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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal lung morphology
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Accession:HP:0002088 term browser browse the term
Definition:Any structural anomaly of the lung.
Synonyms:exact_synonym: Abnormality of lung structure;   Abnormality of the lungs;   Abnormally shaped lung;   Unusal lung shape
 related_synonym: Lung disease
 xref: MESH:D008171;   SNOMEDCT_US:19829001;   UMLS:C0024115;   UMLS:C4021760



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Abnormal lung morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ORPHA:909 HPO NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP ORPHA:35173 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G MMP1 matrix metallopeptidase 1 susceptibility
no_association
IAGP DNA:insertion:promoter:g.-1607insG RGD PMID:11691799 PMID:19843588 RGD:7207021, RGD:7207056 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G NF1 neurofibromin 1 IAGP ORPHA:97685 HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP ORPHA:3389 HPO NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SOD1 superoxide dismutase 1 susceptibility IAGP DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) RGD PMID:22574884 RGD:8655661 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
Abnormal lung lobation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP ORPHA:744 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP ORPHA:79328 HPO NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP ORPHA:1052 HPO NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP ORPHA:1052 HPO NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP ORPHA:1052 HPO NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467
JBrowse link
G CEP57 centrosomal protein 57 IAGP OMIM:614114 ORPHA:1052 HPO NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 ORPHA:818 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP ORPHA:1270 HPO NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936
JBrowse link
G FANCB FA complementation group B IAGP OMIM:300514 HPO NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FOXF1 forkhead box F1 IAGP OMIM:265380 HPO NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ORPHA:2052 HPO 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 ORPHA:2052 HPO NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GDF1 growth differentiation factor 1 IAGP OMIM:208530 HPO NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:146510 ORPHA:672 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 HPO NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP OMIM:312870 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP OMIM:617667 ORPHA:2052 HPO NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G HIRA histone cell cycle regulator IAGP ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP OMIM:236680 HPO NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G LBR lamin B receptor IAGP OMIM:215140 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP ORPHA:3384 HPO NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP ORPHA:369837 HPO NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:3384 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:744 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508488 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G RSPO2 R-spondin 2 IAGP ORPHA:3301 HPO NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP ORPHA:567 HPO 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 ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP ORPHA:1052 HPO NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G WNT3 Wnt family member 3 IAGP ORPHA:3301 HPO NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
JBrowse link
G WT1 WT1 transcription factor IAGP ORPHA:3097 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
Abnormal pleura morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD28 CD28 molecule IAGP ORPHA:3162 HPO NCBI chr 2:203,706,465...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ORPHA:3162 HPO NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP ORPHA:1764 HPO NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ORPHA:2570 HPO NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735
JBrowse link
G GUSB glucuronidase beta IAGP ORPHA:584 HPO NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:29207 ORPHA:36426 ORPHA:397 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:397 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ORPHA:36426 HPO NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP ORPHA:397 HPO 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 ORPHA:397 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP ORPHA:3162 HPO NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
Abnormal pulmonary interstitial morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP OMIM:617050 HPO NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
JBrowse link
G BTNL2 butyrophilin like 2 IAGP OMIM:612387 HPO NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G COPA COPI coat complex subunit alpha IAGP OMIM:616414 HPO NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G ERF ETS2 repressor factor IAGP OMIM:617180 HPO NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP OMIM:619013 HPO NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP OMIM:613658 HPO NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP OMIM:230800 ORPHA:77259 ORPHA:77261 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP OMIM:181000 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G ITGA3 integrin subunit alpha 3 IAGP OMIM:614748 HPO NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 PMID:28492532 PMID:31268371 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP ORPHA:401835 HPO NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP OMIM:618458 HPO NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ORPHA:77259 HPO NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP ORPHA:77293 HPO NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP OMIM:613101 HPO NCBI chr19:7,637,110...7,647,873
Ensembl chr19:7,636,772...7,647,873
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 PMID:28099038 PMID:28492532 PMID:31268371 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP OMIM:619644 HPO NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
JBrowse link
Abnormal pulmonary vein morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase IAGP ORPHA:709 HPO NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ORPHA:199241 HPO NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
