Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:interstitial lung disease
go back to main search page
Accession:DOID:3082 term browser browse the term
Definition:A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. (DO)
Synonyms:exact_synonym: ILD;   alveolitis;   diffuse parenchymal lung diseases;   interstitial lung diseases;   interstitial pneumonia;   interstitial pneumonias;   interstitial pneumonitides;   interstitial pneumonitis;   pulmonary alveolitis
 primary_id: MESH:D017563
 xref: EFO:0004244;   EFO:0009624;   GARD:13336;   ICD10CM:J84.9;   NCI:C164315;   OMIM:PS619611
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
interstitial lung disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human) RGD PMID:22009278 RGD:11096518 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
JBrowse link
G BDNF brain derived neurotrophic factor IEP associated with Sjogren's Syndrome;protein:decreased expression:serum: RGD PMID:24691584 RGD:8657022 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CCL17 C-C motif chemokine ligand 17 IEP protein:increased expression:serum RGD PMID:18276722 RGD:4145606 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment IEP
ISO
associated with Scleroderma, Systemic;protein:increased expression:plasma
associated with Arthritis, Rheumatoid;protein:increased expression:serum
associated with Scleroderma, Systemic;protein:increased expression:respiratory system fluid/secretion
RGD PMID:20404807 PMID:1387671 PMID:20056091 PMID:19615053 RGD:4142853, RGD:8549558, RGD:4891442, RGD:4891453 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:lung (mouse) RGD PMID:20089076 RGD:4891431 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCR2 C-C motif chemokine receptor 2 severity IEP protein:increased expression: T cell RGD PMID:16095529 RGD:4145064 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR5 C-C motif chemokine receptor 5 IEP associated with Scleroderma, Systemic; protein:increased expression:blood, T cell (human) RGD PMID:18383361 RGD:4892085 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD28 CD28 molecule IEP RGD PMID:20030671 RGD:5131613 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CMA1 chymase 1 IEP protein:increased expression:lung, mast cell (human) RGD PMID:17334631 RGD:5128816 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
JBrowse link
G COPA COPI coat complex subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP protein:increased expression:alveolar macrophage
protein:increased expression:serum
RGD PMID:19816001 PMID:19565490 RGD:5135305, RGD:5135306 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 IEP protein:increased expression:alveolar macrophage
protein:increased expression:serum
RGD PMID:19816001 PMID:19565490 RGD:5135305, RGD:5135306 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:29979980 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
G HGF hepatocyte growth factor severity IAGP associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human) RGD PMID:21520010 RGD:8548623 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HMOX1 heme oxygenase 1 IEP Idiopathic Interstitial Pneumonias;protein:increased expression:lung RGD PMID:11727267 RGD:4145416 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IDUA alpha-L-iduronidase IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G IL18 interleukin 18 IEP
ISO
associated with dermatomyositis; protein:increased expression:serum
associated with Pseudomonas Infection; protein:increased expression:lung
RGD PMID:20601655 PMID:21257923 PMID:20543002 RGD:4889547, RGD:5144220, RGD:4889883 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1A interleukin 1 alpha susceptibility IAGP
ISO
associated with sclerosis: DNA:SNPs:5' UTR, exon, intron:
associated with Immune Complex Diseases
RGD PMID:12528118 PMID:1826836 RGD:4142806, RGD:7794767 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP associated with Scleroderma, Systemic;protein:increased expression:plasma
protein:increased expression:alveolar macrophage
RGD PMID:20404807 PMID:8342915 RGD:4142853, RGD:4143199 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL2 interleukin 2 IDA RGD PMID:21257923 RGD:5144220 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL4R interleukin 4 receptor IDA Idiopathic Interstitial Pneumonias RGD PMID:15161635 RGD:4890021 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IEP RGD PMID:15887294 RGD:12910743 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 PMID:28492532 PMID:31268371 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G MMP9 matrix metallopeptidase 9 IEP
IDA
associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid RGD PMID:17643278 PMID:20185904 RGD:5130207, RGD:5130857 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MPO myeloperoxidase IEP associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid RGD PMID:17643278 RGD:5130207 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G MUC1 mucin 1, cell surface associated severity IEP protein:increased expression:serum
associated with Scleroderma, Systemic;protein:increased expression:serum
RGD PMID:15088311 PMID:15654008 PMID:19286849 RGD:5131176, RGD:5131173, RGD:4143496 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G NGF nerve growth factor IEP associated with Sjogren's Syndrome;protein:increased expression:serum: RGD PMID:24691584 RGD:8657022 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NOS2 nitric oxide synthase 2 IEP protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 disease_progression IEP protein:increased expression:lung RGD PMID:4028852 RGD:4892567 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G PADI4 peptidyl arginine deiminase 4 IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 NCBI chr 1:17,308,197...17,364,004
Ensembl chr 1:17,308,195...17,364,004
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:12765340 RGD:4144846 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SFTPA1 surfactant protein A1 IEP protein:decreased expression:lung
protein:increased expression:serum
RGD PMID:11445799 PMID:9216212 RGD:4143430, RGD:4143449 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPB surfactant protein B IAGP
IEP
associated with Scleroderma, Systemic;DNA:SNP: :p.T131I (rs1130866) (human)
protein:decreased expression:lung
RGD PMID:18263595 PMID:11445799 RGD:4143377, RGD:4143430 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C susceptibility IAGP
IEP
ISO
DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Interstitial lung disease
DNA:missense mutation:exon:p.I73T (human)
protein:decreased expression:lung
DNA:polymorphism:exon:p.N186S (human)
ClinVar
RGD
PMID:25741868 PMID:19443464 PMID:15756222 PMID:11445799 PMID:16423270 More... RGD:4144064, RGD:4143400, RGD:4143430, RGD:4144126, RGD:4143413 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SFTPD surfactant protein D IEP associated with Scleroderma, Systemic;protein:increased expression:serum RGD PMID:19286849 PMID:9216212 RGD:4143496, RGD:4143449 NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Interstitial pneumonitis ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10673208 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:25741868 PMID:28492532 PMID:31268371 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP associated with Arthritis, Rheumatoid;protein:increased expression:serum RGD PMID:18846962 RGD:4145270 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR9 toll like receptor 9 IEP mRNA, protein:increased expression:lung (human) RGD PMID:18633634 RGD:5130206 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Interstitial lung disease ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
anthracosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394417 NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394417 NCBI chr 2:201,288,271...201,364,289
Ensembl chr 2:201,288,271...201,357,398
JBrowse link
G FNBP1P1 formin binding protein 1 pseudogene 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394417 NCBI chr 2:74,120,519...74,121,816
Ensembl chr 2:74,120,680...74,123,218
JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:20005085 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20005085 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist EXP CTD Direct Evidence: marker/mechanism CTD PMID:20005085 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G RBM26 RNA binding motif protein 26 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394417 NCBI chr13:79,311,827...79,406,255
