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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:Abnormality of the upper respiratory tract
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Accession:HP:0002087 term browser browse the term
Definition:An abnormality of the upper respiratory tract.
Synonyms:exact_synonym: Upper respiratory tract issues
 xref: UMLS:C4025727


show annotations for term's descendants           Sort by:
Abnormality of the upper respiratory tract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:747 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		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
Abnormal aryepiglottic fold morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
Abnormal cricoid cartilage morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
Abnormal epiglottis morphology 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:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G SERPING1 serpin family G member 1 IAGP HPO ORPHA:100050 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171 		JBrowse link
Abnormal larynx morphology 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:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
Abnormal morphology of musculature of pharynx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 MATR3 matrin 3 IAGP HPO ORPHA:600 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		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 PLP1 proteolipid protein 1 IAGP HPO ORPHA:280210 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		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
Abnormal nasopharyngeal adenoid morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM6A lysine demethylase 6A exacerbates IAGP DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple:
DNA:mutations:multiple:		 RGD PMID:23685749 PMID:31483290 RGD:150429732, RGD:150429736 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
Abnormal nasopharynx morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:218400 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G MID1 midline 1 IAGP HPO MIM:300000 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO MIM:607323 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO MIM:147250 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:604292 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
Abnormal paranasal sinus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 RGD PMID:18922348 RGD:7364876 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
Abnormal vocal cord morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECM1 extracellular matrix protein 1 IAGP vocal cord thickening RGD PMID:11929856 RGD:734912 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
Abnormality of the larynx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO3 anoctamin 3 IAGP HPO ORPHA:420485 NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:1458 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:263520 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO MIM:182290 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
Abnormality of the pharynx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:2289 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:1713 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:1727 ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
Abnormality of the sphenoid sinus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Absent frontal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO MIM:301040 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:154780 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G CTSK cathepsin K IAGP HPO MIM:265800 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO MIM:244400 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO MIM:102500 ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
Absent paranasal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO MIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
Absent/hypoplastic paranasal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G SIX2 SIX homeobox 2 IAGP HPO ORPHA:488437 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452 		JBrowse link
Aplasia of the epiglottis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO MIM:617088 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
Aplasia/Hypoplasia of the frontal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G SIX2 SIX homeobox 2 IAGP HPO ORPHA:488437 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452 		JBrowse link
Bifid epiglottis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G FOXE1 forkhead box E1 IAGP HPO MIM:241850 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
Bowing of the vocal cords term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 LRP12 LDL receptor related protein 12 IAGP HPO MIM:164310 ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G MATR3 matrin 3 IAGP HPO MIM:606070 ORPHA:600 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		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 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
Cartilaginous ossification of larynx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
Chronic sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLNK B cell linker IAGP HPO MIM:613502 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP HPO MIM:614679 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 MIM:613807 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 MIM:613808 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 MIM:615504 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 CD79B CD79b molecule IAGP HPO MIM:612692 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336 		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 MIM:618063 ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP45 cilia and flagella associated protein 45 IAGP HPO MIM:619608 NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165 		JBrowse link
G CFAP52 cilia and flagella associated protein 52 IAGP HPO MIM:619607 NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447 		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 ClinVar Annotator: match by term: Chronic sinusitis HPO
ClinVar		 PMID:1379210 PMID:1545465 PMID:7475569 PMID:7529962 PMID:7543317 More... MIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLXN calaxin IAGP HPO MIM:620642 NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO MIM:615636 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP 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 MIM:612518 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 DNAH7 dynein axonemal heavy chain 7 IAGP HPO MIM:620356 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO MIM:618300 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 MIM:244400 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 MIM:612444 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 MIM:614017 ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO MIM:615294 ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO MIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO MIM:618699 ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP 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 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 RGD PMID:15577839 RGD:5147654 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		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 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 LIG4 DNA ligase 4 IAGP HPO MIM:606593 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		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 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 MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		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 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 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 MIM:616037 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 MIM:617092 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 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 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 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 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 RPGR retinitis pigmentosa GTPase regulator IAGP HPO MIM:300455 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 MIM:616481 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 MIM:612650 ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		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 TGFB1 transforming growth factor beta 1 IAGP HPO MIM:219700 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		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 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
Hypoplasia of the epiglottis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CILK1 ciliogenesis associated kinase 1 IAGP HPO MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:2363 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:2363 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO MIM:617666 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:263520 ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO MIM:202650 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421 		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 SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
Hypoplasia of the pharynx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO MIM:154500 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
Hypoplastic frontal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGA aspartylglucosaminidase IAGP HPO MIM:208400 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO MIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