Abnormality of the pulmonary artery term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP ORPHA:90308 HPO NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP ORPHA:709 HPO NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ORPHA:500 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G EDNRB endothelin receptor type B IAGP ORPHA:895 HPO NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ORPHA:1065 HPO NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
JBrowse link
G KITLG KIT ligand IAGP ORPHA:895 HPO NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
JBrowse link
G LMNA lamin A/C IAGP ORPHA:363618 ORPHA:79474 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MITF melanocyte inducing transcription factor IAGP ORPHA:895 HPO NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
JBrowse link
G PAX6 paired box 6 IAGP ORPHA:1065 HPO NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ORPHA:500 HPO NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ORPHA:500 HPO NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G SNAI2 snail family transcriptional repressor 2 IAGP ORPHA:895 HPO NCBI chr 8:48,917,598...48,921,429
Ensembl chr 8:48,917,598...48,921,740
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ORPHA:895 HPO NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G TYR tyrosinase IAGP ORPHA:895 HPO NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
Abnormality of the pulmonary vasculature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP ClinVar Annotator: match by term: Abnormality of the pulmonary vasculature ClinVar PMID:9245985 PMID:12114496 PMID:15712271 PMID:15880681 PMID:16123970 More... NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G FOXC2 forkhead box C2 IAGP ORPHA:33001 HPO NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
JBrowse link
G PORCN porcupine O-acyltransferase IAGP ORPHA:2092 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
Absent bronchoalveolar dimeric surfactant-protein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPB surfactant protein B IAGP OMIM:265120 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
Absent bronchoalveolar surfactant-protein C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP OMIM:610921 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
Absent pulmonary artery term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRTAP cartilage associated protein IAGP OMIM:610682 HPO NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
JBrowse link
Acute infectious pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator IAGP ORPHA:60033 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha IAGP ORPHA:264675 HPO NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  X:1,268,800...1,310,381
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP ORPHA:264675 HPO NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP ORPHA:60033 HPO 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 ORPHA:60033 HPO 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 ORPHA:60033 HPO NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
Agenesis of pulmonary vessels term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP OMIM:601186 HPO NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
JBrowse link
Alveolar capillary dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXF1 forkhead box F1 IAGP OMIM:265380
ClinVar Annotator: match by term: Alveolar capillary dysplasia
HPO
ClinVar
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
Alveolar cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:211980 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CASP8 caspase 8 IAGP OMIM:211980 HPO NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP OMIM:211980 HPO NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447
JBrowse link
G EGFR epidermal growth factor receptor IAGP OMIM:211980 HPO NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP OMIM:211980 HPO NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP OMIM:211980 HPO NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G FASLG Fas ligand IAGP OMIM:211980 HPO NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G IRF1 interferon regulatory factor 1 IAGP OMIM:211980 HPO NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP OMIM:211980 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 IAGP OMIM:211980 HPO NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP OMIM:178500 HPO NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP OMIM:211980 HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta IAGP OMIM:211980 HPO NCBI chr11:111,688,000...111,766,389
Ensembl chr11:111,726,908...111,766,389
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP OMIM:211980 HPO NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G SFTPA2 surfactant protein A2 IAGP OMIM:178500 HPO NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:178500 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP OMIM:211980 HPO NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246
JBrowse link
G TERT telomerase reverse transcriptase IAGP OMIM:178500 HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
Anomalous origin of one pulmonary artery from ascending aorta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-6 NK2 homeobox 6 IAGP ORPHA:3384 HPO NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
JBrowse link
G PLXND1 plexin D1 IAGP ORPHA:3384 HPO NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
Anomalous pulmonary venous return term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 IAGP OMIM:616368 HPO NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP ORPHA:244 HPO NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
JBrowse link
G CCDC39 coiled-coil domain containing 39 IAGP ORPHA:244 HPO NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G CCDC40 coiled-coil domain containing 40 IAGP ORPHA:244 HPO NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP ORPHA:244 HPO NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CCNO cyclin O IAGP ORPHA:244 HPO NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP ORPHA:244 HPO NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP ORPHA:244 HPO NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ORPHA:244 HPO NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP ORPHA:99105 HPO NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP ORPHA:35107 HPO NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP ORPHA:2311 HPO NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP ORPHA:244 HPO NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ORPHA:244 HPO NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP ORPHA:244 HPO NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ORPHA:244 