Ensembl chr13:79,311,824...79,406,477
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20005085 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
anti-basement membrane glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma
RGD PMID:21282555 PMID:7550093 RGD:5129185, RGD:11039051 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO mRNA:increased expression:glomerulus RGD PMID:21894146 PMID:20071465 PMID:17898087 RGD:6218988, RGD:4145614, RGD:2307059 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
JBrowse link
G CFB complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CLU clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment
ameliorates
ISO RGD PMID:19242505 PMID:21519331 RGD:7257569, RGD:151665824 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment IMP
IDA
ISO
RGD PMID:10712436 PMID:8206086 PMID:10712436 RGD:6902936, RGD:11352257, RGD:6902936 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
JBrowse link
G FCGR3A Fc gamma receptor IIIa no_association IAGP DNA:cnv: :
DNA:polymorphism:exon:(rs396991)(human)
RGD PMID:19946017 PMID:19640933 RGD:5508400, RGD:5508403 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G GP6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP RGD PMID:21569485 RGD:5147561 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human) RGD PMID:21569485 RGD:5147561 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:22046355 PMID:9198037 RGD:6893447, RGD:7401232 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9350645 PMID:17898087 RGD:2317673, RGD:2307059 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:9032136 PMID:7679412 RGD:2308810, RGD:9698425 NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,782...36,111,236
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NPPB natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PF4 platelet factor 4 treatment ISO RGD PMID:7573480 RGD:329901920 NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 9:131,576,775...131,740,076
Ensembl chr 9:131,576,770...131,740,076
JBrowse link
G SELP selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO protein:decreased expression:kidney, brush border membrane (mouse) RGD PMID:19193726 RGD:7242947 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G SYK spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G XCL1 X-C motif chemokine ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr 1:168,576,605...168,582,069
Ensembl chr 1:168,576,605...168,582,069
JBrowse link
asbestosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26699812 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ATF6 activating transcription factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G CFD complement factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:22832039 NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
JBrowse link
G CLCA1 chloride channel accessory 1 ISO mRNA, protein:increased expression:lung RGD PMID:17637221 RGD:4145655 NCBI chr 1:86,468,927...86,500,259
Ensembl chr 1:86,468,368...86,500,259
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IEP mRNA:decreased expression:leukocyte RGD PMID:20514434 RGD:4892076 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G DDIT3 DNA damage inducible transcript 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility IAGP DNA:SNP:exon:p.Y113H (rs1051740) (human) RGD PMID:17159790 RGD:4889408 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:9055949 RGD:5490588 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17563610
G HSPA5 heat shock protein family A (Hsp70) member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:8473757 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G NOS2 nitric oxide synthase 2 ISO
EXP
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:lung
CTD
RGD
PMID:12160931 PMID:12160931 PMID:12051993 RGD:4891441, RGD:4891438 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G PRDX1 peroxiredoxin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
JBrowse link
G PRDX2 peroxiredoxin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800
JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12368052 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SPP1 secreted phosphoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16221779 PMID:21514415 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G TNC tenascin C IEP protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:8473757 PMID:20486865 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TPM4 tropomyosin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr19:16,067,538...16,103,002
Ensembl chr19:16,067,021...16,103,002
JBrowse link
autoimmune interstitial lung, joint, and kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,204,875...159,206,500
Ensembl chr 1:159,204,875...159,206,500
JBrowse link
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,184,302...161,199,054
Ensembl chr 1:161,184,302...161,199,054
JBrowse link
G AIM2 absent in melanoma 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,055,051...159,147,132
Ensembl chr 1:159,061,599...159,187,843
JBrowse link
G APCS amyloid P component, serum IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865
JBrowse link
G APOA2 apolipoprotein A2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G ARHGAP30 Rho GTPase activating protein 30 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,046,946...161,069,891
Ensembl chr 1:161,046,946...161,069,970
JBrowse link
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
JBrowse link
G B4GALT3 beta-1,4-galactosyltransferase 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,171,310...161,177,968
Ensembl chr 1:161,171,310...161,177,968
JBrowse link
G C1orf226 chromosome 1 open reading frame 226 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,378,841...162,386,812
Ensembl chr 1:162,378,841...162,386,812
JBrowse link
G CADM3 cell adhesion molecule 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313
JBrowse link
G CASQ1 calsequestrin 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886
JBrowse link
G CD244 CD244 molecule IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887
JBrowse link
G CD48 CD48 molecule IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,678,746...160,711,822
Ensembl chr 1:160,678,746...160,711,831
JBrowse link
G CD84 CD84 molecule IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,541,098...160,579,496
Ensembl chr 1:160,541,095...160,579,516
JBrowse link
G CFAP126 cilia and flagella associated protein 126 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,364,733...161,367,876
Ensembl chr 1:161,364,733...161,367,876
JBrowse link
G CFAP45 cilia and flagella associated protein 45 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165
JBrowse link
G COPA COPI coat complex subunit alpha IAGP
ISS
EXP
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome
ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease
OMIM:616414
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27048656 More... NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
JBrowse link
G CRP C-reactive protein IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G DCAF8 DDB1 and CUL4 associated factor 8 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,215,720...160,262,549
Ensembl chr 1:160,215,715...160,262,549
JBrowse link
G DCAF8-DT DCAF8 divergent transcript IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,261,749...160,262,778
Ensembl chr 1:160,261,731...160,263,328
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DEDD death effector domain containing IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,120,974...161,132,667
Ensembl chr 1:161,120,974...161,132,688
JBrowse link
G DUSP12 dual specificity phosphatase 12 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,749,786...161,757,238
Ensembl chr 1:161,749,758...161,757,238
JBrowse link
G DUSP23 dual specificity phosphatase 23 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,780,962...159,782,543
Ensembl chr 1:159,780,932...159,782,543
JBrowse link
G F11R F11 receptor IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,995,211...161,021,152
Ensembl chr 1:160,995,211...161,021,175
