pulmonary fibrosis - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:3770	browse the term
Definition:	An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. (DO)
Synonyms:	exact_synonym:	Fibrosing Alveolitis; fibrosing alveolitides; fibrosis of lung; pulmonary fibroses
	primary_id:	MESH:D011658
	xref:	EFO:0009448; NCI:C26869
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (238) Mouse (247) Human (1260) Chinchilla (195) Bonobo (212) Dog (236) Squirrel (194) Pig (230) Green Monkey (208) Naked Mole-rat (196) All
Genes (237) Strains (1)

pulmonary fibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

angiotensin I converting enzyme

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

G

angiotensin converting enzyme 2

associated with Lung Injury;protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:27550926 PMID:33007385 PMID:20581171

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: therapeutic

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

advanced glycosylation end product-specific receptor

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

G

angiotensinogen

treatment

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:28960804 PMID:31181250 PMID:24168260

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

arachidonate 5-lipoxygenase

protein:altered localization:alveolar macrophage, nuclear membrane

RGD

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

annexin A1

protein:decreased expression:lung

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

adaptor related protein complex 3 subunit beta 1

RGD

NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935

G

apolipoprotein A1

protein:decreased expression: respiratory system fluid/secretion

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

amphiregulin

CTD Direct Evidence: marker/mechanism

NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535

G

beta-1,3-glucuronyltransferase 1

protein:increased expression:lung

RGD

NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395

G

BCL2-associated agonist of cell death

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

bradykinin receptor B1

RGD

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

brain-derived neurotrophic factor

protein:increased expression:sputum

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

bone morphogenetic protein 7

CTD Direct Evidence: therapeutic

PMID:17975199 PMID:25733726

NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788

G

bromodomain containing 4

treatment

RGD

NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539

G

calcitonin-related polypeptide alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

calreticulin

protein:increased expression:lung

RGD

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

catalase

mRNA, protein:decreased expression:lung
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:19684199 PMID:21190578

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

caveolin 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:36053221 PMID:18759267

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 11

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

G

C-C motif chemokine ligand 17

mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion

RGD

PMID:15993846 PMID:19715610

RGD:2306304, RGD:4145488

NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819

G

C-C motif chemokine ligand 19

mRNA:increased expression:lung

RGD

NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung, eosinophil (rat)

CTD
RGD

PMID:16324872 PMID:17720292 PMID:26163174 PMID:20833968 PMID:7525714

RGD:4145112, RGD:8549730

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 21

mRNA:increased expression:lung

RGD

NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686

G

C-C motif chemokine ligand 22

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

G

C-C motif chemokine ligand 3

CTD Direct Evidence: marker/mechanism

PMID:16324872 PMID:17720292

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine ligand 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine ligand 5

protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17620002 PMID:20833968

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

cellular communication network factor 2

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844 PMID:19154443

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

C-C motif chemokine receptor 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14609568 PMID:15743780

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 3

associated with Lung Injury
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16314464 PMID:16314464

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 4

mRNA:increased expression:lung

RGD

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

C-C motif chemokine receptor 5

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

G

C-C motif chemokine receptor 8

mRNA:increased expression:lung

RGD

NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629

G

Cd28 molecule

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

CD36 molecule

severity

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

G

CD86 molecule

protein:increased expression:lung, dendritic cell (mouse)

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cadherin 1

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

G

CCAAT/enhancer binding protein alpha

CTD Direct Evidence: therapeutic

NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412

G

CCAAT/enhancer binding protein beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473

G

complement factor D

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053

G

CASP8 and FADD-like apoptosis regulator

mRNA,protein:increased expression:lung myofibroblast:

RGD

NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034

G

chitinase 3 like 1

severity

protein:increased secretion:serum, lung (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

cholinergic receptor, muscarinic 3

RGD

NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278

G

chymase 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233

G

collagen type I alpha 1 chain

treatment

associated with Middle East respiratory syndrome;

RGD

PMID:7511187 PMID:31838832 PMID:17579094

RGD:7257543, RGD:30309204, RGD:11041177

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

RGD

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

collagen type III alpha 1 chain

disease_progression

CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;

