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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:Respiratory tract infection
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Accession:HP:0011947 term browser browse the term
Definition:An infection of the upper or lower respiratory tract.
Synonyms:exact_synonym: Respiratory infection
 related_synonym: RESPIRATORY INFECTIONS
 xref: MESH:D012141;   SNOMEDCT_US:275498002;   UMLS:C0035243



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Respiratory tract infection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP HPO ORPHA:70587 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ACTN4 actinin alpha 4 IAGP HPO ORPHA:656 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
JBrowse link
G ANKFY1 ankyrin repeat and FYVE domain containing 1 IAGP HPO ORPHA:656 NCBI chr17:4,163,821...4,263,979
Ensembl chr17:4,163,821...4,263,995
JBrowse link
G ANLN anillin, actin binding protein IAGP HPO ORPHA:656 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791
JBrowse link
G APOL1 apolipoprotein L1 IAGP HPO ORPHA:656 NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP HPO ORPHA:656 NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha IAGP HPO ORPHA:656 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP HPO ORPHA:244 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO ORPHA:244 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 40 molecular ruler complex subunit IAGP HPO ORPHA:244 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 HPO ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
JBrowse link
G CD2AP CD2 associated protein IAGP HPO ORPHA:656 NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:60033 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP HPO ORPHA:656 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COQ8B coenzyme Q8B IAGP HPO ORPHA:656 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP HPO ORPHA:656 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTPS1 CTP synthase 1 IAGP HPO OMIM:615897 NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,300...41,012,565
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 IAGP HPO ORPHA:656 NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP HPO OMIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G EDA ectodysplasin A IAGP HPO OMIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G EMP2 epithelial membrane protein 2 IAGP HPO ORPHA:656 NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO OMIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G GAA alpha glucosidase IAGP HPO ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
JBrowse link
G GAPVD1 GTPase activating protein and VPS9 domains 1 IAGP HPO ORPHA:656 NCBI chr 9:125,261,826...125,367,207
Ensembl chr 9:125,261,794...125,367,207
JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 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 HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G GSN gelsolin IAGP HPO ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G INF2 inverted formin 2 IAGP HPO ORPHA:656 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP HPO ORPHA:656 NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
JBrowse link
G MYO1E myosin IE IAGP HPO ORPHA:656 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871
JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO OMIM:618975 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP HPO ORPHA:656 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin IAGP HPO ORPHA:656 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:656 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G NUP133 nucleoporin 133 IAGP HPO ORPHA:656 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
JBrowse link
G NUP160 nucleoporin 160 IAGP HPO ORPHA:656 NCBI chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555
JBrowse link
G NUP205 nucleoporin 205 IAGP HPO ORPHA:656 NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757
JBrowse link
G NUP37 nucleoporin 37 IAGP HPO ORPHA:656 NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120
JBrowse link
G NUP85 nucleoporin 85 IAGP HPO ORPHA:656 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
JBrowse link
G NUP93 nucleoporin 93 IAGP HPO ORPHA:656 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP ClinVar Annotator: match by term: Respiratory infections ClinVar PMID:23010199 PMID:25741868 PMID:28492532 PMID:28667292 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PAX2 paired box 2 IAGP HPO ORPHA:656 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO OMIM:614885 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP HPO ORPHA:656 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O IAGP HPO ORPHA:656 NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO OMIM:616326 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:60033 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:60033 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:60033 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
G SFTPB surfactant protein B IAGP HPO ORPHA:70587 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP HPO ORPHA:70587 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 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 HPO ORPHA:244 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 HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G STX3 syntaxin 3 IAGP HPO OMIM:619445 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882
JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP HPO ORPHA:656 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150
JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP HPO ORPHA:444463 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP HPO ORPHA:656 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:656 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Acute infectious pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:60033 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha IAGP HPO ORPHA:264675 NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  Y:1,268,800...1,310,381
Ensembl chr  X:1,268,800...1,310,381
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP HPO ORPHA:264675 NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:60033 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:60033 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:60033 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
Aspiration pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO OMIM:616368 ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO ORPHA:1465 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO ORPHA:1465 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO ORPHA:1465 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CHAT choline O-acetyltransferase IAGP ClinVar Annotator: match by term: Aspiration pneumonia ClinVar PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP HPO ORPHA:79264 NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP HPO ORPHA:79264 NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
JBrowse link
G CLN6 CLN6 transmembrane ER protein IAGP HPO ORPHA:79264 NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP HPO ORPHA:79264 NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545
JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497
JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G CTSD cathepsin D IAGP HPO ORPHA:79264 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP HPO ORPHA:79264 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031
JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO ORPHA:1465 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO ORPHA:99772 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:79264 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G LRIF1 ligand dependent nuclear receptor interacting factor 1 IAGP HPO OMIM:619477 NCBI chr 1:110,874,957...110,963,922