HPO NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP ORPHA:244 HPO NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP ORPHA:244 HPO NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP ORPHA:244 HPO NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ORPHA:244 HPO NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ORPHA:244 HPO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ORPHA:244 HPO NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ORPHA:244 HPO NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ORPHA:244 HPO NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP ORPHA:244 HPO NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP ORPHA:244 HPO NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP ORPHA:244 HPO NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP ORPHA:244 HPO NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G FOXJ1 forkhead box J1 IAGP ORPHA:244 HPO NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP ORPHA:244 HPO NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
JBrowse link
G GAS8 growth arrest specific 8 IAGP ORPHA:244 HPO NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ORPHA:2311 HPO NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ORPHA:244 HPO NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP ORPHA:2311 HPO NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ORPHA:244 HPO NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP ORPHA:244 HPO NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP ORPHA:2311 HPO NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754
JBrowse link
G NEK10 NIMA related kinase 10 IAGP ORPHA:244 HPO NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
JBrowse link
G NME8 NME/NM23 family member 8 IAGP ORPHA:244 HPO NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP ORPHA:244 HPO NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP ORPHA:244 HPO NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP ORPHA:244 HPO NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP ORPHA:244 HPO NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:244 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP ORPHA:2311 HPO NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP ORPHA:244 HPO NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
JBrowse link
G RSPH1 radial spoke head component 1 IAGP ORPHA:244 HPO NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
JBrowse link
G RSPH3 radial spoke head 3 IAGP ORPHA:244 HPO NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
JBrowse link
G RSPH4A radial spoke head component 4A IAGP ORPHA:244 HPO NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G RSPH9 radial spoke head component 9 IAGP ORPHA:244 HPO NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
JBrowse link
G SMAD2 SMAD family member 2 IAGP ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP ORPHA:244 HPO NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G SPEF2 sperm flagellar 2 IAGP ORPHA:244 HPO NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G STK36 serine/threonine kinase 36 IAGP ORPHA:244 HPO NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G TBX5 T-box transcription factor 5 IAGP ORPHA:392 HPO NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP ORPHA:244 HPO NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
JBrowse link
G WT1 WT1 transcription factor IAGP ORPHA:3097 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP ORPHA:244 HPO NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Aplasia/Hypoplasia of the lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:2725 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G CEP120 centrosomal protein 120 IAGP ORPHA:474 HPO NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP ORPHA:2970 HPO NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
JBrowse link
G CPLX1 complexin 1 IAGP ORPHA:280 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP ORPHA:280 HPO NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ORPHA:474 HPO 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 ORPHA:474 HPO 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 ORPHA:474 HPO NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:289 ORPHA:474 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ORPHA:289 HPO NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ORPHA:289 HPO NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:1860 ORPHA:93274 HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNB filamin B IAGP ORPHA:1263 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ORPHA:289 HPO NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ORPHA:2570 HPO NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:887 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IFT140 intraflagellar transport 140 IAGP ORPHA:474 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT172 intraflagellar transport 172 IAGP ORPHA:474 HPO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT80 intraflagellar transport 80 IAGP ORPHA:474 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ORPHA:280 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G NELFA negative elongation factor complex member A IAGP ORPHA:280 HPO NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ORPHA:280 HPO NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G IAGP ORPHA:280 HPO NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PORCN porcupine O-acyltransferase IAGP ORPHA:2092 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G RSPO2 R-spondin 2 IAGP ORPHA:3301 HPO NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:93298 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP ORPHA:93299 HPO NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:2635 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ORPHA:474 HPO NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G WDR19 WD repeat domain 19 IAGP ORPHA:474 HPO NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WNT3 Wnt family member 3 IAGP ORPHA:3301 HPO NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
JBrowse link
G WT1 WT1 transcription factor IAGP ORPHA:3097 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
Aspiration pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ORPHA:2020 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP ORPHA:444077 HPO NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ORPHA:1465 HPO 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 ORPHA:1465 HPO 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 ORPHA:1465 HPO NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79500 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CHAT choline O-acetyltransferase IAGP ClinVar Annotator: match by term: Aspiration pneumonia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ORPHA:1018 HPO NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545
JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP ORPHA:1018 HPO NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G DPF2 double PHD fingers 2 IAGP ORPHA:1465 HPO NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:220386 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:216340 HPO NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FOXH1 forkhead box H1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G GAS1 growth arrest specific 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
JBrowse link
G GLB1 galactosidase beta 1 IAGP ORPHA:79255 HPO NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ORPHA:99772 HPO NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ORPHA:2020 HPO NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP ORPHA:2020 HPO NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
JBrowse link
G LMNB1 lamin B1 IAGP ORPHA:99027 HPO NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G LRIF1 ligand dependent nuclear receptor interacting factor 1 IAGP OMIM:619477 HPO NCBI chr 1:110,874,957...110,963,922
Ensembl chr 1:110,947,190...110,963,965
JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP ORPHA:2020 HPO NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link
G MYL2 myosin light chain 2 IAGP ORPHA:2020 HPO NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G MYO1H myosin IH IAGP OMIM:619482 HPO NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523
JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP ORPHA:431361 HPO NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279
JBrowse link
G NODAL nodal growth differentiation factor IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP ORPHA:95232 HPO NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,210...2,685,615
JBrowse link
G PANK2 pantothenate kinase 2 IAGP ORPHA:216866 HPO NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP OMIM:301072 HPO NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP ORPHA:35069 HPO NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G PMM2 phosphomannomutase 2 IAGP ORPHA:79318 HPO NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G PTCD3 pentatricopeptide repeat domain 3 IAGP OMIM:619057 HPO NCBI chr 2:86,106,235...86,142,157
Ensembl chr 2:86,106,223...86,142,157
JBrowse link
G PTCH1 patched 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PURA purine rich element binding protein A IAGP ORPHA:314655 HPO NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP OMIM:617053 HPO NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP OMIM:619167 HPO NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SELENON selenoprotein N IAGP ORPHA:2020 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ORPHA:1465 HPO 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 ORPHA:1465 HPO 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 ORPHA:1465 HPO 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 ORPHA:1465 HPO 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 ORPHA:1465 HPO NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ORPHA:220386 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP OMIM:609528 HPO NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP ORPHA:1465 HPO 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 ORPHA:1465 HPO NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G STAG2 stromal antigen 2 IAGP ORPHA:93925 HPO NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G STIL STIL centriolar assembly protein IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP ORPHA:53351 HPO NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,222...71,532,374
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ORPHA:79500 HPO NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TDGF1 teratocarcinoma-derived growth factor 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G TFG trafficking from ER to golgi regulator IAGP ORPHA:90117 HPO NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP ORPHA:52368 HPO NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:2020 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TPM3 tropomyosin 3 IAGP ORPHA:2020 HPO NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
JBrowse link
G UBB ubiquitin B IAGP ORPHA:99772 HPO NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
JBrowse link
G ZIC2 Zic family member 2 IAGP ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 HPO NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
Bilateral basilar pulmonary fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:missense mutation:cds:p.K173N RGD PMID:15135176 RGD:12798510 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
Bilateral lung agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP OMIM:601186 HPO NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2753 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G WNT4 Wnt family member 4 IAGP OMIM:611812 HPO NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
JBrowse link
Bilateral trilobed lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP OMIM:613630 HPO NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G NODAL nodal growth differentiation factor IAGP OMIM:270100 HPO NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:306955 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
Bilobed right lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A IAGP OMIM:612284 HPO NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
Bronchiolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP ORPHA:90348 HPO NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ELN elastin IAGP ORPHA:90348 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FBLN5 fibulin 5 IAGP ORPHA:90348 HPO NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility IAGP associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) RGD PMID:23487427 RGD:40902982 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP OMIM:614878 HPO NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685
JBrowse link
G PLEC plectin IAGP ORPHA:254361 HPO NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP OMIM:615993 HPO NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP OMIM:266265 HPO NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP OMIM:604571 HPO NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP OMIM:604571 HPO NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TAPBP TAP binding protein IAGP OMIM:604571 HPO NCBI chr 6:33,299,694...33,314,078
