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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 pulmonary interstitial morphology
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Accession:HP:0006530 term browser browse the term
Definition:Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.
Synonyms:exact_synonym: Abnormal lung parenchyma morphology;   Abnormality in area between air sacs in lung;   Interstitial lung disease;   Interstitial pulmonary disease
 alt_id: HP:0006513;   HP:0006547
 xref: EFO:0004244;   MESH:D017563;   SNOMEDCT_US:233703007;   UMLS:C0206062



show annotations for term's descendants           Sort by:
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
HPO
PMID:25741868 ORPHA:2032 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G AGR2 anterior gradient 2, protein disulphide isomerase family member IAGP HPO OMIM:620233 NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO OMIM:617050 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO ORPHA:2032 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO OMIM:612387 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G COPA COPI coat complex subunit alpha IAGP HPO OMIM:616414 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 DPP9 dipeptidyl peptidase 9 IAGP HPO ORPHA:2032 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:2032 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar
HPO
PMID:25741868 OMIM:617180 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP HPO ORPHA:2032 NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP HPO OMIM:619013 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP HPO OMIM:613658 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:230800 ORPHA:2072 ORPHA:77259 ORPHA:77261 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 HPO OMIM:181000 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 HPO OMIM:614748 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 LRRK2 leucine rich repeat kinase 2 IAGP ClinVar Annotator: match by term: Interstitial pulmonary disease ClinVar NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO OMIM:615486 ORPHA:401835 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP HPO ORPHA:2032 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 HPO ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G PADI4 peptidyl arginine deiminase 4 IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 NCBI chr 1:17,308,197...17,364,004
Ensembl chr 1:17,308,195...17,364,004
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP HPO OMIM:618458 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:2032 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:2032 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO ORPHA:2032 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP HPO ORPHA:2032 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPB surfactant protein B IAGP HPO ORPHA:217563 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 ClinVar Annotator: match by term: Interstitial lung disease HPO
ClinVar
PMID:25741868 ORPHA:2032 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO OMIM:607616 ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G STN1 STN1 subunit of CST complex IAGP HPO ORPHA:2032 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO OMIM:613101 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:2032 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 ClinVar Annotator: match by term: Interstitial lung disease ClinVar
HPO
PMID:25741868 PMID:28099038 PMID:28492532 PMID:31268371 PMID:33035329 ORPHA:2032 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO OMIM:613990 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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 HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
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
Bronchiolitis obliterans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP HPO OMIM:300755 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component IAGP HPO OMIM:617241 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 HPO OMIM:619802 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 HPO OMIM:615518 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
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 HPO OMIM:610921 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 HPO ORPHA:264675 NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  Y:1,268,800...1,310,381
Ensembl chr  X:1,268,800...1,310,381
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP HPO ORPHA:264675 NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:747 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
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 HPO OMIM:610921 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 HPO OMIM:610978 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G SFTPC surfactant protein C IAGP HPO OMIM:610913 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
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 HPO OMIM:610921 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G SFTPB surfactant protein B IAGP HPO OMIM:265120 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP HPO OMIM:610913 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 HPO OMIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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 HPO OMIM:610921 ORPHA:2032 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 HPO ORPHA:2032 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO ORPHA:2032 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:2032 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP HPO ORPHA:2032 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 HPO ORPHA:2032 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 HPO OMIM:616371 ORPHA:2032 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 HPO ORPHA:2032 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO ORPHA:2032 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP HPO ORPHA:2032 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C IAGP HPO ORPHA:2032 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 HPO ORPHA:2032 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:2032 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2032 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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 HPO ORPHA:133 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
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 HPO OMIM:265450 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 HPO OMIM:614370 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 HPO ORPHA:199241 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO OMIM:619611 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPB surfactant protein B IAGP HPO OMIM:265120 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 HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Interstitial pneumonitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK2 dedicator of cytokinesis 2 IAGP HPO OMIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:127,815,016...127,854,658
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 HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase IAGP HPO OMIM:620296 NCBI chr20:32,052,242...32,101,856
Ensembl chr20:32,052,197...32,101,856
JBrowse link
G 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 HPO OMIM:614878 NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685
JBrowse link
G RAG1 recombination activating 1 IAGP HPO ORPHA:231154 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G SFTPB surfactant protein B IAGP HPO ORPHA:217563 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP HPO OMIM:610913 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 SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO OMIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G TERC telomerase RNA component IAGP HPO OMIM:127550 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO OMIM:127550 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO OMIM:127550 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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 HPO OMIM:619611 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPC surfactant protein C IAGP HPO OMIM:610913 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