Ensembl chr 1:110,947,190...110,963,965
JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616430 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO ORPHA:79264 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034
JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G MYO1H myosin IH IAGP HPO OMIM:619482 NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523
JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279
JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO OMIM:618253 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884
JBrowse link
G NFIX nuclear factor I X IAGP HPO OMIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO ORPHA:95232 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,210...2,685,615
JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP HPO ORPHA:79264 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
JBrowse link
G PTCD3 pentatricopeptide repeat domain 3 IAGP HPO OMIM:619057 NCBI chr 2:86,106,235...86,142,157
Ensembl chr 2:86,106,223...86,142,157
JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PURA purine rich element binding protein A IAGP HPO ORPHA:314655 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO OMIM:617053 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO OMIM:619167 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP HPO ORPHA:1465 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:1465 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 IAGP HPO ORPHA:1465 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP HPO ORPHA:1465 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO ORPHA:1465 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO OMIM:609528 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO ORPHA:1465 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO ORPHA:1465 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO ORPHA:53351 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,222...71,532,374
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO ORPHA:90117 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO ORPHA:79264 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
JBrowse link
G UBB ubiquitin B IAGP HPO ORPHA:99772 NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
Bronchiolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ELN elastin IAGP HPO ORPHA:90348 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90348 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:230900 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility IAGP associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) RGD PMID:23487427 RGD:40902982 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO OMIM:614878 NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685
JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO OMIM:615993 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO OMIM:266265 NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP HPO OMIM:604571 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP HPO OMIM:604571 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TAPBP TAP binding protein IAGP HPO OMIM:604571 NCBI chr 6:33,299,694...33,314,078
Ensembl chr 6:33,299,694...33,314,284
JBrowse link
Bronchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO OMIM:601005 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO ORPHA:930 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP HPO ORPHA:930 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO ORPHA:930 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
JBrowse link
G NOS1 nitric oxide synthase 1 IAGP HPO ORPHA:930 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:60 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G SYK spleen associated tyrosine kinase IAGP HPO OMIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
Chronic bronchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO OMIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO OMIM:613807 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 40 molecular ruler complex subunit IAGP HPO OMIM:613808 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 HPO OMIM:615504 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO OMIM:615500 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO OMIM:211400 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO OMIM:614935 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO OMIM:615482 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 HPO OMIM:614874 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP HPO OMIM:620356 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO OMIM:242860 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO OMIM:608647 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO OMIM:615451 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 HPO OMIM:616037 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO OMIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO OMIM:612649 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO OMIM:613021 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO OMIM:211400 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO OMIM:613071 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO OMIM:613490 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO OMIM:615505 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO OMIM:616629 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO OMIM:614069 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO OMIM:615444 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Lung abscess term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP HPO OMIM:241600 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
Pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP HPO ORPHA:70587 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO ORPHA:26793 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:97244 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
JBrowse link
G ADA adenosine deaminase IAGP HPO OMIM:102700 ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO OMIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO OMIM:601005 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP HPO OMIM:617638 NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228
JBrowse link
G CASP8 caspase 8 IAGP HPO OMIM:607271 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CD19 CD19 molecule IAGP HPO ORPHA:1572 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:169160 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640
JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP HPO ORPHA:169160 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP HPO ORPHA:169160 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CD81 CD81 molecule IAGP HPO ORPHA:1572 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G CFB complement factor B IAGP HPO OMIM:615561 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:1572 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO OMIM:602450 OMIM:603554 ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO OMIM:244400 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 HPO OMIM:612444 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO OMIM:242860 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP DNA:mutations: : HPO
RGD
PMID:25724123 ORPHA:217390, RGD:40886274 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FANCF FA complementation group F IAGP HPO OMIM:603467 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:464370 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G FOCAD focadhesin IAGP HPO OMIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
JBrowse link
G FOXN1 forkhead box N1 IAGP HPO OMIM:618806 NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900