JBrowse link
G FCER1A Fc epsilon receptor Ia IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,283,575...159,308,202
Ensembl chr 1:159,289,714...159,308,224
JBrowse link
G FCER1G Fc epsilon receptor Ig IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,215,295...161,219,245
Ensembl chr 1:161,215,234...161,220,699
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654
JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
JBrowse link
G FCGR3A Fc gamma receptor IIIa IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G FCRL6 Fc receptor like 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,800,512...159,816,257
Ensembl chr 1:159,800,511...159,816,257
JBrowse link
G FCRLA Fc receptor like A IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,707,229...161,714,352
Ensembl chr 1:161,706,972...161,714,352
JBrowse link
G FCRLB Fc receptor like B IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,721,544...161,728,143
Ensembl chr 1:161,721,544...161,728,143
JBrowse link
G HSPA6 heat shock protein family A (Hsp70) member 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,524,540...161,526,894
Ensembl chr 1:161,524,540...161,526,894
JBrowse link
G IFI16 interferon gamma inducible protein 16 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,999,976...159,055,151
Ensembl chr 1:158,999,968...159,055,155
JBrowse link
G IGSF8 immunoglobulin superfamily member 8 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,091,339...160,099,468
Ensembl chr 1:160,091,340...160,098,943
JBrowse link
G IGSF9 immunoglobulin superfamily member 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,927,041...159,945,613
Ensembl chr 1:159,927,039...159,945,613
JBrowse link
G ITLN1 intelectin 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,876,540...160,885,180
Ensembl chr 1:160,876,540...160,885,180
JBrowse link
G ITLN2 intelectin 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,945,025...160,954,809
Ensembl chr 1:160,945,025...160,954,809
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
JBrowse link
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,081,538...160,090,563
Ensembl chr 1:160,081,538...160,090,563
JBrowse link
G KLHDC9 kelch domain containing 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,098,361...161,100,346
Ensembl chr 1:161,098,361...161,100,346
JBrowse link
G LY9 lymphocyte antigen 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,796,174...160,828,255
Ensembl chr 1:160,796,074...160,828,261
JBrowse link
G MNDA myeloid cell nuclear differentiation antigen IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,831,351...158,849,502
Ensembl chr 1:158,831,351...158,849,506
JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G NCSTN nicastrin IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723
JBrowse link
G NECTIN4 nectin cell adhesion molecule 4 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,070,998...161,089,558
Ensembl chr 1:161,070,998...161,089,558
JBrowse link
G NHLH1 nescient helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,367,071...160,372,846
Ensembl chr 1:160,367,071...160,372,846
JBrowse link
G NIT1 nitrilase 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,118,105...161,125,445
Ensembl chr 1:161,118,086...161,125,445
JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403
JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,229,669...161,238,203
Ensembl chr 1:161,229,666...161,238,244
JBrowse link
G OLFML2B olfactomedin like 2B IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,983,192...162,023,869
Ensembl chr 1:161,983,192...162,023,869
JBrowse link
G OR10J1 olfactory receptor family 10 subfamily J member 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,397,465...159,440,967
Ensembl chr 1:159,437,845...159,443,078
JBrowse link
G OR10J3 olfactory receptor family 10 subfamily J member 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,313,570...159,314,759
Ensembl chr 1:159,313,720...159,314,659
JBrowse link
G OR10J5 olfactory receptor family 10 subfamily J member 5 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,535,078...159,536,007
Ensembl chr 1:159,535,078...159,536,007
JBrowse link
G OR6K2 olfactory receptor family 6 subfamily K member 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,699,678...158,700,652
Ensembl chr 1:158,699,678...158,700,652
JBrowse link
G OR6K3 olfactory receptor family 6 subfamily K member 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,716,327...158,725,120
Ensembl chr 1:158,716,327...158,720,720
JBrowse link
G OR6K6 olfactory receptor family 6 subfamily K member 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,754,720...158,755,891
Ensembl chr 1:158,754,720...158,755,891
JBrowse link
G OR6N1 olfactory receptor family 6 subfamily N member 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,764,236...158,840,396
Ensembl chr 1:158,747,814...158,772,195
JBrowse link
G OR6N2 olfactory receptor family 6 subfamily N member 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,774,222...158,781,204
Ensembl chr 1:158,774,222...158,781,204
JBrowse link
G PCP4L1 Purkinje cell protein 4 like 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,258,745...161,285,450
Ensembl chr 1:161,258,745...161,285,450
JBrowse link
G PEA15 proliferation and apoptosis adaptor protein 15 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,205,384...160,215,372
Ensembl chr 1:160,205,380...160,215,376
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PFDN2 prefoldin subunit 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,100,561...161,118,037
Ensembl chr 1:161,100,556...161,118,055
JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990
JBrowse link
G PPOX protoporphyrinogen oxidase IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
JBrowse link
G PYHIN1 pyrin and HIN domain family member 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,931,552...158,990,870
Ensembl chr 1:158,930,796...158,977,059
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SH2D1B SH2 domain containing 1B IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,395,268...162,412,136
Ensembl chr 1:162,395,268...162,412,138
JBrowse link
G SLAMF1 signaling lymphocytic activation molecule family member 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,608,106...160,647,044
Ensembl chr 1:160,608,106...160,647,044
JBrowse link
G SLAMF6 SLAM family member 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,485,036...160,523,255
Ensembl chr 1:160,485,030...160,523,262
JBrowse link
G SLAMF7 SLAM family member 7 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,739,057...160,754,821
Ensembl chr 1:160,739,057...160,754,821
JBrowse link
G SLAMF8 SLAM family member 8 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,826,873...159,837,492
Ensembl chr 1:159,826,811...159,837,492
JBrowse link
G SLAMF9 SLAM family member 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,951,492...159,983,984
Ensembl chr 1:159,951,492...159,954,237
JBrowse link
G SNHG28 small nucleolar RNA host gene 28 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,834,478...159,855,037
Ensembl chr 1:159,834,480...159,855,071
JBrowse link
G SPATA46 spermatogenesis associated 46 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,373,203...162,376,854
Ensembl chr 1:162,373,203...162,376,854
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
G TAGLN2 transgelin 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,918,111...159,925,507
Ensembl chr 1:159,918,107...159,925,507
JBrowse link
G TOMM40L translocase of outer mitochondrial membrane 40 like IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,226,060...161,230,746
Ensembl chr 1:161,225,939...161,230,746
JBrowse link
G TSTD1 thiosulfate sulfurtransferase like domain containing 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,037,631...161,038,964
Ensembl chr 1:161,037,631...161,038,977
JBrowse link
G UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,561,531...162,601,240
Ensembl chr 1:162,561,722...162,601,240
JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856
JBrowse link
G UHMK1 U2AF homology motif kinase 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,497,174...162,529,631
Ensembl chr 1:162,497,251...162,529,631
JBrowse link
G USF1 upstream transcription factor 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,039,251...161,045,977