Increased size of nasopharyngeal adenoids term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A IAGP HPO MIM:619769 NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899 		JBrowse link
Laryngeal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B IAGP HPO MIM:314390 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO MIM:219000 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO MIM:314390 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Laryngeal calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:215045 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
Laryngeal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:158320 ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH2 mutS homolog 2 IAGP HPO MIM:158320 ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G RSPO1 R-spondin 1 IAGP HPO MIM:610644 NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Laryngeal cartilage malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Laryngeal cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN15 calpain 15 IAGP HPO MIM:619318 NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636 		JBrowse link
G EDN1 endothelin 1 IAGP HPO MIM:615706 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP HPO MIM:620012 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G MID1 midline 1 IAGP HPO MIM:300000 ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP HPO MIM:617991 NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
Laryngeal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 IAGP HPO ORPHA:90186 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 IAGP HPO MIM:619367 NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415 		JBrowse link
G PLG plasminogen IAGP HPO MIM:619360 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G SERPING1 serpin family G member 1 IAGP HPO MIM:106100 ORPHA:100050 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171 		JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 IAGP HPO ORPHA:100057 NCBI chr  X:129,738,979...129,769,536
Ensembl chr  X:129,738,949...129,769,536 		JBrowse link
Laryngeal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CILK1 ciliogenesis associated kinase 1 IAGP HPO MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:236680 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO MIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:3339 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO MIM:202650 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
Laryngeal papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO MIM:617388 MIM:618803 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
Laryngeal stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDRGK1 DDRGK domain containing 1 IAGP HPO ORPHA:93352 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FLNB filamin B IAGP HPO MIM:108720 ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO MIM:219000 ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		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 MYMK myomaker, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Laryngeal stridor 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:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP HPO MIM:616202 ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BTD biotinidase IAGP HPO ORPHA:79241 NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:280210 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		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:71,366,136...71,532,374 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO MIM:244450 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
Laryngeal web term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO MIM:219000 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO MIM:617660 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
Laryngomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADARB1 adenosine deaminase RNA specific B1 IAGP HPO MIM:618862 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO MIM:616368 ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO MIM:615829 ORPHA:412069 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO MIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO MIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP HPO MIM:616202 ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO MIM:620029 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CTSK cathepsin K IAGP HPO ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DTYMK deoxythymidylate kinase IAGP HPO MIM:619847 NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO MIM:617941 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:93259 ORPHA:93260 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206436 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO MIM:616835 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H3-3B H3.3 histone B IAGP HPO MIM:619721 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO MIM:617660 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO ORPHA:1001 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO MIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		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 JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO MIM:610443 ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO ORPHA:457193 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO MIM:606170 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO MIM:618729 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2189 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO ORPHA:261190 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO MIM:613803 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO MIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:201750 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP HPO MIM:617450 NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO MIM:617157 ORPHA:464288 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:206436 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO MIM:611553 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP HPO MIM:618797 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
G RFX7 regulatory factor X7 IAGP HPO MIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:300998 ORPHA:435938 ORPHA:459070 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:576283 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		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 SIAH1 siah E3 ubiquitin protein ligase 1 IAGP HPO MIM:619314 NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619657 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO MIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO MIM:618506 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:140 ORPHA:718 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SYT1 synaptotagmin 1 IAGP HPO ORPHA:522077 NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO MIM:244450 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO MIM:216550 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A IAGP HPO MIM:619769 NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Laryngospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IAGP HPO ORPHA:803 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ANXA11 annexin A11 IAGP HPO ORPHA:803 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO ORPHA:803 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G CASR calcium sensing receptor IAGP HPO MIM:601198 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CCNF cyclin F IAGP HPO ORPHA:803 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO ORPHA:803 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:803 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:803 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G DAO D-amino acid oxidase IAGP HPO ORPHA:803 NCBI chr12:108,880,092...108,901,043
Ensembl chr12:108,858,932...108,901,043 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO ORPHA:803 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP HPO ORPHA:803 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:803 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:803 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:1945 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77260 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO ORPHA:803 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GLT8D1 glycosyltransferase 8 domain containing 1 IAGP HPO ORPHA:803 NCBI chr 3:52,694,486...52,705,791
Ensembl chr 3:52,694,486...52,706,032 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO ORPHA:1945 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO ORPHA:803 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G MATR3 matrin 3 IAGP HPO ORPHA:803 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G NEFH neurofilament heavy chain IAGP HPO ORPHA:803 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:803 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G OPTN optineurin IAGP HPO ORPHA:803 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G PFN1 profilin 1 IAGP HPO ORPHA:803 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061 		JBrowse link
G PON1 paraoxonase 1 IAGP HPO ORPHA:803 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PON2 paraoxonase 2 IAGP HPO ORPHA:803 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329 		JBrowse link