JBrowse link
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G ICOS inducible T cell costimulator IAGP HPO OMIM:607594 ORPHA:1572 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO OMIM:209950 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:319552 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO OMIM:613953 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO OMIM:300400 OMIM:312863 ORPHA:276 ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IL7R interleukin 7 receptor IAGP HPO OMIM:608971 ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:1572 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G IRF8 interferon regulatory factor 8 IAGP HPO OMIM:226990 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606
JBrowse link
G JAK3 Janus kinase 3 IAGP HPO OMIM:600802 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO OMIM:613328 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO ORPHA:79404 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO ORPHA:79404 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO ORPHA:79404 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:39041 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO OMIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO OMIM:617809 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 ORPHA:309288 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO OMIM:618695 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO ORPHA:1572 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G MTM1 myotubularin 1 IAGP HPO ORPHA:596 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143
JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO ORPHA:1572 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:1572 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility IAGP associated with combined immunodeficiency;DNA:missense mutation:CDS:c.106T>G (p.S36A) (human) RGD PMID:31683054 RGD:126925985 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO ORPHA:85179 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO OMIM:613328 ORPHA:397596 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:397596 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO OMIM:613179 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO OMIM:264090 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:1572 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:397596 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RAG1 recombination activating 1 IAGP HPO OMIM:601457 OMIM:603554 ORPHA:39041 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP HPO OMIM:601457 OMIM:603554 ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G RANBP2 RAN binding protein 2 IAGP HPO OMIM:608033 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO OMIM:619652 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:98905 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:97244 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SFTPB surfactant protein B IAGP HPO ORPHA:70587 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP HPO ORPHA:70587 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SGCG sarcoglycan gamma IAGP HPO OMIM:253700 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO ORPHA:238459 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336
JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO OMIM:266265 NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO OMIM:158310 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371
JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO ORPHA:486 ORPHA:811 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
G SYK spleen associated tyrosine kinase IAGP HPO OMIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO ORPHA:1572 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO ORPHA:1572 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP HPO ORPHA:1572 NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO OMIM:269840 ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862
JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO OMIM:614069 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Recurrent acute respiratory tract infection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REEP1 receptor accessory protein 1 IAGP HPO OMIM:620011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
Recurrent aspiration pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:2590 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 IAGP HPO OMIM:619971 NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582
JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO ORPHA:930 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin IAGP HPO ORPHA:501 NCBI chr 6:145,383,353...145,736,023
Ensembl chr 6:145,382,535...145,736,023
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:230900 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP HPO ORPHA:930 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO ORPHA:930 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP HPO OMIM:300472 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324
JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G NFIX nuclear factor I X IAGP HPO OMIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:501 NCBI chr 6:18,120,440...18,122,677
Ensembl chr 6:18,120,440...18,122,677
JBrowse link
G NOS1 nitric oxide synthase 1 IAGP HPO ORPHA:930 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO OMIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO ORPHA:79124 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
JBrowse link
Recurrent bronchiolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor IAGP HPO OMIM:616069 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 IAGP HPO OMIM:619164 NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
JBrowse link
Recurrent bronchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP HPO OMIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G CD19 CD19 molecule IAGP HPO OMIM:240500 ORPHA:1572 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD79A CD79a molecule IAGP HPO OMIM:613501 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CD79B CD79b molecule IAGP HPO OMIM:612692 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
JBrowse link
G CD81 CD81 molecule IAGP HPO ORPHA:1572 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO OMIM:240500 ORPHA:1572 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CYBB cytochrome b-245 beta chain IAGP ClinVar Annotator: match by term: Recurrent bronchitis ClinVar PMID:28492532 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO OMIM:613193 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO OMIM:244400 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO OMIM:617091 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO OMIM:620331 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO OMIM:616726 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G ICOS inducible T cell costimulator IAGP HPO OMIM:240500 OMIM:607594 ORPHA:1572 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IL10RB interleukin 10 receptor subunit beta IAGP HPO OMIM:612567 NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420
JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO OMIM:613953 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO OMIM:312863 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:1572 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO OMIM:300853 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271
JBrowse link
