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 common interstitial lung disease of unknown etiology, usually occurring between 50-70 years of age. Clinically, it is characterized by an insidious onset of breathlessness with exertion and a nonproductive cough, leading to progressive DYSPNEA. Pathological features show scant interstitial inflammation, patchy collagen fibrosis, prominent fibroblast proliferation foci, and microscopic honeycomb change.
Synonyms: exact_synonym: Familial Idiopathic Pulmonary Fibrosis; Fibrocystic Pulmonary Dysplasia; Fibrocystic Pulmonary Dysplasias; IPF; Idiopathic Fibrosing Alveolitis, Chronic Form; Idiopathic Pulmonary Fibroses; cryptogenic fibrosing alveolitides; cryptogenic fibrosing alveolitis; usual interstitial pneumonia; usual interstitial pneumonias; usual interstitial pneumonitides; usual interstitial pneumonitis
narrow_synonym: Hamman Rich disease; Hamman-Rich diseases; UIP Hamman Rich disease
related_synonym: idiopathic pulmonary fibrosis, susceptibility to
primary_id: MESH:D054990
alt_id: OMIM:178500
xref: GARD:8609 ; ICD10CM:J84.112 ; ICD9CM:516.31 ; NCI:C35715 ; NCI:C35716
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
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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
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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 chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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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
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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
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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
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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
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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
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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
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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 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Parp1
poly (ADP-ribose) polymerase 1
ISO
mRNA,protein:increased expression, increased activity:fibroblast
RGD
PMID:23260200
RGD:10413908
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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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
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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
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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: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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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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
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Tnf
tumor necrosis factor
ISS
OMIM:178500
MouseDO
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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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
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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
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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
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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
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