Ensembl chr 6:33,299,694...33,314,284
JBrowse link
Bronchiolitis obliterans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP OMIM:300755 HPO NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component IAGP OMIM:617241 HPO NCBI chr15:29,264,989...29,269,822
Ensembl chr15:29,264,989...29,269,822
JBrowse link
Bronchiolitis obliterans organizing pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP OMIM:619802 HPO NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP OMIM:615518 HPO NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
JBrowse link
Bronchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLM BLM RecQ like helicase IAGP ORPHA:125 HPO NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP OMIM:601005 HPO NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP ORPHA:930 HPO NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP ORPHA:930 HPO NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP ORPHA:930 HPO NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP ORPHA:183675 HPO NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
JBrowse link
G IGKC immunoglobulin kappa constant IAGP ORPHA:183675 HPO NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
JBrowse link
G NOS1 nitric oxide synthase 1 IAGP ORPHA:930 HPO NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G RNF168 ring finger protein 168 IAGP ORPHA:420741 HPO NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP ORPHA:60025 HPO NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G SYK spleen associated tyrosine kinase IAGP OMIM:619381 HPO NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
Bronchogenic cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP ORPHA:744 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:2969 ORPHA:744 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
Cardiac total anomalous pulmonary venous connection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WT1 WT1 transcription factor IAGP OMIM:608978 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
Chronic bronchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ORPHA:64 HPO NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP OMIM:618131 HPO NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CCDC39 coiled-coil domain containing 39 IAGP OMIM:613807 HPO NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G CCDC40 coiled-coil domain containing 40 IAGP OMIM:613808 HPO NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP OMIM:615504 HPO NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP OMIM:615500 HPO NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP OMIM:211400 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP OMIM:614935 HPO NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP OMIM:614874 HPO NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP OMIM:242860 HPO NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G GUSB glucuronidase beta IAGP OMIM:253220 HPO NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP OMIM:608647 HPO NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP OMIM:615451 HPO NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP OMIM:616037 HPO NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP OMIM:618986 HPO NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RSPH4A radial spoke head component 4A IAGP OMIM:612649 HPO NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP OMIM:613021 HPO 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 OMIM:211400 HPO 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 OMIM:613071 HPO NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
G SERPINA1 serpin family A member 1 IAGP OMIM:613490 HPO NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP OMIM:615505 HPO NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP OMIM:614069 HPO NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP OMIM:615444 HPO NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Chylothorax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP ORPHA:2136 HPO NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP OMIM:619036 HPO NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:163950 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BTNL2 butyrophilin like 2 IAGP ORPHA:797 HPO NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G CBL Cbl proto-oncogene IAGP OMIM:613563 HPO NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP ORPHA:2136 HPO NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G EPHB4 EPH receptor B4 IAGP ORPHA:137667 HPO NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ORPHA:2136 HPO NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:797 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G KIF11 kinesin family member 11 IAGP ORPHA:2526 HPO NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP OMIM:163950 HPO NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP OMIM:616843 HPO NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP OMIM:163950 HPO NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ORPHA:137667 HPO NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ORPHA:538 HPO NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ORPHA:538 HPO NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Congenital alveolar dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WT1 WT1 transcription factor IAGP OMIM:608978 HPO NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
Congenital lobar overinflation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 IAGP OMIM:600987 HPO NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
JBrowse link
Congenital pulmonary airway malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ORPHA:436252 HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP ORPHA:436252 HPO NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
JBrowse link
Crazy paving pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP OMIM:610921 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha IAGP ORPHA:264675 HPO NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  X:1,268,800...1,310,381
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP ORPHA:264675 HPO NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:747 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
Cystic pattern on pulmonary HRCT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP OMIM:610921 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
Desquamative interstitial pneumonitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP OMIM:610921 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G SFTPB surfactant protein B IAGP OMIM:265120 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP OMIM:615952 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
