RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | interstitial lung disease |
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Accession: | DOID:3082
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browse the term
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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; MIM:PS619611; NCI:C164315 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
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ISO |
associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human) |
RGD |
PMID:22009278 |
RGD:11096518 |
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Bdnf |
brain-derived neurotrophic factor |
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ISO |
associated with Sjogren's Syndrome;protein:decreased expression:serum: |
RGD |
PMID:24691584 |
RGD:8657022 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:18276722 |
RGD:4145606 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
ISO IMP |
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:20089076 |
RGD:4891431 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr2 |
C-C motif chemokine receptor 2 |
severity |
ISO |
protein:increased expression: T cell |
RGD |
PMID:16095529 |
RGD:4145064 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5 |
C-C motif chemokine receptor 5 |
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ISO |
associated with Scleroderma, Systemic; protein:increased expression:blood, T cell (human) |
RGD |
PMID:18383361 |
RGD:4892085 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd28 |
Cd28 molecule |
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ISO |
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RGD |
PMID:20030671 |
RGD:5131613 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cma1 |
chymase 1 |
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ISO |
protein:increased expression:lung, mast cell (human) |
RGD |
PMID:17334631 |
RGD:5128816 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Copa |
COPI coat complex subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25894502 |
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NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
protein:increased expression:alveolar macrophage protein:increased expression:serum |
RGD |
PMID:19816001 PMID:19565490 |
RGD:5135305, RGD:5135306 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
protein:increased expression:alveolar macrophage protein:increased expression:serum |
RGD |
PMID:19816001 PMID:19565490 |
RGD:5135305, RGD:5135306 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Des |
desmin |
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ISO |
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...
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Farsb |
phenylalanyl-tRNA synthetase subunit beta |
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ISO |
ClinVar Annotator: match by term: Interstitial pneumonitis |
ClinVar |
PMID:29979980 |
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NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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Hgf |
hepatocyte growth factor |
severity |
ISO |
associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human) |
RGD |
PMID:21520010 |
RGD:8548623 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hmox1 |
heme oxygenase 1 |
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ISO |
Idiopathic Interstitial Pneumonias;protein:increased expression:lung |
RGD |
PMID:11727267 |
RGD:4145416 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Idua |
alpha-L-iduronidase |
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ISO |
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...
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NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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Il18 |
interleukin 18 |
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ISO IEP |
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 chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a |
interleukin 1 alpha |
susceptibility |
ISO IMP |
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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1rn |
interleukin 1 receptor antagonist |
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ISO |
protein:increased expression:alveolar macrophage associated with Scleroderma, Systemic;protein:increased expression:plasma |
RGD |
PMID:8342915 PMID:20404807 |
RGD:4143199, RGD:4142853 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:21257923 |
RGD:5144220 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4r |
interleukin 4 receptor |
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ISO |
Idiopathic Interstitial Pneumonias |
RGD |
PMID:15161635 |
RGD:4890021 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
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RGD |
PMID:15887294 |
RGD:12910743 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid |
RGD |
PMID:17643278 PMID:20185904 |
RGD:5130207, RGD:5130857 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpo |
myeloperoxidase |
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ISO |
associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid |
RGD |
PMID:17643278 |
RGD:5130207 |
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Muc1 |
mucin 1, cell surface associated |
severity |
ISO |
protein:increased expression:serum associated with Scleroderma, Systemic;protein:increased expression:serum |
RGD |
PMID:15088311 PMID:19286849 PMID:15654008 |
RGD:5131176, RGD:4143496, RGD:5131173 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Ngf |
nerve growth factor |
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ISO |
associated with Sjogren's Syndrome;protein:increased expression:serum: |
RGD |
PMID:24691584 |
RGD:8657022 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nos2 |
nitric oxide synthase 2 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:11789718 |
RGD:4891449 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
disease_progression |
ISO |
protein:increased expression:lung |
RGD |
PMID:4028852 |
RGD:4892567 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Padi4 |
peptidyl arginine deiminase 4 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:25741868 |
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NCBI chr 5:153,041,351...153,074,412
Ensembl chr 5:153,041,352...153,074,362
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Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:12765340 |
RGD:4144846 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sftpa1 |
surfactant protein A1 |
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ISO |
protein:increased expression:serum protein:decreased expression:lung |
RGD |
PMID:9216212 PMID:11445799 |
RGD:4143449, RGD:4143430 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb |
surfactant protein B |
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ISO |
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 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc |
surfactant protein C |
susceptibility |
ISO |
DNA:missense mutation:exon:p.I73T (human) ClinVar Annotator: match by term: Interstitial lung disease protein:decreased expression:lung DNA:mutations: :multiple (human) DNA:polymorphism:exon:p.N186S (human) |
ClinVar RGD |
PMID:25741868 PMID:15756222 PMID:12519727 PMID:11445799 PMID:19443464 PMID:16423270 More...
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RGD:4143400, RGD:4143413, RGD:4143430, RGD:4144064, RGD:4144126 |
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Sftpd |
surfactant protein D |
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ISO |
protein:increased expression:serum associated with Scleroderma, Systemic;protein:increased expression:serum |
RGD |
PMID:9216212 PMID:19286849 |
RGD:4143449, RGD:4143496 |
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Slc26a1 |
solute carrier family 26 member 1 |
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ISO |
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...
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NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10673208 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31268371 |
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NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
associated with Arthritis, Rheumatoid;protein:increased expression:serum |
RGD |
PMID:18846962 |
RGD:4145270 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr9 |
toll-like receptor 9 |
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ISO |
mRNA, protein:increased expression:lung (human) |
RGD |
PMID:18633634 |
RGD:5130206 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
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...
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Atp1a4 |
ATPase Na+/K+ transporting subunit alpha 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394417 |
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NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
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Flacc1 |
flagellum associated containing coiled-coil domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394417 |
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NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20005085 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20005085 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn |
interleukin 1 receptor antagonist |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20005085 |
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Rbm26 |
RNA binding motif protein 26 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394417 |
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NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20005085 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Agt |
angiotensinogen |
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IEP |
protein:increased expression:kidney, urine mRNA, protein:increased expression:liver, plasma |
RGD |
PMID:21282555 PMID:7550093 |
RGD:5129185, RGD:11039051 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a |
angiotensin II receptor, type 1a |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:21282555 |
RGD:5129185 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Bax |
BCL2 associated X, apoptosis regulator |
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IEP |
mRNA, protein:increased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2 |
BCL2, apoptosis regulator |
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IEP |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:12234300 |
RGD:1579984 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Ccl17 |
C-C motif chemokine ligand 17 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IEP IDA |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 PMID:20071465 PMID:21894146 |
RGD:2307059, RGD:4145614, RGD:6218988 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl22 |
C-C motif chemokine ligand 22 |
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IMP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:12651599 |
RGD:2306306 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccl4 |
C-C motif chemokine ligand 4 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccl5 |
C-C motif chemokine ligand 5 |
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IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17898087 |
RGD:2307059 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd274 |
CD274 molecule |
treatment |
ISO |
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RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:15210767 |
RGD:7248442 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
|
IMP |
|
RGD |
PMID:15458437 |
RGD:5508170 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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|
G |
Cd80 |
Cd80 molecule |
|
IMP |
|
RGD |
PMID:10712436 |
RGD:6902936 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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|
G |
Cfb |
complement factor B |
|
ISO |
|
RGD |
PMID:22492944 |
RGD:7242700 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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|
