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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:pulmonary fibrosis
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Accession:DOID:3770 term browser browse the term
Definition:An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. (DO)
Synonyms:exact_synonym: Fibrosing Alveolitis;   fibrosing alveolitides;   fibrosis of lung;   pulmonary fibroses
 primary_id: MESH:D011658
 xref: EFO:0009448;   NCI:C26869
For additional species annotation, visit the Alliance of Genome Resources.


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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G ACE angiotensin I converting enzyme ISO
EXP		 associated with Lung Injury;protein:decreased expression:lung
CTD Direct Evidence: therapeutic
associated with Hypertension
associated with Radiation Pneumonitis		 CTD
RGD		 PMID:33007385 PMID:20581171 PMID:20651228 PMID:17506718 PMID:17506716 RGD:4140483, RGD:4140478, RGD:4140923, RGD:4140925 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO
EXP		 CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:27550926 PMID:33007385 PMID:20581171 RGD:4140483 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:30639579 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing EXP CTD Direct Evidence: therapeutic CTD PMID:25945502 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP
ISO		 mRNA:decreased expression:lung (human)
mRNA, protein:decreased expression:lung		 RGD PMID:22669512 PMID:24226635 RGD:7245533, RGD:8695997 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen treatment ISO
EXP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:28960804 PMID:31181250 PMID:24168260 RGD:11039408 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:18500976 RGD:5147454 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:18500976 RGD:5147454 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase IEP protein:altered localization:alveolar macrophage, nuclear membrane RGD PMID:8621765 RGD:4890430 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119 		JBrowse link
G ANXA1 annexin A1 ISO protein:decreased expression:lung RGD PMID:9269316 RGD:2306948 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP RGD PMID:12125811 RGD:1578409 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762 		JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G AREG amphiregulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:26817844 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005 		JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO protein:increased expression:lung RGD PMID:24127863 RGD:14390076 NCBI chr11:134,378,504...134,412,242
Ensembl chr11:134,378,504...134,412,242 		JBrowse link
G BAD BCL2 associated agonist of cell death ISO RGD PMID:18198484 RGD:2292680 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704 		JBrowse link
G BDKRB1 bradykinin receptor B1 IDA RGD PMID:20451601 RGD:5129229 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967 		JBrowse link
G BDNF brain derived neurotrophic factor IEP protein:increased expression:sputum RGD PMID:12917229 RGD:4891121 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BMP7 bone morphogenetic protein 7 EXP CTD Direct Evidence: therapeutic CTD PMID:17975199 PMID:25733726 NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G BRD4 bromodomain containing 4 treatment ISO RGD PMID:23759512 RGD:9586353 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CALCA calcitonin related polypeptide alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:17365031 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354 		JBrowse link
G CALR calreticulin ISO protein:increased expression:lung RGD PMID:18563736 RGD:2326172 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CAT catalase IEP
EXP		 mRNA, protein:decreased expression:lung
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:19684199 PMID:21190578 RGD:5130199 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CAV1 caveolin 1 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:36053221 PMID:18759267 RGD:8661773 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 IEP
EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16314464 PMID:17620002 PMID:17620002 PMID:16314464 RGD:4145458, RGD:4145395 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO
IEP		 mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion		 RGD PMID:15993846 PMID:19715610 RGD:2306304, RGD:4145488 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 IEP mRNA:increased expression:lung RGD PMID:17717200 RGD:5130910 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO
EXP		 CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung, eosinophil (rat)		 CTD
RGD		 PMID:16324872 PMID:17720292 PMID:26163174 PMID:20833968 PMID:7525714 RGD:4145112, RGD:8549730 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 IEP mRNA:increased expression:lung RGD PMID:17717200 RGD:5130910 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO
IEP		 mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion		 RGD PMID:15993846 PMID:19715610 RGD:2306304, RGD:4145488 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189 		JBrowse link
G CCL3 C-C motif chemokine ligand 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324872 PMID:17720292 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17720292 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO
EXP		 protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17620002 PMID:20833968 RGD:4145112 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCN2 cellular communication network factor 2 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844 PMID:19154443 RGD:2314537 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14609568 PMID:15743780 RGD:4145065 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO
EXP		 associated with Lung Injury
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16314464 PMID:16314464 RGD:4145395 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO mRNA:increased expression:lung RGD PMID:15993846 RGD:2306304 NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,957,120 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO
IEP		 mRNA:increased expression:lung (mouse)
protein:decreased expression:lung, lymphocyte (human)		 RGD PMID:19762220 PMID:15802346 RGD:4145622, RGD:4892101 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CCR8 C-C motif chemokine receptor 8 ISO mRNA:increased expression:lung RGD PMID:15993846 RGD:2306304 NCBI chr 3:39,329,709...39,333,680
Ensembl chr 3:39,329,709...39,333,680 		JBrowse link
G CD28 CD28 molecule ISO RGD PMID:20395561 RGD:4892281 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) severity ISO associated with Silicosis RGD PMID:19439069 PMID:20056742 RGD:2307220, RGD:6893557 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung, dendritic cell (mouse) RGD PMID:20395561 RGD:4892281 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CDH1 cadherin 1 IEP
ISO		 RGD PMID:20495078 PMID:16924102 RGD:5132892, RGD:5132890 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha EXP CTD Direct Evidence: therapeutic CTD PMID:29078374 NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17177178 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,734...50,192,690 		JBrowse link
G CFD complement factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:22832039 NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity IEP protein:increased secretion:serum, lung (human) RGD PMID:20888745 RGD:4892653 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IMP RGD PMID:18480105 RGD:5133440 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G CMA1 chymase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15297733 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO associated with Middle East respiratory syndrome; RGD PMID:7511187 PMID:31838832 PMID:17579094 RGD:7257543, RGD:30309204, RGD:11041177 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:7511187 RGD:7257543 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL3A1 collagen type III alpha 1 chain disease_progression EXP
ISO		 CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;		 CTD
RGD		 PMID:26817844 PMID:31838832 RGD:30309204 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CSF2 colony stimulating factor 2 ISO
EXP		 mRNA:increased expression:lung:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17894541 PMID:9881949 RGD:10449530 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17894541 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 treatment EXP
IMP		 CTD Direct Evidence: marker/mechanism
human recombinant protein in a mouse model		 CTD
RGD		 PMID:17266442 PMID:17894541 PMID:28011398 RGD:150520199 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:18836137 RGD:5134989 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO associated with Lung Injury RGD PMID:15254596 RGD:5135446 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511 		JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO associated with Pneumonia
mRNA:increased expression:lung		 RGD PMID:14970333 PMID:20959046 RGD:4847792, RGD:4781441 NCBI chr  X:78,271,468...78,327,611
Ensembl chr  X:78,271,468...78,327,691 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15328359 PMID:20497024 PMID:15328359 RGD:4781445, RGD:5143997 NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226 		JBrowse link
G DEFB1 defensin beta 1 IEP protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936 		JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNM1L dynamin 1 like ISO
IEP		 mRNA,protein:increased expression:lung,mitochondrion RGD PMID:25284615 PMID:25284615 RGD:35673291, RGD:35673291 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DSP desmoplakin EXP CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G EDN1 endothelin 1 ISO
EXP
IEP		 protein:increased expression:lung, airway epithelium, leukocyte (rat)
CTD Direct Evidence: marker/mechanism
Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human)
associated with Scleroderma, Systemic; protein:increased expression:lung (human)		 CTD
RGD		 PMID:17235729 PMID:9279246 PMID:8099638 PMID:9284832 RGD:4144892, RGD:4144889, RGD:4144866 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EGF epidermal growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17266442 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:increased expression:lung (rat) RGD PMID:7524566 PMID:21177177 PMID:8879184 RGD:5131873, RGD:5131634, RGD:5131638 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EGR1 early growth response 1 disease_progression IEP
ISO		 mRNA:increased expression:lung (human)
mRNA:increased expression:lung (mouse)		 RGD PMID:19347046 PMID:19679873 PMID:20539010 RGD:4144870, RGD:5131644, RGD:5131877 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:19995276 RGD:10450562 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G ELN elastin EXP CTD Direct Evidence: marker/mechanism CTD PMID:10761639 PMID:26817844 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21312187 RGD:5147767 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V severity ISO RGD PMID:11307811 RGD:11564339 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FAM13A family with sequence similarity 13 member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398 		JBrowse link
G FGF1 fibroblast growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070 		JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8952537 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15677771 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775 		JBrowse link
G FN1 fibronectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26817844 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30658076 NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452 		JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:23739137 RGD:401700390 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist EXP CTD Direct Evidence: marker/mechanism CTD PMID:17975199 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 IEP associated with Scleroderma, Systemic RGD PMID:17044913 RGD:4142516 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G HABP2 hyaluronan binding protein 2 ISO RGD PMID:20818495 RGD:11353855 NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602 		JBrowse link
G HGF hepatocyte growth factor IEP
EXP		 associated with myositis;protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16324872 PMID:8952317 RGD:8548628 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G HMGB1 high mobility group box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27616297 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597 		JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15814490 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 ISO protein:decreased expression:lung (rat) RGD PMID:24670792 RGD:10445835 NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A EXP CTD Direct Evidence: therapeutic CTD PMID:37307957 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946 		JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B EXP CTD Direct Evidence: therapeutic CTD PMID:37307957 NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO mRNA,protein:increased expression:lungs RGD PMID:22227563 RGD:5685632 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:11746186 RGD:12910545 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (rat) RGD PMID:19254480 RGD:4145516 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15286697 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP RGD PMID:15681824 RGD:1626120 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 IEP RGD PMID:15681824 RGD:1626120 NCBI chr 2:216,672,105...216,695,549
Ensembl chr 2:216,672,105...216,695,549 		JBrowse link
G IL12B interleukin 12B ISO
EXP		 protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12193738 PMID:18598692 PMID:20176803 RGD:4889581, RGD:4888529 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL13 interleukin 13 treatment IEP
EXP
ISO		 idiopathic pulmonary fibrosis
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15322207 PMID:19654941 PMID:20176803 PMID:19154443 RGD:4145627, RGD:4888529, RGD:2314537 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL15 interleukin 15 IEP RGD PMID:21309737 RGD:5147438 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987 		JBrowse link
G IL17A interleukin 17A IEP
ISO		 Idiopathic Pulmonary Fibrosis
protein:increased expression:lung, bronchioalveolar lavage fluid (rat)		 RGD PMID:20176803 PMID:24721403 PMID:18338242 PMID:20176803 RGD:4888529, RGD:9179762, RGD:4889110, RGD:4888529 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL18 interleukin 18 IEP
ISO		 idiopathic pulmonary fibrosis; protein:increased expression:lung, serum RGD PMID:15308504 PMID:18598692 RGD:4889841, RGD:4889581 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL18R1 interleukin 18 receptor 1 IEP protein:increased expression:lung RGD PMID:15308504 RGD:4889841 NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777 		JBrowse link
G IL1A interleukin 1 alpha IAGP
ISO		 idiopathic pulmonary fibrosis; DNA:polymorphism:promoter:
mRNA, protein:increased expression:alveolar macrophage:		 RGD PMID:17309781 PMID:9100454 RGD:4142803, RGD:4142838 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta ISO
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:lung		 CTD
RGD		 PMID:17266442 PMID:23640035 PMID:19945540 PMID:23132788 PMID:20522787 RGD:4142813, RGD:7193137, RGD:4142535 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility
disease_progression		 IAGP
EXP
IEP		 DNA:polymorphism (human)
CTD Direct Evidence: therapeutic
protein:increased expression:lung		 CTD
RGD		 PMID:18403674 PMID:10934117 PMID:17056243 PMID:7767546 RGD:4143177, RGD:4142874, RGD:4143194 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL4 interleukin 4 treatment ISO
EXP		 associated with Silicosis;protein:increased expression:respiratory system fluid/secretion
CTD Direct Evidence: marker/mechanism
associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung		 CTD
RGD		 PMID:12574379 PMID:15322207 PMID:20490462 PMID:24269241 PMID:20861649 RGD:5128555, RGD:10402793, RGD:5128548 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL5 interleukin 5 ISO
EXP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung		 CTD
RGD		 PMID:17620002 PMID:14975941 PMID:17986108 RGD:4890954, RGD:4890942 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838 		JBrowse link
G IL6 interleukin 6 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17266442 PMID:25216247 PMID:20846163 RGD:4143241 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL9 interleukin 9 ISO associated with Silicosis RGD PMID:11306428 RGD:5128702 NCBI chr 5:135,892,246...135,895,841
Ensembl chr 5:135,892,246...135,895,841 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO protein:increased expression:lung RGD PMID:27982686 RGD:155663660 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		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 LAMB1 laminin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28444932 NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213 		JBrowse link
G LEPR leptin receptor ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21317313 RGD:5128773 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LIAS lipoic acid synthetase EXP CTD Direct Evidence: therapeutic CTD PMID:32017981 NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109 		JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:20301779 PMID:21931702 PMID:25741868 PMID:28492532 PMID:30995915 More... NCBI chr 5:1,294,628...1,298,988 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 MBL2 mannose binding lectin 2 IAGP associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:18637104 RGD:4889479 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MECP2 methyl-CpG binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21435439 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MFN2 mitofusin 2 treatment ISO RGD PMID:24912636 RGD:13204824 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MIR100HG mir-100-let-7a-2-mir-125b-1 cluster host gene EXP CTD Direct Evidence: therapeutic CTD PMID:35472619 NCBI chr11:122,028,329...122,422,871
Ensembl chr11:122,028,325...122,556,721 		JBrowse link
G MIR101-1 microRNA 101-1 EXP CTD Direct Evidence: therapeutic CTD PMID:28726637 NCBI chr 1:65,058,434...65,058,508
Ensembl chr 1:65,058,434...65,058,508 		JBrowse link
G MIR10A microRNA 10a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947 		JBrowse link
G MIR122 microRNA 122 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158 		JBrowse link
G MIR125A microRNA 125a EXP CTD Direct Evidence: therapeutic CTD PMID:30658076 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339 		JBrowse link
G MIR140 microRNA 140 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:25926378 PMID:32462952 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180 		JBrowse link
G MIR145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733 		JBrowse link
G MIR193A microRNA 193a EXP CTD Direct Evidence: therapeutic CTD PMID:30744607 NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083 		JBrowse link
G MIR200C microRNA 200c EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:25926378 PMID:29113749 NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766 		JBrowse link
G MIR21 microRNA 21 treatment ISO RGD PMID:29084974 RGD:41404715 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MIR223 microRNA 223 disease_progression ISO RGD PMID:32329871 RGD:25824948 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979 		JBrowse link
G MIR23C microRNA 23c EXP CTD Direct Evidence: therapeutic CTD PMID:29216763 NCBI chr  X:20,017,088...20,017,187
Ensembl chr  X:20,017,088...20,017,187 		JBrowse link
G MIR26B microRNA 26b EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 2:218,402,646...218,402,722
Ensembl chr 2:218,402,646...218,402,722 		JBrowse link
G MIR29C microRNA 29c EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939 		JBrowse link
G MIR30A microRNA 30a EXP
ISO		 CTD Direct Evidence: marker/mechanism
RNA:decreased expression:lung		 CTD
RGD		 PMID:25926378 PMID:25284615 RGD:35673291 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621 		JBrowse link
G MIR326 microRNA 326 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr11:75,335,092...75,335,186
Ensembl chr11:75,335,092...75,335,186 		JBrowse link
G MIR345 microRNA 345 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr14:100,307,859...100,307,956
Ensembl chr14:100,307,859...100,307,956 		JBrowse link
G MIR378A microRNA 378a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 5:149,732,825...149,732,890
Ensembl chr 5:149,732,825...149,732,890 		JBrowse link
G MIR425 microRNA 425 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 3:49,020,148...49,020,234
Ensembl chr 3:49,020,148...49,020,234 		JBrowse link
G MIR451A microRNA 451a EXP CTD Direct Evidence: therapeutic CTD PMID:34460027 NCBI chr17:28,861,369...28,861,440
Ensembl chr17:28,861,369...28,861,440 		JBrowse link
G MIR490 microRNA 490 EXP CTD Direct Evidence: therapeutic CTD PMID:33482250 NCBI chr 7:136,903,167...136,903,294
Ensembl chr 7:136,903,167...136,903,294 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:22571259 RGD:7207277 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21468558 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:21871427 RGD:8694097 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO
EXP		 protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21468558 PMID:17121240 PMID:23318412 RGD:1642054, RGD:13204970 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MT2A metallothionein 2A ISO CTD Direct Evidence: therapeutic CTD PMID:18528683 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497 		JBrowse link
G MTOR mechanistic target of rapamycin kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28936961 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO mRNA, protein:increased expression:lung
mRNA:increased expression:lung		 RGD PMID:14680076 PMID:19154443 RGD:5131207, RGD:2314537 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23570914 PMID:19138753 RGD:6893396 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NGF nerve growth factor IEP protein:increased expression:sputum RGD PMID:12917229 RGD:4891121 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:17576803 RGD:5144067 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO mRNA:decreased expression:lung, fibroblast RGD PMID:19395679 RGD:5131637 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:20668217 RGD:4891482 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:lung RGD PMID:27982686 RGD:155663660 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA, protein:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:35654123 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:9736620 PMID:16199547 PMID:25741868 PMID:25848748 PMID:25893599 More... NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27704718 PMID:23260200 RGD:10413908 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PDGFA platelet derived growth factor subunit A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286697 PMID:21868503 PMID:22523431 RGD:6482756, RGD:6482831 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO RGD PMID:9458803 RGD:11080970 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PLAU plasminogen activator, urokinase treatment IDA
ISO		 human protein in rat model RGD PMID:7516275 PMID:23327706 PMID:12376355 RGD:7241204, RGD:7241544, RGD:7241206 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PSEN2 presenilin 2 ISO RGD PMID:10518543 RGD:1302521 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO
IAGP		 associated with sarcoidosis; DNA:SNP: :-765G>C (human) RGD PMID:17825173 PMID:21681100 RGD:1642597, RGD:5135504 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTX3 pentraxin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22210019 NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 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...63,696,253
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 SCGB1A1 secretoglobin family 1A member 1 IEP
ISO		 associated with scleroderma, systemic; protein:increased expression:serum:
mRNA,protein:decreased expression:lung		 RGD PMID:21239758 PMID:16369113 RGD:5144130, RGD:5144139 NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195 		JBrowse link
G SCGB3A2 secretoglobin family 3A member 2 ISO RGD PMID:21478551 RGD:5144129 NCBI chr 5:147,878,711...147,882,191
Ensembl chr 5:147,870,682...147,882,191 		JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:72955 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO
IDA		 protein:increased activity:plasma
Idiopathic Pulmonary Fibrosis		 RGD PMID:16224526 PMID:22659625 PMID:20061390 RGD:4144842, RGD:8547927, RGD:4143513 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SFTPA1 surfactant protein A1 disease_progression
susceptibility		 IEP
IAGP		 mRNA:increased expression:lung
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
protein:decreased expression:lung		 RGD PMID:19347046 PMID:13680361 PMID:10543276 RGD:4144870, RGD:4143409, RGD:4143437 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 PMID:19100526 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407 		JBrowse link
G SFTPB surfactant protein B susceptibility IAGP DNA:polymorphism (human) RGD PMID:13680361 RGD:4143409 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 susceptibility IAGP
ISO		 DNA:polymorphisms: :p.M71V, p.I73T (human)
ClinVar Annotator: match by term: Pulmonary fibrosis		 ClinVar
RGD		 PMID:15039969 PMID:15293602 PMID:15572558 PMID:15756222 PMID:17597647 More... RGD:4144060, RGD:4144124 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SKIL SKI like proto-oncogene EXP CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr 3:170,357,715...170,396,849
Ensembl chr 3:170,357,342...170,396,835 		JBrowse link
G SMAD4 SMAD family member 4 treatment ISO associated with Silicosis RGD PMID:21941776 PMID:22558986 RGD:12880047, RGD:12880048 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMAD7 SMAD family member 7 EXP CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965 		JBrowse link
G SNHG6 small nucleolar RNA host gene 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35785413 NCBI chr 8:66,921,690...66,925,541
Ensembl chr 8:66,895,990...66,926,525 		JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26699812 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD3 superoxide dismutase 3 EXP CTD Direct Evidence: therapeutic CTD PMID:15298984 NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO associated with Middle East respiratory syndrome;mRNA:increased expression:lung: RGD PMID:31838832 RGD:30309204 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
G SPP1 secreted phosphoprotein 1 EXP
ISO		 CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;mRNA:increased expression:lung:		 CTD
RGD		 PMID:25216247 PMID:31838832 RGD:30309204 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO RGD PMID:16806015 RGD:1600092 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30658076 PMID:22684844 RGD:6892915 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 EXP CTD Direct Evidence: therapeutic CTD PMID:26699812 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 treatment ISO RGD PMID:32506869 RGD:155663374 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TERC telomerase RNA component IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 More... NCBI chr 3:169,764,610...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 PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17264120 More... NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TFPI tissue factor pathway inhibitor treatment IDA RGD PMID:16338226 RGD:11062084 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760 		JBrowse link
G TGFA transforming growth factor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G TGFB1 transforming growth factor beta 1 treatment IMP
EXP
ISO		 CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;mRNA:increased expression:lung
protein:increased expression:lung
associated with Silicosis
associated with Asthma		 CTD
RGD		 PMID:15286001 PMID:16324872 PMID:16365456 PMID:17266442 PMID:19817698 More... RGD:4145279, RGD:30309204, RGD:14995444, RGD:4145112, RGD:2307220, RGD:4145133 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO RGD PMID:17077588 RGD:1601591 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21468558 PMID:23318412 RGD:13204970 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:18252230 PMID:21536674 PMID:28492532 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TLR2 toll like receptor 2 ISO associated with Pneumonia RGD PMID:20610040 PMID:19109203 RGD:4144177, RGD:4145324 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR4 toll like receptor 4 ISO associated with acute lung injury RGD PMID:20610040 PMID:20017955 RGD:4144177, RGD:4144120 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR9 toll like receptor 9 IEP mRNA:increased expression:lung (human) RGD PMID:18633634 RGD:5130206 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TNF tumor necrosis factor treatment ISO
EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter		 CTD
RGD		 PMID:11394717 PMID:16324872 PMID:17266442 PMID:25216247 PMID:26368622 More... RGD:4142851, RGD:2314537, RGD:4143258, RGD:4143417 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IEP mRNA:increased expression:lung RGD PMID:19893041 RGD:5131599 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G VWF von Willebrand factor ISO associated with Radiation Injuries;protein:increased expression:lung parenchyma RGD PMID:8811296 RGD:11079207 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
diffuse 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 ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B IAGP ClinVar Annotator: match by term: FAM111B-related condition | ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement OMIM
ClinVar		 PMID:17034542 PMID:24268661 PMID:25741868 PMID:26471370 PMID:26495788 More... NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		JBrowse link
idiopathic 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 ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IEP mRNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G APOA1 apolipoprotein A1 IEP protein: decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G ATP11A ATPase phospholipid transporting 11A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G BRD4 bromodomain containing 4 IDA RGD PMID:23759512 RGD:9586353 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CCL13 C-C motif chemokine ligand 13 ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr17:34,356,480...34,358,610
Ensembl chr17:34,356,480...34,358,610 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator IEP mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 IAGP
IEP		 DNA:polymorphism:promoter:-156G>C (human)
protein:increased expression:lung, macrophage, type II pneumocyte		 RGD PMID:20137269 PMID:11751193 RGD:5135241, RGD:5135250 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677 		JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 treatment IEP
ISO		 mRNA:increased expression:lung (human) RGD PMID:30119248 PMID:30119248 RGD:151347411, RGD:151347411 NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156 		JBrowse link
G DPP9 dipeptidyl peptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673 		JBrowse link
G DSP desmoplakin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia		 CTD
ClinVar		 PMID:23583980 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 IDA RGD PMID:24652950 RGD:9589169 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,698 		JBrowse link
G EP300 E1A binding protein p300 treatment IEP
ISO		 mRNA:increased expression:lung (human) RGD PMID:30119248 PMID:30119248 RGD:151347411, RGD:151347411 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G ESR1 estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G F3 coagulation factor III, tissue factor IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:10946084 RGD:11060143 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759 		JBrowse link
G FAM13A family with sequence similarity 13 member A EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia		 CTD
ClinVar		 PMID:23583980 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 ISO RGD PMID:15148335 RGD:11049166 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand ISO RGD PMID:15148335 RGD:11049166 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IEP protein:increased expression:lung (human) RGD PMID:29722558 RGD:155791445 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:178500 MouseDO NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317 		JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr 7:1,087,118...1,093,810
Ensembl chr 7:1,082,208...1,093,815 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human) RGD PMID:21373184 RGD:5147566 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 IEP protein:increased expression:serum RGD PMID:14555548 RGD:5144236 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IEP RGD PMID:21309737 RGD:5147438 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31268371 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC129999976 ATAC-STARR-seq lymphoblastoid silent region 18982 IAGP ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia ClinVar PMID:25741868 NCBI chr 8:22,164,628...22,165,667 JBrowse link
G MIR184 microRNA 184 IEP RNA:decreased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871 		JBrowse link
G MIR31 microRNA 31 IEP RNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185 		JBrowse link
G MMP1 matrix metallopeptidase 1 IEP protein:increased expression:lung,bronchoalveolar lavage fluid: RGD PMID:18447576 RGD:4890373 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP3 matrix metallopeptidase 3 IEP
EXP		 mRNA, protein:increased expression:lung
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:28434932 PMID:21871427 RGD:8694097 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:serum: RGD PMID:22963039 RGD:7244290 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 More... NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IEP mRNA:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
G PARN poly(A)-specific ribonuclease EXP CTD Direct Evidence: marker/mechanism CTD PMID:25848748 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 IEP mRNA,protein:increased expression, increased activity:fibroblast RGD PMID:23260200 RGD:10413908 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:18491991 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IAGP
IEP
IDA		 DNA:SNPs: :3050G>C, 8473C>T (human)
protein:decreased expression:lung:		 RGD PMID:21319594 PMID:14511257 PMID:20203246 RGD:5135280, RGD:5135507, RGD:5135461 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia		 CTD
ClinVar		 PMID:25607374 PMID:25741868 PMID:25848748 PMID:28492532 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: Fibrocystic pulmonary dysplasia ClinVar PMID:25607374 PMID:25741868 PMID:28492532 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 associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) 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 ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to ClinVar PMID:13680361 PMID:24033266 PMID:25741868 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SFTPA2 surfactant protein A2 IAGP
EXP		 ClinVar Annotator: match by term: SFTPA2-related condition
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: SFTPA2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12476938 PMID:12743564 PMID:16292672 PMID:17580966 PMID:19100526 More... NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407 		JBrowse link
G SFTPC surfactant protein C EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia		 CTD
ClinVar		 PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 More... NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SMAD2 SMAD family member 2 IEP mRNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD6 SMAD family member 6 IEP mRNA:decreased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26599507 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30481203 PMID:22684844 RGD:6892915 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STN1 STN1 subunit of CST complex EXP CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
G TERC telomerase RNA component EXP CTD Direct Evidence: marker/mechanism CTD PMID:17392301 PMID:17460043 PMID:23535734 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
EXP		 DNA:deletion, missense mutations, splice-site mutations:multiple
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17392301 More... RGD:11038666 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TFPI tissue factor pathway inhibitor severity IEP protein:increased expression:Bronchoalveolar lavage,epithelial cell: RGD PMID:10946084 RGD:11060143 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760 		JBrowse link
G THBD thrombomodulin severity IEP RGD PMID:20418386 RGD:5685036 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TNF tumor necrosis factor EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:178500		 CTD
MouseDO		 PMID:8473757 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TOLLIP toll interacting protein IAGP ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia ClinVar NCBI chr11:1,274,371...1,309,632
Ensembl chr11:1,274,371...1,309,654 		JBrowse link
G WNT5A Wnt family member 5A EXP CTD Direct Evidence: marker/mechanism CTD PMID:28726637 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1		 ClinVar PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 PMID:20301779 More... NCBI chr 5:1,294,628...1,298,988 JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1		 ClinVar
OMIM		 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16627250 More... NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110806306 telomerase RNA component (TERC) promoter IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2		 ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More... NCBI chr 3:169,764,689...169,765,858 JBrowse link
G TERC telomerase RNA component IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2		 ClinVar
OMIM		 PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More... 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
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G FNDC11 fibronectin type III domain containing 11 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,553,020...63,556,708
Ensembl chr20:63,547,891...63,556,695 		JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,587,605...63,627,101
Ensembl chr20:63,587,602...63,627,101 		JBrowse link
G HELZ2 helicase with zinc finger 2 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,754...63,527,076 		JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3		 ClinVar
OMIM		 PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 More... 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 and/or bone marrow failure, Telomere-related, 3
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23329068 PMID:23453664 More... NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684 		JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749 		JBrowse link
G STMN3 stathmin 3 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARN poly(A)-specific ribonuclease IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4		 OMIM
ClinVar		 PMID:9536098 PMID:9736620 PMID:16199547 PMID:16281054 PMID:17576681 More... NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZCCHC8 zinc finger CCHC-type containing 8 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
ClinVar Annotator: match by term: ZCCHC8-related condition
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | ClinVar Annotator: match by term: ZCCHC8-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:31488579 NCBI chr12:122,471,600...122,500,932
Ensembl chr12:122,471,600...122,500,932 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPA1 replication protein A1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
ClinVar Annotator: match by term: RPA1-related short telomere syndrome		 OMIM
ClinVar		 PMID:25741868 PMID:34767620 NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
ClinVar Annotator: match by term: NAF1-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:27510903 PMID:28492532 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 ClinVar
OMIM		 PMID:35420632 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOP10 NOP10 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 OMIM
ClinVar		 PMID:32139460 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    Pathological Conditions, Signs and Symptoms 53753
      Pathologic Processes 28413
        Fibrosis 2091
          pulmonary fibrosis 328
            Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1
            Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
            Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related + 21
            diffuse pulmonary fibrosis 1
            idiopathic pulmonary fibrosis 130
            localized pulmonary fibrosis 0
            postinflammatory pulmonary fibrosis 0
Path 2
Term Annotations click to browse term
  disease 97458
    disease of anatomical entity 91107
      respiratory system disease 16807
        lower respiratory tract disease 5479
          lung disease 5432
            interstitial lung disease 732
              pulmonary fibrosis 328
                Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1
                Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
                Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related + 21
                diffuse pulmonary fibrosis 1
                idiopathic pulmonary fibrosis 130
                localized pulmonary fibrosis 0
                postinflammatory pulmonary fibrosis 0
paths to the root