Diffuse alveolar hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ORPHA:199241 HPO NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382
JBrowse link
G HMOX1 heme oxygenase 1 IAGP OMIM:614034 HPO NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP OMIM:616050 HPO NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
Elevated bronchoalveolar lavage fluid eosinophil proportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPA1 surfactant protein A1 IAGP OMIM:619611 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
Elevated bronchoalveolar lavage fluid lymphocyte proportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTNL2 butyrophilin like 2 IAGP OMIM:612387 HPO NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP OMIM:181000 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
Elevated bronchoalveolar lavage fluid neutrophil proportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP OMIM:178500 HPO NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G SFTPA1 surfactant protein A1 IAGP OMIM:619611 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP OMIM:178500 HPO NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:178500 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G TERT telomerase reverse transcriptase IAGP OMIM:178500 HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
Emphysema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP ORPHA:90348 HPO NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G BTNL2 butyrophilin like 2 IAGP OMIM:612387 HPO NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G CD19 CD19 molecule IAGP ORPHA:1572 HPO NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD81 CD81 molecule IAGP ORPHA:1572 HPO NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP OMIM:613804 HPO NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP ORPHA:60033 HPO NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CR2 complement C3d receptor 2 IAGP ORPHA:1572 HPO NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G DHX34 DExH-box helicase 34 IAGP ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:31256877 NCBI chr19:47,349,315...47,382,704
Ensembl chr19:47,349,315...47,382,704
JBrowse link
G DNASE1L3 deoxyribonuclease 1 like 3 IAGP ORPHA:36412 HPO NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP ORPHA:289 HPO NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP OMIM:614437 ORPHA:90349 HPO NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
JBrowse link
G ELN elastin IAGP OMIM:123700 ORPHA:90348 HPO NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ORPHA:289 HPO NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ORPHA:289 HPO NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP OMIM:613658 HPO NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
G FBLN5 fibulin 5 IAGP OMIM:219100 ORPHA:90348 ORPHA:90349 HPO NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:154700 ORPHA:284979 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FLCN folliculin IAGP ORPHA:122 HPO NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
JBrowse link
G GLA galactosidase alpha IAGP ORPHA:324 HPO NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ORPHA:289 HPO NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GMNN geminin DNA replication inhibitor IAGP OMIM:616835 HPO NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP OMIM:181000 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G ICOS inducible T cell costimulator IAGP ORPHA:1572 HPO NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IPO8 importin 8 IAGP OMIM:619472 HPO NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:1572 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G LMNA lamin A/C IAGP ORPHA:363618 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP ORPHA:90349 HPO NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP OMIM:613177 HPO NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
JBrowse link
G MGP matrix Gla protein IAGP OMIM:245150 HPO NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP ORPHA:1572 HPO NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP OMIM:618913 HPO NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP ORPHA:1572 HPO NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP ORPHA:1572 HPO NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP OMIM:224690 HPO NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G PRKCD protein kinase C delta IAGP ORPHA:1572 HPO NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G RHOH ras homolog family member H IAGP OMIM:618307 HPO NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP ORPHA:60033 HPO 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 ORPHA:60033 HPO 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 ORPHA:60033 HPO NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
G SERPINA1 serpin family A member 1 IAGP ORPHA:60 HPO NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SON SON DNA and RNA binding protein IAGP ORPHA:500150 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP ORPHA:634 HPO NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP OMIM:604571 HPO NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP OMIM:604571 HPO NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TAPBP TAP binding protein IAGP OMIM:604571 HPO NCBI chr 6:33,299,694...33,314,078
Ensembl chr 6:33,299,694...33,314,284
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP OMIM:614816 HPO NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ORPHA:1572 HPO 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 ORPHA:1572 HPO 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 ORPHA:1572 HPO NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ORPHA:538 HPO NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ORPHA:538 HPO NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Fibrocystic lung disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP OMIM:158310 HPO NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
Hemosiderin-laden macrophages in bronchoalveolar fluid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPA COPI coat complex subunit alpha IAGP OMIM:616414 HPO NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
JBrowse link
Hemothorax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ORPHA:199241 HPO NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G ENG endoglin IAGP OMIM:187300 HPO NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G SERPINF2 serpin family F member 2 IAGP OMIM:262850 ORPHA:79 HPO NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265
JBrowse link
