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: idiopathic pulmonary fibrosis
Accession: DOID:0050156
browse the term
Definition: A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. (DO)
Synonyms: exact_synonym: IPF; Idiopathic Fibrosing Alveolitis, Chronic Form; cryptogenic fibrosing alveolitis; familial idiopathic pulmonary fibrosis; fibrocystic pulmonary dysplasia; fibrocystic pulmonary dysplasias; idiopathic pulmonary fibroses
narrow_synonym: Hamman Rich disease; UIP Hamman Rich disease
broad_synonym: SFTPA2-related condition
related_synonym: idiopathic pulmonary fibrosis, susceptibility to; usual interstitial pneumonia; usual interstitial pneumonias; usual interstitial pneumonitis
xref: EFO:0000768 ; GARD:8609 ; ICD10CM:J84.112 ; ICD9CM:516.31 ; MESH:D054990 ; NCI:C35715 ; NCI:C35716
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Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,887,083...13,944,285
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Akt1
AKT serine/threonine kinase 1
ISO
mRNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610
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Apoa1
apolipoprotein A1
ISO
protein: decreased expression: respiratory system fluid/secretion
RGD
PMID:20463180
RGD:5508222
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729
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Atp11a
ATPase phospholipid transporting 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr16:83,359,884...83,469,807
Ensembl chr16:83,359,884...83,469,767
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Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr15:51,961,310...52,005,597
Ensembl chr15:51,961,310...52,005,485
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Brd4
bromodomain containing 4
ISO
RGD
PMID:23759512
RGD:9586353
NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,866,997...11,946,923
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Ccl12
C-C motif chemokine ligand 12
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28434932
NCBI chr10:67,567,876...67,569,426
Ensembl chr10:67,567,876...67,569,426
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
mRNA,protein:increased expression:lung myofibroblast:
RGD
PMID:22582174
RGD:11341695
NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:67,679,559...67,726,434
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
DNA:polymorphism:promoter:-156G>C (human) protein:increased expression:lung, macrophage, type II pneumocyte
RGD
PMID:20137269 PMID:11751193
RGD:5135241 , RGD:5135250
NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,594,959...17,596,417
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Ddr1
discoidin domain receptor tyrosine kinase 1
treatment
ISO IMP
mRNA:increased expression:lung (human)
RGD
PMID:30119248 PMID:30119248
RGD:151347411 , RGD:151347411
NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,050,375...3,069,276
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Dpp9
dipeptidyl peptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr 9:1,098,505...1,133,500
Ensembl chr 9:1,095,929...1,177,715
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Dsp
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD ClinVar
PMID:23583980
NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
RGD
PMID:24652950
RGD:9589169
NCBI chr20:3,924,263...3,941,238
Ensembl chr20:3,924,263...3,941,384
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Ep300
E1A binding protein p300
treatment
ISO IMP
mRNA:increased expression:lung (human)
RGD
PMID:30119248 PMID:30119248
RGD:151347411 , RGD:151347411
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30165855
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:43,644,392...43,900,354
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F3
coagulation factor III, tissue factor
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10946084
RGD:11060143
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:212,511,680...212,523,369
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Fam13a
family with sequence similarity 13, member A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD ClinVar
PMID:23583980
NCBI chr 4:89,386,685...89,485,940
Ensembl chr 4:89,388,569...89,485,988
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Fas
Fas cell surface death receptor
ISO
RGD
PMID:15148335
RGD:11049166
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
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Faslg
Fas ligand
ISO
RGD
PMID:15148335
RGD:11049166
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503
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Fgfr2
fibroblast growth factor receptor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISS
OMIM:178500
MouseDO
NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:30,021,916...30,039,406
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Gper1
G protein-coupled estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30165855
NCBI chr12:20,331,073...20,336,527
Ensembl chr12:20,327,679...20,337,144
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28434932
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323
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Il1rl1
interleukin 1 receptor-like 1
ISO
protein:increased expression:serum
RGD
PMID:14555548
RGD:5144236
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
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Il2ra
interleukin 2 receptor subunit alpha
ISO
RGD
PMID:21309737
RGD:5147438
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507
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Mir184
microRNA 184
ISO
RNA:decreased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 8:99,222,982...99,223,058
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Mir31
microRNA 31
ISO
RNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 5:108,714,849...108,714,954
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Mmp1
matrix metallopeptidase 1
ISO
protein:increased expression:lung,bronchoalveolar lavage fluid:
RGD
PMID:18447576
RGD:4890373
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964
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Mmp3
matrix metallopeptidase 3
ISO
mRNA, protein:increased expression:lung CTD Direct Evidence: therapeutic
CTD RGD
PMID:28434932 PMID:21871427
RGD:8694097
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum:
RGD
PMID:22963039
RGD:7244290
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 PMID:23695349 PMID:23940607 PMID:24033266 PMID:25926289 PMID:30345907 More...
NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:206,346,400...206,378,367
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:lung
RGD
PMID:21330466
RGD:5684550
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628
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Parn
poly(A)-specific ribonuclease
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25848748
NCBI chr10:1,917,830...2,055,749
Ensembl chr10:1,917,830...2,055,722
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Parp1
poly (ADP-ribose) polymerase 1
ISO
mRNA,protein:increased expression, increased activity:fibroblast
RGD
PMID:23260200
RGD:10413908
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18491991
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
DNA:SNPs: :3050G>C, 8473C>T (human) protein:decreased expression:lung:
RGD
PMID:21319594 PMID:20203246 PMID:14511257
RGD:5135280 , RGD:5135461 , RGD:5135507
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:21373184
RGD:5147566
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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Rtel1
regulator of telomere elongation helicase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD ClinVar
PMID:25607374 PMID:25741868 PMID:25848748 PMID:28492532
NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:188,807,951...188,843,709
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Setd2
SET domain containing 2, histone lysine methyltransferase
exacerbates
ISO
associated with lung squamous cell carcinoma; DNA:mutations:multiple (human)
RGD
PMID:33533494
RGD:150429642
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863
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Sftpa1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to
ClinVar
PMID:13680361 PMID:24033266 PMID:25741868
NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,042,255...17,045,769
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Sftpc
surfactant protein C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD ClinVar
PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 PMID:19443464 PMID:19910179 PMID:22308375 PMID:23775869 PMID:24033266 PMID:24081995 PMID:24347114 PMID:25657025 PMID:25741868 PMID:27362365 PMID:28492532 PMID:33526882 More...
NCBI chr15:52,006,274...52,009,324
Ensembl chr15:52,006,283...52,009,475
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Smad2
SMAD family member 2
ISO
mRNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388
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Smad6
SMAD family member 6
ISO
mRNA:decreased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149
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St14
ST14 transmembrane serine protease matriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26599507
NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:37,798,995...37,855,652
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30481203 PMID:22684844
RGD:6892915
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
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Stn1
STN1 subunit of CST complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736
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Terc
telomerase RNA component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17392301 PMID:17460043 PMID:23535734
NCBI chr 2:114,744,148...114,744,535
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Tert
telomerase reverse transcriptase
ISO
DNA:deletion, missense mutations, splice-site mutations:multiple CTD Direct Evidence: marker/mechanism 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 ClinVar RGD
PMID:9536098 PMID:15814878 PMID:15885610 PMID:16247010 PMID:16627250 PMID:16990594 PMID:17392301 PMID:17460043 PMID:17576681 PMID:18042801 PMID:18460650 PMID:18635888 PMID:18931339 PMID:19561322 PMID:19674077 PMID:19760749 PMID:20301779 PMID:20502709 PMID:20858879 PMID:21436073 PMID:21483807 PMID:21520174 PMID:21602826 PMID:22424236 PMID:22853774 PMID:23535734 PMID:23538340 PMID:23583980 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24763404 PMID:24833766 PMID:24983628 PMID:25346280 PMID:25365545 PMID:25562321 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26329388 PMID:26365799 PMID:26580448 PMID:26859482 PMID:26887940 PMID:27192671 PMID:27418648 PMID:27540018 PMID:27848944 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28813500 PMID:29036293 PMID:29483670 PMID:30203795 PMID:30426156 PMID:30523342 PMID:30791107 PMID:31268371 PMID:33709208 PMID:33850299 PMID:34019641 PMID:34482403 PMID:34565437 PMID:34890115 PMID:35078193 PMID:35106810 PMID:35776903 PMID:35927969 PMID:36622818 PMID:37096215 PMID:37944684 PMID:17392301 More...
RGD:11038666
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
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Tfpi
tissue factor pathway inhibitor
severity
ISO
protein:increased expression:Bronchoalveolar lavage,epithelial cell:
RGD
PMID:10946084
RGD:11060143
NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:89,939,868...89,980,742
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Thbd
thrombomodulin
severity
ISO
RGD
PMID:20418386
RGD:5685036
NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582
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Tnf
tumor necrosis factor
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:178500
CTD MouseDO
PMID:8473757
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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Tollip
toll interacting protein
ISO
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar
NCBI chr 1:206,391,120...206,413,809
Ensembl chr 1:206,380,308...206,411,988
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Wnt5a
Wnt family member 5A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28726637
NCBI chr16:3,702,300...3,724,860
Ensembl chr16:3,703,665...3,724,860
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