Ensembl chr 1:161,039,251...161,045,977
JBrowse link
G USP21 ubiquitin specific peptidase 21 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,159,500...161,165,723
Ensembl chr 1:161,159,450...161,165,723
JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670
JBrowse link
G VSIG8 V-set and immunoglobulin domain containing 8 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,854,316...159,862,657
Ensembl chr 1:159,854,316...159,862,657
JBrowse link
berylliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme EXP CTD Direct Evidence: marker/mechanism CTD PMID:10194187 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G BTNL2 butyrophilin like 2 susceptibility IAGP
EXP
DNA:SNP: :rs3117099(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17927685 PMID:17927685 RGD:9685029 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G CCR5 C-C motif chemokine receptor 5 disease_progression IAGP DNA:polymorphisms:5' utr:multiple (human) RGD PMID:20075058 RGD:4892065 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD28 CD28 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:12952926 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:16766924 NCBI chr 1:93,885,199...93,909,430
Ensembl chr 1:93,885,199...93,909,456
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8105536 PMID:11551429 PMID:14662898 PMID:15273960 PMID:17927685 More... NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
JBrowse link
G HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) EXP CTD Direct Evidence: marker/mechanism CTD PMID:16272364 NCBI chr 6:33,112,516...33,129,113
Ensembl chr 6:33,112,516...33,129,084
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16272364 PMID:17927685 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HMOX1 heme oxygenase 1 IEP protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:8977230 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8428540 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G TGFB1 transforming growth factor beta 1 severity IAGP
EXP
DNA:polymorphisms: :-509C>T (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15750822 PMID:17785866 PMID:17785866 RGD:4145294 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
bird fancier's lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:serum RGD PMID:15881280 RGD:5131172 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
bronchiolitis obliterans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO RGD PMID:17097496 RGD:4140933 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADORA2A adenosine A2a receptor ISO RGD PMID:19766783 RGD:4890362 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
JBrowse link
G CCL17 C-C motif chemokine ligand 17 IEP RGD PMID:18785972 RGD:4145604 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:14611812 RGD:2307195 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL22 C-C motif chemokine ligand 22 IEP RGD PMID:20628341 RGD:4891471 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:lung (rat) RGD PMID:19840961 PMID:14611812 RGD:4889978, RGD:2307195 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO protein:increased expression:bronchoalveolar Lavage fluid RGD PMID:22215510 RGD:6483763 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:trachea: RGD PMID:11518728 RGD:4145124 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CD86 CD86 molecule ISO RGD PMID:11266944 RGD:2307206 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CSF2 colony stimulating factor 2 ISO associated with Respiratory Aspiration;protein:increased expression:serum RGD PMID:18557728 RGD:2317286 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO
IEP
protein:increased expression:respiratory system fluid/secretion RGD PMID:16709871 PMID:12097412 PMID:12097412 RGD:5135441, RGD:5135451, RGD:5135451 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO
IEP
protein:increased expression:respiratory system fluid/secretion RGD PMID:12097412 PMID:12097412 RGD:5135451, RGD:5135451 NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO
IEP
protein:increased expression:respiratory system fluid/secretion RGD PMID:16709871 PMID:12097412 PMID:12097412 RGD:5135441, RGD:5135451, RGD:5135451 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:16709871 PMID:12097412 RGD:5135441, RGD:5135451 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G EDN1 endothelin 1 IMP human gene in a rat model RGD PMID:9595474 RGD:8662402 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:lung RGD PMID:19840961 RGD:4889978 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G GZMB granzyme B IEP RGD PMID:19737140 RGD:5135518 NCBI chr14:24,630,954...24,634,190
Ensembl chr14:24,630,954...24,634,267
JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:12973103 RGD:4145412 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: therapeutic CTD PMID:16137903 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL13 interleukin 13 ISO
IEP
protein:increased expression:bronchoalveolar lavage fluid RGD PMID:17182591 PMID:17182591 RGD:4146242, RGD:4146242 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO RGD PMID:17182591 RGD:4146242 NCBI chr  X:118,727,606...118,805,228
Ensembl chr  X:118,727,133...118,794,535
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO RGD PMID:17182591 RGD:4146242 NCBI chr  X:115,003,982...115,017,616
Ensembl chr  X:115,003,975...115,019,977
JBrowse link
G IL17A interleukin 17A ISO mRNA:increased expression:trachea RGD PMID:20393404 RGD:4143277 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:increased expression:lung RGD PMID:11889437 RGD:4143176 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:serum RGD PMID:18557728 RGD:2317286 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20393404 RGD:4143277 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MBL2 mannose binding lectin 2 resistance IAGP DNA:transversion:5' utr:-290C>G rs7096206 (human) RGD PMID:19104434 RGD:4889456 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression, increased activity:bronchoalveolar lavage fluid RGD PMID:20417130 RGD:5130759 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:serum RGD PMID:16969297 RGD:5131273 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP RGD PMID:18158963 RGD:5131450 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NOS2 nitric oxide synthase 2 IEP associated with lung transplantation; protein:increased expression:lung RGD PMID:11112135 RGD:4892082 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:15136885 RGD:4892068 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 IEP associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage RGD PMID:11981419 RGD:5147386 NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
JBrowse link
G SFTPD surfactant protein D IEP RGD PMID:18347569 RGD:4143500 NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
JBrowse link
G TLR9 toll like receptor 9 IAGP DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human) RGD PMID:20227302 RGD:5130722 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
cryptogenic organizing pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF1A TNF receptor superfamily member 1A IEP protein:increased expression:lung, macrophage (human) RGD PMID:21144722 RGD:5131112 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP protein:increased expression:lung, lymphocyte (human) RGD PMID:21144722 RGD:5131112 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
desquamative interstitial pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPC surfactant protein C ISS OMIM:263000 MouseDO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
diffuse pulmonary fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
extrinsic allergic alveolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IEP protein:increased expression:plasma RGD PMID:19218674 RGD:4140920 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO
IEP
protein:increased secretion:lung, secretion (mouse)
mRNA:increased expression:lung:bronchoalveolar lavage cell (human)
RGD PMID:16387809 PMID:10384061 RGD:4891434, RGD:4891436 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO RGD PMID:20027288 RGD:5130978 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
JBrowse link