Honeycomb lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ORPHA:2032 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP ORPHA:2032 HPO NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP ORPHA:2032 HPO NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin IAGP ORPHA:2032 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP ORPHA:2032 HPO NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP ORPHA:2032 HPO NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP OMIM:616371 HPO NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ORPHA:2032 HPO NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SFTPA1 surfactant protein A1 IAGP ORPHA:2032 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP ORPHA:2032 HPO NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C IAGP ORPHA:2032 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G STN1 STN1 subunit of CST complex IAGP ORPHA:2032 HPO NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G TERC telomerase RNA component IAGP ORPHA:2032 HPO 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 ORPHA:2032 HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
Hyaline membranes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUF1 GTP binding elongation factor GUF1 IAGP OMIM:617065 HPO NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928
JBrowse link
Hypersensitivity pneumonitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:133 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
Hypoplastic pulmonary veins term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRTAP cartilage associated protein IAGP OMIM:610682 HPO NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
JBrowse link
G GDF1 growth differentiation factor 1 IAGP OMIM:613854 HPO NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
JBrowse link
G RSPO2 R-spondin 2 IAGP OMIM:618021 HPO NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
Interlobular septal thickening term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 IAGP OMIM:265450 HPO NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP OMIM:614370 HPO NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ORPHA:199241 HPO NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G SFTPA1 surfactant protein A1 IAGP OMIM:619611 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPB surfactant protein B IAGP OMIM:265120 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP ORPHA:60025 HPO NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Interstitial emphysema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha IAGP OMIM:619708 HPO NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
Interstitial pneumonitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENG endoglin IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:29979980 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
G FOXP3 forkhead box P3 IAGP ORPHA:37042 HPO NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G IDUA alpha-L-iduronidase IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP OMIM:614878 HPO NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685
JBrowse link
G RAG1 recombination activating 1 IAGP ORPHA:231154 HPO NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G SFTPB surfactant protein B IAGP ORPHA:217563 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP OMIM:615952 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TERC telomerase RNA component IAGP OMIM:127550 HPO 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 OMIM:127550 HPO 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 OMIM:127550 HPO NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
Intraalveolar nodular calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC34A2 solute carrier family 34 member 2 IAGP OMIM:265100 HPO NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Intraalveolar phospholipid accumulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP OMIM:610921 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha IAGP OMIM:300770 HPO NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  X:1,268,800...1,310,381
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP OMIM:614370 HPO NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:747 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP OMIM:615486
ClinVar Annotator: match by term: Pulmonary alveolar proteinosis
HPO
ClinVar
PMID:25913036 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G OAS1 2'-5'-oligoadenylate synthetase 1 IAGP OMIM:618042 HPO NCBI chr12:112,906,962...112,933,219
Ensembl chr12:112,905,856...112,933,219
JBrowse link
G SFTPB surfactant protein B IAGP OMIM:265120 ORPHA:217563 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP OMIM:222700 ORPHA:470 HPO NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
JBrowse link
Intralobular septal thickening term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPA1 surfactant protein A1 IAGP OMIM:619611 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
Lung adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:18923525 PMID:20979473 PMID:21030459 PMID:21575866 PMID:21791641 More... NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:1316610 PMID:1338764 PMID:2281069 PMID:8187091 PMID:8381579 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:47,561,205...47,571,908
Ensembl chr  X:47,561,205...47,571,908
JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:26619011 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP OMIM:614327 HPO NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma
OMIM:211980
ClinVar
HPO
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CASP8 caspase 8 IAGP OMIM:211980 HPO NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CDK12 cyclin dependent kinase 12 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr17:39,461,486...39,567,559
Ensembl chr17:39,461,486...39,564,907
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:7780957 PMID:8521414 PMID:9324288 PMID:10491434 PMID:16234564 More... NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 susceptibility IAGP DNA:missense mutation:CDS:p.D140E (rs7479004) RGD PMID:29667179 RGD:151660359 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
JBrowse link
G CSF1R colony stimulating factor 1 receptor susceptibility IAGP DNA:missense mutation:CDS:p.H362R (rs10079250) RGD PMID:25144241 RGD:150524283 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNP:3' utr: (rs4809957) RGD PMID:22797725 RGD:151665791 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP OMIM:211980 HPO NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:21067377 PMID:21518476 PMID:22160010 PMID:22744846 PMID:22898539 More... NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Lung adenocarcinoma
OMIM:211980
ClinVar