CTD
RGD

PMID:26817844 PMID:31838832

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

colony stimulating factor 2

mRNA:increased expression:lung:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17894541 PMID:9881949

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

C-X-C motif chemokine receptor 2

RGD

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

C-X-C motif chemokine receptor 3

associated with Lung Injury

RGD

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

cysteinyl leukotriene receptor 1

associated with Pneumonia
mRNA:increased expression:lung

RGD

PMID:14970333 PMID:20959046

RGD:4847792, RGD:4781441

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

cysteinyl leukotriene receptor 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15328359 PMID:20497024 PMID:15328359

RGD:4781445, RGD:5143997

NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136

G

defensin beta 1

protein:increased expression:serum

RGD

NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604

G

defensin beta 4

protein:increased expression:serum

RGD

NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665

G

defensin beta 5

protein:increased expression:serum

NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Pulmonary fibrosis

G

dynamin 1-like

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

G

desmoplakin

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

endothelin 1

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

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

epidermal growth factor receptor

mRNA:increased expression:lung (rat)

RGD

PMID:7524566 PMID:8879184 PMID:21177177

RGD:5131873, RGD:5131638, RGD:5131634

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

early growth response 1

disease_progression

mRNA:increased expression:lung (human)
mRNA:increased expression:lung (mouse)

RGD

PMID:19347046 PMID:20539010 PMID:19679873

RGD:4144870, RGD:5131877, RGD:5131644

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

elastase, neutrophil expressed

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

elastin

CTD Direct Evidence: marker/mechanism

PMID:10761639 PMID:26817844

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

coagulation factor II, thrombin

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor V

severity

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

family with sequence similarity 13, member A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860

G

fibroblast growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

FYN proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911

G

GTP cyclohydrolase 1

treatment

RGD

NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698

G

gremlin 1, DAN family BMP antagonist

CTD Direct Evidence: marker/mechanism

NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082

G

glutathione S-transferase pi 1

associated with Scleroderma, Systemic

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

hyaluronan binding protein 2

RGD

NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160

G

hepatocyte growth factor

associated with myositis;protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16324872 PMID:8952317

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

heat shock protein 90 alpha family class B member 1

protein:decreased expression:lung (rat)

RGD

NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488

G

heat shock protein family A (Hsp70) member 1A

CTD Direct Evidence: therapeutic

NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227

G

heat shock protein family A (Hsp70) member 1B

CTD Direct Evidence: therapeutic

NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240

G

heat shock protein family A (Hsp70) member 5

mRNA,protein:increased expression:lungs

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

heat shock protein family D (Hsp60) member 1

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

intercellular adhesion molecule 1

protein:increased expression:lung (rat)

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

insulin-like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

insulin-like growth factor binding protein 5

RGD

NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156

G

interleukin 12B

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...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

interleukin 13

treatment

idiopathic pulmonary fibrosis
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15322207 PMID:19654941 PMID:20176803 PMID:19154443

RGD:4145627, RGD:4888529, RGD:2314537

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 15

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

interleukin 17A

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

G

interleukin 18

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

G

interleukin 18 receptor 1

protein:increased expression:lung

RGD

NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715

G

interleukin 1 alpha

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

G

interleukin 1 beta

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

G

interleukin 1 receptor antagonist

disease_progression
susceptibility

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

G

interleukin 4

treatment

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

G

interleukin 5

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

G

interleukin 6

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17266442 PMID:25216247 PMID:20846163

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 9

associated with Silicosis

RGD

NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895

G

jagged canonical Notch ligand 1

protein:increased expression:lung

RGD

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

kinesin family member 15

ClinVar Annotator: match by term: Pulmonary fibrosis

NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750

G

laminin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585

G

leptin receptor

associated with Diabetes Mellitus, Type 2

RGD

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

lipoic acid synthetase

CTD Direct Evidence: therapeutic

NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783

G

mannose binding lectin 2

associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human)