G PON3 paraoxonase 3 IAGP HPO ORPHA:803 NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP HPO ORPHA:803 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PRPH peripherin IAGP HPO ORPHA:803 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:608390 ORPHA:99734 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP HPO ORPHA:803 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:803 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:1945 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G TAF15 TATA-box binding protein associated factor 15 IAGP HPO ORPHA:803 NCBI chr17:35,809,484...35,847,242
Ensembl chr17:35,809,482...35,864,615 		JBrowse link
G TARDBP TAR DNA binding protein IAGP HPO ORPHA:803 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:803 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:803 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G TSPYL1 TSPY like 1 IAGP HPO MIM:608800 NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO ORPHA:803 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UNC13A unc-13 homolog A IAGP HPO ORPHA:803 NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365 		JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO ORPHA:803 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:803 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Laryngotracheal stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:1190 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:222600 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Neoplasia of the nasopharynx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Tumor of the nasopharynx ClinVar PMID:17525745 PMID:18552176 PMID:22238366 PMID:23002168 PMID:23908597 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Nasopharyngeal neoplasm
ClinVar Annotator: match by term: Neoplasia of the nasopharynx		 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Nasopharyngeal neoplasm
ClinVar Annotator: match by term: Neoplasia of the nasopharynx		 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ameliorates IAGP associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human) RGD PMID:21702039 RGD:150429763 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830 		JBrowse link
G MST1R macrophage stimulating 1 receptor IAGP HPO MIM:617075 NCBI chr 3:49,887,002...49,903,873
Ensembl chr 3:49,886,902...49,903,873 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Tumor of the nasopharynx
ClinVar Annotator: match by term: Nasopharyngeal neoplasm
ClinVar Annotator: match by term: Neoplasia of the nasopharynx		 ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Tumor of the nasopharynx
ClinVar Annotator: match by term: Neoplasia of the nasopharynx
ClinVar Annotator: match by term: Nasopharyngeal neoplasm		 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Neoplasia of the nasopharynx
ClinVar Annotator: match by term: Nasopharyngeal neoplasm		 ClinVar
HPO		 PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 More... MIM:607107 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 treatment
susceptibility
sexual_dimorphism 		IAGP DNA:SNP:3'utr: (rs25489) (human)
DNA:missense mutation:cds: p.R194W (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human)
associated with Exacerbated by tobacco use; DNA:missense mutation:cds: p.R399Q (human)		 RGD PMID:29108254 PMID:17630853 PMID:24175791 PMID:27356695 PMID:16796765 RGD:150530619, RGD:150573708, RGD:150573698, RGD:150573697, RGD:150573694 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
Neoplasm of the larynx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase IAGP HPO ORPHA:926 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease susceptibility IAGP DNA:missense mutation:CDS:p.D1104H RGD PMID:19444904 RGD:155260337 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor susceptibility IAGP DNA:missense mutation:CDS:p.R1230P RGD PMID:19444904 RGD:155260337 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Neoplasm of the nose term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
Neoplasm of the pharynx term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Paranasal sinus hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO MIM:603457 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
Paranasal sinus neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Pharyngalgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CR2 complement C3d receptor 2 IAGP HPO MIM:614699 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP HPO MIM:611762 NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403 		JBrowse link
Pharyngeal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII IAGP HPO MIM:610618 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583 		JBrowse link
G SERPING1 serpin family G member 1 IAGP HPO MIM:106100 ORPHA:100050 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171 		JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 IAGP HPO ORPHA:100057 NCBI chr  X:129,738,979...129,769,536
Ensembl chr  X:129,738,949...129,769,536 		JBrowse link
Pharyngitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		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 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:133 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		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 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
Posterior pharyngeal cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 ORPHA:1572 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO ORPHA:1572 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		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 MID1 midline 1 IAGP HPO MIM:300000 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		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 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 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 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
Prominent frontal sinuses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO ORPHA:79323 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789 		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 MIM: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 MIM:308240 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
Recurrent sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO MIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP ClinVar Annotator: match by term: Recurrent sinusitis ClinVar
HPO		 PMID:33389130 MIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:300755 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO MIM:614379 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO MIM:615504 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CD19 CD19 molecule IAGP HPO MIM:240500 MIM:613493 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO MIM: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 MIM:620197 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CFI complement factor I IAGP HPO MIM:610984 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO MIM:130000 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO MIM:130010 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO MIM:240500 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO MIM:613193 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 MIM:614935 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 MIM:612518 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO MIM: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 MIM:614874 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 MIM:300991 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO MIM:608644 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO MIM:612444 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 MIM:617091 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP HPO MIM:243700 ORPHA:217390 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G FCGR3A Fc gamma receptor IIIa IAGP HPO MIM:615707 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO MIM:618449 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO MIM: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 MIM:240500 MIM:607594 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO MIM:601495 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP HPO MIM:618204 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:98813 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO MIM:613953 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G IL21R interleukin 21 receptor IAGP HPO MIM:615207 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO MIM:617765 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178 		JBrowse link
G IVNS1ABP influenza virus NS1A binding protein IAGP HPO MIM:618969 NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,296,388...185,317,273 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO MIM:300853 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO MIM:618695 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G MDM4 MDM4 regulator of p53 IAGP HPO MIM:618849 NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120 		JBrowse link