G |
Clu |
clusterin |
|
IEP |
protein:increased expression:urine |
RGD |
PMID:23791361 |
RGD:9068422 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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|
G |
Csf1 |
colony stimulating factor 1 |
treatment |
IDA |
|
RGD |
PMID:19242505 |
RGD:7257569 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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|
G |
Csf1r |
colony stimulating factor 1 receptor |
treatment ameliorates |
IDA IMP |
|
RGD |
PMID:19242505 PMID:21519331 |
RGD:7257569, RGD:151665824 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
|
RGD |
PMID:10712436 PMID:8206086 PMID:10712436 |
RGD:6902936, RGD:11352257, RGD:6902936 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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|
G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
IEP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
|
|
G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
IEP |
mRNA, protein:increased expression:glomerulus |
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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|
G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
|
IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:17557270 |
RGD:2306579 |
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
|
|
G |
Dusp1 |
dual specificity phosphatase 1 |
|
IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:8587253 |
RGD:633769 |
NCBI chr10:16,680,478...16,683,275
|
|
G |
Fcgr3a |
Fc gamma receptor 3A |
no_association |
ISO |
DNA:cnv: : DNA:polymorphism:exon:(rs396991)(human) |
RGD |
PMID:19946017 PMID:19640933 |
RGD:5508400, RGD:5508403 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
|
|
G |
Gp6 |
glycoprotein VI |
|
ISO |
|
RGD |
PMID:20651232 |
RGD:7242710 |
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
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|
G |
Il10 |
interleukin 10 |
treatment |
IDA |
|
RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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|
G |
Il17a |
interleukin 17A |
treatment |
IDA |
|
RGD |
PMID:23826305 |
RGD:7365004 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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|
G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:22046355 |
RGD:6893447 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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|
G |
Il1b |
interleukin 1 beta |
|
ISO IEP |
mRNA:increased expression:kidney (mouse) mRNA, protein:increased expression:kidney |
RGD |
PMID:22046355 PMID:9198037 |
RGD:6893447, RGD:7401232 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
IDA |
|
RGD |
PMID:20071465 |
RGD:4145614 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il4 |
interleukin 4 |
|
IMP IDA |
|
RGD |
PMID:9350645 PMID:17898087 |
RGD:2317673, RGD:2307059 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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|
G |
Itga4 |
integrin subunit alpha 4 |
treatment |
IDA IMP |
|
RGD |
PMID:9032136 PMID:7679412 |
RGD:2308810, RGD:9698425 |
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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G |
Mapk14 |
mitogen activated protein kinase 14 |
|
IEP |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
IEP |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mif |
macrophage migration inhibitory factor |
|
IDA |
|
RGD |
PMID:10780884 |
RGD:1642011 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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|
G |
Mmp12 |
matrix metallopeptidase 12 |
|
IEP |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
|
|
G |
Mmp14 |
matrix metallopeptidase 14 |
|
IEP |
mRNA:increased expression:kidney, macrophage |
RGD |
PMID:10878552 |
RGD:2314954 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Nos2 |
nitric oxide synthase 2 |
|
IEP |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nppb |
natriuretic peptide B |
|
ISO |
|
RGD |
PMID:11729234 |
RGD:7248605 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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|
G |
Pdcd1 |
programmed cell death 1 |
treatment |
IEP |
|
RGD |
PMID:21965585 |
RGD:7248671 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Pf4 |
platelet factor 4 |
treatment |
IEP |
|
RGD |
PMID:7573480 |
RGD:329901920 |
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
|
RGD |
PMID:17888025 |
RGD:5563035 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Ptk2b |
protein tyrosine kinase 2 beta |
|
IEP |
protein:increased expression:glomerulus |
RGD |
PMID:11774117 |
RGD:729912 |
NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
|
IEP |
protein:increased expression:renal glomerulus |
RGD |
PMID:18784646 |
RGD:11534983 |
NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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|
G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
|
ISO |
|
RGD |
PMID:21569485 |
RGD:5147561 |
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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G |
Selp |
selectin P |
|
IDA |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Slc34a1 |
solute carrier family 34 member 1 |
|
ISO |
protein:decreased expression:kidney, brush border membrane (mouse) |
RGD |
PMID:19193726 |
RGD:7242947 |
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Slit2 |
slit guidance ligand 2 |
|
IEP |
mRNA:decreased expression:kidney, glomerulus |
RGD |
PMID:15215188 |
RGD:2316132 |
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
|
RGD |
PMID:20504883 |
RGD:6903276 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Syk |
spleen associated tyrosine kinase |
|
IMP |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
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G |
Tnf |
tumor necrosis factor |
|
IEP |
|
RGD |
PMID:21894146 |
RGD:6218988 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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|
G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
protein:increased expression:urine, serum: |
RGD |
PMID:23460853 |
RGD:7241232 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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|
G |
Xcl1 |
X-C motif chemokine ligand 1 |
|
IEP |
mRNA:increased expression:glomerulus |
RGD |
PMID:9717977 |
RGD:8693304 |
NCBI chr13:77,248,687...77,252,343
Ensembl chr13:77,248,717...77,252,329
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G |
Arg1 |
arginase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26699812 |
|
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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G |
Atf6 |
activating transcription factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25324550 |
|
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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G |
Cfd |
complement factor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22832039 |
|
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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|
G |
Clca1 |
chloride channel accessory 1 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:17637221 |
RGD:4145655 |
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
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|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
mRNA:decreased expression:leukocyte |
RGD |
PMID:20514434 |
RGD:4892076 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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|
G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25324550 |
|
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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|
G |
Ephx1 |
epoxide hydrolase 1 |
susceptibility |
ISO |
DNA:SNP:exon:p.Y113H (rs1051740) (human) |
RGD |
PMID:17159790 |
RGD:4889408 |
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:9055949 |
RGD:5490588 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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|
G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17563610 |
|
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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|
G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25324550 |
|
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8473757 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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|
G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24142982 |
|
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:lung |
CTD RGD |
PMID:12160931 PMID:12160931 PMID:12051993 |
RGD:4891441, RGD:4891438 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22537621 |
|
NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
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|
G |
Prdx2 |
peroxiredoxin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22537621 |
|
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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|
G |
Serpina1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12368052 |
|
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16221779 PMID:21514415 |
|
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tnc |
tenascin C |
|
ISO |
protein:increased expression:pleura |
RGD |
PMID:10950882 |
RGD:4889594 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8473757 PMID:20486865 |
|
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
|
|
G |
Tpm4 |
tropomyosin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22537621 |
|
NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984
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|
|
G |
Ackr1 |
atypical chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983
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|
G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif, 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
|
|
G |
Aim2 |
absent in melanoma 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
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|
G |
Apcs |
amyloid P component, serum |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298
|
|
G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
|
|
G |
Arhgap30 |
Rho GTPase activating protein 30 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885
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G |
Atf6 |
activating transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
|
|
G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
|
|
G |
Atp1a4 |
ATPase Na+/K+ transporting subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
|
|
G |
B4galt3 |
beta-1,4-galactosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,691,378...83,697,448
Ensembl chr13:83,691,446...83,697,448
|
|
G |
C13h1orf226 |
similar to human chromosome 1 open reading frame 226 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,530,589...82,538,676
Ensembl chr13:82,530,577...82,820,949
|
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G |
Cadm3 |
cell adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,784,785...85,817,412
Ensembl chr13:85,786,483...85,817,749
|
|
G |
Casq1 |
calsequestrin 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
|
|
G |
Cd244 |
CD244 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,051,339...84,082,864
Ensembl chr13:84,052,493...84,074,492
|
|
G |
Cd48 |
Cd48 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,184,884...84,209,144
Ensembl chr13:84,185,532...84,209,142
|
|
G |
Cd84 |
CD84 molecule |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,327,580...84,367,153
Ensembl chr13:84,327,553...84,362,076
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G |
Cfap126 |
cilia and flagella associated protein 126 |
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ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552
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G |
Cfap45 |
cilia and flagella associated protein 45 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
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G |
Copa |
COPI coat complex subunit alpha |
|
ISO ISS |
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 |
OMIM ClinVar MouseDO |
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...