G MGP matrix Gla protein IAGP HPO OMIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO ORPHA:1572 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G NBN nibrin IAGP HPO OMIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO ORPHA:1572 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:1572 ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:1572 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G RFX7 regulatory factor X7 IAGP HPO OMIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO OMIM:300455 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO OMIM:619293 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO OMIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP HPO OMIM:604571 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP HPO OMIM:604571 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TAPBP TAP binding protein IAGP HPO OMIM:604571 NCBI chr 6:33,299,694...33,314,078
Ensembl chr 6:33,299,694...33,314,284
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO OMIM:240500 ORPHA:1572 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO OMIM:240500 ORPHA:1572 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP HPO ORPHA:1572 NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890
JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO OMIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109
JBrowse link
Recurrent bronchopulmonary infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO OMIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 IAGP HPO OMIM:610798 ORPHA:90023 NCBI chr 1:156,054,782...156,058,506
Ensembl chr 1:156,054,782...156,058,506
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733
JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:219700 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO OMIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494
JBrowse link
Recurrent infections due to aspiration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO OMIM:223900 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP HPO OMIM:617519 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
JBrowse link
Recurrent lower respiratory tract infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGR2 anterior gradient 2, protein disulphide isomerase family member IAGP HPO OMIM:620233 NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433
JBrowse link
G ALB albumin IAGP HPO OMIM:616000 ORPHA:86816 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP HPO OMIM:618459 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO OMIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO OMIM:300755 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G C1QB complement C1q B chain IAGP HPO OMIM:620321 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP HPO OMIM:619632 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542
JBrowse link
G CD40LG CD40 ligand IAGP HPO OMIM:308230 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP HPO OMIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
JBrowse link
G CD79A CD79a molecule IAGP HPO OMIM:613501 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP HPO ORPHA:586 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554
JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP HPO ORPHA:586 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:586 ORPHA:60033 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO OMIM:209920 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CLCA4 chloride channel accessory 4 IAGP HPO ORPHA:586 NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO OMIM:616720 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO OMIM:130000 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:254090 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO OMIM:254090 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO OMIM:254090 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
JBrowse link
G CORO1A coronin 1A IAGP HPO OMIM:615401 NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO OMIM:616100 ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DCTN4 dynactin subunit 4 IAGP HPO ORPHA:586 NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,708,440...150,759,095
JBrowse link
G DIP2B disco interacting protein 2 homolog B IAGP HPO OMIM:136630 NCBI chr12:50,504,985...50,748,657
Ensembl chr12:50,504,985...50,748,657
JBrowse link
G EDNRA endothelin receptor type A IAGP HPO ORPHA:586 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G FCN3 ficolin 3 IAGP HPO OMIM:613860 NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824
JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO OMIM:618699 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G FUT8 fucosyltransferase 8 IAGP HPO OMIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121
JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO OMIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO OMIM:616726 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:586 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO OMIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999
JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO OMIM:231070 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
JBrowse link
G GSTM3 glutathione S-transferase mu 3 IAGP HPO ORPHA:586 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038
JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:586 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO ORPHA:586 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP HPO OMIM:233600 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO OMIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:169154 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G JAK3 Janus kinase 3 IAGP HPO OMIM:600802 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:586 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase IAGP HPO OMIM:615758 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
JBrowse link
G LIG1 DNA ligase 1 IAGP HPO OMIM:619774 NCBI chr19:48,115,445...48,170,344
Ensembl chr19:48,115,445...48,170,603
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO OMIM:618254 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MALT1 MALT1 paracaspase IAGP HPO OMIM:615468 NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477
JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:586 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090
JBrowse link
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 IAGP HPO OMIM:619170 NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP HPO OMIM:617744 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NUP214 nucleoporin 214 IAGP HPO OMIM:618426 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:300209 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO OMIM:616005 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO OMIM:613179 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO OMIM:615139 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP HPO OMIM:615966 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO OMIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO OMIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO OMIM:618534 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RFT1 RFT1 homolog IAGP HPO OMIM:612015 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453
JBrowse link
G RFX5 regulatory factor X5 IAGP HPO OMIM:209920 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO OMIM:209920 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO OMIM:209920 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO OMIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201
JBrowse link
G SATB1 SATB homeobox 1 IAGP HPO OMIM:619229 NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:60033 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:60033 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:60033 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:586 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP HPO ORPHA:586 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SLC26A9 solute carrier family 26 member 9 IAGP HPO ORPHA:586 NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460
