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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:A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death.
Synonyms:exact_synonym: Fibrosing Alveolitides;   Fibrosing Alveolitis;   Pulmonary Fibroses;   fibrosis of lung
 primary_id: MESH:D011658
 xref: 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 chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Ace angiotensin I converting enzyme IMP
ISO
IEP
associated with Hypertension
associated with Radiation Pneumonitis
associated with Lung Injury
associated with Lung Injury;protein:decreased expression:lung
RGD PMID:17506718, PMID:17506716, PMID:20651228, PMID:20581171 RGD:4140923, RGD:4140925, RGD:4140478, RGD:4140483 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO associated with Lung Injury;protein:decreased expression:lung
CTD Direct Evidence: therapeutic
CTD PMID:27550926, PMID:20581171 RGD:4140483 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639579 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: therapeutic CTD PMID:25945502 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen treatment IMP
ISO
CTD Direct Evidence: therapeutic CTD PMID:28960804 PMID:31181250, PMID:24168260 RGD:11039408 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:18500976 RGD:5147454 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:18500976 RGD:5147454 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:altered localization:alveolar macrophage, nuclear membrane RGD PMID:8621765 RGD:4890430 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Anxa1 annexin A1 IEP protein:decreased expression:lung RGD PMID:9269316 RGD:2306948 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26817844 NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 IEP protein:increased expression:lung RGD PMID:24127863 RGD:14390076 NCBI chr 8:27,777,024...27,804,368
Ensembl chr 8:27,777,179...27,804,515
JBrowse link
G Bad BCL2-associated agonist of cell death IEP RGD PMID:18198484 RGD:2292680 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:20451601 RGD:5129229 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:sputum RGD PMID:12917229 RGD:4891121 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:17975199 NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
JBrowse link
G Brd4 bromodomain containing 4 treatment ISO RGD PMID:23759512 RGD:9586353 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17365031 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Calr calreticulin ISO protein:increased expression:lung RGD PMID:18563736 RGD:2326172 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Cat catalase ISO mRNA, protein:decreased expression:lung
CTD Direct Evidence: therapeutic
CTD PMID:19684199, PMID:21190578 RGD:5130199 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:18759267 RGD:8661773 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314464 PMID:17620002, PMID:17620002, PMID:16314464 RGD:4145458, RGD:4145395 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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 chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:17717200 RGD:5130910 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung, eosinophil (rat)
CTD PMID:16324872 PMID:17720292 PMID:26163174, PMID:20833968, PMID:7525714 RGD:4145112, RGD:8549730 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO mRNA:increased expression:lung RGD PMID:17717200 RGD:5130910 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
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 chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324872 PMID:17720292 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17720292 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:17620002, PMID:20833968 RGD:4145112 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844, PMID:19154443 RGD:2314537 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14609568, PMID:15743780 RGD:4145065
G Ccr3 C-C motif chemokine receptor 3 ISO associated with Lung Injury
CTD Direct Evidence: marker/mechanism
CTD PMID:16314464, PMID:16314464 RGD:4145395 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 IEP mRNA:increased expression:lung RGD PMID:15993846 RGD:2306304 NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Ccr8 C-C motif chemokine receptor 8 IEP mRNA:increased expression:lung RGD PMID:15993846 RGD:2306304 NCBI chr 8:128,779,552...128,782,531
Ensembl chr 8:128,781,395...128,782,456
JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:20395561 RGD:4892281 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd36 CD36 molecule severity IMP
ISO
associated with Silicosis RGD PMID:19439069, PMID:20056742 RGD:2307220, RGD:6893557 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:lung, dendritic cell (mouse) RGD PMID:20395561 RGD:4892281 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cdh1 cadherin 1 IEP
ISO
RGD PMID:20495078, PMID:16924102 RGD:5132892, RGD:5132890 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: therapeutic CTD PMID:29078374 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17177178 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Cfd complement factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22832039 NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum, lung (human) RGD PMID:20888745 RGD:4892653 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO RGD PMID:18480105 RGD:5133440 NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Cma1 chymase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15297733 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP
ISO
associated with Middle East respiratory syndrome; RGD PMID:7511187, PMID:31838832, PMID:17579094 RGD:7257543, RGD:30309204, RGD:11041177 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP RGD PMID:7511187 RGD:7257543 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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 PMID:26817844, PMID:31838832 RGD:30309204 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Csf2 colony stimulating factor 2 IEP
