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: interstitial lung disease
Accession: DOID:3082
browse the term
Definition: A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. (DO)
Synonyms: exact_synonym: ILD; alveolitis; diffuse parenchymal lung diseases; interstitial lung diseases; interstitial pneumonia; interstitial pneumonias; interstitial pneumonitides; interstitial pneumonitis; pulmonary alveolitis
primary_id: MESH:D017563
xref: EFO:0004244 ; EFO:0009624 ; GARD:13336 ; ICD10CM:J84.9 ; NCI:C164315 ; OMIM:PS619611
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ClinVar Annotator: match by term: Interstitial lung disease
ClinVar
PMID:25741868
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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AP3B1
adaptor related protein complex 3 subunit beta 1
IAGP
associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human)
RGD
PMID:22009278
RGD:11096518
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
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BDNF
brain derived neurotrophic factor
IEP
associated with Sjogren's Syndrome;protein:decreased expression:serum:
RGD
PMID:24691584
RGD:8657022
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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CCL17
C-C motif chemokine ligand 17
IEP
protein:increased expression:serum
RGD
PMID:18276722
RGD:4145606
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
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CCL2
C-C motif chemokine ligand 2
treatment
IEP ISO
associated with Scleroderma, Systemic;protein:increased expression:plasma associated with Arthritis, Rheumatoid;protein:increased expression:serum associated with Scleroderma, Systemic;protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20404807 PMID:1387671 PMID:20056091 PMID:19615053
RGD:4142853 , RGD:8549558 , RGD:4891442 , RGD:4891453
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20089076
RGD:4891431
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCR2
C-C motif chemokine receptor 2
severity
IEP
protein:increased expression: T cell
RGD
PMID:16095529
RGD:4145064
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CCR5
C-C motif chemokine receptor 5
IEP
associated with Scleroderma, Systemic; protein:increased expression:blood, T cell (human)
RGD
PMID:18383361
RGD:4892085
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CD28
CD28 molecule
IEP
RGD
PMID:20030671
RGD:5131613
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
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CMA1
chymase 1
IEP
protein:increased expression:lung, mast cell (human)
RGD
PMID:17334631
RGD:5128816
NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
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COPA
COPI coat complex subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25894502
NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
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CXCL10
C-X-C motif chemokine ligand 10
IEP
protein:increased expression:alveolar macrophage protein:increased expression:serum
RGD
PMID:19816001 PMID:19565490
RGD:5135305 , RGD:5135306
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL9
C-X-C motif chemokine ligand 9
IEP
protein:increased expression:alveolar macrophage protein:increased expression:serum
RGD
PMID:19816001 PMID:19565490
RGD:5135305 , RGD:5135306
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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DES
desmin
IAGP
ClinVar Annotator: match by term: Interstitial lung disease
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 More...
NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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ENG
endoglin
IAGP
ClinVar Annotator: match by term: Interstitial pneumonitis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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FARSB
phenylalanyl-tRNA synthetase subunit beta
IAGP
ClinVar Annotator: match by term: Interstitial pneumonitis
ClinVar
PMID:29979980
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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HGF
hepatocyte growth factor
severity
IAGP
associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human)
RGD
PMID:21520010
RGD:8548623
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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HMOX1
heme oxygenase 1
IEP
Idiopathic Interstitial Pneumonias;protein:increased expression:lung
RGD
PMID:11727267
RGD:4145416
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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IDUA
alpha-L-iduronidase
IAGP
ClinVar Annotator: match by term: Interstitial pneumonitis
ClinVar
PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 More...
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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IL18
interleukin 18
IEP ISO
associated with dermatomyositis; protein:increased expression:serum associated with Pseudomonas Infection; protein:increased expression:lung
RGD
PMID:20601655 PMID:21257923 PMID:20543002
RGD:4889547 , RGD:5144220 , RGD:4889883
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1A
interleukin 1 alpha
susceptibility
IAGP ISO
associated with sclerosis: DNA:SNPs:5' UTR, exon, intron: associated with Immune Complex Diseases
RGD
PMID:12528118 PMID:1826836
RGD:4142806 , RGD:7794767
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1RN
interleukin 1 receptor antagonist
IEP
associated with Scleroderma, Systemic;protein:increased expression:plasma protein:increased expression:alveolar macrophage
RGD
PMID:20404807 PMID:8342915
RGD:4142853 , RGD:4143199
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL2
interleukin 2
IDA
RGD
PMID:21257923
RGD:5144220
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL4R
interleukin 4 receptor
IDA
Idiopathic Interstitial Pneumonias
RGD
PMID:15161635
RGD:4890021
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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KIT
KIT proto-oncogene, receptor tyrosine kinase
IEP
RGD
PMID:15887294
RGD:12910743
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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LOC110806263
TERT 5' regulatory region
IAGP
ClinVar Annotator: match by term: Interstitial lung disease
ClinVar
PMID:25741868 PMID:28492532 PMID:31268371
NCBI chr 5:1,294,628...1,298,988
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MMP9
matrix metallopeptidase 9
IEP IDA
associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17643278 PMID:20185904
RGD:5130207 , RGD:5130857
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MPO
myeloperoxidase
IEP
associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17643278
RGD:5130207
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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MUC1
mucin 1, cell surface associated
severity
IEP
protein:increased expression:serum associated with Scleroderma, Systemic;protein:increased expression:serum
RGD
PMID:15088311 PMID:15654008 PMID:19286849
RGD:5131176 , RGD:5131173 , RGD:4143496
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
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NGF
nerve growth factor
IEP
associated with Sjogren's Syndrome;protein:increased expression:serum:
RGD
PMID:24691584
RGD:8657022
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NOS2
nitric oxide synthase 2
IEP
protein:increased expression:lung
RGD
PMID:11789718
RGD:4891449
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NR3C1
nuclear receptor subfamily 3 group C member 1
disease_progression
IEP
protein:increased expression:lung
RGD
PMID:4028852
RGD:4892567
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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PADI4
peptidyl arginine deiminase 4
IAGP
ClinVar Annotator: match by term: Interstitial lung disease
ClinVar
PMID:25741868
NCBI chr 1:17,308,197...17,364,004
Ensembl chr 1:17,308,195...17,364,004
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SERPINE1
serpin family E member 1
susceptibility
IAGP
Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:12765340
RGD:4144846
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SFTPA1
surfactant protein A1
IEP
protein:decreased expression:lung protein:increased expression:serum
RGD
PMID:11445799 PMID:9216212
RGD:4143430 , RGD:4143449
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPB
surfactant protein B
IAGP IEP
associated with Scleroderma, Systemic;DNA:SNP: :p.T131I (rs1130866) (human) protein:decreased expression:lung
RGD
PMID:18263595 PMID:11445799
RGD:4143377 , RGD:4143430
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SFTPC
surfactant protein C
susceptibility
IAGP IEP ISO
DNA:mutations: :multiple (human) ClinVar Annotator: match by term: Interstitial lung disease DNA:missense mutation:exon:p.I73T (human) protein:decreased expression:lung DNA:polymorphism:exon:p.N186S (human)
ClinVar RGD
PMID:25741868 PMID:19443464 PMID:15756222 PMID:11445799 PMID:16423270 PMID:12519727 More...
RGD:4144064 , RGD:4143400 , RGD:4143430 , RGD:4144126 , RGD:4143413
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SFTPD
surfactant protein D
IEP
associated with Scleroderma, Systemic;protein:increased expression:serum
RGD
PMID:19286849 PMID:9216212
RGD:4143496 , RGD:4143449
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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SLC26A1
solute carrier family 26 member 1
IAGP
ClinVar Annotator: match by term: Interstitial pneumonitis
ClinVar
PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 More...
NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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TERT
telomerase reverse transcriptase
IAGP
ClinVar Annotator: match by term: Interstitial lung disease
ClinVar
PMID:25741868 PMID:28492532 PMID:31268371
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TGFB1
transforming growth factor beta 1
IEP
associated with Arthritis, Rheumatoid;protein:increased expression:serum
RGD
PMID:18846962
RGD:4145270
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TLR9
toll like receptor 9
IEP
mRNA, protein:increased expression:lung (human)
RGD
PMID:18633634
RGD:5130206
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNFRSF13B
TNF receptor superfamily member 13B
IAGP
ClinVar Annotator: match by term: Interstitial lung disease
ClinVar
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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ATP1A4
ATPase Na+/K+ transporting subunit alpha 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394417
NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
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FLACC1
flagellum associated containing coiled-coil domains 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394417
NCBI chr 2:201,288,271...201,364,289
Ensembl chr 2:201,288,271...201,357,398
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FNBP1P1
formin binding protein 1 pseudogene 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394417
NCBI chr 2:74,120,519...74,121,816
Ensembl chr 2:74,120,680...74,123,218
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IL1A
interleukin 1 alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20005085
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1B
interleukin 1 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20005085
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20005085
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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RBM26
RNA binding motif protein 26
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394417
NCBI chr13:79,311,827...79,406,255
Ensembl chr13:79,311,824...79,406,477
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20005085
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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AGT
angiotensinogen
ISO
protein:increased expression:kidney, urine mRNA, protein:increased expression:liver, plasma
RGD
PMID:21282555 PMID:7550093
RGD:5129185 , RGD:11039051
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR1
angiotensin II receptor type 1
ISO
protein:increased expression:kidney
RGD
PMID:21282555
RGD:5129185
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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BAX
BCL2 associated X, apoptosis regulator
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:12234300
RGD:1579984
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCL2
BCL2 apoptosis regulator
ISO
mRNA, protein:decreased expression:kidney
RGD
PMID:12234300
RGD:1579984
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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CCL17
C-C motif chemokine ligand 17
ISO
mRNA:increased expression:glomerulus
RGD
PMID:20071465
RGD:4145614
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
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CCL2
C-C motif chemokine ligand 2
treatment
ISO
mRNA:increased expression:glomerulus
RGD
PMID:21894146 PMID:20071465 PMID:17898087
RGD:6218988 , RGD:4145614 , RGD:2307059
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL22
C-C motif chemokine ligand 22
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:12651599
RGD:2306306
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
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CCL4
C-C motif chemokine ligand 4
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17898087
RGD:2307059
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCL5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17898087
RGD:2307059
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CD274
CD274 molecule
treatment
ISO
RGD
PMID:21965585
RGD:7248671
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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CD40
CD40 molecule
ISO
RGD
PMID:15210767
RGD:7248442
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
ISO
RGD
PMID:15458437
RGD:5508170
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CD80
CD80 molecule
ISO
RGD
PMID:10712436
RGD:6902936
NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
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CFB
complement factor B
ISO
RGD
PMID:22492944
RGD:7242700
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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CLU
clusterin
ISO
protein:increased expression:urine
RGD
PMID:23791361
RGD:9068422
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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CSF1
colony stimulating factor 1
treatment
ISO
RGD
PMID:19242505
RGD:7257569
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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CSF1R
colony stimulating factor 1 receptor
treatment ameliorates
ISO
RGD
PMID:19242505 PMID:21519331
RGD:7257569 , RGD:151665824
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment
IMP IDA ISO
RGD
PMID:10712436 PMID:8206086 PMID:10712436
RGD:6902936 , RGD:11352257 , RGD:6902936
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:19590241
RGD:4891946
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
mRNA, protein:increased expression:glomerulus
RGD
PMID:19590241
RGD:4891946
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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CXCL12
C-X-C motif chemokine ligand 12
ISO
mRNA:increased expression:glomerulus
RGD
PMID:17557270
RGD:2306579
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
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DUSP1
dual specificity phosphatase 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:8587253
RGD:633769
NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
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FCGR3A
Fc gamma receptor IIIa
no_association
IAGP
DNA:cnv: : DNA:polymorphism:exon:(rs396991)(human)
RGD
PMID:19946017 PMID:19640933
RGD:5508400 , RGD:5508403
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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GP6
glycoprotein VI platelet
ISO
RGD
PMID:20651232
RGD:7242710
NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
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HLA-DPB1
major histocompatibility complex, class II, DP beta 1
IAGP
RGD
PMID:21569485
RGD:5147561
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
DNA:polymorphism (human)
RGD
PMID:21569485
RGD:5147561
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IL10
interleukin 10
treatment
ISO
RGD
PMID:23826305
RGD:7365004
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL17A
interleukin 17A
treatment
ISO
RGD
PMID:23826305
RGD:7365004
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
ISO
RGD
PMID:22046355
RGD:6893447
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1B
interleukin 1 beta
ISO
mRNA:increased expression:kidney (mouse) mRNA, protein:increased expression:kidney
RGD
PMID:22046355 PMID:9198037
RGD:6893447 , RGD:7401232
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
ISO
RGD
PMID:20071465
RGD:4145614
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL4
interleukin 4
ISO
RGD
PMID:9350645 PMID:17898087
RGD:2317673 , RGD:2307059
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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ITGA4
integrin subunit alpha 4
treatment
ISO
RGD
PMID:9032136 PMID:7679412
RGD:2308810 , RGD:9698425
NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
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MAPK14
mitogen-activated protein kinase 14
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,782...36,111,236
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MAPK8
mitogen-activated protein kinase 8
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:10780884
RGD:1642011
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MMP12
matrix metallopeptidase 12
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
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MMP14
matrix metallopeptidase 14
ISO
mRNA:increased expression:kidney, macrophage
RGD
PMID:10878552
RGD:2314954
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NPPB
natriuretic peptide B
ISO
RGD
PMID:11729234
RGD:7248605
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:21965585
RGD:7248671
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PF4
platelet factor 4
treatment
ISO
RGD
PMID:7573480
RGD:329901920
NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027
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PPARA
peroxisome proliferator activated receptor alpha
ISO
RGD
PMID:17888025
RGD:5563035
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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PTK2B
protein tyrosine kinase 2 beta
ISO
protein:increased expression:glomerulus
RGD
PMID:11774117
RGD:729912
NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
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RAPGEF1
Rap guanine nucleotide exchange factor 1
ISO
protein:increased expression:renal glomerulus
RGD
PMID:18784646
RGD:11534983
NCBI chr 9:131,576,775...131,740,076
Ensembl chr 9:131,576,770...131,740,076
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SELP
selectin P
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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SLC34A1
solute carrier family 34 member 1
ISO
protein:decreased expression:kidney, brush border membrane (mouse)
RGD
PMID:19193726
RGD:7242947
NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
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SLIT2
slit guidance ligand 2
ISO
mRNA:decreased expression:kidney, glomerulus
RGD
PMID:15215188
RGD:2316132
NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:20504883
RGD:6903276
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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SYK
spleen associated tyrosine kinase
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
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TNF
tumor necrosis factor
ISO
RGD
PMID:21894146
RGD:6218988
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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VCAM1
vascular cell adhesion molecule 1
ISO
protein:increased expression:urine, serum:
RGD
PMID:23460853
RGD:7241232
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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XCL1
X-C motif chemokine ligand 1
ISO
mRNA:increased expression:glomerulus
RGD
PMID:9717977
RGD:8693304
NCBI chr 1:168,576,605...168,582,069
Ensembl chr 1:168,576,605...168,582,069
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ARG1
arginase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26699812
NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
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ATF6
activating transcription factor 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25324550
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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CFD
complement factor D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22832039
NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
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CLCA1
chloride channel accessory 1
ISO
mRNA, protein:increased expression:lung
RGD
PMID:17637221
RGD:4145655
NCBI chr 1:86,468,927...86,500,259
Ensembl chr 1:86,468,368...86,500,259
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
IEP
mRNA:decreased expression:leukocyte
RGD
PMID:20514434
RGD:4892076