RGD

NCBI chr 1:228,016,439...228,024,736

G

methyl CpG binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689

G

mitofusin 2

treatment

RGD

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

G

microRNA 101a

CTD Direct Evidence: therapeutic

NCBI chr 5:115,966,332...115,966,406
Ensembl chr 5:115,966,328...115,966,410

G

microRNA 10a

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280

G

microRNA 122

CTD Direct Evidence: marker/mechanism

NCBI chr18:58,758,703...58,758,787

G

microRNA 125a

CTD Direct Evidence: therapeutic

NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710

G

microRNA 140

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:25926378 PMID:32462952

NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675

G

microRNA 145

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

microRNA 193a

CTD Direct Evidence: therapeutic

NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454

G

microRNA 200c

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:25926378 PMID:29113749

NCBI chr 4:157,523,679...157,523,747

G

microRNA 21

treatment

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 223

disease_progression

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

microRNA 26b

CTD Direct Evidence: marker/mechanism

NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680

G

microRNA 30a

CTD Direct Evidence: marker/mechanism
RNA:decreased expression:lung

CTD
RGD

PMID:25926378 PMID:25284615

NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670

G

microRNA 326

CTD Direct Evidence: marker/mechanism

NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123

G

microRNA 345

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,754,027...127,754,122
Ensembl chr 6:127,754,027...127,754,122

G

microRNA 425

CTD Direct Evidence: marker/mechanism

NCBI chr 8:109,264,555...109,264,637
Ensembl chr 8:109,264,555...109,264,637

G

microRNA 451a

CTD Direct Evidence: therapeutic

NCBI chr10:62,961,520...62,961,591
Ensembl chr10:62,961,520...62,961,591

G

microRNA 490

CTD Direct Evidence: therapeutic

NCBI chr 4:65,047,548...65,047,631
Ensembl chr 4:65,047,548...65,047,631

G

matrix metallopeptidase 1

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 3

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

treatment

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

G

metallothionein 2A

CTD Direct Evidence: therapeutic

NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784

G

mechanistic target of rapamycin kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

mucin 5AC, oligomeric mucus/gel-forming

mRNA, protein:increased expression:lung
mRNA:increased expression:lung

RGD

PMID:14680076 PMID:19154443

RGD:5131207, RGD:2314537

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

mucin 5B, oligomeric mucus/gel-forming

ClinVar Annotator: match by term: Pulmonary fibrosis

NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250

G

nuclear assembly factor 1 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:25741868 PMID:28492532

NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23570914 PMID:19138753

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nerve growth factor

protein:increased expression:sputum

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nerve growth factor receptor

RGD

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

NK2 homeobox 5

mRNA:decreased expression:lung, fibroblast

RGD

NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

G

nitric oxide synthase 2

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

notch receptor 1

protein:increased expression:lung

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

neurotrophic receptor tyrosine kinase 2

mRNA, protein:increased expression:lung

RGD

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

poly(A)-specific ribonuclease

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:9736620 PMID:16199547 PMID:25741868 PMID:25848748 PMID:25893599 More...

NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27704718 PMID:23260200

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497

G

platelet derived growth factor subunit B

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

G

platelet derived growth factor receptor alpha

RGD

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

plasminogen activator, urokinase

treatment

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

G

presenilin 2

RGD

NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174

G

prostaglandin-endoperoxide synthase 2

associated with sarcoidosis; DNA:SNP: :-765G>C (human)

RGD

PMID:17825173 PMID:21681100

RGD:1642597, RGD:5135504

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

pentraxin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 More...

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

secretoglobin family 1A member 1

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

G

secretoglobin, family 3A, member 2

RGD

NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

serpin family E member 1

treatment

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

G

surfactant protein A1

disease_progression
susceptibility

mRNA:increased expression:lung
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
protein:decreased expression:lung

RGD

PMID:19347046 PMID:13680361 PMID:10543276

RGD:4144870, RGD:4143409, RGD:4143437

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

surfactant protein B

susceptibility

DNA:polymorphism (human)

RGD

NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436

G

surfactant protein C

susceptibility

DNA:polymorphisms: :p.M71V, p.I73T (human)
ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:15039969 PMID:15293602 PMID:15572558 PMID:15756222 PMID:17597647 More...

RGD:4144060, RGD:4144124

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

G

SKI-like proto-oncogene

CTD Direct Evidence: therapeutic

NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080

G

SMAD family member 4

treatment

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

G

SMAD family member 7

CTD Direct Evidence: therapeutic

NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 3

CTD Direct Evidence: therapeutic

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

G

secreted protein acidic and cysteine rich

associated with Middle East respiratory syndrome;mRNA:increased expression:lung:

RGD

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;mRNA:increased expression:lung:

CTD
RGD

PMID:25216247 PMID:31838832

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

signal transducer and activator of transcription 1

RGD

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30658076 PMID:22684844

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 6

CTD Direct Evidence: therapeutic

NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495

G

TGF-beta activated kinase 1/MAP3K7 binding protein 2

treatment

RGD

NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756

G

telomerase RNA component

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 More...

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17264120 More...

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tissue factor pathway inhibitor

treatment

RGD

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894

G

transforming growth factor, beta 1

treatment

CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;mRNA:increased expression:lung
protein:increased expression:lung
associated with Silicosis
associated with Asthma

CTD
RGD

PMID:15286001 PMID:16324872 PMID:16365456 PMID:17266442 PMID:19817698 More...

RGD:4145279, RGD:30309204, RGD:14995444, RGD:4145112, RGD:2307220, RGD:4145133

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transforming growth factor, beta receptor 2

RGD

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

TIMP metallopeptidase inhibitor 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21468558 PMID:23318412

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:18252230 PMID:21536674 PMID:28492532

NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984

G

toll-like receptor 2

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

G

toll-like receptor 4

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

G

toll-like receptor 9

mRNA:increased expression:lung (human)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

treatment

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter

CTD
RGD

PMID:11394717 PMID:16324872 PMID:17266442 PMID:25216247 PMID:26368622 More...

RGD:4142851, RGD:4143258, RGD:2314537, RGD:4143417

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

twist family bHLH transcription factor 1

mRNA:increased expression:lung

RGD

NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653

G

von Willebrand factor

associated with Radiation Injuries;protein:increased expression:lung parenchyma

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

diffuse pulmonary fibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis

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

idiopathic pulmonary fibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia

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

G

AKT serine/threonine kinase 1

mRNA:increased expression:blood plasma (human)

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

apolipoprotein A1

protein: decreased expression: respiratory system fluid/secretion

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

ATPase phospholipid transporting 11A

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640

G

bone morphogenetic protein 1

ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776

G

bromodomain containing 4

RGD

NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539

G

C-C motif chemokine ligand 12

CTD Direct Evidence: therapeutic

NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780

G

CASP8 and FADD-like apoptosis regulator

mRNA,protein:increased expression:lung myofibroblast:

RGD

NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034

G

C-X-C motif chemokine ligand 6

DNA:polymorphism:promoter:-156G>C (human)
protein:increased expression:lung, macrophage, type II pneumocyte

RGD

PMID:20137269 PMID:11751193

RGD:5135241, RGD:5135250

NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093

G

discoidin domain receptor tyrosine kinase 1

treatment

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

G

dipeptidyl peptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541

G

desmoplakin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

euchromatic histone lysine methyltransferase 2

RGD

NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547

G

E1A binding protein p300

treatment

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

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

coagulation factor III, tissue factor

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

family with sequence similarity 13, member A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia

NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860

G

Fas cell surface death receptor

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

fibroblast growth factor receptor 2

protein:increased expression:lung (human)

RGD

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

FOS like 2, AP-1 transcription factor subunit

OMIM:178500

NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034

G

G protein-coupled estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: therapeutic

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

interleukin 1 receptor-like 1

protein:increased expression:serum

RGD

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 2 receptor subunit alpha

RGD

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

microRNA 184

RNA:decreased expression:blood plasma (human)

RGD

NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210

G

microRNA 31

RNA:increased expression:blood plasma (human)

RGD

NCBI chr 5:103,599,038...103,599,143

G

matrix metallopeptidase 1

protein:increased expression:lung,bronchoalveolar lavage fluid:

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 3

mRNA, protein:increased expression:lung
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:28434932 PMID:21871427

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

mucin 1, cell surface associated

protein:increased expression:serum:

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

mucin 5B, oligomeric mucus/gel-forming

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia

OMIM
CTD
ClinVar

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

G

neurotrophic receptor tyrosine kinase 2

mRNA:increased expression:lung

RGD

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

poly(A)-specific ribonuclease

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560

G

poly (ADP-ribose) polymerase 1

mRNA,protein:increased expression, increased activity:fibroblast

RGD

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

plasminogen activator, urokinase

CTD Direct Evidence: therapeutic

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

prostaglandin-endoperoxide synthase 2

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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

regulator of telomere elongation helicase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia

PMID:25607374 PMID:25741868 PMID:25848748 PMID:28492532

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

SET domain containing 2, histone lysine methyltransferase

exacerbates

associated with lung squamous cell carcinoma; DNA:mutations:multiple (human)

RGD

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

surfactant protein A1

ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to

PMID:13680361 PMID:24033266 PMID:25741868

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

surfactant protein C

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia

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

G

SMAD family member 2

mRNA:increased expression:blood plasma (human)

RGD

NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323

G

SMAD family member 6

mRNA:decreased expression:blood plasma (human)

RGD

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

G

ST14 transmembrane serine protease matriptase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30481203 PMID:22684844

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

STN1 subunit of CST complex

CTD Direct Evidence: marker/mechanism

NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531

G

telomerase RNA component

CTD Direct Evidence: marker/mechanism

PMID:17392301 PMID:17460043 PMID:23535734

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

DNA:deletion, missense mutations, splice-site mutations:multiple
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9536098 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17392301 More...

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tissue factor pathway inhibitor

severity

protein:increased expression:Bronchoalveolar lavage,epithelial cell:

RGD

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

thrombomodulin

severity

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism
OMIM:178500

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

toll interacting protein

ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia

NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625

G

Wnt family member 5A

CTD Direct Evidence: marker/mechanism

NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1

PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16627250 More...

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

telomerase RNA component

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2

PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More...

NCBI chr 2:112,815,654...112,816,041

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation elongation factor 1 alpha 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071

G

fibronectin type III domain containing 11

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617

G

glucocorticoid modulatory element binding protein 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788

G

helicase with zinc finger 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

G

pancreatic progenitor cell differentiation and proliferation factor

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036

G

protein tyrosine kinase 6

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3

PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 More...

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915

G

stathmin 3

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

poly(A)-specific ribonuclease

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4

PMID:9536098 PMID:9736620 PMID:16199547 PMID:16281054 PMID:17576681 More...

NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger CCHC-type containing 8

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | ClinVar Annotator: match by term: ZCCHC8-related condition

PMID:25741868 PMID:28492532 PMID:31488579

NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

replication protein A1

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

PMID:25741868 PMID:34767620

NCBI chr10:60,148,869...60,199,970
Ensembl chr10:60,148,793...60,199,949

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear assembly factor 1 ribonucleoprotein

ClinVar Annotator: match by term: NAF1-related condition | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

PMID:25741868 PMID:27510903 PMID:28492532

NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protection of telomeres 1

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8

NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9

NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942

Term paths to the root

Path 1
Term	Annotations
disease	19134
Pathological Conditions, Signs and Symptoms	13622
Pathologic Processes	8324
Fibrosis	1595
pulmonary fibrosis	238
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 Syndrome, Telomere-Related +	18
diffuse pulmonary fibrosis	1
idiopathic pulmonary fibrosis	53
localized pulmonary fibrosis	0
postinflammatory pulmonary fibrosis	0
Path 2
Term	Annotations
disease	19134
disease of anatomical entity	18447
respiratory system disease	5244
lower respiratory tract disease	2353
lung disease	2314
interstitial lung disease	556
pulmonary fibrosis	238
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 Syndrome, Telomere-Related +	18
diffuse pulmonary fibrosis	1
idiopathic pulmonary fibrosis	53
localized pulmonary fibrosis	0
postinflammatory pulmonary fibrosis	0

paths to the root