ISO
mRNA:increased expression:lung:
CTD Direct Evidence: marker/mechanism
CTD PMID:17894541, PMID:9881949 RGD:10449530 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17894541 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:18836137 RGD:5134989 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO associated with Lung Injury RGD PMID:15254596 RGD:5135446 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
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:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15328359, PMID:20497024, PMID:15328359 RGD:4781445, RGD:5143997 NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
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 chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Edn1 endothelin 1 IEP
ISO
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 PMID:17235729, PMID:9279246, PMID:8099638, PMID:9284832 RGD:4144892, RGD:4144889, RGD:4144866 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17266442 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egfr epidermal growth factor receptor IEP
ISO
mRNA:increased expression:lung (rat) RGD PMID:7524566, PMID:21177177, PMID:8879184 RGD:5131873, RGD:5131634, RGD:5131638 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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:19679873, PMID:20539010 RGD:4144870, RGD:5131644, RGD:5131877 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:19995276 RGD:10450562 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10761639 PMID:26817844 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G F2 coagulation factor II ISO RGD PMID:21312187 RGD:5147767 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F5 coagulation factor V severity ISO RGD PMID:11307811 RGD:11564339 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fam13a family with sequence similarity 13, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 4:89,183,180...89,281,282
Ensembl chr 4:89,183,768...89,281,222
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8952537 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15677771 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26817844 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30658076 NCBI chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:17975199 NCBI chr 3:105,203,309...105,214,989
Ensembl chr 3:105,203,309...105,214,989
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO associated with Scleroderma, Systemic RGD PMID:17044913 RGD:4142516 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Habp2 hyaluronan binding protein 2 IEP RGD PMID:20818495 RGD:11353855 NCBI chr 1:277,068,715...277,104,567
Ensembl chr 1:277,068,761...277,104,566
JBrowse link
G Hgf hepatocyte growth factor ISO associated with myositis;protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD PMID:16324872, PMID:8952317 RGD:8548628 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27616297 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814490 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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 9:17,817,791...17,823,163
Ensembl chr 9:17,817,721...17,823,243
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 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:11746186 RGD:12910545 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:lung (rat) RGD PMID:19254480 RGD:4145516 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15286697 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:15681824 RGD:1626120 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 ISO RGD PMID:15681824 RGD:1626120 NCBI chr 9:80,154,230...80,166,813
Ensembl chr 9:80,150,211...80,167,033
JBrowse link
G Il12b interleukin 12B ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:12193738, PMID:18598692, PMID:20176803 RGD:4889581, RGD:4888529 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il13 interleukin 13 treatment ISO
IEP
idiopathic pulmonary fibrosis
CTD Direct Evidence: marker/mechanism
CTD PMID:15322207, PMID:19654941, PMID:20176803, PMID:19154443 RGD:4145627, RGD:4888529, RGD:2314537 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il15 interleukin 15 ISO RGD PMID:21309737 RGD:5147438 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il17a interleukin 17A ISO
IEP
protein:increased expression:lung, bronchioalveolar lavage fluid (rat) RGD PMID:20176803, PMID:24721403, PMID:18338242 RGD:4888529, RGD:9179762, RGD:4889110 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO protein:increased expression:lung RGD PMID:15308504 RGD:4889841 NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
IDA
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
CTD PMID:17266442 PMID:23640035, PMID:19945540, PMID:23132788, PMID:20522787 RGD:4142813, RGD:7193137, RGD:4142535 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist disease_progression
susceptibility
ISO DNA:polymorphism (human)
CTD Direct Evidence: therapeutic
protein:increased expression:lung
CTD PMID:18403674, PMID:17056243, PMID:7767546, PMID:10934117 RGD:4142874, RGD:4143194, RGD:4143177 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il4 interleukin 4 treatment ISO
IEP
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 PMID:12574379 PMID:15322207, PMID:20490462, PMID:24269241, PMID:20861649 RGD:5128555, RGD:10402793, RGD:5128548 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung
CTD PMID:17620002, PMID:14975941, PMID:17986108 RGD:4890954, RGD:4890942 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17266442 PMID:25216247, PMID:20846163 RGD:4143241 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il9 interleukin 9 ISO associated with Silicosis RGD PMID:11306428 RGD:5128702 NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28444932 NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Lepr leptin receptor ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21317313 RGD:5128773 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lias lipoic acid synthetase ISO CTD Direct Evidence: therapeutic CTD PMID:32017981 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21435439 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mfn2 mitofusin 2 treatment IEP RGD PMID:24912636 RGD:13204824 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mir101a microRNA 101a ISO CTD Direct Evidence: therapeutic CTD PMID:28726637 NCBI chr 5:120,168,437...120,168,511
Ensembl chr 5:120,168,433...120,168,515
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr10:84,165,950...84,166,059
Ensembl chr10:84,165,950...84,166,059
JBrowse link
G Mir122 microRNA 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr18:60,755,285...60,755,369 JBrowse link
G Mir125a microRNA 125a ISO CTD Direct Evidence: therapeutic CTD PMID:30658076 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:25926378 PMID:32462952 NCBI chr19:39,608,951...39,609,049
Ensembl chr19:39,608,951...39,609,049
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Mir200c microRNA 200c ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:25926378 PMID:29113749 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Mir223 microRNA 223 disease_progression IEP RGD PMID:32329871 RGD:25824948 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mir26b microRNA 26b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 9:81,675,275...81,675,359
Ensembl chr 9:81,675,275...81,675,359
JBrowse link
G Mir30a microRNA 30a ISO
IEP
CTD Direct Evidence: marker/mechanism
RNA:decreased expression:lung
CTD PMID:25926378, PMID:25284615 RGD:35673291 NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
JBrowse link
G Mir326 microRNA 326 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 1:164,518,401...164,518,495
Ensembl chr 1:164,518,401...164,518,495
JBrowse link
G Mir345 microRNA 345 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 6:132,748,968...132,749,063
Ensembl chr 6:132,748,968...132,749,063
JBrowse link
G Mir425 microRNA 425 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 8:117,354,821...117,354,903
Ensembl chr 8:117,354,821...117,354,903
JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:22571259 RGD:7207277 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21468558 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:21871427 RGD:8694097 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO
protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:21468558, PMID:17121240, PMID:23318412 RGD:1642054, RGD:13204970 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: therapeutic CTD PMID:18528683 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28936961 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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 1:214,725,482...214,756,653 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:23570914, PMID:19138753 RGD:6893396 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:sputum RGD PMID:12917229 RGD:4891121 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ngfr nerve growth factor receptor ISO RGD PMID:17576803 RGD:5144067 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nkx2-5 NK2 homeobox 5 IEP mRNA:decreased expression:lung, fibroblast RGD PMID:19395679 RGD:5131637 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:20668217 RGD:4891482 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO mRNA, protein:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:25741868 PMID:26482878 PMID:28414520 PMID:28492532 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27704718, PMID:23260200 RGD:10413908 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15286697, PMID:21868503, PMID:22523431 RGD:6482756, RGD:6482831 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha IEP RGD PMID:9458803 RGD:11080970 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Plau plasminogen activator, urokinase treatment ISO
IDA
human protein in rat model RGD PMID:7516275, PMID:23327706, PMID:12376355 RGD:7241204, RGD:7241544, RGD:7241206 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Psen2 presenilin 2 ISO RGD PMID:10518543 RGD:1302521 NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptx3 pentraxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22210019 NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
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 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Scgb3a2 secretoglobin, family 3A, member 2 ISO RGD PMID:21478551 RGD:5144129 NCBI chr18:38,292,822...38,295,744
Ensembl chr18:38,292,701...38,295,831
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:72955 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Serpine1 serpin family E member 1 treatment ISO
IMP
IEP
Idiopathic Pulmonary Fibrosis
protein:increased activity:plasma
RGD PMID:20061390, PMID:22659625, PMID:16224526 RGD:4143513, RGD:8547927, RGD:4144842 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpb surfactant protein B susceptibility ISO DNA:polymorphism (human) RGD PMID:13680361 RGD:4143409 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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 chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Skil SKI-like proto-oncogene ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr 2:115,862,932...115,891,304
Ensembl chr 2:115,866,701...115,891,097
JBrowse link
G Smad4 SMAD family member 4 treatment IEP
IDA
associated with Silicosis RGD PMID:21941776, PMID:22558986 RGD:12880047, RGD:12880048 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26699812 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15298984 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
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 chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;mRNA:increased expression:lung:
CTD PMID:25216247, PMID:31838832 RGD:30309204 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Stat1 signal transducer and activator of transcription 1 IDA RGD PMID:16806015 RGD:1600092 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30658076, PMID:22684844 RGD:6892915 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:26699812 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:16338226 RGD:11062084 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO
IEP
IMP
associated with Middle East respiratory syndrome;mRNA:increased expression:lung
CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
associated with Silicosis
associated with Asthma
CTD PMID:15286001 PMID:16324872 PMID:16365456 PMID:17266442 PMID:19817698 PMID:24762191 PMID:26817844, PMID:18403781, PMID:31838832, PMID:26822530, PMID:20833968, PMID:19439069, PMID:19542246 RGD:4145279, RGD:30309204, RGD:14995444, RGD:4145112, RGD:2307220, RGD:4145133 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP RGD PMID:17077588 RGD:1601591 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:21468558, PMID:23318412 RGD:13204970 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Pneumonia RGD PMID:19109203, PMID:20610040 RGD:4145324, RGD:4144177 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression:lung (human) RGD PMID:18633634 RGD:5130206 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter
CTD PMID:11394717 PMID:16324872 PMID:17266442 PMID:25216247 PMID:26368622, PMID:2156165, PMID:7542280, PMID:19154443, PMID:12030733 RGD:4142851, RGD:4143417, RGD:2314537, RGD:4143258 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO mRNA:increased expression:lung RGD PMID:19893041 RGD:5131599 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
G Vwf von Willebrand factor IEP associated with Radiation Injuries;protein:increased expression:lung parenchyma RGD PMID:8811296 RGD:11079207 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
diffuse pulmonary fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis ClinVar PMID:21506741 PMID:21506748 PMID:23321605 PMID:23692170 PMID:23695349 PMID:23940607 PMID:24033266 PMID:25926289 PMID:30345907 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
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: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:25741868 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,603,297...31,698,329
Ensembl chr 1:31,603,297...31,698,329
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Atp11a ATPase phospholipid transporting 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr16:81,990,340...82,100,222
Ensembl chr16:81,990,340...82,100,222
JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:24033266 PMID:25741868 NCBI chr15:52,166,401...52,210,786
Ensembl chr15:52,166,401...52,210,746
JBrowse link
G Brd4 bromodomain containing 4 ISO RGD PMID:23759512 RGD:9586353 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,939,612...31,968,120
Ensembl chr 1:31,939,585...31,967,915
JBrowse link
G Ccl12 chemokine (C-C motif) ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr10:69,476,866...69,478,416
Ensembl chr10:69,476,775...69,478,462
JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,834,977...31,864,938
Ensembl chr 1:31,835,000...31,864,628
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
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 chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Dpp9 dipeptidyl peptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 9:10,846,493...10,882,560
Ensembl chr 9:10,846,596...10,882,649
JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO RGD PMID:24652950 RGD:9589169 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,700,953...31,731,726
Ensembl chr 1:31,700,953...31,731,815
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10946084 RGD:11060143 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fam13a family with sequence similarity 13, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 4:89,183,180...89,281,282
Ensembl chr 4:89,183,768...89,281,222
JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:15148335 RGD:11049166 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO RGD PMID:15148335 RGD:11049166 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:178500 MouseDO NCBI chr 6:25,598,936...25,616,995
Ensembl chr 6:25,598,936...25,616,995
JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr12:17,309,122...17,315,267
Ensembl chr12:17,309,834...17,311,112
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO protein:increased expression:serum RGD PMID:14555548 RGD:5144236 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:21309737 RGD:5147438 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:lung,bronchoalveolar lavage fluid:
ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
ClinVar PMID:18447576 RGD:4890373 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr 7:3,216,392...3,224,202
Ensembl chr 7:3,216,497...3,224,201
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO mRNA, protein:increased expression:lung
CTD Direct Evidence: therapeutic
CTD PMID:28434932, PMID:21871427 RGD:8694097 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum: RGD PMID:22963039 RGD:7244290 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 PMID:23695349 PMID:23940607 PMID:24033266 PMID:25926289 PMID:30345907 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:32,054,390...32,085,416
Ensembl chr 1:32,058,044...32,084,877
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Parn poly(A)-specific ribonuclease ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848748 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO mRNA,protein:increased expression, increased activity:fibroblast RGD PMID:23260200 RGD:10413908 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,576,183...31,591,852
Ensembl chr 1:31,576,183...31,591,849
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:18491991 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21373184 RGD:5147566 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 PMID:24033266 PMID:25047097 PMID:25099625 PMID:25607374 PMID:25620558 PMID:25848748 PMID:26025130 PMID:28099038 PMID:28492532 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Rtkn2 rhotekin 2 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr20:21,919,486...22,004,279
Ensembl chr20:21,932,878...22,004,279
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to ClinVar PMID:13680361 PMID:24033266 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism
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 OMIM:178500
CTD
ClinVar
PMID:15039969 PMID:15516475 PMID:18383112 PMID:19443464 PMID:19910179 PMID:22308375 PMID:23025826 PMID:23775869 PMID:24033266 PMID:24081995 PMID:25657025 PMID:25741868 PMID:25782673 PMID:28492532 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:32,086,755...32,167,950
Ensembl chr 1:32,086,755...32,141,036
JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:32,221,679...32,235,599
Ensembl chr 1:32,221,636...32,236,051
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26599507 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30481203, PMID:22684844 RGD:6892915 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17392301 PMID:17460043 PMID:23535734 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by OMIM:178500
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutations, splice-site mutations:multiple
ClinVar
CTD
PMID:12167716 PMID:12629597 PMID:15814878 PMID:15885610 PMID:16247010 PMID:16627250 PMID:16990594 PMID:17264120 PMID:17392301 PMID:17460043 PMID:17785587 PMID:18042801 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20502709 PMID:20858879 PMID:20871597 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21483807 PMID:21520173 PMID:21520174 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22037553 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22664374 PMID:22853774 PMID:22863003 PMID:23066086 PMID:23157242 PMID:23335200 PMID:23348503 PMID:23535731 PMID:23535734 PMID:23538340 PMID:23583980 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25244922 PMID:25271372 PMID:25346280 PMID:25365545 PMID:25562321 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26194807 PMID:26329388 PMID:26360549 PMID:26365799 PMID:26433962 PMID:26887940 PMID:27192671 PMID:27418648 PMID:27824607 PMID:27854218 PMID:28102861 PMID:28154186 PMID:28192371 PMID:28492532 PMID:28677271 PMID:28767289 PMID:28813500 PMID:29036293 PMID:29382801 PMID:29483670 PMID:30203795 PMID:30426156 PMID:30995915 PMID:31265491, PMID:17392301 RGD:11038666 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfpi tissue factor pathway inhibitor severity ISO protein:increased expression:Bronchoalveolar lavage,epithelial cell: RGD PMID:10946084 RGD:11060143 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin severity ISO RGD PMID:20418386 RGD:5685036 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor ISS OMIM:178500 MouseDO NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,866,755...31,890,778
Ensembl chr 1:31,870,899...31,890,778
JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,967,980...32,012,923
Ensembl chr 1:31,967,978...32,012,919
JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28726637 NCBI chr16:4,469,451...4,490,271
Ensembl chr16:4,469,468...4,489,860
JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,906,049...31,936,603
Ensembl chr 1:31,906,064...31,936,537
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:15814878 PMID:15885610 PMID:16627250 PMID:17392301 PMID:17460043 PMID:18042801 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20858879 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21520173 PMID:21635204 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22853774 PMID:23538340 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25365545 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26365799 PMID:27854218 PMID:28102861 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29483670 PMID:30426156 PMID:31265491 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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
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 PMID:15098033 PMID:15319288 PMID:17392301 PMID:17640862 PMID:18753630 PMID:19760749 PMID:20022961 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:25612863 PMID:25741868 PMID:26024875 PMID:28492532 PMID:29146883 PMID:29483670 PMID:30426156 PMID:31265491 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
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 OMIM:616373
OMIM
ClinVar
PMID:23453664 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26025130 PMID:28492532 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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 ClinVar
OMIM
PMID:9736620 PMID:25741868 PMID:25848748 PMID:26810774 PMID:28099038 PMID:28492532 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
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 ClinVar
OMIM
PMID:25741868 PMID:31488579 NCBI chr12:38,303,665...38,327,174
Ensembl chr12:38,303,624...38,326,502
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Pathological Conditions, Signs and Symptoms 8761
      Pathologic Processes 6176
        Fibrosis 1428
          pulmonary fibrosis 220
            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 + 5
            diffuse pulmonary fibrosis 1
            idiopathic pulmonary fibrosis 64
            localized pulmonary fibrosis 0
            postinflammatory pulmonary fibrosis 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      respiratory system disease 2711
        lower respiratory tract disease 1644
          lung disease 1600
            interstitial lung disease 352
              pulmonary fibrosis 220
                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 + 5
                diffuse pulmonary fibrosis 1
                idiopathic pulmonary fibrosis 64
                localized pulmonary fibrosis 0
                postinflammatory pulmonary fibrosis 0
paths to the root