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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DDIT3
DNA damage inducible transcript 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25324550
NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
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EPHX1
epoxide hydrolase 1
susceptibility
IAGP
DNA:SNP:exon:p.Y113H (rs1051740) (human)
RGD
PMID:17159790
RGD:4889408
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
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GSTM1
glutathione S-transferase mu 1
susceptibility
IAGP
DNA:deletion: :
RGD
PMID:9055949
RGD:5490588
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTT1
glutathione S-transferase theta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17563610
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HSPA5
heat shock protein family A (Hsp70) member 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25324550
NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
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IL1B
interleukin 1 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8473757
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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NLRP3
NLR family pyrin domain containing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24142982
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NOS2
nitric oxide synthase 2
ISO EXP
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:lung
CTD RGD
PMID:12160931 PMID:12160931 PMID:12051993
RGD:4891441 , RGD:4891438
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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PRDX1
peroxiredoxin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22537621
NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
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PRDX2
peroxiredoxin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22537621
NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800
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SERPINA1
serpin family A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12368052
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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SPP1
secreted phosphoprotein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16221779 PMID:21514415
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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TNC
tenascin C
IEP
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8473757 PMID:20486865
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TPM4
tropomyosin 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22537621
NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,002
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ACKR1
atypical chemokine receptor 1 (Duffy blood group)
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,204,875...159,206,500
Ensembl chr 1:159,204,875...159,206,500
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ADAMTS4
ADAM metallopeptidase with thrombospondin type 1 motif 4
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,184,302...161,199,054
Ensembl chr 1:161,184,302...161,199,054
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AIM2
absent in melanoma 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,055,051...159,147,132
Ensembl chr 1:159,061,599...159,187,843
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APCS
amyloid P component, serum
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865
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APOA2
apolipoprotein A2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
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ARHGAP30
Rho GTPase activating protein 30
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,046,946...161,069,891
Ensembl chr 1:161,046,946...161,069,970
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ATF6
activating transcription factor 6
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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ATP1A4
ATPase Na+/K+ transporting subunit alpha 4
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
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B4GALT3
beta-1,4-galactosyltransferase 3
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,171,310...161,177,968
Ensembl chr 1:161,171,310...161,177,968
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C1orf226
chromosome 1 open reading frame 226
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:162,378,841...162,386,812
Ensembl chr 1:162,378,841...162,386,812
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CADM3
cell adhesion molecule 3
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313
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CASQ1
calsequestrin 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886
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CD244
CD244 molecule
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887
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CD48
CD48 molecule
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,678,746...160,711,822
Ensembl chr 1:160,678,746...160,711,831
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CD84
CD84 molecule
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,541,098...160,579,496
Ensembl chr 1:160,541,095...160,579,516
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CFAP126
cilia and flagella associated protein 126
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,364,733...161,367,876
Ensembl chr 1:161,364,733...161,367,876
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CFAP45
cilia and flagella associated protein 45
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165
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COPA
COPI coat complex subunit alpha
IAGP ISS EXP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease OMIM:616414 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27048656 PMID:27577878 PMID:28492532 PMID:29137621 PMID:30804679 PMID:31905480 PMID:32040879 PMID:32778887 PMID:35753512 More...
NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
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CRP
C-reactive protein
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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DCAF8
DDB1 and CUL4 associated factor 8
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,215,720...160,262,549
Ensembl chr 1:160,215,715...160,262,549
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DCAF8-DT
DCAF8 divergent transcript
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,261,749...160,262,778
Ensembl chr 1:160,261,731...160,263,328
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DDR2
discoidin domain receptor tyrosine kinase 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DEDD
death effector domain containing
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,120,974...161,132,667
Ensembl chr 1:161,120,974...161,132,688
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DUSP12
dual specificity phosphatase 12
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,749,786...161,757,238
Ensembl chr 1:161,749,758...161,757,238
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DUSP23
dual specificity phosphatase 23
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,780,962...159,782,543
Ensembl chr 1:159,780,932...159,782,543
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F11R
F11 receptor
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,995,211...161,021,152
Ensembl chr 1:160,995,211...161,021,175
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FCER1A
Fc epsilon receptor Ia
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,283,575...159,308,202
Ensembl chr 1:159,289,714...159,308,224
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FCER1G
Fc epsilon receptor Ig
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,215,295...161,219,245
Ensembl chr 1:161,215,234...161,220,699
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FCGR2A
Fc gamma receptor IIa
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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FCGR2B
Fc gamma receptor IIb
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
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FCGR2C
Fc gamma receptor IIc (gene/pseudogene)
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
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FCGR3A
Fc gamma receptor IIIa
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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FCGR3B
Fc gamma receptor IIIb
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
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FCRL6
Fc receptor like 6
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,800,512...159,816,257
Ensembl chr 1:159,800,511...159,816,257
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FCRLA
Fc receptor like A
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,707,229...161,714,352
Ensembl chr 1:161,706,972...161,714,352
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FCRLB
Fc receptor like B
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,721,544...161,728,143
Ensembl chr 1:161,721,544...161,728,143
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HSPA6
heat shock protein family A (Hsp70) member 6
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,524,540...161,526,894
Ensembl chr 1:161,524,540...161,526,894
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IFI16
interferon gamma inducible protein 16
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,999,976...159,055,151
Ensembl chr 1:158,999,968...159,055,155
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IGSF8
immunoglobulin superfamily member 8
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,091,339...160,099,468
Ensembl chr 1:160,091,340...160,098,943
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IGSF9
immunoglobulin superfamily member 9
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,927,041...159,945,613
Ensembl chr 1:159,927,039...159,945,613
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ITLN1
intelectin 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,876,540...160,885,180
Ensembl chr 1:160,876,540...160,885,180
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ITLN2
intelectin 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,945,025...160,954,809
Ensembl chr 1:160,945,025...160,954,809
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KCNJ10
potassium inwardly rectifying channel subfamily J member 10
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
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KCNJ9
potassium inwardly rectifying channel subfamily J member 9
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,081,538...160,090,563
Ensembl chr 1:160,081,538...160,090,563
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KLHDC9
kelch domain containing 9
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,098,361...161,100,346
Ensembl chr 1:161,098,361...161,100,346
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LY9
lymphocyte antigen 9
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,796,174...160,828,255
Ensembl chr 1:160,796,074...160,828,261
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MNDA
myeloid cell nuclear differentiation antigen
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,831,351...158,849,502
Ensembl chr 1:158,831,351...158,849,506
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MPZ
myelin protein zero
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
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NCSTN
nicastrin
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
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NDUFS2
NADH:ubiquinone oxidoreductase core subunit S2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723
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NECTIN4
nectin cell adhesion molecule 4
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,070,998...161,089,558
Ensembl chr 1:161,070,998...161,089,558
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NHLH1
nescient helix-loop-helix 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,367,071...160,372,846
Ensembl chr 1:160,367,071...160,372,846
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NIT1
nitrilase 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,118,105...161,125,445
Ensembl chr 1:161,118,086...161,125,445
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NLRP12
NLR family pyrin domain containing 12
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403
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NOS1AP
nitric oxide synthase 1 adaptor protein
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
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NR1I3
nuclear receptor subfamily 1 group I member 3
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,229,669...161,238,203
Ensembl chr 1:161,229,666...161,238,244
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OLFML2B
olfactomedin like 2B
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,983,192...162,023,869
Ensembl chr 1:161,983,192...162,023,869
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OR10J1
olfactory receptor family 10 subfamily J member 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,397,465...159,440,967
Ensembl chr 1:159,437,845...159,443,078
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OR10J3
olfactory receptor family 10 subfamily J member 3
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,313,570...159,314,759
Ensembl chr 1:159,313,720...159,314,659
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OR10J5
olfactory receptor family 10 subfamily J member 5
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,535,078...159,536,007
Ensembl chr 1:159,535,078...159,536,007
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OR6K2
olfactory receptor family 6 subfamily K member 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,699,678...158,700,652
Ensembl chr 1:158,699,678...158,700,652
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OR6K3
olfactory receptor family 6 subfamily K member 3
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,716,327...158,725,120
Ensembl chr 1:158,716,327...158,720,720
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OR6K6
olfactory receptor family 6 subfamily K member 6
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,754,720...158,755,891
Ensembl chr 1:158,754,720...158,755,891
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OR6N1
olfactory receptor family 6 subfamily N member 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,764,236...158,840,396
Ensembl chr 1:158,747,814...158,772,195
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OR6N2
olfactory receptor family 6 subfamily N member 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,774,222...158,781,204
Ensembl chr 1:158,774,222...158,781,204
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PCP4L1
Purkinje cell protein 4 like 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,258,745...161,285,450
Ensembl chr 1:161,258,745...161,285,450
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PEA15
proliferation and apoptosis adaptor protein 15
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,205,384...160,215,372
Ensembl chr 1:160,205,380...160,215,376
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PEX19
peroxisomal biogenesis factor 19
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
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PFDN2
prefoldin subunit 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,100,561...161,118,037
Ensembl chr 1:161,100,556...161,118,055
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PIGM
phosphatidylinositol glycan anchor biosynthesis class M
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990
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PPOX
protoporphyrinogen oxidase
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
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PYHIN1
pyrin and HIN domain family member 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,931,552...158,990,870
Ensembl chr 1:158,930,796...158,977,059
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SDHC
succinate dehydrogenase complex subunit C
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SH2D1B
SH2 domain containing 1B
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:162,395,268...162,412,136
Ensembl chr 1:162,395,268...162,412,138
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SLAMF1
signaling lymphocytic activation molecule family member 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,608,106...160,647,044
Ensembl chr 1:160,608,106...160,647,044
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SLAMF6
SLAM family member 6
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,485,036...160,523,255
Ensembl chr 1:160,485,030...160,523,262
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SLAMF7
SLAM family member 7
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,739,057...160,754,821
Ensembl chr 1:160,739,057...160,754,821
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SLAMF8
SLAM family member 8
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,826,873...159,837,492
Ensembl chr 1:159,826,811...159,837,492
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SLAMF9
SLAM family member 9
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,951,492...159,983,984
Ensembl chr 1:159,951,492...159,954,237
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SNHG28
small nucleolar RNA host gene 28
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,834,478...159,855,037
Ensembl chr 1:159,834,480...159,855,071
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SPATA46
spermatogenesis associated 46
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:162,373,203...162,376,854
Ensembl chr 1:162,373,203...162,376,854
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SPTA1
spectrin alpha, erythrocytic 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
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TAGLN2
transgelin 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,918,111...159,925,507
Ensembl chr 1:159,918,107...159,925,507
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TOMM40L
translocase of outer mitochondrial membrane 40 like
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,226,060...161,230,746
Ensembl chr 1:161,225,939...161,230,746
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TSTD1
thiosulfate sulfurtransferase like domain containing 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,037,631...161,038,964
Ensembl chr 1:161,037,631...161,038,977
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UAP1
UDP-N-acetylglucosamine pyrophosphorylase 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:162,561,531...162,601,240
Ensembl chr 1:162,561,722...162,601,240
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UFC1
ubiquitin-fold modifier conjugating enzyme 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856
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UHMK1
U2AF homology motif kinase 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:162,497,174...162,529,631
Ensembl chr 1:162,497,251...162,529,631
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USF1
upstream transcription factor 1
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,039,251...161,045,977
Ensembl chr 1:161,039,251...161,045,977
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USP21
ubiquitin specific peptidase 21
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:161,159,500...161,165,723
Ensembl chr 1:161,159,450...161,165,723
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VANGL2
VANGL planar cell polarity protein 2
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670
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VSIG8
V-set and immunoglobulin domain containing 8
IAGP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar
PMID:28492532
NCBI chr 1:159,854,316...159,862,657
Ensembl chr 1:159,854,316...159,862,657
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ACE
angiotensin I converting enzyme
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10194187
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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BTNL2
butyrophilin like 2
susceptibility
IAGP EXP
DNA:SNP: :rs3117099(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17927685 PMID:17927685
RGD:9685029
NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
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CCR5
C-C motif chemokine receptor 5
disease_progression
IAGP
DNA:polymorphisms:5' utr:multiple (human)
RGD
PMID:20075058
RGD:4892065
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CD28
CD28 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12952926
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
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GCLM
glutamate-cysteine ligase modifier subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16766924
NCBI chr 1:93,885,199...93,909,430
Ensembl chr 1:93,885,199...93,909,456
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HLA-DPB1
major histocompatibility complex, class II, DP beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8105536 PMID:11551429 PMID:14662898 PMID:15273960 PMID:17927685 PMID:17956852 More...