G CCR3 C-C motif chemokine receptor 3 IEP RGD PMID:19842835 RGD:4145620 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G CD86 CD86 molecule ISO associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse) RGD PMID:19282343 RGD:4892294 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO
IEP
mRNA:increased expression:alveolar macrophage RGD PMID:14991597 PMID:15725351 RGD:5135448, RGD:5135490 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO RGD PMID:14991597 RGD:5135448 NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO
IEP
mRNA:increased expression:alveolar macrophage RGD PMID:14991597 PMID:15725351 RGD:5135448, RGD:5135490 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO
IEP
RGD PMID:14991597 PMID:19842835 RGD:5135448, RGD:4145620 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IEP mRNA:decreased expression:leukocyte RGD PMID:20514434 RGD:4892076 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G IL13 interleukin 13 ISO mRNA:increased expression:lung RGD PMID:9916735 PMID:20861649 RGD:4145650, RGD:5128548 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL17A interleukin 17A ISO associated with Silicosis RGD PMID:20421647 PMID:19151189 RGD:4888525, RGD:4889106 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL17RA interleukin 17 receptor A ISO RGD PMID:19414809 RGD:5144217 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:Bronchoalveolar Lavage Fluid RGD PMID:10882225 RGD:4142832 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta disease_progression IEP
ISO
protein:increased expression:serum (human) RGD PMID:19556641 PMID:1519663 RGD:4142842, RGD:7401229 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:lung,respiratory system fluid/secretion RGD PMID:19151189 RGD:4889106 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G NOS2 nitric oxide synthase 2 IEP protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G SFTPA1 surfactant protein A1 IEP protein:decreased expression:lung RGD PMID:10543276 RGD:4143437 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10673208 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member susceptibility IAGP DNA:polymorphisms:cds:P. D637G, P661P (human) RGD PMID:18342853 RGD:5147840 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TLR6 toll like receptor 6 ISO RGD PMID:20070409 RGD:4889532 NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
JBrowse link
G TNC tenascin C IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:9780295 RGD:4889595 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
JBrowse link
G TNF tumor necrosis factor IDA
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid RGD PMID:15653992 PMID:10882225 RGD:4143466, RGD:4142832 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP protein:increased expression:alveolar macrophage (human) RGD PMID:15929959 RGD:5131148 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP protein:increased expression:alveolar macrophage (human) RGD PMID:15929959 RGD:5131148 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:15764076 RGD:5684419 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
farmer's lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL12B interleukin 12B ISO RGD PMID:12084045 RGD:4145430 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G TNF tumor necrosis factor IDA
IEP
IAGP
protein:increased activity:serum
protein:increased secretion:macrophage
DNA:polymorphism:promoter
RGD PMID:11179110 PMID:8466130 PMID:11179110 RGD:4143374, RGD:4143375, RGD:4143374 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
granulomatosis with polyangiitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR3 C-C motif chemokine receptor 3 IEP protein:increased expression:nasal cavity epithelium
protein:increased expression:blood, T cell
RGD PMID:11529927 PMID:12716450 RGD:4145634, RGD:6893409 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G CCR5 C-C motif chemokine receptor 5 IAGP DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:12858455 RGD:4892114 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD36 CD36 molecule (CD36 blood group) IEP RGD PMID:21412229 RGD:6893495 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40LG CD40 ligand IEP RGD PMID:21411717 RGD:5490596 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) RGD PMID:12022356 RGD:7204724 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G FCAR Fc alpha receptor IAGP RGD PMID:22147912 RGD:7242064 NCBI chr19:54,874,235...54,891,420
Ensembl chr19:54,874,235...54,891,420
JBrowse link
G FCGR3B Fc gamma receptor IIIb EXP CTD Direct Evidence: marker/mechanism CTD PMID:16482158 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:increased expression:nasal cavity mucosa, blood vessel: RGD PMID:2772560 RGD:8548880 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL10 interleukin 10 IAGP RGD PMID:11838849 RGD:1580480 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G PRTN3 proteinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25288799 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G THBD thrombomodulin IEP protein:increased expression:serum RGD PMID:20156770 RGD:5684985 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G VTN vitronectin IDA RGD PMID:12126637 RGD:1580817 NCBI chr17:28,367,284...28,370,307
Ensembl chr17:28,367,284...28,373,091
JBrowse link
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B IAGP ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement OMIM
ClinVar
PMID:17034542 PMID:24268661 PMID:25741868 PMID:26471370 PMID:26495788 More... NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412
JBrowse link
idiopathic interstitial pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL5 C-X-C motif chemokine ligand 5 IEP associated with Scleroderma, Diffuse
protein:increased expression:serum
RGD PMID:18432520 PMID:16085216 RGD:5135258, RGD:5135260 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:lung, alveolar macrophage (human) RGD PMID:19218648 RGD:4145518 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:bronchoalveolar lavage (rat) RGD PMID:10988147 RGD:11062092 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KEAP1 kelch like ECH associated protein 1 IEP protein:increased expression:hyperplastic lung epithelium, alveolus (human) RGD PMID:20718723 RGD:6893300 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
G MTOR mechanistic target of rapamycin kinase IMP RGD PMID:21444868 RGD:7245946 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 IEP protein:increased expression:serum RGD PMID:15467329 RGD:5144148 NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
JBrowse link
INTERSTITIAL LUNG AND LIVER DISEASE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP9 Rho GTPase activating protein 9 IAGP ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND
ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:28492532 PMID:35303589 NCBI chr12:57,472,269...57,488,824
Ensembl chr12:57,472,264...57,488,814
JBrowse link
G DCTN2 dynactin subunit 2 IAGP ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar PMID:28492532 NCBI chr12:57,530,051...57,547,192
Ensembl chr12:57,529,633...57,547,224
JBrowse link
G DDIT3 DNA damage inducible transcript 3 IAGP ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar PMID:28492532 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar PMID:29573043 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar PMID:28492532 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP
EXP
ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MBD6 methyl-CpG binding domain protein 6 IAGP ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar PMID:28492532 NCBI chr12:57,520,715...57,531,545
Ensembl chr12:57,520,710...57,530,148
JBrowse link
G MIR616 microRNA 616 IAGP ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar PMID:28492532 NCBI chr12:57,519,163...57,519,259
Ensembl chr12:57,519,163...57,519,259
JBrowse link
G MIR6758 microRNA 6758 IAGP ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr12:57,512,688...57,512,750
Ensembl chr12:57,512,688...57,512,750
JBrowse link
interstitial lung disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPA1 surfactant protein A1 IAGP ClinVar Annotator: match by term: Interstitial lung disease 1 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26792177 PMID:30854216 PMID:31601679 More... NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