G MGP matrix Gla protein IAGP HPO ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO MIM:613960 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO MIM:618781 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO MIM: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 MIM:615577 ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO ORPHA:98813 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO MIM:620032 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 MIM:610852 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO MIM: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 MIM:615451 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO MIM:619281 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO MIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO MIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		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 RSPH1 radial spoke head component 1 IAGP HPO MIM:615481 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO MIM:612649 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO MIM:620670 MIM:620674 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 IAGP HPO MIM:300310 NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO MIM:615505 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO MIM:619707 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO MIM: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 MIM:614868 NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO MIM:613101 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO MIM:188400 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO MIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO MIM: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 MIM:240500 MIM:613494 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806 		JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 IAGP HPO MIM:620282 NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165 		JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO MIM: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 MIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO MIM:615444 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO MIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269 		JBrowse link
Recurrent upper and lower respiratory tract infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase IAGP HPO MIM:605258 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO ORPHA:275 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G MDFIC MyoD family inhibitor domain containing IAGP HPO MIM:620014 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:79329 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO 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 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 ORPHA:331206 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP HPO ORPHA:331206 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:171876 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:171876 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:171876 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G UNG uracil DNA glycosylase IAGP HPO MIM:608106 NCBI chr12:109,097,597...109,110,992
Ensembl chr12:109,097,597...109,126,725 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
Recurrent upper respiratory tract infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP HPO ORPHA:277 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO MIM:607143 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 ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP HPO MIM:618459 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150 		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 ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO MIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO MIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CD4 CD4 molecule IAGP HPO MIM:619238 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO ORPHA:263501 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G CORO1A coronin 1A IAGP HPO MIM:615401 NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 MIM:618332 ORPHA:592574 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 MIM:616100 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 MIM:193670 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 MIM:602450 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		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 DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 MIM:618333 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO MIM:618699 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G FOXN1 forkhead box N1 IAGP HPO MIM:618806 NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO MIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:423461 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GUSB glucuronidase beta IAGP HPO MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620296 NCBI chr20:32,052,242...32,101,856
Ensembl chr20:32,052,197...32,101,856 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO MIM:252930 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO MIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036 		JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP HPO MIM:233600 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G 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 IL6R interleukin 6 receptor IAGP HPO MIM:618944 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619752 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:169154 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G JAK3 Janus kinase 3 IAGP HPO MIM:600802 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO MIM:616784 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422 		JBrowse link
G KRT5 keratin 5 IAGP HPO MIM:619599 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:615758 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165 		JBrowse link
G LEP leptin IAGP HPO MIM:614962 ORPHA:66628 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor IAGP HPO MIM:614963 ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:308205 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		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 NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO MIM:252920 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		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 OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:300209 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP HPO ORPHA:589905 NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:616005 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLG plasminogen IAGP HPO MIM:217090 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G PLVAP plasmalemma vesicle associated protein IAGP HPO MIM:618183 NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO MIM: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 MIM: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 MIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO MIM:301835 ORPHA:1187 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit IAGP HPO MIM:617585 NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192 		JBrowse link
G RNH1 ribonuclease/angiogenin inhibitor 1 IAGP HPO MIM:620461 NCBI chr11:494,515...507,242
Ensembl chr11:494,512...507,300 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO MIM:252900 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		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 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 SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:147060 MIM: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 MIM:614868 NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021 		JBrowse link
G STX3 syntaxin 3 IAGP HPO MIM:619446 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO MIM:613101 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:352596 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP ClinVar Annotator: match by term: Upper respiratory tract infections ClinVar PMID:33586135 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO MIM:615518 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631 		JBrowse link
G UQCRH ubiquinol-cytochrome c reductase hinge protein IAGP HPO MIM:620137 NCBI chr 1:46,303,698...46,316,776
Ensembl chr 1:46,303,698...46,316,776 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO MIM:614069 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239 		JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A IAGP HPO MIM:619769 NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899 		JBrowse link
Recurrent viral upper respiratory tract infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR3A Fc gamma receptor IIIa IAGP HPO MIM:615707 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:619773 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO MIM:615577 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
Sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP HPO MIM:102700 ORPHA:277 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		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 BTK Bruton tyrosine kinase IAGP HPO MIM:307200 ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		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 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 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 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 CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 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 CYBA cytochrome b-245 alpha chain IAGP HPO ORPHA:379 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO ORPHA:379 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO ORPHA:379 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		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 DNAAF3 dynein axonemal assembly factor 3 IAGP HPO MIM:606763 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		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 MIM:242860 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		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 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:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:908 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		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 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 6:26,087,226...26,098,343 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775