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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HLA-DPB2
major histocompatibility complex, class II, DP beta 2 (pseudogene)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16272364
NCBI chr 6:33,112,516...33,129,113
Ensembl chr 6:33,112,516...33,129,084
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16272364 PMID:17927685
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HMOX1
heme oxygenase 1
IEP
protein:increased activity:sputum
RGD
PMID:19453654
RGD:4145349
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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IL2RA
interleukin 2 receptor subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8977230
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8428540
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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TGFB1
transforming growth factor beta 1
severity
IAGP EXP
DNA:polymorphisms: :-509C>T (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15750822 PMID:17785866 PMID:17785866
RGD:4145294
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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MUC1
mucin 1, cell surface associated
IEP
protein:increased expression:serum
RGD
PMID:15881280
RGD:5131172
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
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ACE
angiotensin I converting enzyme
ISO
RGD
PMID:17097496
RGD:4140933
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ADORA2A
adenosine A2a receptor
ISO
RGD
PMID:19766783
RGD:4890362
NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
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CCL17
C-C motif chemokine ligand 17
IEP
RGD
PMID:18785972
RGD:4145604
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
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CCL2
C-C motif chemokine ligand 2
ISO
RGD
PMID:14611812
RGD:2307195
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL22
C-C motif chemokine ligand 22
IEP
RGD
PMID:20628341
RGD:4891471
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
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CCL5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:19840961 PMID:14611812
RGD:4889978 , RGD:2307195
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCL7
C-C motif chemokine ligand 7
ISO
protein:increased expression:bronchoalveolar Lavage fluid
RGD
PMID:22215510
RGD:6483763
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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CCR2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:trachea:
RGD
PMID:11518728
RGD:4145124
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CD86
CD86 molecule
ISO
RGD
PMID:11266944
RGD:2307206
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CSF2
colony stimulating factor 2
ISO
associated with Respiratory Aspiration;protein:increased expression:serum
RGD
PMID:18557728
RGD:2317286
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
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CXCL10
C-X-C motif chemokine ligand 10
ISO IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16709871 PMID:12097412 PMID:12097412
RGD:5135441 , RGD:5135451 , RGD:5135451
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL11
C-X-C motif chemokine ligand 11
ISO IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12097412 PMID:12097412
RGD:5135451 , RGD:5135451
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
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CXCL9
C-X-C motif chemokine ligand 9
ISO IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16709871 PMID:12097412 PMID:12097412
RGD:5135441 , RGD:5135451 , RGD:5135451
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:16709871 PMID:12097412
RGD:5135441 , RGD:5135451
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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EDN1
endothelin 1
IMP
human gene in a rat model
RGD
PMID:9595474
RGD:8662402
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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FOXP3
forkhead box P3
ISO
mRNA:increased expression:lung
RGD
PMID:19840961
RGD:4889978
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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GZMB
granzyme B
IEP
RGD
PMID:19737140
RGD:5135518
NCBI chr14:24,630,954...24,634,190
Ensembl chr14:24,630,954...24,634,267
G
HMOX1
heme oxygenase 1
ISO
RGD
PMID:12973103
RGD:4145412
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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IFNG
interferon gamma
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:16137903
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL13
interleukin 13
ISO IEP
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17182591 PMID:17182591
RGD:4146242 , RGD:4146242
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL13RA1
interleukin 13 receptor subunit alpha 1
ISO
RGD
PMID:17182591
RGD:4146242
NCBI chr X:118,727,606...118,805,228
Ensembl chr X:118,727,133...118,794,535
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IL13RA2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:17182591
RGD:4146242
NCBI chr X:115,003,982...115,017,616
Ensembl chr X:115,003,975...115,019,977
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IL17A
interleukin 17A
ISO
mRNA:increased expression:trachea
RGD
PMID:20393404
RGD:4143277
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1RN
interleukin 1 receptor antagonist
IEP
protein:increased expression:lung
RGD
PMID:11889437
RGD:4143176
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL4
interleukin 4
ISO
protein:increased expression:serum
RGD
PMID:18557728
RGD:2317286
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL6
interleukin 6
ISO
RGD
PMID:20393404
RGD:4143277
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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MBL2
mannose binding lectin 2
resistance
IAGP
DNA:transversion:5' utr:-290C>G rs7096206 (human)
RGD
PMID:19104434
RGD:4889456
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MMP9
matrix metallopeptidase 9
IEP
protein:increased expression, increased activity:bronchoalveolar lavage fluid
RGD
PMID:20417130
RGD:5130759
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MUC1
mucin 1, cell surface associated
IEP
protein:increased expression:serum
RGD
PMID:16969297
RGD:5131273
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
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NOD2
nucleotide binding oligomerization domain containing 2
IAGP
RGD
PMID:18158963
RGD:5131450
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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NOS2
nitric oxide synthase 2
IEP
associated with lung transplantation; protein:increased expression:lung
RGD
PMID:11112135
RGD:4892082
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOS3
nitric oxide synthase 3
ISO
protein:increased expression:lung
RGD
PMID:15136885
RGD:4892068
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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SCGB1A1
secretoglobin family 1A member 1
IEP
associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage
RGD
PMID:11981419
RGD:5147386
NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
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SFTPD
surfactant protein D
IEP
RGD
PMID:18347569
RGD:4143500
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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TLR9
toll like receptor 9
IAGP
DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human)
RGD
PMID:20227302
RGD:5130722
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNFRSF1A
TNF receptor superfamily member 1A
IEP
protein:increased expression:lung, macrophage (human)
RGD
PMID:21144722
RGD:5131112
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
IEP
protein:increased expression:lung, lymphocyte (human)
RGD
PMID:21144722
RGD:5131112
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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SFTPC
surfactant protein C
ISS
OMIM:263000
MouseDO
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis
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 chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ACE
angiotensin I converting enzyme
IEP
protein:increased expression:plasma
RGD
PMID:19218674
RGD:4140920
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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CCL5
C-C motif chemokine ligand 5
ISO IEP
protein:increased secretion:lung, secretion (mouse) mRNA:increased expression:lung:bronchoalveolar lavage cell (human)
RGD
PMID:16387809 PMID:10384061
RGD:4891434 , RGD:4891436
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCL7
C-C motif chemokine ligand 7
ISO
RGD
PMID:20027288
RGD:5130978
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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CCR3
C-C motif chemokine receptor 3
IEP
RGD
PMID:19842835
RGD:4145620
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
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CD86
CD86 molecule
ISO
associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse)
RGD
PMID:19282343
RGD:4892294
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CXCL10
C-X-C motif chemokine ligand 10
ISO IEP
mRNA:increased expression:alveolar macrophage
RGD
PMID:14991597 PMID:15725351
RGD:5135448 , RGD:5135490
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL11
C-X-C motif chemokine ligand 11
ISO
RGD
PMID:14991597
RGD:5135448
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
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CXCL9
C-X-C motif chemokine ligand 9
ISO IEP
mRNA:increased expression:alveolar macrophage
RGD
PMID:14991597 PMID:15725351
RGD:5135448 , RGD:5135490
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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CXCR3
C-X-C motif chemokine receptor 3
ISO IEP
RGD
PMID:14991597 PMID:19842835
RGD:5135448 , RGD:4145620
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
IEP
mRNA:decreased expression:leukocyte
RGD
PMID:20514434
RGD:4892076
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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IL13
interleukin 13
ISO
mRNA:increased expression:lung
RGD
PMID:9916735 PMID:20861649
RGD:4145650 , RGD:5128548
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL17A
interleukin 17A
ISO
associated with Silicosis
RGD
PMID:20421647 PMID:19151189
RGD:4888525 , RGD:4889106
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL17RA
interleukin 17 receptor A
ISO
RGD
PMID:19414809
RGD:5144217
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
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IL1A
interleukin 1 alpha
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:10882225
RGD:4142832
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1B
interleukin 1 beta
disease_progression
IEP ISO
protein:increased expression:serum (human)
RGD
PMID:19556641 PMID:1519663
RGD:4142842 , RGD:7401229
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL5
interleukin 5
ISO
protein:increased expression:lung,respiratory system fluid/secretion
RGD
PMID:19151189
RGD:4889106
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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NOS2
nitric oxide synthase 2
IEP
protein:increased expression:lung
RGD
PMID:11789718
RGD:4891449
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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SFTPA1
surfactant protein A1
IEP
protein:decreased expression:lung
RGD
PMID:10543276
RGD:4143437
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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TAP1
transporter 1, ATP binding cassette subfamily B member
susceptibility
IAGP
DNA:polymorphisms:cds:P. D637G, P661P (human)
RGD
PMID:18342853
RGD:5147840
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
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TLR6
toll like receptor 6
ISO
RGD
PMID:20070409
RGD:4889532
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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TNC
tenascin C
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9780295
RGD:4889595
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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TNF
tumor necrosis factor
IDA ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:15653992 PMID:10882225
RGD:4143466 , RGD:4142832
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
IEP
protein:increased expression:alveolar macrophage (human)
RGD
PMID:15929959
RGD:5131148
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
IEP
protein:increased expression:alveolar macrophage (human)
RGD
PMID:15929959
RGD:5131148
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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VEGFA
vascular endothelial growth factor A
IEP
RGD
PMID:15764076
RGD:5684419
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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IL12B
interleukin 12B
ISO
RGD
PMID:12084045
RGD:4145430
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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TNF
tumor necrosis factor
IDA IEP IAGP
protein:increased activity:serum protein:increased secretion:macrophage DNA:polymorphism:promoter
RGD
PMID:11179110 PMID:8466130 PMID:11179110
RGD:4143374 , RGD:4143375 , RGD:4143374
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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CCR3
C-C motif chemokine receptor 3
IEP
protein:increased expression:nasal cavity epithelium protein:increased expression:blood, T cell
RGD
PMID:11529927 PMID:12716450
RGD:4145634 , RGD:6893409
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
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CCR5
C-C motif chemokine receptor 5
IAGP
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:12858455
RGD:4892114
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CD36
CD36 molecule (CD36 blood group)
IEP
RGD
PMID:21412229
RGD:6893495
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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CD40LG
CD40 ligand
IEP
RGD
PMID:21411717
RGD:5490596
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IAGP
DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human)
RGD
PMID:12022356
RGD:7204724
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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FCAR
Fc alpha receptor
IAGP
RGD
PMID:22147912
RGD:7242064
NCBI chr19:54,874,235...54,891,420
Ensembl chr19:54,874,235...54,891,420
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FCGR3B
Fc gamma receptor IIIb
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16482158
NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
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IGF1
insulin like growth factor 1
IEP
protein:increased expression:nasal cavity mucosa, blood vessel:
RGD
PMID:2772560
RGD:8548880
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IL10
interleukin 10
IAGP
RGD
PMID:11838849
RGD:1580480
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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PRTN3
proteinase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25288799
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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THBD
thrombomodulin
IEP
protein:increased expression:serum
RGD
PMID:20156770
RGD:5684985
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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VTN
vitronectin
IDA
RGD
PMID:12126637
RGD:1580817
NCBI chr17:28,367,284...28,370,307
Ensembl chr17:28,367,284...28,373,091
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FAM111B
FAM111 trypsin like peptidase B
IAGP
ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
OMIM ClinVar
PMID:17034542 PMID:24268661 PMID:25741868 PMID:26471370 PMID:26495788 PMID:27406236 PMID:27748098 More...
NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412
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CXCL5
C-X-C motif chemokine ligand 5
IEP
associated with Scleroderma, Diffuse protein:increased expression:serum
RGD
PMID:18432520 PMID:16085216
RGD:5135258 , RGD:5135260
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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ICAM1
intercellular adhesion molecule 1
IEP
protein:increased expression:lung, alveolar macrophage (human)
RGD
PMID:19218648
RGD:4145518
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IL6
interleukin 6
ISO
protein:increased expression:bronchoalveolar lavage (rat)
RGD
PMID:10988147
RGD:11062092
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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KEAP1
kelch like ECH associated protein 1
IEP
protein:increased expression:hyperplastic lung epithelium, alveolus (human)
RGD
PMID:20718723
RGD:6893300
NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
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MTOR
mechanistic target of rapamycin kinase
IMP
RGD
PMID:21444868
RGD:7245946
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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SCGB1A1
secretoglobin family 1A member 1
IEP
protein:increased expression:serum
RGD
PMID:15467329
RGD:5144148
NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
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ARHGAP9
Rho GTPase activating protein 9
IAGP
ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND
ClinVar
PMID:9536098 PMID:17576681 PMID:24482476 PMID:28492532 PMID:35303589
NCBI chr12:57,472,269...57,488,824
Ensembl chr12:57,472,264...57,488,814
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DCTN2
dynactin subunit 2
IAGP
ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar
PMID:28492532
NCBI chr12:57,530,051...57,547,192
Ensembl chr12:57,529,633...57,547,224
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DDIT3
DNA damage inducible transcript 3
IAGP
ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar
PMID:28492532
NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
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FARSB
phenylalanyl-tRNA synthetase subunit beta
IAGP
ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar
PMID:29573043
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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KIF5A
kinesin family member 5A
IAGP
ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar
PMID:28492532
NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
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MARS1
methionyl-tRNA synthetase 1
IAGP EXP
ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23729695 PMID:24103465 PMID:24482476 PMID:25640679 PMID:25741868 PMID:25913036 PMID:28148924 PMID:28492532 PMID:28708278 PMID:29582526 PMID:29655802 PMID:29775242 PMID:30723866 PMID:32376792 PMID:33909043 PMID:34169998 PMID:34298581 PMID:34496286 PMID:34585293 PMID:34813128 PMID:35303589 PMID:35723632 PMID:36413997 More...
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
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MBD6
methyl-CpG binding domain protein 6
IAGP
ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar
PMID:28492532
NCBI chr12:57,520,715...57,531,545
Ensembl chr12:57,520,710...57,530,148
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MIR616
microRNA 616
IAGP
ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar
PMID:28492532
NCBI chr12:57,519,163...57,519,259
Ensembl chr12:57,519,163...57,519,259
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MIR6758
microRNA 6758
IAGP
ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar
PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr12:57,512,688...57,512,750
Ensembl chr12:57,512,688...57,512,750
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SFTPA1
surfactant protein A1
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 1
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:26792177 PMID:30854216 PMID:31601679 PMID:32855221 More...
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:15976379 PMID:17597647 PMID:18024538 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:28642621 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32532878 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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AHRR
aryl hydrocarbon receptor repressor
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:321,714...438,285
Ensembl chr 5:321,714...438,291
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AKT1
AKT serine/threonine kinase 1
IEP
mRNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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APOA1
apolipoprotein A1
IEP
protein: decreased expression: respiratory system fluid/secretion
RGD
PMID:20463180
RGD:5508222
NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
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ATP11A
ATPase phospholipid transporting 11A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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BMP1
bone morphogenetic protein 1
IAGP
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
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BRD4
bromodomain containing 4
IDA
RGD
PMID:23759512
RGD:9586353
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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BRD9
bromodomain containing 9
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:863,741...892,801
Ensembl chr 5:850,291...892,801
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CCL13
C-C motif chemokine ligand 13
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28434932
NCBI chr17:34,356,480...34,358,610
Ensembl chr17:34,356,480...34,358,610
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CEP72
centrosomal protein 72
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:612,340...676,616
Ensembl chr 5:612,340...667,168
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CFLAR
CASP8 and FADD like apoptosis regulator
IEP
mRNA,protein:increased expression:lung myofibroblast:
RGD
PMID:22582174
RGD:11341695
NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
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CTC1
CST telomere replication complex component 1
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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CXCL5
C-X-C motif chemokine ligand 5
IAGP IEP
DNA:polymorphism:promoter:-156G>C (human) protein:increased expression:lung, macrophage, type II pneumocyte
RGD
PMID:20137269 PMID:11751193
RGD:5135241 , RGD:5135250
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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DDR1
discoidin domain receptor tyrosine kinase 1
treatment
IEP ISO
mRNA:increased expression:lung (human)
RGD
PMID:30119248 PMID:30119248
RGD:151347411 , RGD:151347411
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
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DPP9
dipeptidyl peptidase 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DSP
desmoplakin
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Interstitial lung disease 2
CTD ClinVar
PMID:23583980
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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DTNBP1
dystrobrevin binding protein 1
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr 6:15,522,807...15,663,058
Ensembl chr 6:15,522,807...15,663,058
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EHMT2
euchromatic histone lysine methyltransferase 2
IDA
RGD
PMID:24652950
RGD:9589169
NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,698
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EP300
E1A binding protein p300
treatment
IEP ISO
mRNA:increased expression:lung (human)
RGD
PMID:30119248 PMID:30119248
RGD:151347411 , RGD:151347411
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ESR1
estrogen receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30165855
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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EXOC3
exocyst complex component 3
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:443,176...467,290
Ensembl chr 5:443,175...471,937
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EXOC3-AS1
EXOC3 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:441,835...443,160
Ensembl chr 5:441,498...443,160
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F3
coagulation factor III, tissue factor
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10946084
RGD:11060143
NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
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FAM13A
family with sequence similarity 13 member A
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Interstitial lung disease 2
CTD ClinVar
PMID:23583980
NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
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FAS
Fas cell surface death receptor
ISO
RGD
PMID:15148335
RGD:11049166
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
ISO
RGD
PMID:15148335
RGD:11049166
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FGFR2
fibroblast growth factor receptor 2
IEP
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FOSL2
FOS like 2, AP-1 transcription factor subunit
ISS
OMIM:178500
MouseDO
NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
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GPER1
G protein-coupled estrogen receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30165855
NCBI chr 7:1,087,118...1,093,810
Ensembl chr 7:1,082,208...1,093,815
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HIF1A
hypoxia inducible factor 1 subunit alpha
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:28434932
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
DNA:polymorphism (human)
RGD
PMID:21373184
RGD:5147566
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HPS4
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr22:26,443,109...26,483,863
Ensembl chr22:26,443,107...26,483,931
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IL1RL1
interleukin 1 receptor like 1
IEP
protein:increased expression:serum
RGD
PMID:14555548
RGD:5144236
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
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IL1RN
interleukin 1 receptor antagonist
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:16199547 PMID:19494218 PMID:21792839 PMID:22940634 PMID:26100510 PMID:28492532 More...
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL2RA
interleukin 2 receptor subunit alpha
IEP
RGD
PMID:21309737
RGD:5147438
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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LAMA3
laminin subunit alpha 3
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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LOC110806263
TERT 5' regulatory region
IAGP
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 PMID:19489057 PMID:20301779 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31268371 More...
NCBI chr 5:1,294,628...1,298,988
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LOC110806264
TERT enhancer in intron 2
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:28492532
NCBI chr 5:1,286,474...1,287,720
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LOC110806306
telomerase RNA component (TERC) promoter
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:17392301
NCBI chr 3:169,764,689...169,765,858
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LOC123493259
Sharpr-MPRA regulatory region 13256
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:28492532
NCBI chr 5:1,276,694...1,276,988
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LOC129999976
ATAC-STARR-seq lymphoblastoid silent region 18982
IAGP
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr 8:22,164,628...22,165,667
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MIR184
microRNA 184
IEP
RNA:decreased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871
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MIR31
microRNA 31
IEP
RNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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MMP1
matrix metallopeptidase 1
IEP IAGP
protein:increased expression:lung,bronchoalveolar lavage fluid: ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar RGD
PMID:18447576
RGD:4890373
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP19
matrix metallopeptidase 19
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr12:55,835,433...55,842,936
Ensembl chr12:55,835,433...55,842,966
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MMP3
matrix metallopeptidase 3
IEP EXP
mRNA, protein:increased expression:lung CTD Direct Evidence: therapeutic
CTD RGD
PMID:28434932 PMID:21871427
RGD:8694097
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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MUC1
mucin 1, cell surface associated
IEP
protein:increased expression:serum:
RGD
PMID:22963039
RGD:7244290
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD ClinVar OMIM
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 PMID:23695349 PMID:23940607 PMID:24033266 PMID:25741868 PMID:25926289 PMID:28492532 PMID:30345907 More...
NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
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MUC5B-AS1
MUC5B antisense RNA 1
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:24033266 PMID:25741868
NCBI chr11:1,242,261...1,249,676
Ensembl chr11:1,242,261...1,249,676
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NKD2
NKD inhibitor of WNT signaling pathway 2
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:1,008,802...1,038,943
Ensembl chr 5:1,008,802...1,038,943
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NKX2-1
NK2 homeobox 1
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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NKX2-1-AS1
NKX2-1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:25741868
NCBI chr14:36,519,278...36,523,016
Ensembl chr14:36,519,278...36,523,016
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NTRK2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:increased expression:lung
RGD
PMID:21330466
RGD:5684550
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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PARN
poly(A)-specific ribonuclease
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25848748
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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PARP1
poly(ADP-ribose) polymerase 1
IEP
mRNA,protein:increased expression, increased activity:fibroblast
RGD
PMID:23260200
RGD:10413908
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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PDCD6
programmed cell death 6
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:271,646...314,974
Ensembl chr 5:271,621...314,974
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PLAU
plasminogen activator, urokinase
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:18491991
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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PTGS2
prostaglandin-endoperoxide synthase 2
IAGP IEP IDA
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 chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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RTEL1
regulator of telomere elongation helicase 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD ClinVar
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 PMID:24033266 PMID:25047097 PMID:25099625 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26025130 PMID:28099038 PMID:28492532 PMID:29344583 PMID:36655009 PMID:37392813 More...
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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RTEL1-TNFRSF6B
RTEL1-TNFRSF6B readthrough (NMD candidate)
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 PMID:24033266 PMID:25047097 PMID:25099625 PMID:25607374 PMID:25620558 PMID:25741868 PMID:26025130 PMID:28099038 PMID:28492532 PMID:29344583 PMID:36655009 PMID:37392813 More...
NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
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RTKN2
rhotekin 2
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr10:62,183,900...62,268,844
Ensembl chr10:62,183,035...62,268,844
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SETD2
SET domain containing 2, histone lysine methyltransferase
exacerbates
IAGP
associated with lung squamous cell carcinoma; DNA:mutations:multiple (human)
RGD
PMID:33533494
RGD:150429642
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SFTA3
surfactant associated 3
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,288...36,513,829 Ensembl chr14:36,473,288...36,513,829
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SFTPA1
surfactant protein A1
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:13680361 PMID:24033266 PMID:25741868
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPA2
surfactant protein A2
IAGP EXP
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16292672 PMID:17580966 PMID:19100526 PMID:20466729 PMID:22853774 PMID:23056344 PMID:24033266 PMID:25553246 PMID:25741868 PMID:28492532 PMID:32855221 More...
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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SFTPC
surfactant protein C
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD ClinVar
PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 PMID:19443464 PMID:19910179 PMID:22308375 PMID:23025826 PMID:23775869 PMID:24033266 PMID:24081995 PMID:24347114 PMID:25657025 PMID:25741868 PMID:25782673 PMID:27362365 PMID:28492532 PMID:33526882 More...
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SLC12A7
solute carrier family 12 member 7
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063
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SLC6A18
solute carrier family 6 member 18
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189
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SLC6A19
solute carrier family 6 member 19
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
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SLC9A3
solute carrier family 9 member A3
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
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SMAD2
SMAD family member 2
IEP
mRNA:increased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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SMAD6
SMAD family member 6
IEP
mRNA:decreased expression:blood plasma (human)
RGD
PMID:31874165
RGD:152995482
NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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ST14
ST14 transmembrane serine protease matriptase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26599507
NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362
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STAT3
signal transducer and activator of transcription 3
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30481203 PMID:22684844
RGD:6892915
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STN1
STN1 subunit of CST complex
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583980
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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TERC
telomerase RNA component
IAGP EXP
ClinVar Annotator: match by term: Interstitial lung disease 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:17392301 PMID:17460043 PMID:23535734
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT
telomerase reverse transcriptase
IAGP EXP
DNA:deletion, missense mutations, splice-site mutations:multiple ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Interstitial lung disease 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:12629597 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 PMID:17576681 PMID:18302718 PMID:18460650 PMID:18635888 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:20022961 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:21436073 PMID:21520174 PMID:22364217 PMID:22424236 PMID:22853774 PMID:22863003 PMID:23535734 PMID:23538340 PMID:23583980 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24833766 PMID:25271372 PMID:25365545 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26365799 PMID:27192671 PMID:27540018 PMID:27848944 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28495683 PMID:28677271 PMID:28813500 PMID:29036293 PMID:29483670 PMID:30203795 PMID:30426156 PMID:30523342 PMID:31268371 PMID:34019641 PMID:34890115 PMID:35776903 PMID:17392301 More...
RGD:11038666
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TFPI
tissue factor pathway inhibitor
severity
IEP
protein:increased expression:Bronchoalveolar lavage,epithelial cell:
RGD
PMID:10946084
RGD:11060143
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
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THBD
thrombomodulin
severity
IEP
RGD
PMID:20418386
RGD:5685036
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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TNF
tumor necrosis factor
EXP ISS
CTD Direct Evidence: marker/mechanism OMIM:178500
CTD MouseDO
PMID:8473757
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TOLLIP
toll interacting protein
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
NCBI chr11:1,274,371...1,309,632
Ensembl chr11:1,274,371...1,309,654
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TPPP
tubulin polymerization promoting protein
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:659,862...700,727
Ensembl chr 5:659,862...693,352
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TRIP13
thyroid hormone receptor interactor 13
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
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WNT5A
Wnt family member 5A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28726637
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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ZDHHC11
zinc finger DHHC-type containing 11
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:795,605...860,563
Ensembl chr 5:795,605...858,973
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ZDHHC11B
zinc finger DHHC-type containing 11B
IAGP
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
PMID:12629597 PMID:28492532
NCBI chr 5:710,355...784,729
Ensembl chr 5:710,355...784,729
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ITGA3
integrin subunit alpha 3
IAGP EXP
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 PMID:28492532 PMID:29127259 More...
NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISS
OMIM:246400 | OMIM:604856
MouseDO
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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ACAN
aggrecan
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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ALG11
ALG11 alpha-1,2-mannosyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
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ARHGAP22
Rho GTPase activating protein 22
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr10:48,429,831...48,656,265
Ensembl chr10:48,446,036...48,656,265
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ASAH1
N-acylsphingosine amidohydrolase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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ATR
ATR serine/threonine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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CA1
carbonic anhydrase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014
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CA3
carbonic anhydrase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr 8:85,438,859...85,449,040
Ensembl chr 8:85,373,436...85,449,040
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CAT
catalase
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19273541
RGD:5130756
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CCDC180
coiled-coil domain containing 180
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 9:97,307,337...97,378,751
Ensembl chr 9:97,307,304...97,378,751
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CDH23
cadherin related 23
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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ENOPH1
enolase-phosphatase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 4:82,430,590...82,461,177
Ensembl chr 4:82,430,590...82,461,177
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EPHB4
EPH receptor B4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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FBXL9P
F-box and leucine rich repeat protein, pseudogene
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr16:67,207,139...67,227,025
Ensembl chr16:67,207,139...67,227,048 Ensembl chr16:67,207,139...67,227,048
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FCHO1
FCH and mu domain containing endocytic adaptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
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H3-4
H3.4 histone, cluster member
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr 1:228,424,845...228,425,360
Ensembl chr 1:228,424,845...228,425,360
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human)
RGD
PMID:16188098
RGD:7421557
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HS3ST6
heparan sulfate-glucosamine 3-sulfotransferase 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415
G
IL27RA
interleukin 27 receptor subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr19:14,031,762...14,053,218
Ensembl chr19:14,031,762...14,053,218
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IL4
interleukin 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21857939
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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MDM4
MDM4 regulator of p53
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120
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NUP35
nucleoporin 35
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 2:183,117,514...183,161,680
Ensembl chr 2:183,117,513...183,161,680
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OVGP1
oviductal glycoprotein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr 1:111,414,319...111,427,735
Ensembl chr 1:111,414,319...111,427,735
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PRXL2B
peroxiredoxin like 2B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469
G
PSMB9
proteasome 20S subunit beta 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
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PTPRZ1
protein tyrosine phosphatase receptor type Z1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036
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SCD5
stearoyl-CoA desaturase 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 4:82,629,539...82,798,796
Ensembl chr 4:82,629,539...82,798,796
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SPNS1
SPNS lysolipid transporter 1, lysophospholipid
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr16:28,974,778...28,984,765
Ensembl chr16:28,974,221...28,984,548
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TAP1
transporter 1, ATP binding cassette subfamily B member
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
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TAP2
transporter 2, ATP binding cassette subfamily B member
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506645
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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TICAM1
TIR domain containing adaptor molecule 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
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TMPRSS3
transmembrane serine protease 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25445010
NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091
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ABCA3
ATP binding cassette subfamily A member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26780485
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ACE
angiotensin I converting enzyme
ISO EXP
associated with Lung Injury;protein:decreased expression:lung CTD Direct Evidence: therapeutic associated with Radiation Pneumonitis associated with Hypertension
CTD RGD
PMID:33007385 PMID:20581171 PMID:17506716 PMID:17506718 PMID:20651228
RGD:4140483 , RGD:4140925 , RGD:4140923 , RGD:4140478
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACE2
angiotensin converting enzyme 2
ISO EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:27550926 PMID:33007385 PMID:20581171
RGD:4140483
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
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ACTA2
actin alpha 2, smooth muscle
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639579
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
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ADIPOQ
adiponectin, C1Q and collagen domain containing
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:25945502
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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AGER
advanced glycosylation end-product specific receptor
IEP ISO
mRNA:decreased expression:lung (human) mRNA, protein:decreased expression:lung
RGD
PMID:22669512 PMID:24226635
RGD:7245533 , RGD:8695997
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AGT
angiotensinogen
treatment
ISO EXP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:28960804 PMID:31181250 PMID:24168260
RGD:11039408
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR1
angiotensin II receptor type 1
ISO
RGD
PMID:18500976
RGD:5147454
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:18500976
RGD:5147454
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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ALOX5
arachidonate 5-lipoxygenase
IEP
protein:altered localization:alveolar macrophage, nuclear membrane
RGD
PMID:8621765
RGD:4890430
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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ANXA1
annexin A1
ISO
protein:decreased expression:lung
RGD
PMID:9269316
RGD:2306948
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
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AP3B1
adaptor related protein complex 3 subunit beta 1
IAGP
RGD
PMID:12125811
RGD:1578409
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
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APOA1
apolipoprotein A1
ISO
protein:decreased expression: respiratory system fluid/secretion
RGD
PMID:20463180
RGD:5508222
NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
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AREG
amphiregulin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26817844
NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
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B3GAT1
beta-1,3-glucuronyltransferase 1
ISO
protein:increased expression:lung
RGD
PMID:24127863
RGD:14390076
NCBI chr11:134,378,504...134,412,242
Ensembl chr11:134,378,504...134,412,242
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BAD
BCL2 associated agonist of cell death
ISO
RGD
PMID:18198484
RGD:2292680
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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BDKRB1
bradykinin receptor B1
IDA
RGD
PMID:20451601
RGD:5129229
NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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BDNF
brain derived neurotrophic factor
IEP
protein:increased expression:sputum
RGD
PMID:12917229
RGD:4891121
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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BMP7
bone morphogenetic protein 7
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:17975199
NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641
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BRD4
bromodomain containing 4
treatment
ISO
RGD
PMID:23759512
RGD:9586353
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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CALCA
calcitonin related polypeptide alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17365031
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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CALR
calreticulin
ISO
protein:increased expression:lung
RGD
PMID:18563736
RGD:2326172
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CAT
catalase
IEP EXP
mRNA, protein:decreased expression:lung CTD Direct Evidence: therapeutic
CTD RGD
PMID:19684199 PMID:21190578
RGD:5130199
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CAV1
caveolin 1
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36053221 PMID:18759267
RGD:8661773
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCL11
C-C motif chemokine ligand 11
IEP EXP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16314464 PMID:17620002 PMID:17620002 PMID:16314464
RGD:4145458 , RGD:4145395
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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CCL17
C-C motif chemokine ligand 17
ISO IEP
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15993846 PMID:19715610
RGD:2306304 , RGD:4145488
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
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CCL19
C-C motif chemokine ligand 19
IEP
mRNA:increased expression:lung
RGD
PMID:17717200
RGD:5130910
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
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CCL2
C-C motif chemokine ligand 2
ISO EXP
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 chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL21
C-C motif chemokine ligand 21
IEP
mRNA:increased expression:lung
RGD
PMID:17717200
RGD:5130910
NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136
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CCL22
C-C motif chemokine ligand 22
ISO IEP
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15993846 PMID:19715610
RGD:2306304 , RGD:4145488
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
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CCL3
C-C motif chemokine ligand 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16324872 PMID:17720292
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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CCL4
C-C motif chemokine ligand 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17720292
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCL5
C-C motif chemokine ligand 5
ISO EXP
protein:increased expression:lung (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17620002 PMID:20833968
RGD:4145112
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCN2
cellular communication network factor 2
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844 PMID:19154443
RGD:2314537
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CCR2
C-C motif chemokine receptor 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14609568 PMID:15743780
RGD:4145065
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CCR3
C-C motif chemokine receptor 3
ISO EXP
associated with Lung Injury CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16314464 PMID:16314464
RGD:4145395
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
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CCR4
C-C motif chemokine receptor 4
ISO
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,956,349
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CCR5
C-C motif chemokine receptor 5
ISO IEP
mRNA:increased expression:lung (mouse) protein:decreased expression:lung, lymphocyte (human)
RGD
PMID:19762220 PMID:15802346
RGD:4145622 , RGD:4892101
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CCR8
C-C motif chemokine receptor 8
ISO
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr 3:39,329,709...39,333,680
Ensembl chr 3:39,329,709...39,333,680
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CD28
CD28 molecule
ISO
RGD
PMID:20395561
RGD:4892281
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
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CD36
CD36 molecule (CD36 blood group)
severity
ISO
associated with Silicosis
RGD
PMID:19439069 PMID:20056742
RGD:2307220 , RGD:6893557
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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CD86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:20395561
RGD:4892281
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CDH1
cadherin 1
IEP ISO
RGD
PMID:20495078 PMID:16924102
RGD:5132892 , RGD:5132890
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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CEBPA
CCAAT enhancer binding protein alpha
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:29078374
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
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CEBPB
CCAAT enhancer binding protein beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17177178
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
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CFD
complement factor D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22832039
NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
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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 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
G
CHI3L1
chitinase 3 like 1
severity
IEP
protein:increased secretion:serum, lung (human)
RGD
PMID:20888745
RGD:4892653
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
G
CHRM3
cholinergic receptor muscarinic 3
IMP
RGD
PMID:18480105
RGD:5133440
NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
G
CMA1
chymase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15297733
NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
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COL1A1
collagen type I alpha 1 chain
treatment
ISO
associated with Middle East respiratory syndrome;
RGD
PMID:7511187 PMID:31838832 PMID:17579094
RGD:7257543 , RGD:30309204 , RGD:11041177
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL1A2
collagen type I alpha 2 chain
ISO
RGD
PMID:7511187
RGD:7257543
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
G
COL3A1
collagen type III alpha 1 chain
disease_progression
EXP ISO
CTD Direct Evidence: marker/mechanism associated with Middle East respiratory syndrome;
CTD RGD
PMID:26817844 PMID:31838832
RGD:30309204
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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CSF2
colony stimulating factor 2
ISO EXP
mRNA:increased expression:lung: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17894541 PMID:9881949
RGD:10449530
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
G
CSF3
colony stimulating factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17894541
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CXCL2
C-X-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16324872
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCL8
C-X-C motif chemokine ligand 8
treatment
EXP IMP
CTD Direct Evidence: marker/mechanism human recombinant protein in a mouse model
CTD RGD
PMID:17266442 PMID:17894541 PMID:28011398
RGD:150520199
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:18836137
RGD:5134989
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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CXCR3
C-X-C motif chemokine receptor 3
ISO
associated with Lung Injury
RGD
PMID:15254596
RGD:5135446
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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CYSLTR1
cysteinyl leukotriene receptor 1
ISO
associated with Pneumonia mRNA:increased expression:lung
RGD
PMID:14970333 PMID:20959046
RGD:4847792 , RGD:4781441
NCBI chr X:78,271,468...78,327,611
Ensembl chr X:78,271,468...78,327,691
G
CYSLTR2
cysteinyl leukotriene receptor 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15328359 PMID:20497024 PMID:15328359
RGD:4781445 , RGD:5143997
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
G
DEFB1
defensin beta 1
IEP
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
G
DEFB4A
defensin beta 4A
IEP
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 Ensembl chr 8:7,894,677...7,896,716
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DKC1
dyskerin pseudouridine synthase 1
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DNM1L
dynamin 1 like
ISO IEP
mRNA,protein:increased expression:lung,mitochondrion
RGD
PMID:25284615 PMID:25284615
RGD:35673291 , RGD:35673291
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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DSP
desmoplakin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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EDN1
endothelin 1
ISO EXP IEP
protein:increased expression:lung, airway epithelium, leukocyte (rat) CTD Direct Evidence: marker/mechanism Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human) associated with Scleroderma, Systemic; protein:increased expression:lung (human)
CTD RGD
PMID:17235729 PMID:9279246 PMID:8099638 PMID:9284832
RGD:4144892 , RGD:4144889 , RGD:4144866
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
G
EGF
epidermal growth factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17266442
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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EGFR
epidermal growth factor receptor
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:7524566 PMID:21177177 PMID:8879184
RGD:5131873 , RGD:5131634 , RGD:5131638
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EGR1
early growth response 1
disease_progression
IEP ISO
mRNA:increased expression:lung (human) mRNA:increased expression:lung (mouse)
RGD
PMID:19347046 PMID:19679873 PMID:20539010
RGD:4144870 , RGD:5131644 , RGD:5131877
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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ELANE
elastase, neutrophil expressed
ISO
RGD
PMID:19995276
RGD:10450562
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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ELN
elastin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10761639 PMID:26817844
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
G
F2
coagulation factor II, thrombin
ISO
RGD
PMID:21312187
RGD:5147767
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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F5
coagulation factor V
severity
ISO
RGD
PMID:11307811
RGD:11564339
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
G
FAM13A
family with sequence similarity 13 member A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
G
FGF1
fibroblast growth factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16324872
NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
G
FGF2
fibroblast growth factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8952537
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
G
FGF7
fibroblast growth factor 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15677771
NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
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FN1
fibronectin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26817844
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
G
FYN
FYN proto-oncogene, Src family tyrosine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30658076
NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452
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GCH1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:23739137
RGD:401700390
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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GREM1
gremlin 1, DAN family BMP antagonist
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17975199
NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106
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GSTP1
glutathione S-transferase pi 1
IEP
associated with Scleroderma, Systemic
RGD
PMID:17044913
RGD:4142516
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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HABP2
hyaluronan binding protein 2
ISO
RGD
PMID:20818495
RGD:11353855
NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
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HGF
hepatocyte growth factor
IEP EXP
associated with myositis;protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16324872 PMID:8952317
RGD:8548628
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
G
HMGB1
high mobility group box 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27616297
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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HMOX1
heme oxygenase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15814490
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HSP90AB1
heat shock protein 90 alpha family class B member 1
ISO
protein:decreased expression:lung (rat)
RGD
PMID:24670792
RGD:10445835
NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888
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HSPA1A
heat shock protein family A (Hsp70) member 1A
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:37307957
NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
G
HSPA1B
heat shock protein family A (Hsp70) member 1B
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:37307957
NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
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HSPA5
heat shock protein family A (Hsp70) member 5
ISO
mRNA,protein:increased expression:lungs
RGD
PMID:22227563
RGD:5685632
NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
G
HSPD1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:11746186
RGD:12910545
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (rat)
RGD
PMID:19254480
RGD:4145516
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IGF1
insulin like growth factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15286697
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IGFBP3
insulin like growth factor binding protein 3
IEP
RGD
PMID:15681824
RGD:1626120
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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IGFBP5
insulin like growth factor binding protein 5
IEP
RGD
PMID:15681824
RGD:1626120
NCBI chr 2:216,672,105...216,695,549
Ensembl chr 2:216,672,105...216,695,549
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IL12B
interleukin 12B
ISO EXP
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12193738 PMID:18598692 PMID:20176803
RGD:4889581 , RGD:4888529
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL13
interleukin 13
treatment
IEP EXP ISO
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 chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL15
interleukin 15
IEP
RGD
PMID:21309737
RGD:5147438
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL17A
interleukin 17A
IEP ISO
Idiopathic Pulmonary Fibrosis protein:increased expression:lung, bronchioalveolar lavage fluid (rat)
RGD
PMID:20176803 PMID:24721403 PMID:18338242 PMID:20176803
RGD:4888529 , RGD:9179762 , RGD:4889110 , RGD:4888529
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
IEP ISO
idiopathic pulmonary fibrosis; protein:increased expression:lung, serum
RGD
PMID:15308504 PMID:18598692
RGD:4889841 , RGD:4889581
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL18R1
interleukin 18 receptor 1
IEP
protein:increased expression:lung
RGD
PMID:15308504
RGD:4889841
NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777
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IL1A
interleukin 1 alpha
IAGP ISO
idiopathic pulmonary fibrosis; DNA:polymorphism:promoter: mRNA, protein:increased expression:alveolar macrophage:
RGD
PMID:17309781 PMID:9100454
RGD:4142803 , RGD:4142838
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1B
interleukin 1 beta
ISO EXP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:lung
CTD RGD
PMID:17266442 PMID:23640035 PMID:19945540 PMID:23132788 PMID:20522787
RGD:4142813 , RGD:7193137 , RGD:4142535
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
susceptibility disease_progression
IAGP EXP IEP
DNA:polymorphism (human) CTD Direct Evidence: therapeutic protein:increased expression:lung
CTD RGD
PMID:18403674 PMID:10934117 PMID:17056243 PMID:7767546
RGD:4143177 , RGD:4142874 , RGD:4143194
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL4
interleukin 4
treatment
ISO EXP
associated with Silicosis;protein:increased expression:respiratory system fluid/secretion CTD Direct Evidence: marker/mechanism associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung
CTD RGD
PMID:12574379 PMID:15322207 PMID:20490462 PMID:24269241 PMID:20861649
RGD:5128555 , RGD:10402793 , RGD:5128548
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL5
interleukin 5
ISO EXP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung
CTD RGD
PMID:17620002 PMID:14975941 PMID:17986108
RGD:4890954 , RGD:4890942
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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IL6
interleukin 6
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17266442 PMID:25216247 PMID:20846163
RGD:4143241
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL9
interleukin 9
ISO
associated with Silicosis
RGD
PMID:11306428
RGD:5128702
NCBI chr 5:135,892,246...135,895,841
Ensembl chr 5:135,892,246...135,895,841
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JAG1
jagged canonical Notch ligand 1
ISO
protein:increased expression:lung
RGD
PMID:27982686
RGD:155663660
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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KIF15
kinesin family member 15
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:35417304
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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LAMB1
laminin subunit beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28444932
NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213
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LEPR
leptin receptor
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:21317313
RGD:5128773
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LIAS
lipoic acid synthetase
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:32017981
NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109
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LOC110806263
TERT 5' regulatory region
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:20301779 PMID:21931702 PMID:25741868 PMID:28492532 PMID:30995915 PMID:31268371 More...
NCBI chr 5:1,294,628...1,298,988
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LOC110806306
telomerase RNA component (TERC) promoter
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 PMID:20193600 PMID:21844345 PMID:21931702 PMID:25741868 PMID:26136524 PMID:28492532 More...
NCBI chr 3:169,764,689...169,765,858
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MBL2
mannose binding lectin 2
IAGP
associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:18637104
RGD:4889479
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MECP2
methyl-CpG binding protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21435439
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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MFN2
mitofusin 2
treatment
ISO
RGD
PMID:24912636
RGD:13204824
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MIR100HG
mir-100-let-7a-2-mir-125b-1 cluster host gene
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:35472619
NCBI chr11:122,028,329...122,422,871
Ensembl chr11:122,028,325...122,556,721
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MIR101-1
microRNA 101-1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:28726637
NCBI chr 1:65,058,434...65,058,508
Ensembl chr 1:65,058,434...65,058,508
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MIR10A
microRNA 10a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947
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MIR122
microRNA 122
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
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MIR125A
microRNA 125a
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:30658076
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
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MIR140
microRNA 140
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:25926378 PMID:32462952
NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
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MIR145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
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MIR193A
microRNA 193a
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:30744607
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MIR200C
microRNA 200c
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:25926378 PMID:29113749
NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766
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MIR21
microRNA 21
treatment
ISO
RGD
PMID:29084974
RGD:41404715
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR223
microRNA 223
disease_progression
ISO
RGD
PMID:32329871
RGD:25824948
NCBI chr X:66,018,870...66,018,979
Ensembl chr X:66,018,870...66,018,979
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MIR23C
microRNA 23c
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:29216763
NCBI chr X:20,017,088...20,017,187
Ensembl chr X:20,017,088...20,017,187
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MIR26B
microRNA 26b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 2:218,402,646...218,402,722
Ensembl chr 2:218,402,646...218,402,722
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MIR29C
microRNA 29c
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939
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MIR30A
microRNA 30a
EXP ISO
CTD Direct Evidence: marker/mechanism RNA:decreased expression:lung
CTD RGD
PMID:25926378 PMID:25284615
RGD:35673291
NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621
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MIR326
microRNA 326
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr11:75,335,092...75,335,186
Ensembl chr11:75,335,092...75,335,186
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MIR345
microRNA 345
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr14:100,307,859...100,307,956
Ensembl chr14:100,307,859...100,307,956
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MIR378A
microRNA 378a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 5:149,732,825...149,732,890
Ensembl chr 5:149,732,825...149,732,890
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MIR425
microRNA 425
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr 3:49,020,148...49,020,234
Ensembl chr 3:49,020,148...49,020,234
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MIR451A
microRNA 451a
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:34460027
NCBI chr17:28,861,369...28,861,440
Ensembl chr17:28,861,369...28,861,440
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MIR490
microRNA 490
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:33482250
NCBI chr 7:136,903,167...136,903,294
Ensembl chr 7:136,903,167...136,903,294
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MMP1
matrix metallopeptidase 1
ISO
RGD
PMID:22571259
RGD:7207277
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP2
matrix metallopeptidase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21468558
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP3
matrix metallopeptidase 3
ISO
RGD
PMID:21871427
RGD:8694097
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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MMP9
matrix metallopeptidase 9
treatment
ISO EXP
protein:increased expression:lung, plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21468558 PMID:17121240 PMID:23318412
RGD:1642054 , RGD:13204970
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MT2A
metallothionein 2A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18528683
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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MTOR
mechanistic target of rapamycin kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28936961
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA, protein:increased expression:lung mRNA:increased expression:lung
RGD
PMID:14680076 PMID:19154443
RGD:5131207 , RGD:2314537
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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NAF1
nuclear assembly factor 1 ribonucleoprotein
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23570914 PMID:19138753
RGD:6893396
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NGF
nerve growth factor
IEP
protein:increased expression:sputum
RGD
PMID:12917229
RGD:4891121
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NGFR
nerve growth factor receptor
ISO
RGD
PMID:17576803
RGD:5144067
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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NKX2-5
NK2 homeobox 5
ISO
mRNA:decreased expression:lung, fibroblast
RGD
PMID:19395679
RGD:5131637
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:20668217
RGD:4891482
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOTCH1
notch receptor 1
ISO
protein:increased expression:lung
RGD
PMID:27982686
RGD:155663660
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA, protein:increased expression:lung
RGD
PMID:21330466
RGD:5684550
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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OGG1
8-oxoguanine DNA glycosylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35654123
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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PARN
poly(A)-specific ribonuclease
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:9736620 PMID:16199547 PMID:25741868 PMID:25848748 PMID:26482878 PMID:26810774 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:30525901 More...
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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PARP1
poly(ADP-ribose) polymerase 1
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27704718 PMID:23260200
RGD:10413908
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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PDGFA
platelet derived growth factor subunit A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16324872
NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296
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PDGFB
platelet derived growth factor subunit B
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15286697 PMID:21868503 PMID:22523431
RGD:6482756 , RGD:6482831
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PDGFRA
platelet derived growth factor receptor alpha
ISO
RGD
PMID:9458803
RGD:11080970
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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PLAU
plasminogen activator, urokinase
treatment
IDA ISO
human protein in rat model
RGD
PMID:7516275 PMID:23327706 PMID:12376355
RGD:7241204 , RGD:7241544 , RGD:7241206
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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PSEN2
presenilin 2
ISO
RGD
PMID:10518543
RGD:1302521
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO IAGP
associated with sarcoidosis; DNA:SNP: :-765G>C (human)
RGD
PMID:17825173 PMID:21681100
RGD:1642597 , RGD:5135504
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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PTX3
pentraxin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22210019
NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
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RTEL1
regulator of telomere elongation helicase 1
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 PMID:25047097 PMID:25326637 PMID:25607374 PMID:25741868 PMID:25848748 PMID:27128385 PMID:27540018 PMID:28099038 PMID:28104920 PMID:28192371 PMID:28492532 PMID:28495916 PMID:28930861 PMID:29146883 PMID:29344583 PMID:29361909 PMID:30523160 PMID:31785789 PMID:36655009 PMID:37392813 More...
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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RTEL1-TNFRSF6B
RTEL1-TNFRSF6B readthrough (NMD candidate)
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 PMID:25047097 PMID:25326637 PMID:25607374 PMID:25741868 PMID:25848748 PMID:27128385 PMID:27540018 PMID:28099038 PMID:28104920 PMID:28192371 PMID:28492532 PMID:28495916 PMID:28930861 PMID:29146883 PMID:29344583 PMID:29361909 PMID:30523160 PMID:31785789 PMID:36655009 PMID:37392813 More...
NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
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SCGB1A1
secretoglobin family 1A member 1
IEP ISO
associated with scleroderma, systemic; protein:increased expression:serum: mRNA,protein:decreased expression:lung
RGD
PMID:21239758 PMID:16369113
RGD:5144130 , RGD:5144139
NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
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SCGB3A2
secretoglobin family 3A member 2
ISO
RGD
PMID:21478551
RGD:5144129
NCBI chr 5:147,878,711...147,882,191
Ensembl chr 5:147,870,682...147,882,191
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SERPINA1
serpin family A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:72955
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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SERPINE1
serpin family E member 1
treatment
ISO IDA
protein:increased activity:plasma Idiopathic Pulmonary Fibrosis
RGD
PMID:16224526 PMID:22659625 PMID:20061390
RGD:4144842 , RGD:8547927 , RGD:4143513
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SFTPA1
surfactant protein A1
disease_progression susceptibility
IEP IAGP
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 chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPA2
surfactant protein A2
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:19100526
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
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SFTPB
surfactant protein B
susceptibility
IAGP
DNA:polymorphism (human)
RGD
PMID:13680361
RGD:4143409
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SFTPC
surfactant protein C
susceptibility
IAGP ISO
DNA:polymorphisms: :p.M71V, p.I73T (human) ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar RGD
PMID:15039969 PMID:15293602 PMID:15572558 PMID:15756222 PMID:17597647 PMID:19443464 PMID:21092132 PMID:21707890 PMID:22308375 PMID:25657025 PMID:25741868 PMID:27362365 PMID:28492532 PMID:31081264 PMID:33526882 PMID:20656946 PMID:16251411 More...
RGD:4144060 , RGD:4144124
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SKIL
SKI like proto-oncogene
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:23590892
NCBI chr 3:170,357,715...170,396,849
Ensembl chr 3:170,357,342...170,396,835
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SMAD4
SMAD family member 4
treatment
ISO
associated with Silicosis
RGD
PMID:21941776 PMID:22558986
RGD:12880047 , RGD:12880048
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMAD7
SMAD family member 7
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:23590892
NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965
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SNHG6
small nucleolar RNA host gene 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35785413
NCBI chr 8:66,921,690...66,925,541
Ensembl chr 8:66,920,561...66,926,398
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SOD1
superoxide dismutase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26699812
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SOD3
superoxide dismutase 3
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:15298984
NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
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SPARC
secreted protein acidic and cysteine rich
ISO
associated with Middle East respiratory syndrome;mRNA:increased expression:lung:
RGD
PMID:31838832
RGD:30309204
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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SPP1
secreted phosphoprotein 1
EXP ISO
CTD Direct Evidence: marker/mechanism associated with Middle East respiratory syndrome;mRNA:increased expression:lung:
CTD RGD
PMID:25216247 PMID:31838832
RGD:30309204
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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STAT1
signal transducer and activator of transcription 1
ISO
RGD
PMID:16806015
RGD:1600092
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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STAT3
signal transducer and activator of transcription 3
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30658076 PMID:22684844
RGD:6892915
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STAT6
signal transducer and activator of transcription 6
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:26699812
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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TAB2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
treatment
ISO
RGD
PMID:32506869
RGD:155663374
NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
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TERC
telomerase RNA component
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 PMID:20193600 PMID:21844345 PMID:21931702 PMID:25741868 PMID:26136524 PMID:28492532 More...
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT
telomerase reverse transcriptase
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17264120 PMID:17392301 PMID:17460043 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18931339 PMID:19760749 PMID:20022961 PMID:20044353 PMID:20301779 PMID:20502709 PMID:21349926 PMID:21483807 PMID:21602826 PMID:21931702 PMID:22364217 PMID:22664374 PMID:22853774 PMID:22863003 PMID:23901009 PMID:24033266 PMID:25271372 PMID:25365545 PMID:25562321 PMID:25741868 PMID:26024875 PMID:26360549 PMID:26859482 PMID:27418648 PMID:27540018 PMID:28099038 PMID:28102861 PMID:28154186 PMID:28192371 PMID:28492532 PMID:29483670 PMID:30523342 PMID:30995915 PMID:31268371 PMID:33035329 PMID:33718801 PMID:34019641 PMID:34890115 More...
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TFPI
tissue factor pathway inhibitor
treatment
IDA
RGD
PMID:16338226
RGD:11062084
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
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TGFA
transforming growth factor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18424623
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TGFB1
transforming growth factor beta 1
treatment
IMP ISO EXP
associated with Middle East respiratory syndrome;mRNA:increased expression:lung CTD Direct Evidence: marker/mechanism protein:increased expression:lung associated with Silicosis associated with Asthma
CTD RGD
PMID:15286001 PMID:16324872 PMID:16365456 PMID:17266442 PMID:19817698 PMID:24762191 PMID:26817844 PMID:18403781 PMID:31838832 PMID:26822530 PMID:20833968 PMID:19439069 PMID:19542246 More...
RGD:4145279 , RGD:30309204 , RGD:14995444 , RGD:4145112 , RGD:2307220 , RGD:4145133
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TGFBR2
transforming growth factor beta receptor 2
ISO
RGD
PMID:17077588
RGD:1601591
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TIMP1
TIMP metallopeptidase inhibitor 1
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21468558 PMID:23318412
RGD:13204970
NCBI chr X:47,582,436...47,586,789
Ensembl chr X:47,582,408...47,586,789
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TINF2
TERF1 interacting nuclear factor 2
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
PMID:18252230 PMID:21536674 PMID:28492532
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TLR2
toll like receptor 2
ISO
associated with Pneumonia
RGD
PMID:20610040 PMID:19109203
RGD:4144177 , RGD:4145324
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
ISO
associated with acute lung injury
RGD
PMID:20610040 PMID:20017955
RGD:4144177 , RGD:4144120
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR9
toll like receptor 9
IEP
mRNA:increased expression:lung (human)
RGD
PMID:18633634
RGD:5130206
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF
tumor necrosis factor
treatment
ISO EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter
CTD RGD
PMID:11394717 PMID:16324872 PMID:17266442 PMID:25216247 PMID:26368622 PMID:2156165 PMID:19154443 PMID:12030733 PMID:7542280 More...
RGD:4142851 , RGD:2314537 , RGD:4143258 , RGD:4143417
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TWIST1
twist family bHLH transcription factor 1
IEP
mRNA:increased expression:lung
RGD
PMID:19893041
RGD:5131599
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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VWF
von Willebrand factor
ISO
associated with Radiation Injuries;protein:increased expression:lung parenchyma
RGD
PMID:8811296
RGD:11079207
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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LOC110806263
TERT 5' regulatory region
IAGP
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 ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1
ClinVar
PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 PMID:19489057 PMID:20301779 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 5:1,294,628...1,298,988
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TERT
telomerase reverse transcriptase
IAGP EXP
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 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 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 PMID:16627250 PMID:17264120 PMID:17392301 PMID:17460043 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21483807 PMID:21520173 PMID:21635204 PMID:21931702 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22664374 PMID:22853774 PMID:23335200 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25365545 PMID:25393420 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26365799 PMID:27354474 PMID:27540018 PMID:27622320 PMID:27836952 PMID:27848944 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29036293 PMID:29146883 PMID:29483670 PMID:29625052 PMID:30203795 PMID:30523342 PMID:31268371 PMID:35776903 More...
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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LOC110806306
telomerase RNA component (TERC) promoter
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2
ClinVar
PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 PMID:15098033 PMID:15319288 PMID:17392301 PMID:17640862 PMID:18753630 PMID:19760749 PMID:20022961 PMID:21436073 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:25612863 PMID:25741868 PMID:26024875 PMID:28492532 PMID:29146883 PMID:29483670 PMID:30426156 More...
NCBI chr 3:169,764,689...169,765,858
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TERC
telomerase RNA component
IAGP EXP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2
ClinVar CTD OMIM
PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 PMID:15098033 PMID:15319288 PMID:17392301 PMID:17640862 PMID:18753630 PMID:19760749 PMID:20022961 PMID:21436073 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:25612863 PMID:25741868 PMID:26024875 PMID:28492532 PMID:29146883 PMID:29483670 PMID:30426156 More...
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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EEF1A2
eukaryotic translation elongation factor 1 alpha 2
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
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FNDC11
fibronectin type III domain containing 11
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,553,020...63,556,708
Ensembl chr20:63,547,891...63,556,695
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GMEB2
glucocorticoid modulatory element binding protein 2
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,587,605...63,627,101
Ensembl chr20:63,587,602...63,627,101
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HELZ2
helicase with zinc finger 2
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239
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KCNQ2
potassium voltage-gated channel subfamily Q member 2
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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PPDPF
pancreatic progenitor cell differentiation and proliferation factor
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206
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PTK6
protein tyrosine kinase 6
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376
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RTEL1
regulator of telomere elongation helicase 1
IAGP EXP
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 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 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 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 PMID:23329068 PMID:23453664 PMID:23692823 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24130156 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25326637 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26847928 PMID:27128385 PMID:27415407 PMID:27779742 PMID:28099038 PMID:28104920 PMID:28492532 PMID:28495916 PMID:28930861 PMID:28979815 PMID:29146883 PMID:29296694 PMID:29344583 PMID:30462709 PMID:30523160 PMID:30523342 PMID:30995915 PMID:31785789 PMID:33718801 PMID:34021146 PMID:36655009 PMID:37392813 More...
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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RTEL1-TNFRSF6B
RTEL1-TNFRSF6B readthrough (NMD candidate)
IAGP
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 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 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
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23329068 PMID:23453664 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24130156 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25326637 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26847928 PMID:27128385 PMID:27415407 PMID:28099038 PMID:28104920 PMID:28492532 PMID:28495916 PMID:28930861 PMID:28979815 PMID:29146883 PMID:29296694 PMID:29344583 PMID:30462709 PMID:30523160 PMID:30523342 PMID:30995915 PMID:31785789 PMID:33718801 PMID:34021146 PMID:36655009 PMID:37392813 More...
NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
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SRMS
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749
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STMN3
stathmin 3
IAGP
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682
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PARN
poly(A)-specific ribonuclease
IAGP EXP
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 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4
OMIM ClinVar CTD
PMID:9736620 PMID:16199547 PMID:16281054 PMID:22834816 PMID:25741868 PMID:25848748 PMID:26342108 PMID:26482878 PMID:26810774 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:31448843 PMID:34298581 PMID:35982159 More...
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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ZCCHC8
zinc finger CCHC-type containing 8
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:31488579
NCBI chr12:122,471,600...122,500,932
Ensembl chr12:122,471,600...122,500,932
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RPA1
replication protein A1
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 ClinVar Annotator: match by term: RPA1-related short telomere syndrome
OMIM ClinVar
PMID:25741868 PMID:34767620
NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082
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NAF1
nuclear assembly factor 1 ribonucleoprotein
IAGP
ClinVar Annotator: match by term: NAF1-related condition ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
OMIM ClinVar
PMID:25741868 PMID:27510903 PMID:28492532
NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890
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POT1
protection of telomeres 1
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
ClinVar OMIM
PMID:35420632
NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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NOP10
NOP10 ribonucleoprotein
IAGP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
OMIM ClinVar
PMID:32139460
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
severity
IAGP
RGD
PMID:9036208
RGD:5128833
NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024
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ADA
adenosine deaminase
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10410539
RGD:5128856
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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BDNF
brain derived neurotrophic factor
IEP
RGD
PMID:16315781
RGD:4891110
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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C3
complement C3
IEP
protein:altered expression:lung
RGD
PMID:18069416
RGD:5129502
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CCL19
C-C motif chemokine ligand 19
IEP
mRNA, protein:increased expression:lung
RGD
PMID:12626344
RGD:5130912
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
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CCL5
C-C motif chemokine ligand 5
IEP
mRNA:increased expression:lung:bronchoalveolar lavage cell (human)
RGD
PMID:10384061
RGD:4891436
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCR5
C-C motif chemokine receptor 5
disease_progression
IEP IAGP
protein:altered expression:lung, lymphocyte, macrophage (human) DNA:polymorphisms:5' utr:multiple (human)
RGD
PMID:11790661 PMID:19679608
RGD:4892099 , RGD:4892066
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CCR7
C-C motif chemokine receptor 7
IEP
mRNA:increased expression:lung
RGD
PMID:12626344
RGD:5130912
NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,553,769...40,565,472
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CFTR
CF transmembrane conductance regulator
IAGP
DNA:mutations:whole blood :
RGD
PMID:20722470
RGD:4139905
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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CHI3L1
chitinase 3 like 1
IEP
protein:increased secretion:serum (human)
RGD
PMID:15763444
RGD:4892634
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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CRP
C-reactive protein
severity
IEP
RGD
PMID:21086905
RGD:5131289
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CXCL10
C-X-C motif chemokine ligand 10
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:17550373 PMID:9834133
RGD:5135438 , RGD:5135492
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL11
C-X-C motif chemokine ligand 11
IEP
protein:increased expression:serum
RGD
PMID:17550373
RGD:5135438
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
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CXCL5
C-X-C motif chemokine ligand 5
disease_progression
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:17052298
RGD:5135244
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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CXCL9
C-X-C motif chemokine ligand 9
IEP
protein:increased expression:serum, respiratory system fluid/secretion
RGD
PMID:17550373
RGD:5135438
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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CXCR3
C-X-C motif chemokine receptor 3
IEP
protein:increased expression:respiratory system fluid/secretion, T cell
RGD
PMID:9834133
RGD:5135492
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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CYBA
cytochrome b-245 alpha chain
no_association
IAGP
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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DEFB1
defensin beta 1
IEP
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
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DEFB4A
defensin beta 4A
IEP
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 Ensembl chr 8:7,894,677...7,896,716
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EGR1
early growth response 1
IEP
protein:increased expression:lung (human)
RGD
PMID:16933469
RGD:5131899
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility severity
IAGP
DNA:polymorphism:cds:DRB1*15 (human) DNA:polymorphism:cds:DRB1*03 (human)
RGD
PMID:15881283 PMID:15881283
RGD:40818305 , RGD:40818305
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HMOX1
heme oxygenase 1
IEP
protein:increased activity:sputum
RGD
PMID:19453654
RGD:4145349
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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IL15
interleukin 15
IEP
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL18
interleukin 18
IEP
protein:increased expression:bronchoalveolar lavage fluid protein:increased expression:serum
RGD
PMID:16734560 PMID:11174201
RGD:4889823 , RGD:4889863
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL18R1
interleukin 18 receptor 1
severity
IEP
RGD
PMID:14641797
RGD:5024944
NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777
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IL1RN
interleukin 1 receptor antagonist
IEP
RGD
PMID:8239179
RGD:4143198
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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LTA
lymphotoxin alpha
susceptibility
IAGP
DNA:SNP:intron:
RGD
PMID:15713215
RGD:4143248
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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MUC1
mucin 1, cell surface associated
IEP
protein:increased expression:serum
RGD
PMID:14665489
RGD:5131177
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
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NGF
nerve growth factor
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16315781 PMID:21059230
RGD:4891110 , RGD:5144061
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NOD2
nucleotide binding oligomerization domain containing 2
disease_progression
IAGP
DNA:polymorphism:exon:2104C>T (human)
RGD
PMID:19679608
RGD:4892066
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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NOS2
nitric oxide synthase 2
IEP
protein:increased expression:lung
RGD
PMID:11789718
RGD:4891449
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NR3C1
nuclear receptor subfamily 3 group C member 1
IEP
protein:increased expression:lung
RGD
PMID:2255800
RGD:4892566
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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NTF3
neurotrophin 3
disease_progression
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16315781 PMID:21059230
RGD:4891110 , RGD:5144061
NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536
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NTRK1
neurotrophic receptor tyrosine kinase 1
IEP
protein:increased expression: :
RGD
PMID:16315781
RGD:4891110
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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SFTPA1
surfactant protein A1
IEP
protein:decreased expression:lung
RGD
PMID:10543276
RGD:4143437
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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TGFB1
transforming growth factor beta 1
severity
IAGP
DNA:polymorphisms: :-509C>T (human)
RGD
PMID:17785866
RGD:4145294
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TLR2
toll like receptor 2
IEP ISO
mRNA:decreased expression:alveolar macrophage
RGD
PMID:20813038 PMID:23668840
RGD:4145301 , RGD:8553184
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TNC
tenascin C
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9780295
RGD:4889595
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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TNF
tumor necrosis factor
IDA IAGP
DNA:polymorphism:promoter
RGD
PMID:15653992 PMID:20070603
RGD:4143466 , RGD:4143236
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1B
TNF receptor superfamily member 1B
IEP
protein:increased expression:serum (human)
RGD
PMID:21508170
RGD:5131275
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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VIP
vasoactive intestinal peptide
IDA
RGD
PMID:20442436
RGD:5685623
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
ClinVar
PMID:25741868
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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RAB5B
RAB5B, member RAS oncogene family
IAGP
ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder
ClinVar
PMID:25741868 PMID:35121658
NCBI chr12:55,973,949...55,996,683
Ensembl chr12:55,973,913...55,996,683
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SFTPB
surfactant protein B
IAGP EXP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:7491219 PMID:8163685 PMID:9506635 PMID:9682215 PMID:9973546 PMID:10378403 PMID:10571948 PMID:10712351 PMID:10960490 PMID:21965505 PMID:23625987 PMID:24033266 PMID:25741868 PMID:26199800 PMID:28492532 PMID:28888561 More...
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SFTPC
surfactant protein C
IAGP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
ClinVar
PMID:25741868
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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BMP1
bone morphogenetic protein 1
IAGP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
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LOC129999976
ATAC-STARR-seq lymphoblastoid silent region 18982
IAGP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
ClinVar
NCBI chr 8:22,164,628...22,165,667
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SFTPC
surfactant protein C
IAGP EXP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:5942662 PMID:11207353 PMID:11893657 PMID:11991887 PMID:12538769 PMID:13817571 PMID:14735158 PMID:15039969 PMID:15293602 PMID:15516475 PMID:15572558 PMID:15647591 PMID:15709974 PMID:15756222 PMID:17597647 PMID:18383112 PMID:19443464 PMID:19910179 PMID:20118944 PMID:20403820 PMID:20658481 PMID:21092132 PMID:21707890 PMID:21828032 PMID:22308375 PMID:23025826 PMID:23166334 PMID:23775869 PMID:24033266 PMID:24081995 PMID:24347114 PMID:25105258 PMID:25657025 PMID:25741868 PMID:25782673 PMID:27362365 PMID:28492532 PMID:29554876 PMID:29569581 PMID:31081264 PMID:33526882 More...
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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USH2A
usherin
IAGP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
ClinVar
PMID:10729113 PMID:10909849 PMID:19881469 PMID:20507924 PMID:24033266 PMID:25649381 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28559085 More...
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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ABCA3
ATP binding cassette subfamily A member 3
IAGP EXP
ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 PMID:17429902 PMID:17517255 PMID:17597647 PMID:17618459 PMID:17719949 PMID:18024538 PMID:18246475 PMID:18317237 PMID:18492541 PMID:18603241 PMID:18676873 PMID:19220077 PMID:19647838 PMID:20371530 PMID:20656946 PMID:21214890 PMID:22068586 PMID:22145626 PMID:22304854 PMID:22337229 PMID:22434821 PMID:22435821 PMID:22455634 PMID:22800827 PMID:22866751 PMID:22995991 PMID:23166334 PMID:23443156 PMID:23625987 PMID:24033266 PMID:24047351 PMID:24115460 PMID:24136335 PMID:24142515 PMID:24657120 PMID:24871971 PMID:25073622 PMID:25105258 PMID:25113300 PMID:25406294 PMID:25553246 PMID:25692779 PMID:25712598 PMID:25741868 PMID:26375475 PMID:26467025 PMID:26517903 PMID:26547207 PMID:26928390 PMID:27374344 PMID:27516224 PMID:27670912 PMID:28034695 PMID:28492532 PMID:28642621 PMID:28808495 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31210424 PMID:31589614 PMID:31980526 PMID:32196812 PMID:32238781 PMID:32392962 PMID:32692933 PMID:32782805 PMID:33110422 PMID:33240318 PMID:33359301 PMID:33526094 PMID:33526882 PMID:33708521 PMID:34132118 PMID:34638622 PMID:34715861 PMID:35170262 PMID:35626240 PMID:36376106 PMID:36404394 PMID:36808083 More...
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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LOC130058230
ATAC-STARR-seq lymphoblastoid silent region 7042
IAGP
ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency
ClinVar
NCBI chr16:2,340,579...2,341,038
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CSF2RB
colony stimulating factor 2 receptor subunit beta
IAGP EXP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 PMID:25741868 PMID:27118405 PMID:28492532 More...
NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
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LOC126863140
BRD4-independent group 4 enhancer GRCh37_chr22:37321546-37322745
IAGP
ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
ClinVar
PMID:25741868 PMID:28492532
NCBI chr22:36,925,504...36,926,703
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ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:1886988
RGD:4890434
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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ATM
ATM serine/threonine kinase
susceptibility
IAGP
associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A (rs189037, s373759) (human)
RGD
PMID:20171797
RGD:150340755
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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C3
complement C3
IEP
Protein: increased expression: plasma
RGD
PMID:20510197
RGD:5129484
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C4BPA
complement component 4 binding protein alpha
IEP
Protein: increased expression: plasma
RGD
PMID:20510197
RGD:5129484
NCBI chr 1:207,104,233...207,144,972
Ensembl chr 1:207,104,233...207,144,972
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CBLB
Cbl proto-oncogene B
susceptibility
IAGP
associated with lung non-small cell carcinoma; DNA:SNP,haplotype: :rs2305035(human)
RGD
PMID:26732495
RGD:150540334
NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
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CCL17
C-C motif chemokine ligand 17
ISO
mRNA, protein:increased expression:lung, alveolar macrophage
RGD
PMID:15293604
RGD:4145517
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
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CCL22
C-C motif chemokine ligand 22
ISO
mRNA, protein:increased expression:lung, alveolar macrophage
RGD
PMID:15293604
RGD:4145517
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
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IL13
interleukin 13
susceptibility
IAGP
associated with carcinoma, non-small-cell lung; DNA:SNPs: :rs20541, rs180925 (human)
RGD
PMID:20811626
RGD:5131286
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL1A
interleukin 1 alpha
susceptibility
IAGP
associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1800587,rs17561(human)
RGD
PMID:20811626
RGD:5131286
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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MIF
macrophage migration inhibitory factor
susceptibility
IAGP
associated with carcinoma, non-small-cell lung; DNA:SNP: :rs755622(human)
RGD
PMID:20811626
RGD:5131286
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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NOS3
nitric oxide synthase 3
susceptibility
IAGP
associated with carcinoma, non-small-cell lung;DNA:SNP:cds:c.894G>T rs1799983 (human)
RGD
PMID:20811626
RGD:5131286
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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SFTPD
surfactant protein D
susceptibility
IEP
RGD
PMID:20459699
RGD:4143486
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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TGFB1
transforming growth factor beta 1
susceptibility
IEP ISO IAGP
protein:increased expression:blood DNA:SNP:exon:869T>C (rs1982073) (human)
RGD
PMID:19943923 PMID:18411002 PMID:19380441
RGD:4145121 , RGD:4145278 , RGD:4145136
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TNF
tumor necrosis factor
susceptibility
IAGP
associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)
RGD
PMID:20811626
RGD:5131286
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:18347190
RGD:5131153
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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VTN
vitronectin
IEP
Protein: increased expression: plasma
RGD
PMID:20510197
RGD:5129484
NCBI chr17:28,367,284...28,370,307
Ensembl chr17:28,367,284...28,373,091
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FARSB
phenylalanyl-tRNA synthetase subunit beta
IAGP
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications
ClinVar
PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 PMID:30014610 PMID:35937029 More...
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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FARSB
phenylalanyl-tRNA synthetase subunit beta
IAGP EXP
ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532 PMID:29979980
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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FARSA
phenylalanyl-tRNA synthetase subunit alpha
IAGP
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2
OMIM ClinVar
PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614 PMID:35918773
NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
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FARSA-AS1
FARSA antisense RNA 1
IAGP
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2
ClinVar
PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614
NCBI chr19:12,930,522...12,933,296
Ensembl chr19:12,930,522...12,933,296
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PNPLA6
patatin like phospholipase domain containing 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23418070
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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AHR
aryl hydrocarbon receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22273745
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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ARG1
arginase 1
ISO EXP
mRNA:increased expression:lung (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15292275 PMID:17365572
RGD:4143368
NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
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ARPC2
actin related protein 2/3 complex subunit 2
ISO
mRNA:altered expression:lung (rat)
RGD
PMID:18685790
RGD:4893904
NCBI chr 2:218,217,189...218,254,348
Ensembl chr 2:218,217,141...218,254,356
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C3
complement C3
IAGP
DNA:polymorphism (human)
RGD
PMID:12096683
RGD:5129516
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CAV1
caveolin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36053221
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCL2
C-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26163174
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL7
C-C motif chemokine ligand 7
ISO
RGD
PMID:21830856
RGD:6483764
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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CD36
CD36 molecule (CD36 blood group)
treatment
ISO
RGD
PMID:24053919
RGD:11041147
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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CHIA
chitinase acidic
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:18685790
RGD:4893904
NCBI chr 1:111,290,851...111,320,563
Ensembl chr 1:111,290,851...111,320,566
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CPM
carboxypeptidase M
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24986923
NCBI chr12:68,842,197...68,963,469
Ensembl chr12:68,842,197...68,971,570
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CSF2
colony stimulating factor 2
ISO
protein:increased expression:serum:
RGD
PMID:21505002
RGD:10450467
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IEP
RGD
PMID:16831302
RGD:4891515
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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EGR1
early growth response 1
ISO
protein:increased expression:lung, epithelial cell, macrophage (rat)
RGD
PMID:15033019
RGD:5131937
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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ELN
elastin
ISO
protein:increased expression:lung connective tissue:
RGD
PMID:7573374
RGD:9585691
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:37979906
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
IAGP
DNA:polymorphism: :HLA-DQB1*0402(human)
RGD
PMID:11776400
RGD:36049758
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HMOX1
heme oxygenase 1
ISO IEP
protein:increased expression:serum, lung
RGD
PMID:16858012 PMID:16858012
RGD:4145384 , RGD:4145384
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HNRNPA3
heterogeneous nuclear ribonucleoprotein A3
ISO
protein:increased expression:lung
RGD
PMID:19534998
RGD:10059658
NCBI chr 2:177,212,794...177,223,959
Ensembl chr 2:177,212,694...177,223,959
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IFT88
intraflagellar transport 88
ISO
protein:decreased expression:lung
RGD
PMID:32042332
RGD:155791682
NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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IL17A
interleukin 17A
ISO
mRNA, protein:increased expression:lung
RGD
PMID:20421647
RGD:4888525
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1B
interleukin 1 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23640035
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
susceptibility treatment
IAGP ISO
DNA:SNP (human)
RGD
PMID:11264025 PMID:23842733
RGD:4142816 , RGD:8551847
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL2RA
interleukin 2 receptor subunit alpha
ISO
RGD
PMID:21072213
RGD:4891500
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27621875
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
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KIF3A
kinesin family member 3A
ISO IEP
protein:decreased expression:lung protein:increased expression:respiratory system fluid/secretion:
RGD
PMID:32042332 PMID:32042332
RGD:155791682 , RGD:155791682
NCBI chr 5:132,688,812...132,737,546
Ensembl chr 5:132,692,628...132,737,638
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MARCO
macrophage receptor with collagenous structure
treatment
ISO
RGD
PMID:30391304
RGD:41412200
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
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MMP13
matrix metallopeptidase 13
ISO
mRNA:increased expression:lung, fibroblast
RGD
PMID:9614183
RGD:10043156
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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NOS2
nitric oxide synthase 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15292275 PMID:15205031
RGD:4891445
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NPM1
nucleophosmin 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:37399107
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
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PDZRN4
PDZ domain containing ring finger 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24986923
NCBI chr12:41,188,320...41,574,745
Ensembl chr12:41,188,320...41,574,745
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PRKCB
protein kinase C beta
ISO
protein:increased activation:alveolar macrophage
RGD
PMID:14680365
RGD:1625527
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
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PTEN
phosphatase and tensin homolog
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27621875
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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RTEL1
regulator of telomere elongation helicase 1
ISO
mRNA:decreased expression:lung (rat)
RGD
PMID:29230030
RGD:152977761
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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TERT
telomerase reverse transcriptase
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:29230030
RGD:152977761
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TNF
tumor necrosis factor
treatment
IAGP ISO
DNA:polymorphisms: :
RGD
PMID:11264025 PMID:25199287
RGD:4142816 , RGD:10450591
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:11208652
RGD:5131150
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
RGD
PMID:11208652
RGD:5131150
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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STING1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar Annotator: match by term: Pulmonary Surfactant Metabolism Dysfunction, Recessive | ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction
ClinVar
PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 PMID:16959783 PMID:17429902 PMID:17517255 PMID:17597647 PMID:17660803 PMID:18024538 PMID:18246475 PMID:18317237 PMID:18492541 PMID:18603241 PMID:18676873 PMID:19220077 PMID:19647838 PMID:20371530 PMID:20656946 PMID:21189475 PMID:21214890 PMID:22068586 PMID:22145626 PMID:22304854 PMID:22337229 PMID:22434821 PMID:22435821 PMID:22455634 PMID:22800827 PMID:22866751 PMID:22995991 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24047351 PMID:24115460 PMID:24136335 PMID:24142515 PMID:24657120 PMID:24871971 PMID:25073622 PMID:25105258 PMID:25113300 PMID:25553246 PMID:25692779 PMID:25712598 PMID:25741868 PMID:26375475 PMID:26467025 PMID:26517903 PMID:26547207 PMID:26928390 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:28602350 PMID:28642621 PMID:28808495 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32196812 PMID:32238781 PMID:32692933 PMID:32782805 PMID:33110422 PMID:33240318 PMID:33526094 PMID:33526882 PMID:33708521 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 PMID:36404394 PMID:36808083 More...
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
G
BMP1
bone morphogenetic protein 1
IAGP
ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
G
SFTPB
surfactant protein B
IAGP
ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction
ClinVar
PMID:7491219 PMID:9506635 PMID:9973546 PMID:10571948 PMID:10712351 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28888561 More...
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
G
SFTPC
surfactant protein C
IAGP
ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction
ClinVar
PMID:11893657 PMID:14735158 PMID:15039969 PMID:15293602 PMID:15516475 PMID:15557112 PMID:15572558 PMID:15709974 PMID:15756222 PMID:17597647 PMID:18383112 PMID:19443464 PMID:19910179 PMID:20403820 PMID:20463293 PMID:20658481 PMID:21092132 PMID:21707890 PMID:22308375 PMID:22458263 PMID:23775869 PMID:24033266 PMID:24081995 PMID:24347114 PMID:25657025 PMID:25741868 PMID:27362365 PMID:28157837 PMID:28492532 PMID:29805340 PMID:31081264 PMID:33526882 More...
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all