interstitial lung disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:15976379 PMID:17597647 PMID:18024538 PMID:18246475 PMID:18317237 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G AHRR aryl hydrocarbon receptor repressor IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:321,714...438,285
Ensembl chr 5:321,714...438,291
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IEP mRNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G APOA1 apolipoprotein A1 IEP protein: decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G ATP11A ATPase phospholipid transporting 11A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G BRD4 bromodomain containing 4 IDA RGD PMID:23759512 RGD:9586353 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
JBrowse link
G BRD9 bromodomain containing 9 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:863,741...892,801
Ensembl chr 5:850,291...892,801
JBrowse link
G CCL13 C-C motif chemokine ligand 13 ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr17:34,356,480...34,358,610
Ensembl chr17:34,356,480...34,358,610
JBrowse link
G CEP72 centrosomal protein 72 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:612,340...676,616
Ensembl chr 5:612,340...667,168
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator IEP mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 IAGP
IEP
DNA:polymorphism:promoter:-156G>C (human)
protein:increased expression:lung, macrophage, type II pneumocyte
RGD PMID:20137269 PMID:11751193 RGD:5135241, RGD:5135250 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 treatment IEP
ISO
mRNA:increased expression:lung (human) RGD PMID:30119248 PMID:30119248 RGD:151347411, RGD:151347411 NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
JBrowse link
G DPP9 dipeptidyl peptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2
CTD
ClinVar
PMID:23583980 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G DTNBP1 dystrobrevin binding protein 1 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 6:15,522,807...15,663,058
Ensembl chr 6:15,522,807...15,663,058
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 IDA RGD PMID:24652950 RGD:9589169 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,698
JBrowse link
G EP300 E1A binding protein p300 treatment IEP
ISO
mRNA:increased expression:lung (human) RGD PMID:30119248 PMID:30119248 RGD:151347411, RGD:151347411 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G ESR1 estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G EXOC3 exocyst complex component 3 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:443,176...467,290
Ensembl chr 5:443,175...471,937
JBrowse link
G EXOC3-AS1 EXOC3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:441,835...443,160
Ensembl chr 5:441,498...443,160
JBrowse link
G F3 coagulation factor III, tissue factor IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:10946084 RGD:11060143 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G FAM13A family with sequence similarity 13 member A EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2
CTD
ClinVar
PMID:23583980 NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:15148335 RGD:11049166 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand ISO RGD PMID:15148335 RGD:11049166 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IEP protein:increased expression:lung (human) RGD PMID:29722558 RGD:155791445 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:178500 MouseDO NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr 7:1,087,118...1,093,810
Ensembl chr 7:1,082,208...1,093,815
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human) RGD PMID:21373184 RGD:5147566 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr22:26,443,109...26,483,863
Ensembl chr22:26,443,107...26,483,931
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 IEP protein:increased expression:serum RGD PMID:14555548 RGD:5144236 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:16199547 PMID:19494218 PMID:21792839 PMID:22940634 PMID:26100510 More... NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IEP RGD PMID:21309737 RGD:5147438 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 PMID:19489057 More... NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC110806264 TERT enhancer in intron 2 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:28492532 NCBI chr 5:1,286,474...1,287,720 JBrowse link
G LOC110806306 telomerase RNA component (TERC) promoter IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:17392301 NCBI chr 3:169,764,689...169,765,858 JBrowse link
G LOC123493259 Sharpr-MPRA regulatory region 13256 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:28492532 NCBI chr 5:1,276,694...1,276,988 JBrowse link
G LOC129999976 ATAC-STARR-seq lymphoblastoid silent region 18982 IAGP ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr 8:22,164,628...22,165,667 JBrowse link
G MIR184 microRNA 184 IEP RNA:decreased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871
JBrowse link
G MIR31 microRNA 31 IEP RNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
JBrowse link
G MMP1 matrix metallopeptidase 1 IEP
IAGP
protein:increased expression:lung,bronchoalveolar lavage fluid:
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar
RGD
PMID:18447576 RGD:4890373 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP19 matrix metallopeptidase 19 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr12:55,835,433...55,842,936
Ensembl chr12:55,835,433...55,842,966
JBrowse link
G MMP3 matrix metallopeptidase 3 IEP
EXP
mRNA, protein:increased expression:lung
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:28434932 PMID:21871427 RGD:8694097 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:serum: RGD PMID:22963039 RGD:7244290 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD
ClinVar
OMIM
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 More... NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G MUC5B-AS1 MUC5B antisense RNA 1 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:24033266 PMID:25741868 NCBI chr11:1,242,261...1,249,676
Ensembl chr11:1,242,261...1,249,676
JBrowse link
G NKD2 NKD inhibitor of WNT signaling pathway 2 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:1,008,802...1,038,943
Ensembl chr 5:1,008,802...1,038,943
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NKX2-1-AS1 NKX2-1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:25741868 NCBI chr14:36,519,278...36,523,016
Ensembl chr14:36,519,278...36,523,016
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IEP mRNA:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G PARN poly(A)-specific ribonuclease EXP CTD Direct Evidence: marker/mechanism CTD PMID:25848748 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 IEP mRNA,protein:increased expression, increased activity:fibroblast RGD PMID:23260200 RGD:10413908 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PDCD6 programmed cell death 6 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:271,646...314,974
Ensembl chr 5:271,621...314,974
JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:18491991 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IAGP
IEP
IDA
DNA:SNPs: :3050G>C, 8473C>T (human)
protein:decreased expression:lung:
RGD PMID:21319594 PMID:14511257 PMID:20203246 RGD:5135280, RGD:5135507, RGD:5135461 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
CTD
ClinVar
PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 More... NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 More... NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
JBrowse link
G RTKN2 rhotekin 2 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr10:62,183,900...62,268,844
Ensembl chr10:62,183,035...62,268,844
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase exacerbates IAGP associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) RGD PMID:33533494 RGD:150429642 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,288...36,513,829
Ensembl chr14:36,473,288...36,513,829
JBrowse link
G SFTPA1 surfactant protein A1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar PMID:13680361 PMID:24033266 PMID:25741868 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP
EXP
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16292672 PMID:17580966 PMID:19100526 PMID:20466729 PMID:22853774 More... NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD
ClinVar
PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 More... NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLC12A7 solute carrier family 12 member 7 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063
JBrowse link
G SLC6A18 solute carrier family 6 member 18 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189
JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
JBrowse link
G SLC9A3 solute carrier family 9 member A3 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
JBrowse link
G SMAD2 SMAD family member 2 IEP mRNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMAD6 SMAD family member 6 IEP mRNA:decreased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26599507 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30481203 PMID:22684844 RGD:6892915 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STN1 STN1 subunit of CST complex EXP CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G TERC telomerase RNA component IAGP
EXP
ClinVar Annotator: match by term: Interstitial lung disease 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17392301 PMID:17460043 PMID:23535734 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP
EXP
DNA:deletion, missense mutations, splice-site mutations:multiple
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Interstitial lung disease 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:12629597 PMID:15814878 PMID:15885610 PMID:16199547 More... RGD:11038666 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFPI tissue factor pathway inhibitor severity IEP protein:increased expression:Bronchoalveolar lavage,epithelial cell: RGD PMID:10946084 RGD:11060143 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G THBD thrombomodulin severity IEP RGD PMID:20418386 RGD:5685036 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TNF tumor necrosis factor EXP
ISS
CTD Direct Evidence: marker/mechanism
OMIM:178500
CTD
MouseDO
PMID:8473757 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TOLLIP toll interacting protein IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar NCBI chr11:1,274,371...1,309,632
Ensembl chr11:1,274,371...1,309,654
JBrowse link
G TPPP tubulin polymerization promoting protein IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:659,862...700,727
Ensembl chr 5:659,862...693,352
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
JBrowse link
G WNT5A Wnt family member 5A EXP CTD Direct Evidence: marker/mechanism CTD PMID:28726637 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
G ZDHHC11 zinc finger DHHC-type containing 11 IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:795,605...860,563
Ensembl chr 5:795,605...858,973
JBrowse link
G ZDHHC11B zinc finger DHHC-type containing 11B IAGP ClinVar Annotator: match by term: Interstitial lung disease 2 ClinVar PMID:12629597 PMID:28492532 NCBI chr 5:710,355...784,729
Ensembl chr 5:710,355...784,729
JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA3 integrin subunit alpha 3 IAGP
EXP
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME
ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 More... NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
JBrowse link
Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISS OMIM:246400 | OMIM:604856 MouseDO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
pneumoconiosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
JBrowse link
G ARHGAP22 Rho GTPase activating protein 22 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr10:48,429,831...48,656,265
Ensembl chr10:48,446,036...48,656,265
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G ATR ATR serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G CA1 carbonic anhydrase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014
JBrowse link
G CA3 carbonic anhydrase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 8:85,438,859...85,449,040
Ensembl chr 8:85,373,436...85,449,040
JBrowse link
G CAT catalase IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:19273541 RGD:5130756 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCDC180 coiled-coil domain containing 180 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 9:97,307,337...97,378,751
Ensembl chr 9:97,307,304...97,378,751
JBrowse link
G CDH23 cadherin related 23 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G ENOPH1 enolase-phosphatase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 4:82,430,590...82,461,177
Ensembl chr 4:82,430,590...82,461,177
JBrowse link
G EPHB4 EPH receptor B4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G FBXL9P F-box and leucine rich repeat protein, pseudogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr16:67,207,139...67,227,025
Ensembl chr16:67,207,139...67,227,048
Ensembl chr16:67,207,139...67,227,048
JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
JBrowse link
G H3-4 H3.4 histone, cluster member EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 1:228,424,845...228,425,360
Ensembl chr 1:228,424,845...228,425,360
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human) RGD PMID:16188098 RGD:7421557 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415
JBrowse link
G IL27RA interleukin 27 receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr19:14,031,762...14,053,218
Ensembl chr19:14,031,762...14,053,218
JBrowse link
G IL4 interleukin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21857939 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G MDM4 MDM4 regulator of p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120
JBrowse link
G NUP35 nucleoporin 35 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 2:183,117,514...183,161,680
Ensembl chr 2:183,117,513...183,161,680
JBrowse link
G OVGP1 oviductal glycoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 1:111,414,319...111,427,735
Ensembl chr 1:111,414,319...111,427,735
JBrowse link
G PRXL2B peroxiredoxin like 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036
JBrowse link
G SCD5 stearoyl-CoA desaturase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 4:82,629,539...82,798,796
Ensembl chr 4:82,629,539...82,798,796
JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr16:28,974,778...28,984,765
Ensembl chr16:28,974,221...28,984,548
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member EXP CTD Direct Evidence: marker/mechanism CTD PMID:35506645 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
JBrowse link
G TMPRSS3 transmembrane serine protease 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091
JBrowse link
pulmonary fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ACE angiotensin I converting enzyme ISO
EXP
associated with Lung Injury;protein:decreased expression:lung
CTD Direct Evidence: therapeutic
associated with Radiation Pneumonitis
associated with Hypertension
CTD
RGD
PMID:33007385 PMID:20581171 PMID:17506716 PMID:17506718 PMID:20651228 RGD:4140483, RGD:4140925, RGD:4140923, RGD:4140478 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:27550926 PMID:33007385 PMID:20581171 RGD:4140483 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236
JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:30639579 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing EXP CTD Direct Evidence: therapeutic CTD PMID:25945502 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP
ISO
mRNA:decreased expression:lung (human)
mRNA, protein:decreased expression:lung
RGD PMID:22669512 PMID:24226635 RGD:7245533, RGD:8695997 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGT angiotensinogen treatment ISO
EXP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:28960804 PMID:31181250 PMID:24168260 RGD:11039408 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:18500976 RGD:5147454 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:18500976 RGD:5147454 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase IEP protein:altered localization:alveolar macrophage, nuclear membrane RGD PMID:8621765 RGD:4890430 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ANXA1 annexin A1 ISO protein:decreased expression:lung RGD PMID:9269316 RGD:2306948 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP RGD PMID:12125811 RGD:1578409 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G AREG amphiregulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:26817844 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO protein:increased expression:lung RGD PMID:24127863 RGD:14390076 NCBI chr11:134,378,504...134,412,242
