar
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... 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 ORPHA:567 HPO 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 OMIM:135500 ORPHA:3473 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP ORPHA:3473 HPO 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 OMIM:616689 HPO 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 ORPHA:98849 HPO 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 ORPHA:46532 HPO 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 ORPHA:117 HPO 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 OMIM:615637 HPO 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 OMIM:614470 HPO 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 ORPHA:85414 HPO 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 OMIM:617514 HPO NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784
JBrowse link
G LBR lamin B receptor IAGP OMIM:613471 HPO 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 ORPHA:79292 HPO NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131
JBrowse link
G LIG4 DNA ligase 4 IAGP ORPHA:39041 HPO 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 ORPHA:75233 ORPHA:75234 HPO NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LMNA lamin A/C IAGP ORPHA:2348 ORPHA:280365 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...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:154,542,736...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...154,002,415 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:153,470,811...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:155,216,212...155,216,506 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:153,985,292...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:155,057,434...155,057,728 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 LPIN2 lipin 2 IAGP ORPHA:77297 HPO NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
JBrowse link
G LPL lipoprotein lipase IAGP OMIM:238600 HPO 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 OMIM:614700 HPO NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G LYST lysosomal trafficking regulator IAGP OMIM:214500 HPO NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
JBrowse link
G LYZ lysozyme IAGP OMIM:105200 HPO NCBI chr12:69,348,381...69,354,234
Ensembl chr12:69,348,381...69,354,234
JBrowse link
G MAGT1 magnesium transporter 1 IAGP OMIM:300853 HPO 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 OMIM:248500 HPO 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 OMIM:609981 HPO 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 MEFV MEFV innate immunity regulator, pyrin IAGP OMIM:249100 ORPHA:117 ORPHA:342 HPO 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 OMIM:615673 HPO 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 ORPHA:85414 HPO 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 OMIM:249000 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP ORPHA:79312 HPO 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 OMIM:617441 HPO 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 OMIM:254450 ORPHA:3318 ORPHA:71493 ORPHA:729 HPO 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 ORPHA:1572 HPO NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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 ORPHA:29 HPO 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 ORPHA:33226 HPO NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,024
JBrowse link
G MYO5B myosin VB IAGP OMIM:619868 HPO 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 NAGLU N-acetyl-alpha-glucosaminidase IAGP OMIM:252920 HPO NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
JBrowse link
G NBEAL2 neurobeachin like 2 IAGP OMIM:139090 ORPHA:721 HPO 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 OMIM:233700 ORPHA:379 HPO 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 OMIM:233710 ORPHA:379 HPO 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 ORPHA:379 HPO 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 OMIM:252010 HPO 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 OMIM:256550 ORPHA:812 HPO 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 ORPHA:1572 HPO 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 ORPHA:1572 HPO NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G NGLY1 N-glycanase 1 IAGP ORPHA:404454 HPO 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 ORPHA:1775 HPO 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 OMIM:616050 HPO 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 OMIM:617388 HPO 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 OMIM:611762 HPO 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 ORPHA:1451 ORPHA:575 HPO NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP ORPHA:90340
associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844)
HPO
RGD
PMID:20646002 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 ORPHA:1775 HPO NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
G NOTCH1 notch receptor 1 IAGP OMIM:616028 HPO 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 ORPHA:955 HPO 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 OMIM:257220 HPO 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 OMIM:607625 HPO NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177
JBrowse link
G NPHP3 nephrocystin 3 IAGP OMIM:208540 HPO 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 ORPHA:1775 HPO 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 OMIM:614470 HPO 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 OMIM:618042 HPO NCBI chr12:112,906,962...112,933,219
Ensembl chr12:112,905,856...112,933,219
JBrowse link
G OCLN occludin IAGP OMIM:251290 HPO 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 OTC ornithine transcarbamylase IAGP ORPHA:664 HPO NCBI chr  X:38,352,604...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP ORPHA:1775 HPO 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 OMIM:607685 HPO 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 OMIM:170100 ORPHA:742 HPO NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP ORPHA:773 HPO 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 OMIM:306000 HPO 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 ORPHA:79240 HPO 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 OMIM:613027 ORPHA:264580 HPO 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 ORPHA:773 HPO NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP OMIM:194380 OMIM:616843 ORPHA:3202 HPO 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 OMIM:301072 HPO 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 OMIM:610293 HPO 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 OMIM:618440 HPO 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 OMIM:612918 HPO 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 OMIM:615513 HPO 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 OMIM:619802 HPO 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 OMIM:616005 HPO 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 OMIM:263200 ORPHA:53035 HPO 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 OMIM:266200 ORPHA:766 HPO 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 OMIM:618107 HPO 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 OMIM:613179 HPO 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 ORPHA:565612 HPO NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP ORPHA:79083 HPO 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 ORPHA:540 HPO 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 ORPHA:1572 ORPHA:3261 HPO NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PSAP prosaposin IAGP OMIM:610539 OMIM:611721 ORPHA:139406 HPO 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 OMIM:619175 HPO 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 OMIM:617591 HPO 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 OMIM:256040 HPO 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 OMIM:617591 HPO 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 OMIM:619183 HPO 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 OMIM:605309 ORPHA:2969 ORPHA:744 HPO 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 ORPHA:79477 HPO 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 OMIM:603554 ORPHA:231154 ORPHA:39041 HPO NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP OMIM:603554 ORPHA:39041 HPO 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 ORPHA:3261 HPO 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 OMIM:615895 HPO 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 OMIM:185000 ORPHA:3203 HPO 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 OMIM:619462 HPO 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 OMIM:618641 HPO 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 OMIM:618852 HPO 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 ORPHA:39041 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP OMIM:610333 HPO NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP OMIM:616651 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:1454 HPO 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 ORPHA:567 HPO 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 ORPHA:1775 HPO 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 ORPHA:521 HPO 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 ORPHA:2585 HPO 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: Increased spleen size
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