Lipoid pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 IAGP HPO OMIM:620326 NCBI chr 1:77,979,175...78,017,964
Ensembl chr 1:77,979,175...78,017,964
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 HPO ORPHA:133 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 HPO OMIM:618495 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 HPO OMIM:245590 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
Nodular 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 HPO OMIM:610921 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO OMIM:130050 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
Nonspecific interstitial pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP HPO OMIM:610921 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO OMIM:619611 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPC surfactant protein C IAGP HPO OMIM:610913 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
Peribronchovascular interstitial thickening term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC103 coiled-coil domain containing 103 IAGP HPO ORPHA:244 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO ORPHA:244 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO ORPHA:244 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO ORPHA:244 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO ORPHA:244 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO ORPHA:244 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO ORPHA:244 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO ORPHA:244 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP HPO ORPHA:244 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO ORPHA:244 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO ORPHA:244 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO ORPHA:244 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO ORPHA:244 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO ORPHA:244 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP HPO ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO ORPHA:244 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP HPO ORPHA:244 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO ORPHA:244 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:244 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO ORPHA:244 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO ORPHA:244 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO ORPHA:244 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO ORPHA:244 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Pulmonary fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP HPO OMIM:610921 ORPHA:2032 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO OMIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO ORPHA:2032 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G BACH2 BTB domain and CNC homolog 2 IAGP HPO OMIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843
JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP HPO ORPHA:243 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641
JBrowse link
G BNC1 basonuclin zinc finger protein 1 IAGP HPO ORPHA:243 NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
JBrowse link
G BRD9 bromodomain containing 9 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:863,741...892,801
Ensembl chr 5:850,291...892,801
JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO OMIM:612387 ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
JBrowse link
G CEP72 centrosomal protein 72 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:612,340...676,616
Ensembl chr 5:612,340...667,168
JBrowse link
G CLPTM1L CLPTM1 like IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO OMIM:612199 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO OMIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar
HPO
OMIM:305000 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO ORPHA:2032 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:2032 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO ORPHA:3337 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990
JBrowse link
G FAM111B FAM111 trypsin like peptidase B IAGP HPO OMIM:615704 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP HPO ORPHA:2032 NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:243 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
JBrowse link
G GATM glycine amidinotransferase IAGP HPO ORPHA:3337 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility
severity
no_association
IAGP DNA:missense mutation:cds:p.K173N
DNA:deletion: :
RGD PMID:15135176 PMID:10195071 PMID:20140303 RGD:12798510, RGD:12798506, RGD:12792246 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP DNA:polymorphism: HLA-A30 RGD PMID:24167351 RGD:329961313 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:29207 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:133 ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO OMIM:181000 ORPHA:220393 ORPHA:220402 ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO OMIM:203300 NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963
JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 IAGP HPO OMIM:614073 NCBI chr22:26,443,109...26,483,863
Ensembl chr22:26,443,107...26,483,931
JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO OMIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO OMIM:612852 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility IAGP DNA:missense mutation:cds:p.F196S (rs1059702) RGD PMID:21898345 RGD:7495782 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G IRX4 iroquois homeobox 4 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236
JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:220402 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950
JBrowse link
G KIF15 kinesin family member 15 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:35417304 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar PMID:9536098 PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 More... NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC110806264 TERT enhancer in intron 2 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:28492532 NCBI chr 5:1,286,474...1,287,720 JBrowse link
G LOC110806306 telomerase RNA component (TERC) promoter IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 More... NCBI chr 3:169,764,689...169,765,858 JBrowse link
G LPCAT1 lysophosphatidylcholine acyltransferase 1 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,461,427...1,523,960
Ensembl chr 5:1,456,480...1,523,962
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO OMIM:615486 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,798,385...1,801,434
Ensembl chr 5:1,798,385...1,801,366
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO ORPHA:243 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G MSH4 mutS homolog 4 IAGP HPO ORPHA:243 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP HPO OMIM:178500 ORPHA:2032 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar
HPO
PMID:25741868 PMID:28492532 OMIM:620365 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO OMIM:618913 ORPHA:3337 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO OMIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194
JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO OMIM:224230 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
JBrowse link
G NKD2 NKD inhibitor of WNT signaling pathway 2 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,008,802...1,038,943
Ensembl chr 5:1,008,802...1,038,943
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO OMIM:610978 ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO OMIM:224230 OMIM:620400 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP HPO OMIM:607625 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:243 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:243 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar
HPO
PMID:9736620 PMID:16199547 PMID:25741868 PMID:25848748 PMID:26482878 More... OMIM:616371 ORPHA:2032 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP HPO ORPHA:243 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP HPO ORPHA:243 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO OMIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 IAGP HPO OMIM:617175 NCBI chr13:49,531,946...49,585,558
Ensembl chr13:49,531,946...49,585,558
JBrowse link
G RNF168 ring finger protein 168 IAGP HPO OMIM:611943 ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G RPA1 replication protein A1 IAGP HPO OMIM:619767 NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar
HPO
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 More... OMIM:616373 ORPHA:2032 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 More... NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase exacerbates IAGP DNA:mutations:multiple RGD PMID:33533494 RGD:150429642 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO ORPHA:2032 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar
HPO
PMID:19100526 OMIM:178500 ORPHA:2032 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar
HPO
PMID:15039969 PMID:15293602 PMID:15572558 PMID:15756222 PMID:17597647 More... OMIM:178500 OMIM:610913 ORPHA:2032 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLC12A7 solute carrier family 12 member 7 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G SLC6A18 solute carrier family 6 member 18 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189
JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO ORPHA:79124 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
JBrowse link
G SPIDR scaffold protein involved in DNA repair IAGP HPO ORPHA:243 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association
IAGP DNA:SNPs:introns: (rs3821236, rs7574865, rs10168266)
DNA:SNP:intron: (rs7574865)
RGD PMID:23755762 PMID:19286670 RGD:8661701, RGD:8661714 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO OMIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G STN1 STN1 subunit of CST complex IAGP HPO ORPHA:2032 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G TERC telomerase RNA component IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar
HPO
PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 More... OMIM:127550 OMIM:614743 ORPHA:2032 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 ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar
HPO
PMID:9536098 PMID:12167716 PMID:12629597 PMID:15814878 PMID:15885610 More... OMIM:127550 OMIM:178500 OMIM:613989 OMIM:614742 ORPHA:2032 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G THOC2 THO complex subunit 2 IAGP HPO ORPHA:457240 NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis HPO
ClinVar
PMID:18252230 PMID:21536674 PMID:28492532 OMIM:127550 OMIM:613990 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO OMIM:619510 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
JBrowse link
G TP53 tumor protein p53 IAGP HPO OMIM:618165 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TPPP tubulin polymerization promoting protein IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:659,862...700,727
Ensembl chr 5:659,862...693,352
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
JBrowse link
G ZCCHC8 zinc finger CCHC-type containing 8 IAGP HPO OMIM:618674 NCBI chr12:122,471,600...122,500,932
Ensembl chr12:122,471,600...122,500,932
JBrowse link
G ZDHHC11 zinc finger DHHC-type containing 11 IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:795,605...860,563
Ensembl chr 5:795,605...858,973
JBrowse link
G ZDHHC11B zinc finger DHHC-type containing 11B IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr 5:710,355...784,729
Ensembl chr 5:710,355...784,729
JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO ORPHA:243 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
JBrowse link
Pulmonary interstitial high-resolution computed tomography abnormality term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:repeat, polymorphism:promoter, intron: RGD PMID:17876529 RGD:5684940 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
Pulmonary interstitial lymphocyte infiltration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO OMIM:606367 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
Reticular 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 HPO OMIM:610921 ORPHA:2032 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 HPO ORPHA:2032 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO ORPHA:2032 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:2032 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP HPO ORPHA:2032 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 HPO ORPHA:2032 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 HPO ORPHA:2032 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 HPO ORPHA:2032 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO ORPHA:2032 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP HPO ORPHA:2032 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C IAGP HPO ORPHA:2032 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 HPO ORPHA:2032 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:2032 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO OMIM:614742 ORPHA:2032 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
Reticulonodular pattern on pulmonary HRCT 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 HPO ORPHA:133 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
Usual interstitial pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP HPO OMIM:610921 ORPHA:2032 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 HPO ORPHA:2032 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO ORPHA:2032 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:2032 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP HPO ORPHA:2032 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 HPO OMIM:178500 ORPHA:2032 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 HPO ORPHA:2032 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 HPO OMIM:616373 ORPHA:2032 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase exacerbates IAGP DNA:mutations:multiple RGD PMID:33533494 RGD:150429642 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO OMIM:619611 ORPHA:2032 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP HPO OMIM:178500 ORPHA:2032 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C IAGP HPO OMIM:178500 ORPHA:2032 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 HPO ORPHA:2032 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:2032 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO OMIM:178500 OMIM:614742 ORPHA:2032 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the respiratory system 2475
        Abnormal respiratory system physiology 2465
          Abnormal respiratory system morphology 1618
            Abnormal lung morphology 1387
              Abnormal pulmonary interstitial morphology 198
                Anthracosis 0
                Bronchiolitis obliterans 2
                Bronchiolitis obliterans organizing pneumonia 2
                Desquamative interstitial pneumonitis 4
                Eosinophilic pneumonia 0
                Glycogen accumulation in pulmonary interstitial cells 0
                Honeycomb lung 14
                Hypersensitivity pneumonitis 1
                Interstitial pneumonitis + 21
                Intralobular interstitial thickening 0
                Lipoid pneumonia + 1
                Multiple pulmonary interstitial hyalinized nodules 0
                Peribronchovascular interstitial thickening 49
                Pleural cobblestoning 0
                Pulmonary Langerhans cell histiocytosis 0
                Pulmonary amyloidosis 0
                Pulmonary fibrosis + 105
                Pulmonary granulomatosis + 0
                Pulmonary interstitial high-resolution computed tomography abnormality + 26
                Pulmonary interstitial lymphocyte infiltration + 4
                Pulmonary necrosis 0
                Usual interstitial pneumonia 15
paths to the root