JBrowse link
G SLC6A14 solute carrier family 6 member 14 IAGP HPO ORPHA:586 NCBI chr  X:116,436,606...116,461,458
Ensembl chr  X:116,436,606...116,461,458
JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP HPO ORPHA:586 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STK4 serine/threonine kinase 4 IAGP HPO OMIM:614868 NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021
JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:586 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G STX3 syntaxin 3 IAGP HPO OMIM:619446 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:586 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 IAGP HPO OMIM:620282 NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165
JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP ClinVar Annotator: match by term: Recurrent chest infections ClinVar
HPO
PMID:33586135 OMIM:619220 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958
JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO OMIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP HPO OMIM:617802 NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO OMIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G ZNF668 zinc finger protein 668 IAGP HPO OMIM:620194 NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240
JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
JBrowse link
Recurrent pharyngitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:397 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO OMIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197
JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:32960 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO OMIM:308240 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972
JBrowse link
Recurrent pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO ORPHA:2203 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308
JBrowse link
G ADA adenosine deaminase IAGP HPO OMIM:102700 ORPHA:277 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO OMIM:607143 ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO OMIM:203800 ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO OMIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO OMIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:609465 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G BLNK B cell linker IAGP HPO OMIM:613502 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO OMIM:300755 ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G C3 complement C3 IAGP HPO OMIM:613779 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO OMIM:614379 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO OMIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO OMIM:613327 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO OMIM:613807 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 40 molecular ruler complex subunit IAGP HPO OMIM:613808 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
JBrowse link
G CD19 CD19 molecule IAGP HPO OMIM:240500 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD247 CD247 molecule IAGP HPO OMIM:610163 ORPHA:169160 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640
JBrowse link
G CD27 CD27 molecule IAGP HPO OMIM:615122 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718
JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP HPO ORPHA:169160 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP HPO ORPHA:169160 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CD79B CD79b molecule IAGP HPO OMIM:612692 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:602271 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO OMIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO OMIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO OMIM:215150 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO OMIM:240500 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP HPO OMIM:233690 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO OMIM:306400 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO OMIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO OMIM:615482 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP HPO OMIM:611884 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP HPO OMIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP HPO OMIM:243700 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO OMIM:615294 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO ORPHA:90349 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
JBrowse link
G EGFR epidermal growth factor receptor IAGP HPO OMIM:616069 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90349 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP HPO OMIM:620012 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 IAGP HPO OMIM:619164 NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 IAGP HPO OMIM:602079 NCBI chr 1:171,090,905...171,117,819
Ensembl chr 1:171,090,901...171,117,819
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO OMIM:616726 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO OMIM:608647 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G ICOS inducible T cell costimulator IAGP HPO OMIM:240500 OMIM:607594 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP HPO OMIM:300472 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324
JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO OMIM:601495 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO OMIM:613500 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
JBrowse link
G IL21R interleukin 21 receptor IAGP HPO OMIM:615207 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO OMIM:300400 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO OMIM:619750 OMIM:619752 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G JAK3 Janus kinase 3 IAGP HPO ORPHA:35078 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 IAGP HPO OMIM:614098 ORPHA:435628 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345
JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO OMIM:615637 ORPHA:397612 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265
JBrowse link
G LAT linker for activation of T cells IAGP HPO OMIM:617514 NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784
JBrowse link
G LEP leptin IAGP HPO OMIM:614962 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LMNB1 lamin B1 IAGP HPO OMIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO OMIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO ORPHA:90349 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO OMIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
JBrowse link
G MASP2 MBL associated serine protease 2 IAGP HPO OMIM:613791 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239
JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO OMIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO OMIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 IAGP HPO OMIM:617780 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
JBrowse link
G NBN nibrin IAGP HPO OMIM:251260 ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO OMIM:233700 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO OMIM:233710 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO OMIM:616576 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO OMIM:615577 ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO OMIM:620032 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO OMIM:615067 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 HPO OMIM:615451 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO OMIM:617092 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO OMIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO OMIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153