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NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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G |
Crp |
C-reactive protein |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Dcaf8 |
DDB1 and CUL4 associated factor 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
Dedd |
death effector domain-containing |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,755,874...83,769,982
Ensembl chr13:83,756,108...83,769,332
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G |
Dusp12 |
dual specificity phosphatase 12 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285
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G |
Dusp23 |
dual specificity phosphatase 23 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,097,899...85,100,054
Ensembl chr13:85,097,899...85,100,093
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G |
F11r |
F11 receptor |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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G |
Fcer1a |
Fc epsilon receptor Ia |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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G |
Fcer1g |
Fc epsilon receptor Ig |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,649,447...83,654,248
Ensembl chr13:83,649,449...83,671,443
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Fcrl6 |
Fc receptor-like 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,062,709...85,072,308
Ensembl chr13:85,066,694...85,072,600
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G |
Fcrla |
Fc receptor-like A |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762
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G |
Fcrlb |
Fc receptor-like B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957
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G |
Hspa6l-ps1 |
heat shock protein family A (Hsp70) member 6 like, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,273,176...83,274,317
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G |
Igsf8 |
immunoglobulin superfamily, member 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
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G |
Igsf9 |
immunoglobulin superfamily, member 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,948,643...84,965,616
Ensembl chr13:84,948,619...84,965,607
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G |
Itln1 |
intelectin 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Kcnj9 |
potassium inwardly-rectifying channel, subfamily J, member 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
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G |
Klhdc9 |
kelch domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,790,390...83,794,080
Ensembl chr13:83,790,269...83,793,354
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G |
Ly9 |
lymphocyte antigen 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,079,345...84,100,783
Ensembl chr13:84,079,458...84,100,823
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G |
Mnda |
myeloid cell nuclear differentiation antigen |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,017,888...86,035,556
Ensembl chr13:86,017,892...86,034,201
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G |
Mpz |
myelin protein zero |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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G |
Ncstn |
nicastrin |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Ndufs2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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G |
Nectin4 |
nectin cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
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G |
Nhlh1 |
nescient helix loop helix 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,517,347...84,522,548
Ensembl chr13:84,517,289...84,525,094
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G |
Nit1 |
nitrilase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,769,888...83,773,324
Ensembl chr13:83,765,941...83,773,332
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G |
Nlrp12 |
NLR family, pyrin domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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G |
Nos1ap |
nitric oxide synthase 1 adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949
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G |
Nr1i3 |
nuclear receptor subfamily 1, group I, member 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
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G |
Olfml2b |
olfactomedin-like 2B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,869,414...82,906,607
Ensembl chr13:82,869,433...82,906,607
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G |
Or10j2 |
olfactory receptor family 10 subfamily J member 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,723,300...85,724,290
Ensembl chr13:85,719,234...85,724,767
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G |
Or10j3 |
olfactory receptor family 10 subfamily J member 3 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,667,254...85,668,195
Ensembl chr13:85,662,666...85,669,540
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G |
Or10j5 |
olfactory receptor family 10 subfamily J member 5 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,430,655...85,431,584
Ensembl chr13:85,424,254...85,432,107
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G |
Or6k2 |
olfactory receptor family 6 subfamily K member 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,186,442...86,190,391
Ensembl chr13:86,185,529...86,190,815
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G |
Or6k4 |
olfactory receptor family 6 subfamily K member 14B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,164,244...86,165,191
Ensembl chr13:86,160,158...86,166,214
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G |
Or6k6 |
olfactory receptor family 6 subfamily K member 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,148,402...86,149,325
Ensembl chr13:86,147,303...86,152,153
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G |
Or6n1 |
olfactory receptor family 6 subfamily N member 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,106,912...86,107,850
Ensembl chr13:86,102,080...86,108,363
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G |
Or6n2 |
olfactory receptor family 6 subfamily N member 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,076,857...86,087,100
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G |
Pcp4l1 |
Purkinje cell protein 4-like 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,588,992...83,612,631
Ensembl chr13:83,588,992...83,609,966
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G |
Pea15 |
proliferation and apoptosis adaptor protein 15 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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G |
Pfdn2 |
prefoldin subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,772,301...83,791,367
Ensembl chr13:83,753,877...83,790,504
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G |
Pigm |
phosphatidylinositol glycan anchor biosynthesis, class M |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381
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G |
Ppox |
protoporphyrinogen oxidase |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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G |
Sh2d1b |
SH2 domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,485,076...82,519,401
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G |
Slamf1 |
signaling lymphocytic activation molecule family member 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,270,316...84,305,497
Ensembl chr13:84,270,316...84,305,497
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G |
Slamf6 |
SLAM family member 6 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,384,561...84,405,300
Ensembl chr13:84,383,742...84,405,300
|
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G |
Slamf7 |
SLAM family member 7 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,135,656...84,154,528
Ensembl chr13:84,136,899...84,154,105
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G |
Slamf8 |
SLAM family member 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,047,729...85,057,571
Ensembl chr13:85,047,727...85,057,211
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G |
Slamf9 |
SLAM family member 9 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,941,896...84,944,749
Ensembl chr13:84,941,982...84,944,748
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G |
Spata46 |
spermatogenesis associated 46 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,541,183...82,544,808
Ensembl chr13:82,541,183...82,544,808
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G |
Spta1 |
spectrin, alpha, erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
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G |
Tagln2 |
transgelin 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972
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G |
Tomm40l |
translocase of outer mitochondrial membrane 40 like |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,636,692...83,641,654
Ensembl chr13:83,638,195...83,641,654
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|
G |
Tstd1 |
thiosulfate sulfurtransferase like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,853,421...83,854,875
Ensembl chr13:83,822,035...83,854,885
|
|
G |
Uap1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469
|
|
G |
Ufc1 |
ubiquitin-fold modifier conjugating enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,709,329...83,719,762
Ensembl chr13:83,709,330...83,716,076
|
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G |
Uhmk1 |
U2AF homology motif kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,396,646...82,416,292
Ensembl chr13:82,401,187...82,416,292
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|
G |
Usf1 |
upstream transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
|
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G |
Usp21 |
ubiquitin specific peptidase 21 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,702,672...83,709,215
Ensembl chr13:83,702,631...83,708,717
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G |
Vangl2 |
VANGL planar cell polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378
|
|
G |
Vsig8 |
V-set and immunoglobulin domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,023,177...85,031,364
Ensembl chr13:85,023,177...85,031,364
|
|
|
G |
Ace |
angiotensin I converting enzyme |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10194187 |
|
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
|
|
G |
Btnl2 |
butyrophilin-like 2 |
susceptibility |
ISO |
DNA:SNP: :rs3117099(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17927685 PMID:17927685 |
RGD:9685029 |
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
disease_progression |
ISO |
DNA:polymorphisms:5' utr:multiple (human) |
RGD |
PMID:20075058 |
RGD:4892065 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd28 |
Cd28 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12952926 |
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NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Gclm |
glutamate cysteine ligase, modifier subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16766924 |
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NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
protein:increased activity:sputum |
RGD |
PMID:19453654 |
RGD:4145349 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8977230 |
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NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8428540 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16272364 PMID:17927685 |
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NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8105536 PMID:11551429 PMID:14662898 PMID:15273960 PMID:17927685 PMID:17956852 More...
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NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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G |
Tgfb1 |
transforming growth factor, beta 1 |
severity |
ISO |
DNA:polymorphisms: :-509C>T (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15750822 PMID:17785866 PMID:17785866 |
RGD:4145294 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15881280 |
RGD:5131172 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Ace |
angiotensin I converting enzyme |
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IMP |
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RGD |
PMID:17097496 |
RGD:4140933 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adora2a |
adenosine A2a receptor |
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ISO |
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RGD |
PMID:19766783 |
RGD:4890362 |
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
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RGD |
PMID:18785972 |
RGD:4145604 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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IMP |
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RGD |
PMID:14611812 |
RGD:2307195 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
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ISO |
|
RGD |
PMID:20628341 |
RGD:4891471 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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IEP IMP |
mRNA:increased expression:lung (rat) |
RGD |
PMID:19840961 PMID:14611812 |
RGD:4889978, RGD:2307195 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
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IEP |
protein:increased expression:bronchoalveolar Lavage fluid |
RGD |
PMID:22215510 |
RGD:6483763 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA:increased expression:trachea: |
RGD |
PMID:11518728 |
RGD:4145124 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Cd86 |
CD86 molecule |
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IMP |
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RGD |
PMID:11266944 |
RGD:2307206 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Csf2 |
colony stimulating factor 2 |
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IEP |
associated with Respiratory Aspiration;protein:increased expression:serum |
RGD |
PMID:18557728 |
RGD:2317286 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:16709871 PMID:12097412 PMID:12097412 |
RGD:5135441, RGD:5135451, RGD:5135451 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:12097412 PMID:12097412 |
RGD:5135451, RGD:5135451 |
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:16709871 PMID:12097412 PMID:12097412 |
RGD:5135441, RGD:5135451, RGD:5135451 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:16709871 PMID:12097412 |
RGD:5135441, RGD:5135451 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Edn1 |
endothelin 1 |
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ISO |
human gene in a rat model |
RGD |
PMID:9595474 |
RGD:8662402 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Foxp3 |
forkhead box P3 |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:19840961 |
RGD:4889978 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gzmb |
granzyme B |
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ISO |
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RGD |
PMID:19737140 |
RGD:5135518 |
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
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RGD |
PMID:12973103 |
RGD:4145412 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16137903 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il13 |
interleukin 13 |
|
ISO |
protein:increased expression:bronchoalveolar lavage fluid |
RGD |
PMID:17182591 |
RGD:4146242 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
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ISO |
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RGD |
PMID:17182591 |
RGD:4146242 |
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
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ISO |
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RGD |
PMID:17182591 |
RGD:4146242 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il17a |
interleukin 17A |
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ISO |
mRNA:increased expression:trachea |
RGD |
PMID:20393404 |
RGD:4143277 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11889437 |
RGD:4143176 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il4 |
interleukin 4 |
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IEP |
protein:increased expression:serum |
RGD |
PMID:18557728 |
RGD:2317286 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
|
ISO |
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RGD |
PMID:20393404 |
RGD:4143277 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Mbl2 |
mannose binding lectin 2 |
resistance |
ISO |
DNA:transversion:5' utr:-290C>G rs7096206 (human) |
RGD |
PMID:19104434 |
RGD:4889456 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression, increased activity:bronchoalveolar lavage fluid |
RGD |
PMID:20417130 |
RGD:5130759 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:16969297 |
RGD:5131273 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
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RGD |
PMID:18158963 |
RGD:5131450 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
associated with lung transplantation; protein:increased expression:lung |
RGD |
PMID:11112135 |
RGD:4892082 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:15136885 |
RGD:4892068 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO |
associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage |
RGD |
PMID:11981419 |
RGD:5147386 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Sftpd |
surfactant protein D |
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ISO |
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RGD |
PMID:18347569 |
RGD:4143500 |
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human) |
RGD |
PMID:20227302 |
RGD:5130722 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
protein:increased expression:lung, macrophage (human) |
RGD |
PMID:21144722 |
RGD:5131112 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
protein:increased expression:lung, lymphocyte (human) |
RGD |
PMID:21144722 |
RGD:5131112 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Sftpc |
surfactant protein C |
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ISS |
OMIM:263000 |
MouseDO |
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NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
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...
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:19218674 |
RGD:4140920 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased secretion:lung, secretion (mouse) mRNA:increased expression:lung:bronchoalveolar lavage cell (human) |
RGD |
PMID:16387809 PMID:10384061 |
RGD:4891434, RGD:4891436 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
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ISO |
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RGD |
PMID:20027288 |
RGD:5130978 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
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RGD |
PMID:19842835 |
RGD:4145620 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Cd86 |
CD86 molecule |
|
ISO |
associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse) |
RGD |
PMID:19282343 |
RGD:4892294 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
mRNA:increased expression:alveolar macrophage |
RGD |
PMID:14991597 PMID:15725351 |
RGD:5135448, RGD:5135490 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
|
ISO |
|
RGD |
PMID:14991597 |
RGD:5135448 |
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
mRNA:increased expression:alveolar macrophage |
RGD |
PMID:14991597 PMID:15725351 |
RGD:5135448, RGD:5135490 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:14991597 PMID:19842835 |
RGD:5135448, RGD:4145620 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
mRNA:decreased expression:leukocyte |
RGD |
PMID:20514434 |
RGD:4892076 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Il13 |
interleukin 13 |
|
IMP ISO |
mRNA:increased expression:lung |
RGD |
PMID:9916735 PMID:20861649 |
RGD:4145650, RGD:5128548 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il17a |
interleukin 17A |
|
ISO |
associated with Silicosis |
RGD |
PMID:20421647 PMID:19151189 |
RGD:4888525, RGD:4889106 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il17ra |
interleukin 17 receptor A |
|
ISO |
|
RGD |
PMID:19414809 |
RGD:5144217 |
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
protein:increased expression:Bronchoalveolar Lavage Fluid |
RGD |
PMID:10882225 |
RGD:4142832 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
disease_progression |
ISO IMP |
protein:increased expression:serum (human) |
RGD |
PMID:19556641 PMID:1519663 |
RGD:4142842, RGD:7401229 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il5 |
interleukin 5 |
|
ISO |
protein:increased expression:lung,respiratory system fluid/secretion |
RGD |
PMID:19151189 |
RGD:4889106 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11789718 |
RGD:4891449 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Sftpa1 |
surfactant protein A1 |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:10543276 |
RGD:4143437 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10673208 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:polymorphisms:cds:P. D637G, P661P (human) |
RGD |
PMID:18342853 |
RGD:5147840 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
Tlr6 |
toll-like receptor 6 |
|
ISO |
|
RGD |
PMID:20070409 |
RGD:4889532 |
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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G |
Tnc |
tenascin C |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:9780295 |
RGD:4889595 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:Bronchoalveolar Lavage Fluid |
RGD |
PMID:10882225 PMID:15653992 |
RGD:4142832, RGD:4143466 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
protein:increased expression:alveolar macrophage (human) |
RGD |
PMID:15929959 |
RGD:5131148 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
protein:increased expression:alveolar macrophage (human) |
RGD |
PMID:15929959 |
RGD:5131148 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:15764076 |
RGD:5684419 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Il12b |
interleukin 12B |
|
ISO |
|
RGD |
PMID:12084045 |
RGD:4145430 |
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased secretion:macrophage DNA:polymorphism:promoter |
RGD |
PMID:8466130 PMID:11179110 |
RGD:4143375, RGD:4143374 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
protein:increased expression:nasal cavity epithelium protein:increased expression:blood, T cell |
RGD |
PMID:11529927 PMID:12716450 |
RGD:4145634, RGD:6893409 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) |
RGD |
PMID:12858455 |
RGD:4892114 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd36 |
CD36 molecule |
|
ISO |
|
RGD |
PMID:21412229 |
RGD:6893495 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:21411717 |
RGD:5490596 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) |
RGD |
PMID:12022356 |
RGD:7204724 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Fcar |
Fc alpha receptor |
|
ISO |
|
RGD |
PMID:22147912 |
RGD:7242064 |
NCBI chr 1:69,626,458...69,660,558
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Igf1 |
insulin-like growth factor 1 |
|
ISO |
protein:increased expression:nasal cavity mucosa, blood vessel: |
RGD |
PMID:2772560 |
RGD:8548880 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Il10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:11838849 |
RGD:1580480 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Prtn3 |
proteinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25288799 |
|
NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
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G |
Thbd |
thrombomodulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20156770 |
RGD:5684985 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Vtn |
vitronectin |
|
ISO |
|
RGD |
PMID:12126637 |
RGD:1580817 |
NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
associated with Scleroderma, Diffuse protein:increased expression:serum |
RGD |
PMID:18432520 PMID:16085216 |
RGD:5135258, RGD:5135260 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:increased expression:lung, alveolar macrophage (human) |
RGD |
PMID:19218648 |
RGD:4145518 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Il6 |
interleukin 6 |
|
IEP |
protein:increased expression:bronchoalveolar lavage (rat) |
RGD |
PMID:10988147 |
RGD:11062092 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
protein:increased expression:hyperplastic lung epithelium, alveolus (human) |
RGD |
PMID:20718723 |
RGD:6893300 |
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:21444868 |
RGD:7245946 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15467329 |
RGD:5144148 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia |
ClinVar |
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
mRNA:increased expression:blood plasma (human) |
RGD |
PMID:31874165 |
RGD:152995482 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
protein: decreased expression: respiratory system fluid/secretion |
RGD |
PMID:20463180 |
RGD:5508222 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Atp11a |
ATPase phospholipid transporting 11A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583980 |
|
NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
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G |
Bmp1 |
bone morphogenetic protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
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G |
Brd4 |
bromodomain containing 4 |
|
ISO |
|
RGD |
PMID:23759512 |
RGD:9586353 |
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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G |
Ccl12 |
C-C motif chemokine ligand 12 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28434932 |
|
NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
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G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
|
ISO |
mRNA,protein:increased expression:lung myofibroblast: |
RGD |
PMID:22582174 |
RGD:11341695 |
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
DNA:polymorphism:promoter:-156G>C (human) protein:increased expression:lung, macrophage, type II pneumocyte |
RGD |
PMID:20137269 PMID:11751193 |
RGD:5135241, RGD:5135250 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Ddr1 |
discoidin domain receptor tyrosine kinase 1 |
treatment |
ISO IMP |
mRNA:increased expression:lung (human) |
RGD |
PMID:30119248 PMID:30119248 |
RGD:151347411, RGD:151347411 |
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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G |
Dpp9 |
dipeptidyl peptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583980 |
|
NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541
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G |
Dsp |
desmoplakin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia |
CTD ClinVar |
PMID:23583980 |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
|
ISO |
|
RGD |
PMID:24652950 |
RGD:9589169 |
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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G |
Ep300 |
E1A binding protein p300 |
treatment |
ISO IMP |
mRNA:increased expression:lung (human) |
RGD |
PMID:30119248 PMID:30119248 |
RGD:151347411, RGD:151347411 |
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30165855 |
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NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:10946084 |
RGD:11060143 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
Fam13a |
family with sequence similarity 13, member A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia |
CTD ClinVar |
PMID:23583980 |
|
NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
|
RGD |
PMID:15148335 |
RGD:11049166 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
|
ISO |
|
RGD |
PMID:15148335 |
RGD:11049166 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
protein:increased expression:lung (human) |
RGD |
PMID:29722558 |
RGD:155791445 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
|
ISS |
OMIM:178500 |
MouseDO |
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NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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G |
Gper1 |
G protein-coupled estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30165855 |
|
NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28434932 |
|
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:14555548 |
RGD:5144236 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
ISO |
|
RGD |
PMID:21309737 |
RGD:5147438 |
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Mir184 |
microRNA 184 |
|
ISO |
RNA:decreased expression:blood plasma (human) |
RGD |
PMID:31874165 |
RGD:152995482 |
NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
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G |
Mir31 |
microRNA 31 |
|
ISO |
RNA:increased expression:blood plasma (human) |
RGD |
PMID:31874165 |
RGD:152995482 |
NCBI chr 5:103,599,038...103,599,143
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:lung,bronchoalveolar lavage fluid: |
RGD |
PMID:18447576 |
RGD:4890373 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
mRNA, protein:increased expression:lung CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:28434932 PMID:21871427 |
RGD:8694097 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:22963039 |
RGD:7244290 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia |
OMIM CTD ClinVar |
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 PMID:23695349 PMID:23940607 PMID:24033266 PMID:25926289 PMID:30345907 More...
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NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:21330466 |
RGD:5684550 |
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Parn |
poly(A)-specific ribonuclease |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25848748 |
|
NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
mRNA,protein:increased expression, increased activity:fibroblast |
RGD |
PMID:23260200 |
RGD:10413908 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18491991 |
|
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
DNA:SNPs: :3050G>C, 8473C>T (human) protein:decreased expression:lung: |
RGD |
PMID:21319594 PMID:14511257 PMID:20203246 |
RGD:5135280, RGD:5135507, RGD:5135461 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:21373184 |
RGD:5147566 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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|
G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia |
CTD ClinVar |
PMID:25607374 PMID:25741868 PMID:25848748 PMID:28492532 |
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
exacerbates |
ISO |
associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) |
RGD |
PMID:33533494 |
RGD:150429642 |
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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G |
Sftpa1 |
surfactant protein A1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to |
ClinVar |
PMID:13680361 PMID:24033266 PMID:25741868 |
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NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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G |
Sftpc |
surfactant protein C |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia |
CTD ClinVar |
PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 PMID:19443464 PMID:19910179 PMID:22308375 PMID:23775869 PMID:24033266 PMID:24081995 PMID:24347114 PMID:25657025 PMID:25741868 PMID:27362365 PMID:28492532 PMID:33526882 More...
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NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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G |
Smad2 |
SMAD family member 2 |
|
ISO |
mRNA:increased expression:blood plasma (human) |
RGD |
PMID:31874165 |
RGD:152995482 |
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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G |
Smad6 |
SMAD family member 6 |
|
ISO |
mRNA:decreased expression:blood plasma (human) |
RGD |
PMID:31874165 |
RGD:152995482 |
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26599507 |
|
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30481203 PMID:22684844 |
RGD:6892915 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Stn1 |
STN1 subunit of CST complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583980 |
|
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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G |
Terc |
telomerase RNA component |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17392301 PMID:17460043 PMID:23535734 |
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NCBI chr 2:112,815,654...112,816,041
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
DNA:deletion, missense mutations, splice-site mutations:multiple ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17392301 PMID:17460043 PMID:17576681 PMID:18460650 PMID:18635888 PMID:19561322 PMID:19674077 PMID:19760749 PMID:20301779 PMID:20502709 PMID:21436073 PMID:21520174 PMID:22853774 PMID:23535734 PMID:23538340 PMID:23583980 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24833766 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:27192671 PMID:27848944 PMID:28104920 PMID:28492532 PMID:29036293 PMID:29483670 PMID:30203795 PMID:30426156 PMID:30523342 PMID:31268371 PMID:34019641 PMID:34890115 PMID:35776903 PMID:17392301 More...
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RGD:11038666 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tfpi |
tissue factor pathway inhibitor |
severity |
ISO |
protein:increased expression:Bronchoalveolar lavage,epithelial cell: |
RGD |
PMID:10946084 |
RGD:11060143 |
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Thbd |
thrombomodulin |
severity |
ISO |
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RGD |
PMID:20418386 |
RGD:5685036 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tnf |
tumor necrosis factor |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:178500 |
CTD MouseDO |
PMID:8473757 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tollip |
toll interacting protein |
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ISO |
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia |
ClinVar |
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NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
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Wnt5a |
Wnt family member 5A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28726637 |
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NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234
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Agap2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
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Apof |
apolipoprotein F |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:700,688...702,130
Ensembl chr 7:700,762...701,946
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Arhgap9 |
Rho GTPase activating protein 9 |
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ISO |
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 |
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NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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Arhgef25 |
Rho guanine nucleotide exchange factor 25 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719
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Atp5f1b |
ATP synthase F1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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B4galnt1 |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
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Baz2a |
bromodomain adjacent to zinc finger domain, 2A |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:523,204...560,911
Ensembl chr 7:523,265...560,659
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Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Dctn2 |
dynactin subunit 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543
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Ddit3 |
DNA-damage inducible transcript 3 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Dtx3 |
deltex E3 ubiquitin ligase 3 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,013,769...63,018,431
Ensembl chr 7:63,013,371...63,018,522
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Eef1akmt3 |
EEF1A lysine methyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,853,304...62,864,558
Ensembl chr 7:62,854,899...62,864,617
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Farsb |
phenylalanyl-tRNA synthetase subunit beta |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:29573043 |
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NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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Gli1 |
GLI family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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Gls2 |
glutaminase 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426
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Gpr182 |
G protein-coupled receptor 182 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210
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Hsd17b6 |
hydroxysteroid (17-beta) dehydrogenase 6 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:422,466...442,008
Ensembl chr 7:422,480...442,425
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Il23a |
interleukin 23 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Inhbc |
inhibin subunit beta C |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630
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Inhbe |
inhibin subunit beta E |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172
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Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Lrp1 |
LDL receptor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Marchf9 |
membrane associated ring-CH-type finger 9 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,879,017...62,882,495
Ensembl chr 7:62,879,018...62,882,495
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Mars1 |
methionyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND |
OMIM ClinVar |
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...
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NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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Mbd6 |
methyl-CpG binding domain protein 6 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274
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Mettl1 |
methyltransferase 1, tRNA methylguanosine |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,864,860...62,869,202
Ensembl chr 7:62,864,853...62,869,202
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Mip |
major intrinsic protein of lens fiber |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400
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Myo1a |
myosin IA |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944
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G |
Nab2 |
Ngfi-A binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,497,589...63,504,105
Ensembl chr 7:63,497,589...63,503,989
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Naca |
nascent polypeptide associated complex subunit alpha |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:468,862...481,992
Ensembl chr 7:469,723...481,992
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G |
Ndufa4l2 |
NDUFA4, mitochondrial complex associated like 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010
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G |
Nemp1 |
nuclear envelope integral membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,514,025...63,538,791
Ensembl chr 7:63,479,951...63,534,602
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G |
Nxph4 |
neurexophilin 4 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,367,758...63,376,579
Ensembl chr 7:63,367,761...63,376,579
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G |
Os9 |
OS9, endoplasmic reticulum lectin |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,915,498...62,957,591
Ensembl chr 7:62,915,515...62,943,745
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Pan2 |
poly(A) specific ribonuclease subunit PAN2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744
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G |
Pip4k2c |
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078
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G |
Prim1 |
DNA primase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526
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G |
Ptges3 |
prostaglandin E synthase 3 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
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G |
R3hdm2 |
R3H domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
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G |
Rbms2 |
RNA binding motif, single stranded interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:560,787...603,881
Ensembl chr 7:560,648...600,232
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Rdh16 |
retinol dehydrogenase 16 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,616,711...63,625,053
Ensembl chr 7:63,597,536...63,624,124
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Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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Shmt2 |
serine hydroxymethyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236
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Spryd4 |
SPRY domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:633,400...637,564
Ensembl chr 7:633,394...637,557
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Stac3 |
SH3 and cysteine rich domain 3 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
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Stat2 |
signal transducer and activator of transcription 2 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Tac3 |
tachykinin precursor 3 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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Timeless |
timeless circadian regulator |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:654,804...678,769
Ensembl chr 7:654,822...678,738
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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G |
Tspan31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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G |
Zbtb39 |
zinc finger and BTB domain containing 39 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung and liver disease |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,576,998...63,584,549
Ensembl chr 7:63,576,917...63,589,210
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Sftpa1 |
surfactant protein A1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 1 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26792177 PMID:30854216 PMID:31601679 PMID:32855221 More...
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NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
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...
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Ahrr |
aryl-hydrocarbon receptor repressor |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673
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G |
Bmp1 |
bone morphogenetic protein 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
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G |
Brd9 |
bromodomain containing 9 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016
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G |
Cep72 |
centrosomal protein 72 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Dtnbp1 |
dystrobrevin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
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NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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G |
Exoc3 |
exocyst complex component 3 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045
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G |
Fam13a |
family with sequence similarity 13, member A |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
|
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NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
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G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
|
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NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:16199547 PMID:19494218 PMID:21792839 PMID:22940634 PMID:26100510 PMID:28492532 More...
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Lama3 |
laminin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
|
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NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
|
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NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp19 |
matrix metallopeptidase 19 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
|
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NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
susceptibility |
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar OMIM |
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23692170 PMID:23695349 PMID:23940607 PMID:24033266 PMID:25741868 PMID:25926289 PMID:28492532 PMID:30345907 More...
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NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Nkd2 |
NKD inhibitor of WNT signaling pathway 2 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821
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G |
Nkx2-1 |
NK2 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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G |
Pdcd6 |
programmed cell death 6 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
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...
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Rtkn2 |
rhotekin 2 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
|
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NCBI chr20:20,536,628...20,609,951
Ensembl chr20:20,525,256...20,609,951
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
Sftpa1 |
surfactant protein A1 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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G |
Sftpc |
surfactant protein C |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
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...
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NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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G |
Slc12a7 |
solute carrier family 12 member 7 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302
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G |
Slc6a18 |
solute carrier family 6 member 18 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
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G |
Slc6a19 |
solute carrier family 6 member 19 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
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G |
Slc9a3 |
solute carrier family 9 member A3 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
|
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
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G |
Terc |
telomerase RNA component |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:17392301 |
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NCBI chr 2:112,815,654...112,816,041
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:15814878 PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 PMID:18460650 PMID:19561322 PMID:19760749 PMID:20022961 PMID:20301779 PMID:20502709 PMID:21436073 PMID:22364217 PMID:22853774 PMID:22863003 PMID:23901009 PMID:24033266 PMID:24833766 PMID:25271372 PMID:25365545 PMID:25741868 PMID:26024875 PMID:26136524 PMID:26365799 PMID:27540018 PMID:28102861 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29036293 PMID:29483670 PMID:30115091 PMID:30523342 PMID:31268371 PMID:34019641 PMID:35083318 PMID:35776903 PMID:36622818 More...
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NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Tollip |
toll interacting protein |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
|
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NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
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G |
Tppp |
tubulin polymerization promoting protein |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
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NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134
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G |
Trip13 |
thyroid hormone receptor interactor 13 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
|
NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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G |
Zdhhc11 |
zinc finger, DHHC-type containing 11 |
|
ISO |
ClinVar Annotator: match by term: Interstitial lung disease 2 |
ClinVar |
PMID:12629597 PMID:28492532 |
|
NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898
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G |
Itga3 |
integrin subunit alpha 3 |
|
ISO |
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 |
OMIM ClinVar |
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 PMID:28492532 PMID:29127259 More...
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NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISS |
OMIM:246400 | OMIM:604856 |
MouseDO |
|
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Acan |
aggrecan |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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G |
Arhgap22 |
Rho GTPase activating protein 22 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr16:8,473,806...8,631,552
Ensembl chr16:8,476,306...8,631,548
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G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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G |
Atr |
ATR serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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G |
Car1 |
carbonic anhydrase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208
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G |
Car3 |
carbonic anhydrase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280
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G |
Cat |
catalase |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:19273541 |
RGD:5130756 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccdc180 |
coiled-coil domain containing 180 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr 5:60,154,883...60,223,508
Ensembl chr 5:60,154,910...60,223,522
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G |
Cdh23 |
cadherin-related 23 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G |
Enoph1 |
enolase-phosphatase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr14:9,531,336...9,557,797
Ensembl chr14:9,531,339...9,569,273
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G |
Ephb4 |
EPH receptor B4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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G |
Fcho1 |
FCH and mu domain containing endocytic adaptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr16:18,413,452...18,430,795
Ensembl chr16:18,413,363...18,435,104
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G |
H3f4 |
H3.4 histone, cluster member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr10:43,740,702...43,741,262
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G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
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G |
Il27ra |
interleukin 27 receptor subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
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G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21857939 |
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NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Lrrc29 |
leucine rich repeat containing 29 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545
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G |
Mdm4 |
MDM4 regulator of p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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G |
Nup35 |
nucleoporin 35 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr 3:65,555,203...65,594,488
Ensembl chr 3:65,558,968...65,585,130
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G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr 5:165,462,610...165,465,213
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G |
Psmb9 |
proteasome 20S subunit beta 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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G |
Ptprz1 |
protein tyrosine phosphatase, receptor type Z1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human) |
RGD |
PMID:16188098 |
RGD:7421557 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Spns1 |
SPNS lysolipid transporter 1, lysophospholipid |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506645 |
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NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Ticam1 |
TIR domain containing adaptor molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr 9:1,102,559...1,111,023
Ensembl chr 9:1,102,366...1,123,147
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G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25445010 |
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NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26780485 |
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Ace |
angiotensin I converting enzyme |
|
IMP ISO IEP |
associated with Hypertension CTD Direct Evidence: therapeutic associated with Radiation Pneumonitis associated with Lung Injury associated with Lung Injury;protein:decreased expression:lung |
CTD RGD |
PMID:33007385 PMID:17506718 PMID:17506716 PMID:20651228 PMID:20581171 |
RGD:4140923, RGD:4140925, RGD:4140478, RGD:4140483 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Ace2 |
angiotensin converting enzyme 2 |
|
ISO |
associated with Lung Injury;protein:decreased expression:lung CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:27550926 PMID:33007385 PMID:20581171 |
RGD:4140483 |
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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G |
Acta2 |
actin alpha 2, smooth muscle |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30639579 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25945502 |
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NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO IEP |
mRNA:decreased expression:lung (human) mRNA, protein:decreased expression:lung |
RGD |
PMID:22669512 PMID:24226635 |
RGD:7245533, RGD:8695997 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
treatment |
IMP ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:28960804 PMID:31181250 PMID:24168260 |
RGD:11039408 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
|
RGD |
PMID:18500976 |
RGD:5147454 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Agtr2 |
angiotensin II receptor, type 2 |
|
ISO |
|
RGD |
PMID:18500976 |
RGD:5147454 |
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Alox5 |
arachidonate 5-lipoxygenase |
|
ISO |
protein:altered localization:alveolar macrophage, nuclear membrane |
RGD |
PMID:8621765 |
RGD:4890430 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Anxa1 |
annexin A1 |
|
IEP |
protein:decreased expression:lung |
RGD |
PMID:9269316 |
RGD:2306948 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
|
ISO |
|
RGD |
PMID:12125811 |
RGD:1578409 |
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
protein:decreased expression: respiratory system fluid/secretion |
RGD |
PMID:20463180 |
RGD:5508222 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Areg |
amphiregulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26817844 |
|
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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G |
B3gat1 |
beta-1,3-glucuronyltransferase 1 |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:24127863 |
RGD:14390076 |
NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
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|
G |
Bad |
BCL2-associated agonist of cell death |
|
IEP |
|
RGD |
PMID:18198484 |
RGD:2292680 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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|
G |
Bdkrb1 |
bradykinin receptor B1 |
|
ISO |
|
RGD |
PMID:20451601 |
RGD:5129229 |
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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|
G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO |
protein:increased expression:sputum |
RGD |
PMID:12917229 |
RGD:4891121 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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|
G |
Bmp7 |
bone morphogenetic protein 7 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17975199 PMID:25733726 |
|
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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G |
Brd4 |
bromodomain containing 4 |
treatment |
ISO |
|
RGD |
PMID:23759512 |
RGD:9586353 |
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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G |
Calca |
calcitonin-related polypeptide alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17365031 |
|
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Calr |
calreticulin |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:18563736 |
RGD:2326172 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Cat |
catalase |
|
ISO |
mRNA, protein:decreased expression:lung CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:19684199 PMID:21190578 |
RGD:5130199 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Cav1 |
caveolin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36053221 PMID:18759267 |
RGD:8661773 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16314464 PMID:17620002 PMID:17620002 PMID:16314464 |
RGD:4145458, RGD:4145395 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
IEP ISO |
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15993846 PMID:19715610 |
RGD:2306304, RGD:4145488 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:17717200 |
RGD:5130910 |
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:lung, eosinophil (rat) |
CTD RGD |
PMID:16324872 PMID:17720292 PMID:26163174 PMID:20833968 PMID:7525714 |
RGD:4145112, RGD:8549730 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl21 |
C-C motif chemokine ligand 21 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:17717200 |
RGD:5130910 |
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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|
G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
IEP ISO |
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15993846 PMID:19715610 |
RGD:2306304, RGD:4145488 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16324872 PMID:17720292 |
|
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17720292 |
|
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:lung (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17620002 PMID:20833968 |
RGD:4145112 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccn2 |
cellular communication network factor 2 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844 PMID:19154443 |
RGD:2314537 |
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14609568 PMID:15743780 |
RGD:4145065 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
associated with Lung Injury CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16314464 PMID:16314464 |
RGD:4145395 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
protein:decreased expression:lung, lymphocyte (human) mRNA:increased expression:lung (mouse) |
RGD |
PMID:15802346 PMID:19762220 |
RGD:4892101, RGD:4145622 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Ccr8 |
C-C motif chemokine receptor 8 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629
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G |
Cd28 |
Cd28 molecule |
|
ISO |
|
RGD |
PMID:20395561 |
RGD:4892281 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cd36 |
CD36 molecule |
severity |
IMP ISO |
associated with Silicosis |
RGD |
PMID:19439069 PMID:20056742 |
RGD:2307220, RGD:6893557 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd86 |
CD86 molecule |
|
ISO |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:20395561 |
RGD:4892281 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cdh1 |
cadherin 1 |
|
IEP ISO |
|
RGD |
PMID:20495078 PMID:16924102 |
RGD:5132892, RGD:5132890 |
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29078374 |
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NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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G |
Cebpb |
CCAAT/enhancer binding protein beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17177178 |
|
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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G |
Cfd |
complement factor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22832039 |
|
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
|
ISO |
mRNA,protein:increased expression:lung myofibroblast: |
RGD |
PMID:22582174 |
RGD:11341695 |
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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|
G |
Chi3l1 |
chitinase 3 like 1 |
severity |
ISO |
protein:increased secretion:serum, lung (human) |
RGD |
PMID:20888745 |
RGD:4892653 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
|
ISO |
|
RGD |
PMID:18480105 |
RGD:5133440 |
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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G |
Cma1 |
chymase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15297733 |
|
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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|
G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
IEP ISO |
associated with Middle East respiratory syndrome; |
RGD |
PMID:7511187 PMID:31838832 PMID:17579094 |
RGD:7257543, RGD:30309204, RGD:11041177 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
|
IEP |
|
RGD |
PMID:7511187 |
RGD:7257543 |
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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|
G |
Col3a1 |
collagen type III alpha 1 chain |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism associated with Middle East respiratory syndrome; |
CTD RGD |
PMID:26817844 PMID:31838832 |
RGD:30309204 |
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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|
G |
Csf2 |
colony stimulating factor 2 |
|
IEP ISO |
mRNA:increased expression:lung: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17894541 PMID:9881949 |
RGD:10449530 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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|
G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17894541 |
|
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16324872 |
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NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:18836137 |
RGD:5134989 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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|
G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
associated with Lung Injury |
RGD |
PMID:15254596 |
RGD:5135446 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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|
G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO IEP |
associated with Pneumonia mRNA:increased expression:lung |
RGD |
PMID:14970333 PMID:20959046 |
RGD:4847792, RGD:4781441 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15328359 PMID:20497024 PMID:15328359 |
RGD:4781445, RGD:5143997 |
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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G |
Defb1 |
defensin beta 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17000097 |
RGD:4892262 |
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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G |
Defb4 |
defensin beta 4 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17000097 |
RGD:4892262 |
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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G |
Defb5 |
defensin beta 5 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17000097 |
RGD:4892262 |
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar |
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|
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|
G |
Dnm1l |
dynamin 1-like |
|
IEP ISO |
mRNA,protein:increased expression:lung,mitochondrion |
RGD |
PMID:25284615 PMID:25284615 |
RGD:35673291, RGD:35673291 |
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Dsp |
desmoplakin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28166215 |
|
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Edn1 |
endothelin 1 |
|
IEP ISO |
protein:increased expression:lung, airway epithelium, leukocyte (rat) CTD Direct Evidence: marker/mechanism Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human) associated with Scleroderma, Systemic; protein:increased expression:lung (human) |
CTD RGD |
PMID:17235729 PMID:9279246 PMID:8099638 PMID:9284832 |
RGD:4144892, RGD:4144889, RGD:4144866 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Egf |
epidermal growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17266442 |
|
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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G |
Egfr |
epidermal growth factor receptor |
|
IEP ISO |
mRNA:increased expression:lung (rat) |
RGD |
PMID:7524566 PMID:21177177 PMID:8879184 |
RGD:5131873, RGD:5131634, RGD:5131638 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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|
G |
Egr1 |
early growth response 1 |
disease_progression |
ISO |
mRNA:increased expression:lung (human) mRNA:increased expression:lung (mouse) |
RGD |
PMID:19347046 PMID:19679873 PMID:20539010 |
RGD:4144870, RGD:5131644, RGD:5131877 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Elane |
elastase, neutrophil expressed |
|
IMP |
|
RGD |
PMID:19995276 |
RGD:10450562 |
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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G |
Eln |
elastin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10761639 PMID:26817844 |
|
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
F2 |
coagulation factor II, thrombin |
|
ISO |
|
RGD |
PMID:21312187 |
RGD:5147767 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F5 |
coagulation factor V |
severity |
ISO |
|
RGD |
PMID:11307811 |
RGD:11564339 |
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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|
G |
Fam13a |
family with sequence similarity 13, member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28166215 |
|
NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
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|
G |
Fgf1 |
fibroblast growth factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16324872 |
|
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
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|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8952537 |
|
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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|
G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15677771 |
|
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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|
G |
Fn1 |
fibronectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26817844 |
|
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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|
G |
Fyn |
FYN proto-oncogene, Src family tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30658076 |
|
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
|
|
G |
Gch1 |
GTP cyclohydrolase 1 |
treatment |
IEP |
|
RGD |
PMID:23739137 |
RGD:401700390 |
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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|
G |
Grem1 |
gremlin 1, DAN family BMP antagonist |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17975199 |
|
NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
associated with Scleroderma, Systemic |
RGD |
PMID:17044913 |
RGD:4142516 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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|
G |
Habp2 |
hyaluronan binding protein 2 |
|
IEP |
|
RGD |
PMID:20818495 |
RGD:11353855 |
NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
|
|
G |
Hgf |
hepatocyte growth factor |
|
ISO |
associated with myositis;protein:increased expression:serum: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16324872 PMID:8952317 |
RGD:8548628 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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|
G |
Hmgb1 |
high mobility group box 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27616297 |
|
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15814490 |
|
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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|
G |
Hsp90ab1 |
heat shock protein 90 alpha family class B member 1 |
|
IEP |
protein:decreased expression:lung (rat) |
RGD |
PMID:24670792 |
RGD:10445835 |
NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:37307957 |
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NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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G |
Hspa1b |
heat shock protein family A (Hsp70) member 1B |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:37307957 |
|
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
|
ISO |
mRNA,protein:increased expression:lungs |
RGD |
PMID:22227563 |
RGD:5685632 |
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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IEP |
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RGD |
PMID:11746186 |
RGD:12910545 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP |
protein:increased expression:lung (rat) |
RGD |
PMID:19254480 |
RGD:4145516 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15286697 |
|
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
|
RGD |
PMID:15681824 |
RGD:1626120 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Igfbp5 |
insulin-like growth factor binding protein 5 |
|
ISO |
|
RGD |
PMID:15681824 |
RGD:1626120 |
NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156
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G |
Il12b |
interleukin 12B |
|
ISO |
protein:increased expression:lung CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12193738 PMID:18598692 PMID:20176803 |
RGD:4889581, RGD:4888529 |
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il13 |
interleukin 13 |
treatment |
ISO IEP |
idiopathic pulmonary fibrosis CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15322207 PMID:19654941 PMID:20176803 PMID:19154443 |
RGD:4145627, RGD:4888529, RGD:2314537 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il15 |
interleukin 15 |
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ISO |
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RGD |
PMID:21309737 |
RGD:5147438 |
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Il17a |
interleukin 17A |
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ISO IEP |
protein:increased expression:lung, bronchioalveolar lavage fluid (rat) |
RGD |
PMID:20176803 PMID:24721403 PMID:18338242 |
RGD:4888529, RGD:9179762, RGD:4889110 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18 |
interleukin 18 |
|
ISO |
protein:increased expression:lung idiopathic pulmonary fibrosis; protein:increased expression:lung, serum |
RGD |
PMID:18598692 PMID:15308504 |
RGD:4889581, RGD:4889841 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18r1 |
interleukin 18 receptor 1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:15308504 |
RGD:4889841 |
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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G |
Il1a |
interleukin 1 alpha |
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ISO IEP |
idiopathic pulmonary fibrosis;DNA:polymorphism:promoter: mRNA, protein:increased expression:alveolar macrophage |
RGD |
PMID:17309781 PMID:9100454 |
RGD:4142803, RGD:4142838 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
|
IEP ISO IDA |
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
disease_progression susceptibility |
ISO |
DNA:polymorphism (human) CTD Direct Evidence: therapeutic protein:increased expression:lung |
CTD RGD |
PMID:18403674 PMID:17056243 PMID:7767546 PMID:10934117 |
RGD:4142874, RGD:4143194, RGD:4143177 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4 |
interleukin 4 |
treatment |
ISO IEP |
associated with Silicosis;protein:increased expression:respiratory system fluid/secretion CTD Direct Evidence: marker/mechanism associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung |
CTD RGD |
PMID:12574379 PMID:15322207 PMID:20490462 PMID:24269241 PMID:20861649 |
RGD:5128555, RGD:10402793, RGD:5128548 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung |
CTD RGD |
PMID:17620002 PMID:14975941 PMID:17986108 |
RGD:4890954, RGD:4890942 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17266442 PMID:25216247 PMID:20846163 |
RGD:4143241 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il9 |
interleukin 9 |
|
ISO |
associated with Silicosis |
RGD |
PMID:11306428 |
RGD:5128702 |
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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IEP |
protein:increased expression:lung |
RGD |
PMID:27982686 |
RGD:155663660 |
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Kif15 |
kinesin family member 15 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar |
PMID:35417304 |
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NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
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G |
Lamb1 |
laminin subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28444932 |
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NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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G |
Lepr |
leptin receptor |
|
ISO |
associated with Diabetes Mellitus, Type 2 |
RGD |
PMID:21317313 |
RGD:5128773 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lias |
lipoic acid synthetase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:32017981 |
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NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
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G |
Mbl2 |
mannose binding lectin 2 |
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ISO |
associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human) |
RGD |
PMID:18637104 |
RGD:4889479 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21435439 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mfn2 |
mitofusin 2 |
treatment |
IEP |
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RGD |
PMID:24912636 |
RGD:13204824 |
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mir101a |
microRNA 101a |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:28726637 |
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NCBI chr 5:115,966,332...115,966,406
Ensembl chr 5:115,966,328...115,966,410
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Mir10a |
microRNA 10a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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G |
Mir122 |
microRNA 122 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr18:58,758,703...58,758,787
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Mir125a |
microRNA 125a |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30658076 |
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NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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G |
Mir140 |
microRNA 140 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:25926378 PMID:32462952 |
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NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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Mir145 |
microRNA 145 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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G |
Mir193a |
microRNA 193a |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30744607 |
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NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mir200c |
microRNA 200c |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:25926378 PMID:29113749 |
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NCBI chr 4:157,523,679...157,523,747
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Mir21 |
microRNA 21 |
treatment |
IEP |
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RGD |
PMID:29084974 |
RGD:41404715 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir223 |
microRNA 223 |
disease_progression |
IEP |
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RGD |
PMID:32329871 |
RGD:25824948 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Mir26b |
microRNA 26b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir30a |
microRNA 30a |
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ISO IEP |
CTD Direct Evidence: marker/mechanism RNA:decreased expression:lung |
CTD RGD |
PMID:25926378 PMID:25284615 |
RGD:35673291 |
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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G |
Mir326 |
microRNA 326 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
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G |
Mir345 |
microRNA 345 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr 6:127,754,027...127,754,122
Ensembl chr 6:127,754,027...127,754,122
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G |
Mir425 |
microRNA 425 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr 8:109,264,555...109,264,637
Ensembl chr 8:109,264,555...109,264,637
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G |
Mir451a |
microRNA 451a |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:34460027 |
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NCBI chr10:62,961,520...62,961,591
Ensembl chr10:62,961,520...62,961,591
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G |
Mir490 |
microRNA 490 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:33482250 |
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NCBI chr 4:65,047,548...65,047,631
Ensembl chr 4:65,047,548...65,047,631
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Mmp1 |
matrix metallopeptidase 1 |
|
IDA |
|
RGD |
PMID:22571259 |
RGD:7207277 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21468558 |
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NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
|
RGD |
PMID:21871427 |
RGD:8694097 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP ISO |
protein:increased expression:lung, plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21468558 PMID:17121240 PMID:23318412 |
RGD:1642054, RGD:13204970 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mt2A |
metallothionein 2A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18528683 |
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NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28936961 |
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NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
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IEP ISO |
mRNA, protein:increased expression:lung mRNA:increased expression:lung |
RGD |
PMID:14680076 PMID:19154443 |
RGD:5131207, RGD:2314537 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Naf1 |
nuclear assembly factor 1 ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23570914 PMID:19138753 |
RGD:6893396 |
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Ngf |
nerve growth factor |
|
ISO |
protein:increased expression:sputum |
RGD |
PMID:12917229 |
RGD:4891121 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ngfr |
nerve growth factor receptor |
|
ISO |
|
RGD |
PMID:17576803 |
RGD:5144067 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Nkx2-5 |
NK2 homeobox 5 |
|
IEP |
mRNA:decreased expression:lung, fibroblast |
RGD |
PMID:19395679 |
RGD:5131637 |
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Nos2 |
nitric oxide synthase 2 |
|
ISO |
|
RGD |
PMID:20668217 |
RGD:4891482 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Notch1 |
notch receptor 1 |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:27982686 |
RGD:155663660 |
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:21330466 |
RGD:5684550 |
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35654123 |
|
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Parn |
poly(A)-specific ribonuclease |
|
ISO |
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...
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NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27704718 PMID:23260200 |
RGD:10413908 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16324872 |
|
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15286697 PMID:21868503 PMID:22523431 |
RGD:6482756, RGD:6482831 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
IEP |
|
RGD |
PMID:9458803 |
RGD:11080970 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Plau |
plasminogen activator, urokinase |
treatment |
ISO IDA |
human protein in rat model |
RGD |
PMID:7516275 PMID:23327706 PMID:12376355 |
RGD:7241204, RGD:7241544, RGD:7241206 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Psen2 |
presenilin 2 |
|
ISO |
|
RGD |
PMID:10518543 |
RGD:1302521 |
NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IEP ISO |
associated with sarcoidosis; DNA:SNP: :-765G>C (human) |
RGD |
PMID:17825173 PMID:21681100 |
RGD:1642597, RGD:5135504 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Ptx3 |
pentraxin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22210019 |
|
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
|
ISO |
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...
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO IEP |
associated with scleroderma, systemic; protein:increased expression:serum: mRNA,protein:decreased expression:lung |
RGD |
PMID:21239758 PMID:16369113 |
RGD:5144130, RGD:5144139 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Scgb3a2 |
secretoglobin, family 3A, member 2 |
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ISO |
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RGD |
PMID:21478551 |
RGD:5144129 |
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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Serpina1 |
serpin family A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:72955 |
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NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1 |
serpin family E member 1 |
treatment |
ISO IMP IEP |
Idiopathic Pulmonary Fibrosis protein:increased activity:plasma |
RGD |
PMID:20061390 PMID:22659625 PMID:16224526 |
RGD:4143513, RGD:8547927, RGD:4144842 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sftpa1 |
surfactant protein A1 |
disease_progression susceptibility |
ISO |
mRNA:increased expression:lung DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:decreased expression:lung |
RGD |
PMID:19347046 PMID:13680361 PMID:10543276 |
RGD:4144870, RGD:4143409, RGD:4143437 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb |
surfactant protein B |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:13680361 |
RGD:4143409 |
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc |
surfactant protein C |
susceptibility |
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...
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RGD:4144060, RGD:4144124 |
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Skil |
SKI-like proto-oncogene |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23590892 |
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NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
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Smad4 |
SMAD family member 4 |
treatment |
IEP IDA |
associated with Silicosis |
RGD |
PMID:21941776 PMID:22558986 |
RGD:12880047, RGD:12880048 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad7 |
SMAD family member 7 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23590892 |
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NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
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Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26699812 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod3 |
superoxide dismutase 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15298984 |
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NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sparc |
secreted protein acidic and cysteine rich |
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ISO |
associated with Middle East respiratory syndrome;mRNA:increased expression:lung: |
RGD |
PMID:31838832 |
RGD:30309204 |
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1 |
secreted phosphoprotein 1 |
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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 chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stat1 |
signal transducer and activator of transcription 1 |
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IDA |
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RGD |
PMID:16806015 |
RGD:1600092 |
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30658076 PMID:22684844 |
RGD:6892915 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26699812 |
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NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Tab2 |
TGF-beta activated kinase 1/MAP3K7 binding protein 2 |
treatment |
ISO |
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RGD |
PMID:32506869 |
RGD:155663374 |
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
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Terc |
telomerase RNA component |
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ISO |
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...
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NCBI chr 2:112,815,654...112,816,041
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Tert |
telomerase reverse transcriptase |
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ISO |
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:18460650 PMID:18635888 PMID:18931339 PMID:19760749 PMID:20022961 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:33718801 PMID:34019641 PMID:34890115 More...
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NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tfpi |
tissue factor pathway inhibitor |
treatment |
ISO |
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RGD |
PMID:16338226 |
RGD:11062084 |
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tgfa |
transforming growth factor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18424623 |
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NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO IEP IMP |
associated with Middle East respiratory syndrome;mRNA:increased expression:lung CTD Direct Evidence: marker/mechanism protein:increased expression:lung associated with Silicosis associated with Asthma |
CTD 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...
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RGD:4145279, RGD:30309204, RGD:14995444, RGD:4145112, RGD:2307220, RGD:4145133 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr2 |
transforming growth factor, beta receptor 2 |
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IEP |
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RGD |
PMID:17077588 |
RGD:1601591 |
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21468558 PMID:23318412 |
RGD:13204970 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Pulmonary fibrosis |
ClinVar |
PMID:18252230 PMID:21536674 PMID:28492532 |
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Tlr2 |
toll-like receptor 2 |
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ISO |
associated with Pneumonia |
RGD |
PMID:19109203 PMID:20610040 |
RGD:4145324, RGD:4144177 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4 |
toll-like receptor 4 |
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ISO |
associated with acute lung injury |
RGD |
PMID:20610040 PMID:20017955 |
RGD:4144177, RGD:4144120 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9 |
toll-like receptor 9 |
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ISO |
mRNA:increased expression:lung (human) |
RGD |
PMID:18633634 |
RGD:5130206 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf |
tumor necrosis factor |
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