HPO
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 More... NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EGFR-AS1 EGFR antisense RNA 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:25741868 NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,188,977
JBrowse link
G EPHA5 EPH receptor A5 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:16140923 NCBI chr 4:65,319,567...65,670,489
Ensembl chr 4:65,319,563...65,670,495
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma
OMIM:211980
ClinVar
HPO
PMID:15457249 PMID:22908275 PMID:24033266 PMID:26619011 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP OMIM:211980 HPO NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G FASLG Fas ligand IAGP OMIM:211980 HPO NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma 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 FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:1908846 PMID:7773297 PMID:8858131 PMID:9677066 PMID:10073901 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FGFR4 fibroblast growth factor receptor 4 exacerbates IAGP RGD PMID:19296538 RGD:150429981 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IRF1 interferon regulatory factor 1 IAGP OMIM:211980 HPO NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma
OMIM:211980
ClinVar
HPO
PMID:2278970 PMID:3122217 PMID:6320174 PMID:11745231 PMID:12460918 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRP1B LDL receptor related protein 1B disease_progression IAGP DNA:mutations:multiple RGD PMID:18948947 RGD:11064706 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:18632602 PMID:21383288 PMID:22197931 PMID:22588879 PMID:23444215 More... NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 IAGP OMIM:211980 HPO NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833
JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP OMIM:618913 HPO NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:26619011 PMID:29018201 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma 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 PACRG parkin coregulated IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:12719539 NCBI chr 6:162,727,132...163,315,500
Ensembl chr 6:162,727,132...163,315,500
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Lung adenocarcinoma
OMIM:211980
ClinVar
HPO
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 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta IAGP OMIM:211980 HPO NCBI chr11:111,688,000...111,766,389
Ensembl chr11:111,726,908...111,766,389
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma
OMIM:211980
ClinVar
HPO
PMID:12719539 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:26619011 PMID:26822237 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:1760348 PMID:8601312 PMID:10064593 PMID:12077328 PMID:17603482 More... NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:26619011 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:23724914 NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase exacerbates IAGP DNA:mutations:multiple RGD PMID:27687306 RGD:150429649 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP OMIM:211980 HPO NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246
JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 More... NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:26619011 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:10408777 PMID:12865922 PMID:15863673 PMID:16287113 PMID:16582077 More... NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TP53 tumor protein p53 IAGP OMIM:151623 ORPHA:1501
ClinVar Annotator: match by term: Lung adenocarcinoma
HPO
ClinVar
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570
JBrowse link
G ZFHX3 zinc finger homeobox 3 ameliorates IAGP DNA:mutations:multiple RGD PMID:32653938 RGD:151361163 NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871
JBrowse link
Lymphocytic interstitial pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:133 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP OMIM:618495 HPO NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP OMIM:245590 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
Misalignment of the pulmonary veins term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXF1 forkhead box F1 IAGP OMIM:265380 HPO NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G SFTPB surfactant protein B IAGP OMIM:265120 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
Multiple pulmonary cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLCN folliculin IAGP OMIM:135150 HPO NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP OMIM:619418 HPO NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
JBrowse link
Neoplasia of the pleura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAB2 NGFI-A binding protein 2 IAGP ORPHA:2126 HPO NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476
JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP ORPHA:2126 HPO NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
JBrowse link
Neoplasm of the lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP ORPHA:79501 HPO NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ORPHA:744 HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:20979473 PMID:21575866 PMID:22277784 PMID:24327273 PMID:24670165 More... NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:19197335 PMID:20077502 PMID:25741868 PMID:26467025 PMID:26738429 More... NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:21515830 PMID:24465802 PMID:26253951 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:8554067 PMID:9760198 PMID:10486320 PMID:11739404 PMID:11802209 More... NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ORPHA:654 HPO NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ORPHA:524 HPO NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP DNA:missense mutation:CDS p.D140E (rs7479004) RGD PMID:25407497 RGD:153323305 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ORPHA:524
ClinVar Annotator: match by term: Lung cancer
HPO
ClinVar
PMID:16883537 PMID:18484200 PMID:21244692 PMID:21618645 PMID:23318652 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit onset IAGP DNA:SNP:exon 2: rs8040868(T>C) (human) RGD PMID:29416783 RGD:151361155 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit susceptibility IAGP DNA:SNP:3'utr: (rs1948)C>T (human) RGD PMID:29416783 RGD:151361155 NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754
JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP ORPHA:79501 HPO NCBI chr 8:120,123,757...120,373,573
Ensembl chr 8:120,059,780...120,373,573
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 sexual_dimorphism IAGP