JBrowse link
G PEPD peptidase D IAGP HPO OMIM:170100 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO OMIM:619281 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G PKP1 plakophilin 1 IAGP HPO ORPHA:158668 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO OMIM:301220 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986
JBrowse link
G PURA purine rich element binding protein A IAGP HPO ORPHA:314655 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO OMIM:617751 ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO OMIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit IAGP HPO OMIM:617585 NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192
JBrowse link
G RFX7 regulatory factor X7 IAGP HPO OMIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
JBrowse link
G RNF125 ring finger protein 125 IAGP HPO OMIM:616260 NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,073,219
JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO OMIM:616651 ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO OMIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SFTPC surfactant protein C IAGP HPO OMIM:610913 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SIAH1 siah E3 ubiquitin protein ligase 1 IAGP HPO OMIM:619314 NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402
JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO ORPHA:99843 NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO OMIM:619293 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 IAGP HPO OMIM:617475 NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO OMIM:158310 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:147060 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO OMIM:619436 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G STK4 serine/threonine kinase 4 IAGP HPO OMIM:614868 NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021
JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO OMIM:188400 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TCF3 transcription factor 3 IAGP HPO OMIM:619824 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:219700 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254875 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO OMIM:612301 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO OMIM:240500 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO OMIM:240500 OMIM:613494 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO OMIM:615518 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO OMIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO OMIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109
JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO OMIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WDR1 WD repeat domain 1 IAGP HPO OMIM:150550 NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614378 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO OMIM:613610 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A IAGP HPO OMIM:619769 NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899
JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO OMIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
JBrowse link
Recurrent respiratory infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 IAGP HPO ORPHA:313 ORPHA:457 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO OMIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AGA aspartylglucosaminidase IAGP HPO OMIM:208400 ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
JBrowse link
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G AICDA activation induced cytidine deaminase IAGP HPO OMIM:605258 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
JBrowse link
G AK2 adenylate kinase 2 IAGP HPO ORPHA:33355 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996
JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO ORPHA:313 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP HPO ORPHA:313 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:241500 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO OMIM:617050 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Recurrent respiratory infections ClinVar
HPO
PMID:9536098 PMID:15057123 PMID:17576681 PMID:22405089 PMID:25741868 More... OMIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:159950 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ASPRV1 aspartic peptidase retroviral like 1 IAGP HPO ORPHA:313 NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:100 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G B2M beta-2-microglobulin IAGP HPO OMIM:241600 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP HPO ORPHA:52417 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IAGP HPO ORPHA:52417 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
JBrowse link
G BLNK B cell linker IAGP HPO ORPHA:33110 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Recurrent respiratory infections ClinVar PMID:10371528 PMID:12420090 PMID:19486177 PMID:20129625 PMID:20396531 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP HPO OMIM:618497 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624
JBrowse link
G CARD11 caspase recruitment domain family member 11 IAGP HPO OMIM:615206 NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO OMIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP HPO OMIM:614679 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO OMIM:613807 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 40 molecular ruler complex subunit IAGP HPO OMIM:613808 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 HPO OMIM:615504 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CCNO cyclin O IAGP HPO OMIM:615872 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
JBrowse link
G CD19 CD19 molecule IAGP HPO OMIM:613493 ORPHA:1572 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP HPO OMIM:615617 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP HPO OMIM:615615 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP HPO OMIM:615607 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
JBrowse link
G CD79A CD79a molecule IAGP HPO ORPHA:33110 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CD79B CD79b molecule IAGP HPO ORPHA:33110 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
JBrowse link
G CD81 CD81 molecule IAGP HPO OMIM:613496 ORPHA:1572 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G CD8A CD8 subunit alpha IAGP HPO OMIM:608957 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO ORPHA:2268 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP HPO ORPHA:586 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554
JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP HPO ORPHA:586 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO OMIM:615500 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO OMIM:620197 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:586 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CHAMP1 chromosome alignment maintaining phosphoprotein 1 IAGP HPO OMIM:616579 NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP HPO ORPHA:2970 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO ORPHA:572 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CLCA4 chloride channel accessory 4 IAGP HPO ORPHA:586 NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
JBrowse link
G CLEC7A C-type lectin domain containing 7A IAGP HPO ORPHA:1334 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO OMIM:613489 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO ORPHA:363523 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545
JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497
JBrowse link
G CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO OMIM:614699 ORPHA:1572 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP