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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. (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.



show annotations for term's descendants           Sort by:
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
JBrowse link
G Ace angiotensin I converting enzyme IMP
IEP
ISO
associated with Hypertension
associated with Lung Injury;protein:decreased expression:lung
associated with Radiation Pneumonitis
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:33007385 PMID:17506718 PMID:20581171 PMID:20651228 PMID:17506716 RGD:4140923, RGD:4140483, RGD:4140478, RGD:4140925 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO associated with Lung Injury;protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:27550926 PMID:33007385 PMID:20581171 RGD:4140483 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639579 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: therapeutic CTD PMID:25945502 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO
IEP
mRNA:decreased expression:lung (human)
mRNA, protein:decreased expression:lung
RGD PMID:22669512 PMID:24226635 RGD:7245533, RGD:8695997 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen treatment IMP
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:28960804 PMID:31181250 PMID:24168260 RGD:11039408 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:18500976 RGD:5147454 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:18500976 RGD:5147454 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:altered localization:alveolar macrophage, nuclear membrane RGD PMID:8621765 RGD:4890430 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Anxa1 annexin A1 IEP protein:decreased expression:lung RGD PMID:9269316 RGD:2306948 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26817844 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 IEP protein:increased expression:lung RGD PMID:24127863 RGD:14390076 NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
JBrowse link
G Bad BCL2-associated agonist of cell death IEP RGD PMID:18198484 RGD:2292680 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:20451601 RGD:5129229 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:sputum RGD PMID:12917229 RGD:4891121 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:17975199 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
JBrowse link
G Brd4 bromodomain containing 4 treatment ISO RGD PMID:23759512 RGD:9586353 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17365031 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Calr calreticulin ISO protein:increased expression:lung RGD PMID:18563736 RGD:2326172 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Cat catalase ISO mRNA, protein:decreased expression:lung
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:19684199 PMID:21190578 RGD:5130199 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:36053221 PMID:18759267 RGD:8661773 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16314464 PMID:17620002 PMID:17620002 PMID:16314464 RGD:4145458, RGD:4145395 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 IEP
ISO
mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion
RGD PMID:15993846 PMID:19715610 RGD:2306304, RGD:4145488 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:17717200 RGD:5130910 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO
IEP
mRNA, protein:increased expression:lung, eosinophil (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16324872 PMID:17720292 PMID:26163174 PMID:20833968 PMID:7525714 RGD:4145112, RGD:8549730 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO mRNA:increased expression:lung RGD PMID:17717200 RGD:5130910 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 IEP
ISO
mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion
RGD PMID:15993846 PMID:19715610 RGD:2306304, RGD:4145488 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324872 PMID:17720292 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17720292 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17620002 PMID:20833968 RGD:4145112 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccn2 cellular communication network factor 2 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844 PMID:19154443 RGD:2314537 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14609568 PMID:15743780 RGD:4145065 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO associated with Lung Injury
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16314464 PMID:16314464 RGD:4145395 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 IEP mRNA:increased expression:lung RGD PMID:15993846 RGD:2306304 NCBI chr 8:114,176,256...114,182,155
Ensembl chr 8:114,176,974...114,178,056
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:lung, lymphocyte (human)
mRNA:increased expression:lung (mouse)
RGD PMID:15802346 PMID:19762220 RGD:4892101, RGD:4145622 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr8 C-C motif chemokine receptor 8 IEP mRNA:increased expression:lung RGD PMID:15993846 RGD:2306304 NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629
JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:20395561 RGD:4892281 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd36 CD36 molecule severity IMP
ISO
associated with Silicosis RGD PMID:19439069 PMID:20056742 RGD:2307220, RGD:6893557 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:lung, dendritic cell (mouse) RGD PMID:20395561 RGD:4892281 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cdh1 cadherin 1 IEP
ISO
RGD PMID:20495078 PMID:16924102 RGD:5132892, RGD:5132890 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: therapeutic CTD PMID:29078374 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17177178 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Cfd complement factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22832039 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum, lung (human) RGD PMID:20888745 RGD:4892653 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO RGD PMID:18480105 RGD:5133440 NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
JBrowse link
G Cma1 chymase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15297733 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP
ISO
associated with Middle East respiratory syndrome; RGD PMID:7511187 PMID:17579094 PMID:31838832 RGD:7257543, RGD:11041177, RGD:30309204 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP RGD PMID:7511187 RGD:7257543 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Col3a1 collagen type III alpha 1 chain disease_progression ISO CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;
CTD
RGD
PMID:26817844 PMID:31838832 RGD:30309204 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Csf2 colony stimulating factor 2 IEP
ISO
mRNA:increased expression:lung:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17894541 PMID:9881949 RGD:10449530 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17894541 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:18836137 RGD:5134989 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO associated with Lung Injury RGD PMID:15254596 RGD:5135446 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO
IEP
associated with Pneumonia
mRNA:increased expression:lung
RGD PMID:14970333 PMID:20959046 RGD:4847792, RGD:4781441 NCBI chr  X:71,661,415...71,690,158
Ensembl chr  X:71,663,821...71,690,121
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15328359 PMID:20497024 PMID:15328359 RGD:4781445, RGD:5143997 NCBI chr15:48,190,251...48,229,906
Ensembl chr15:48,189,073...48,304,136
JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
JBrowse link
G Defb5 defensin beta 5 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:70,613,200...70,615,360
Ensembl chr16:70,613,146...70,615,467
JBrowse link
G Dnm1l dynamin 1-like IEP
ISO
mRNA,protein:increased expression:lung,mitochondrion RGD PMID:25284615 PMID:25284615 RGD:35673291, RGD:35673291 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Edn1 endothelin 1 IEP
ISO
protein:increased expression:lung, airway epithelium, leukocyte (rat)
associated with Scleroderma, Systemic; protein:increased expression:lung (human)
Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17235729 PMID:9279246 PMID:9284832 PMID:8099638 RGD:4144892, RGD:4144866, RGD:4144889 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17266442 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Egfr epidermal growth factor receptor IEP
ISO
mRNA:increased expression:lung (rat) RGD PMID:7524566 PMID:8879184 PMID:21177177 RGD:5131873, RGD:5131638, RGD:5131634 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egr1 early growth response 1 disease_progression ISO mRNA:increased expression:lung (human)
mRNA:increased expression:lung (mouse)
RGD PMID:19347046 PMID:20539010 PMID:19679873 RGD:4144870, RGD:5131877, RGD:5131644 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:19995276 RGD:10450562 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10761639 PMID:26817844 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G F2 coagulation factor II ISO RGD PMID:21312187 RGD:5147767 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F5 coagulation factor V severity ISO RGD PMID:11307811 RGD:11564339 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Fam13a family with sequence similarity 13, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8952537 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15677771 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26817844 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30658076 NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:17975199 NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO associated with Scleroderma, Systemic RGD PMID:17044913 RGD:4142516 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Habp2 hyaluronan binding protein 2 IEP RGD PMID:20818495 RGD:11353855 NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
JBrowse link
G Hgf hepatocyte growth factor ISO associated with myositis;protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16324872 PMID:8952317 RGD:8548628 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27616297 NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814490 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 IEP protein:decreased expression:lung (rat) RGD PMID:24670792 RGD:10445835 NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
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 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:11746186 RGD:12910545 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:lung (rat) RGD PMID:19254480 RGD:4145516 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15286697 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:15681824 RGD:1626120 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 ISO RGD PMID:15681824 RGD:1626120 NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156
JBrowse link
G Il12b interleukin 12B ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12193738 PMID:18598692 PMID:20176803 RGD:4889581, RGD:4888529 NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il13 interleukin 13 treatment ISO
IEP
idiopathic pulmonary fibrosis
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15322207 PMID:19654941 PMID:19154443 PMID:20176803 RGD:4145627, RGD:2314537, RGD:4888529 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il15 interleukin 15 ISO RGD PMID:21309737 RGD:5147438 NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Il17a interleukin 17A ISO
IEP
protein:increased expression:lung, bronchioalveolar lavage fluid (rat) RGD PMID:20176803 PMID:18338242 PMID:24721403 RGD:4888529, RGD:4889110, RGD:9179762 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:lung
idiopathic pulmonary fibrosis; protein:increased expression:lung, serum
RGD PMID:18598692 PMID:15308504 RGD:4889581, RGD:4889841 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO protein:increased expression:lung RGD PMID:15308504 RGD:4889841 NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
JBrowse link
G Il1a interleukin 1 alpha ISO
IEP
idiopathic pulmonary fibrosis;DNA:polymorphism:promoter:
mRNA, protein:increased expression:alveolar macrophage
RGD PMID:17309781 PMID:9100454 RGD:4142803, RGD:4142838 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
IDA
protein:increased expression:serum
protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17266442 PMID:23640035 PMID:19945540 PMID:20522787 PMID:23132788 RGD:4142813, RGD:4142535, RGD:7193137 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist disease_progression
susceptibility
ISO DNA:polymorphism (human)
CTD Direct Evidence: therapeutic
protein:increased expression:lung
CTD
RGD
PMID:18403674 PMID:17056243 PMID:7767546 PMID:10934117 RGD:4142874, RGD:4143194, RGD:4143177 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il4 interleukin 4 treatment ISO
IEP
associated with Silicosis;protein:increased expression:respiratory system fluid/secretion
associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12574379 PMID:15322207 PMID:20490462 PMID:20861649 PMID:24269241 RGD:5128555, RGD:5128548, RGD:10402793 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il5 interleukin 5 ISO mRNA:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17620002 PMID:14975941 PMID:17986108 RGD:4890954, RGD:4890942 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17266442 PMID:25216247 PMID:20846163 RGD:4143241 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il9 interleukin 9 ISO associated with Silicosis RGD PMID:11306428 RGD:5128702 NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
JBrowse link
G Jag1 jagged canonical Notch ligand 1 IEP protein:increased expression:lung RGD PMID:27982686 RGD:155663660 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28444932 NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
JBrowse link
G Lepr leptin receptor ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21317313 RGD:5128773 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lias lipoic acid synthetase ISO CTD Direct Evidence: therapeutic CTD PMID:32017981 NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
JBrowse link
G Mbl2 mannose binding lectin 2 ISO associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:18637104 RGD:4889479 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21435439 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mfn2 mitofusin 2 treatment IEP RGD PMID:24912636 RGD:13204824 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mir101a microRNA 101a ISO CTD Direct Evidence: therapeutic CTD PMID:28726637 NCBI chr 5:115,966,332...115,966,406
Ensembl chr 5:115,966,328...115,966,410
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
JBrowse link
G Mir122 microRNA 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mir125a microRNA 125a ISO CTD Direct Evidence: therapeutic CTD PMID:30658076 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:25926378 PMID:32462952 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Mir193a microRNA 193a ISO CTD Direct Evidence: therapeutic CTD PMID:30744607 NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
JBrowse link
G Mir200c microRNA 200c ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:25926378 PMID:29113749 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mir21 microRNA 21 treatment IEP RGD PMID:29084974 RGD:41404715 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir223 microRNA 223 disease_progression IEP RGD PMID:32329871 RGD:25824948 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mir26b microRNA 26b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
JBrowse link
G Mir30a microRNA 30a ISO
IEP
CTD Direct Evidence: marker/mechanism
RNA:decreased expression:lung
CTD
RGD
PMID:25926378 PMID:25284615 RGD:35673291 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mir326 microRNA 326 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
JBrowse link
G Mir345 microRNA 345 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 6:127,754,027...127,754,122
Ensembl chr 6:127,754,027...127,754,122
JBrowse link
G Mir425 microRNA 425 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 8:109,264,555...109,264,637
Ensembl chr 8:109,264,555...109,264,637
JBrowse link
G Mir451a microRNA 451a ISO CTD Direct Evidence: therapeutic CTD PMID:34460027 NCBI chr10:62,961,520...62,961,591
Ensembl chr10:62,961,520...62,961,591
JBrowse link
G Mir490 microRNA 490 ISO CTD Direct Evidence: therapeutic CTD PMID:33482250 NCBI chr 4:65,047,548...65,047,631
Ensembl chr 4:65,047,548...65,047,631
JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:22571259 RGD:7207277 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21468558 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:21871427 RGD:8694097 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO
protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21468558 PMID:17121240 PMID:23318412 RGD:1642054, RGD:13204970 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: therapeutic CTD PMID:18528683 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28936961 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming IEP
ISO
mRNA, protein:increased expression:lung
mRNA:increased expression:lung
RGD PMID:14680076 PMID:19154443 RGD:5131207, RGD:2314537 NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23570914 PMID:19138753 RGD:6893396 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:sputum RGD PMID:12917229 RGD:4891121 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ngfr nerve growth factor receptor ISO RGD PMID:17576803 RGD:5144067 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nkx2-5 NK2 homeobox 5 IEP mRNA:decreased expression:lung, fibroblast RGD PMID:19395679 RGD:5131637 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:20668217 RGD:4891482 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Notch1 notch receptor 1 IEP protein:increased expression:lung RGD PMID:27982686 RGD:155663660 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO mRNA, protein:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654123 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:25741868 PMID:28414520 PMID:28492532 NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27704718 PMID:23260200 RGD:10413908 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15286697 PMID:21868503 PMID:22523431 RGD:6482756, RGD:6482831 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha IEP RGD PMID:9458803 RGD:11080970 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Plau plasminogen activator, urokinase treatment ISO
IDA
human protein in rat model RGD PMID:7516275 PMID:12376355 PMID:23327706 RGD:7241204, RGD:7241206, RGD:7241544 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Psen2 presenilin 2 ISO RGD PMID:10518543 RGD:1302521 NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP
ISO
associated with sarcoidosis; DNA:SNP: :-765G>C (human) RGD PMID:17825173 PMID:21681100 RGD:1642597, RGD:5135504 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptx3 pentraxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22210019 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO
IEP
associated with scleroderma, systemic; protein:increased expression:serum:
mRNA,protein:decreased expression:lung
RGD PMID:21239758 PMID:16369113 RGD:5144130, RGD:5144139 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
JBrowse link
G Scgb3a2 secretoglobin, family 3A, member 2 ISO RGD PMID:21478551 RGD:5144129 NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:72955 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Serpine1 serpin family E member 1 treatment ISO
IEP
IMP
Idiopathic Pulmonary Fibrosis
protein:increased activity:plasma
RGD PMID:20061390 PMID:16224526 PMID:22659625 RGD:4143513, RGD:4144842, RGD:8547927 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sftpa1 surfactant protein A1 disease_progression
susceptibility
ISO mRNA:increased expression:lung
protein:decreased expression:lung
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
RGD PMID:19347046 PMID:10543276 PMID:13680361 RGD:4144870, RGD:4143437, RGD:4143409 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpb surfactant protein B susceptibility ISO DNA:polymorphism (human) RGD PMID:13680361 RGD:4143409 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Sftpc surfactant protein C susceptibility ISO DNA:polymorphisms: :p.M71V, p.I73T (human) RGD PMID:20656946 PMID:16251411 RGD:4144060, RGD:4144124 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Skil SKI-like proto-oncogene ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
JBrowse link
G Smad4 SMAD family member 4 treatment IEP
IDA
associated with Silicosis RGD PMID:21941776 PMID:22558986 RGD:12880047, RGD:12880048 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26699812 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15298984 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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 chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Spp1 secreted phosphoprotein 1 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 chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Stat1 signal transducer and activator of transcription 1 IDA RGD PMID:16806015 RGD:1600092 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30658076 PMID:22684844 RGD:6892915 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:26699812 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 treatment ISO RGD PMID:32506869 RGD:155663374 NCBI chr 1:2,375,026...2,424,759
Ensembl chr 1:2,375,490...2,424,756
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:16338226 RGD:11062084 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO
IMP
IEP
associated with Asthma
associated with Silicosis
protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;mRNA:increased expression:lung
CTD
RGD
PMID:15286001 PMID:16324872 PMID:16365456 PMID:17266442 PMID:19817698 More... RGD:4145279, RGD:4145133, RGD:2307220, RGD:4145112, RGD:14995444, RGD:30309204 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP RGD PMID:17077588 RGD:1601591 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21468558 PMID:23318412 RGD:13204970 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Pneumonia RGD PMID:19109203 PMID:20610040 RGD:4145324, RGD:4144177 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression:lung (human) RGD PMID:18633634 RGD:5130206 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor treatment ISO DNA:polymorphism:promoter
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11394717 PMID:16324872 PMID:17266442 PMID:25216247 PMID:26368622 More... RGD:4142851, RGD:4143417, RGD:2314537, RGD:4143258 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO mRNA:increased expression:lung RGD PMID:19893041 RGD:5131599 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
G Vwf von Willebrand factor IEP associated with Radiation Injuries;protein:increased expression:lung parenchyma RGD PMID:8811296 RGD:11079207 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 ISO ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
JBrowse link
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO mRNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Atp11a ATPase phospholipid transporting 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
JBrowse link
G Brd4 bromodomain containing 4 ISO RGD PMID:23759512 RGD:9586353 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,329,974...29,357,285
Ensembl chr 1:29,329,985...29,357,016
JBrowse link
G Ccl12 C-C motif chemokine ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO DNA:polymorphism:promoter:-156G>C (human)
protein:increased expression:lung, macrophage, type II pneumocyte
RGD PMID:20137269 PMID:11751193 RGD:5135241, RGD:5135250 NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 treatment ISO
IMP
mRNA:increased expression:lung (human) RGD PMID:30119248 PMID:30119248 RGD:151347411, RGD:151347411 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
JBrowse link
G Dpp9 dipeptidyl peptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541
JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2
CTD
ClinVar
PMID:23583980 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO RGD PMID:24652950 RGD:9589169 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Ep300 E1A binding protein p300 treatment ISO
IMP
mRNA:increased expression:lung (human) RGD PMID:30119248 PMID:30119248 RGD:151347411, RGD:151347411 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10946084 RGD:11060143 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fam13a family with sequence similarity 13, member A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2
CTD
ClinVar
PMID:23583980 NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:15148335 RGD:11049166 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO RGD PMID:15148335 RGD:11049166 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO protein:increased expression:lung (human) RGD PMID:29722558 RGD:155791445 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:178500 MouseDO NCBI chr 6:24,297,898...24,319,157
Ensembl chr 6:24,300,956...24,320,034
JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO protein:increased expression:serum RGD PMID:14555548 RGD:5144236 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:21309737 RGD:5147438 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
JBrowse link
G Mir184 microRNA 184 ISO RNA:decreased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
JBrowse link
G Mir31 microRNA 31 ISO RNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 5:103,599,038...103,599,143 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:lung,bronchoalveolar lavage fluid:
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
RGD
PMID:18447576 RGD:4890373 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO mRNA, protein:increased expression:lung
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:28434932 PMID:21871427 RGD:8694097 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum: RGD PMID:22963039 RGD:7244290 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 More... NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:25741868 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Parn poly(A)-specific ribonuclease ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848748 NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO mRNA,protein:increased expression, increased activity:fibroblast RGD PMID:23260200 RGD:10413908 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:18491991 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO 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 chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21373184 RGD:5147566 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2
CTD
ClinVar
PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 PMID:24033266 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Rtkn2 rhotekin 2 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr20:20,525,256...20,609,951
Ensembl chr20:20,525,256...20,609,951
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase exacerbates ISO associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) RGD PMID:33533494 RGD:150429642 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 | ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to ClinVar PMID:13680361 PMID:24033266 PMID:25741868 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD
ClinVar
PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 More... NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302
JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
JBrowse link
G Smad2 SMAD family member 2 ISO mRNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Smad6 SMAD family member 6 ISO mRNA:decreased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26599507 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30481203 PMID:22684844 RGD:6892915 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Interstitial lung disease 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17392301 PMID:17460043 PMID:23535734 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO DNA:deletion, missense mutations, splice-site mutations:multiple
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar Annotator: match by term: Familial idiopathic pulmonary fibrosis | 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: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:2602487 PMID:9536098 PMID:12629597 PMID:15814878 PMID:15885610 More... RGD:11038666 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tfpi tissue factor pathway inhibitor severity ISO protein:increased expression:Bronchoalveolar lavage,epithelial cell: RGD PMID:10946084 RGD:11060143 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thbd thrombomodulin severity ISO RGD PMID:20418386 RGD:5685036 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8473757 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134
JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28726637 NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234
JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,296,216...29,327,227
Ensembl chr 1:29,296,334...29,326,898
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 OMIM
ClinVar
PMID:2602487 PMID:15814878 PMID:15885610 PMID:16332973 PMID:16627250 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 OMIM
ClinVar
PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More... NCBI chr 2:112,815,654...112,816,041 JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ISO 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 OMIM
ClinVar
PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 PMID:24033266 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, 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 ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 OMIM
ClinVar
PMID:9736620 PMID:16281054 PMID:25741868 PMID:25848748 PMID:26482878 More... NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, 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 ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31488579 NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpa1 replication protein A1 ISO 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 chr10:60,148,869...60,199,999
Ensembl chr10:60,148,793...60,199,949
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Pathological Conditions, Signs and Symptoms 11380
      Pathologic Processes 7837
        Fibrosis 1515
          pulmonary fibrosis 241
            Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
            Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
            Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related + 6
            diffuse pulmonary fibrosis 1
            idiopathic pulmonary fibrosis 75
            localized pulmonary fibrosis 0
            postinflammatory pulmonary fibrosis 0
Path 2
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  disease 18246
    disease of anatomical entity 17610
      respiratory system disease 3432
        lower respiratory tract disease 2267
          lung disease 2230
            interstitial lung disease 463
              pulmonary fibrosis 241
                Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
                Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
                Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related + 6
                diffuse pulmonary fibrosis 1
                idiopathic pulmonary fibrosis 75
                localized pulmonary fibrosis 0
                postinflammatory pulmonary fibrosis 0
paths to the root