Ensembl chr11:134,378,504...134,412,242
JBrowse link
G BAD BCL2 associated agonist of cell death ISO RGD PMID:18198484 RGD:2292680 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G BDKRB1 bradykinin receptor B1 IDA RGD PMID:20451601 RGD:5129229 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
JBrowse link
G BDNF brain derived neurotrophic factor IEP protein:increased expression:sputum RGD PMID:12917229 RGD:4891121 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BMP7 bone morphogenetic protein 7 EXP CTD Direct Evidence: therapeutic CTD PMID:17975199 NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641
JBrowse link
G BRD4 bromodomain containing 4 treatment ISO RGD PMID:23759512 RGD:9586353 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
JBrowse link
G CALCA calcitonin related polypeptide alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:17365031 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
JBrowse link
G CALR calreticulin ISO protein:increased expression:lung RGD PMID:18563736 RGD:2326172 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CAT catalase IEP
EXP
mRNA, protein:decreased expression:lung
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:19684199 PMID:21190578 RGD:5130199 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CAV1 caveolin 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:36053221 PMID:18759267 RGD:8661773 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCL11 C-C motif chemokine ligand 11 IEP
EXP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16314464 PMID:17620002 PMID:17620002 PMID:16314464 RGD:4145458, RGD:4145395 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO
IEP
mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion
RGD PMID:15993846 PMID:19715610 RGD:2306304, RGD:4145488 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
JBrowse link
G CCL19 C-C motif chemokine ligand 19 IEP mRNA:increased expression:lung RGD PMID:17717200 RGD:5130910 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO
EXP
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung, eosinophil (rat)
CTD
RGD
PMID:16324872 PMID:17720292 PMID:26163174 PMID:20833968 PMID:7525714 RGD:4145112, RGD:8549730 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL21 C-C motif chemokine ligand 21 IEP mRNA:increased expression:lung RGD PMID:17717200 RGD:5130910 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO
IEP
mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion
RGD PMID:15993846 PMID:19715610 RGD:2306304, RGD:4145488 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
JBrowse link
G CCL3 C-C motif chemokine ligand 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324872 PMID:17720292 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
JBrowse link
G CCL4 C-C motif chemokine ligand 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17720292 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO
EXP
protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17620002 PMID:20833968 RGD:4145112 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCN2 cellular communication network factor 2 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844 PMID:19154443 RGD:2314537 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14609568 PMID:15743780 RGD:4145065 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO
EXP
associated with Lung Injury
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16314464 PMID:16314464 RGD:4145395 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO mRNA:increased expression:lung RGD PMID:15993846 RGD:2306304 NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,956,349
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO
IEP
mRNA:increased expression:lung (mouse)
protein:decreased expression:lung, lymphocyte (human)
RGD PMID:19762220 PMID:15802346 RGD:4145622, RGD:4892101 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CCR8 C-C motif chemokine receptor 8 ISO mRNA:increased expression:lung RGD PMID:15993846 RGD:2306304 NCBI chr 3:39,329,709...39,333,680
Ensembl chr 3:39,329,709...39,333,680
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:20395561 RGD:4892281 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CD36 CD36 molecule (CD36 blood group) severity ISO associated with Silicosis RGD PMID:19439069 PMID:20056742 RGD:2307220, RGD:6893557 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung, dendritic cell (mouse) RGD PMID:20395561 RGD:4892281 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CDH1 cadherin 1 IEP
ISO
RGD PMID:20495078 PMID:16924102 RGD:5132892, RGD:5132890 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha EXP CTD Direct Evidence: therapeutic CTD PMID:29078374 NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
JBrowse link
G CEBPB CCAAT enhancer binding protein beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17177178 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
JBrowse link
G CFD complement factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:22832039 NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
JBrowse link
G CHI3L1 chitinase 3 like 1 severity IEP protein:increased secretion:serum, lung (human) RGD PMID:20888745 RGD:4892653 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IMP RGD PMID:18480105 RGD:5133440 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
JBrowse link
G CMA1 chymase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15297733 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO associated with Middle East respiratory syndrome; RGD PMID:7511187 PMID:31838832 PMID:17579094 RGD:7257543, RGD:30309204, RGD:11041177 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:7511187 RGD:7257543 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL3A1 collagen type III alpha 1 chain disease_progression EXP
ISO
CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;
CTD
RGD
PMID:26817844 PMID:31838832 RGD:30309204 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CSF2 colony stimulating factor 2 ISO
EXP
mRNA:increased expression:lung:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17894541 PMID:9881949 RGD:10449530 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17894541 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 treatment EXP
IMP
CTD Direct Evidence: marker/mechanism
human recombinant protein in a mouse model
CTD
RGD
PMID:17266442 PMID:17894541 PMID:28011398 RGD:150520199 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:18836137 RGD:5134989 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO associated with Lung Injury RGD PMID:15254596 RGD:5135446 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO associated with Pneumonia
mRNA:increased expression:lung
RGD PMID:14970333 PMID:20959046 RGD:4847792, RGD:4781441 NCBI chr  X:78,271,468...78,327,611
Ensembl chr  X:78,271,468...78,327,691
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15328359 PMID:20497024 PMID:15328359 RGD:4781445, RGD:5143997 NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
JBrowse link
G DEFB1 defensin beta 1 IEP protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNM1L dynamin 1 like ISO
IEP
mRNA,protein:increased expression:lung,mitochondrion RGD PMID:25284615 PMID:25284615 RGD:35673291, RGD:35673291 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G DSP desmoplakin EXP CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G EDN1 endothelin 1 ISO
EXP
IEP
protein:increased expression:lung, airway epithelium, leukocyte (rat)
CTD Direct Evidence: marker/mechanism
Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human)
associated with Scleroderma, Systemic; protein:increased expression:lung (human)
CTD
RGD
PMID:17235729 PMID:9279246 PMID:8099638 PMID:9284832 RGD:4144892, RGD:4144889, RGD:4144866 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EGF epidermal growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17266442 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:increased expression:lung (rat) RGD PMID:7524566 PMID:21177177 PMID:8879184 RGD:5131873, RGD:5131634, RGD:5131638 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EGR1 early growth response 1 disease_progression IEP
ISO
mRNA:increased expression:lung (human)
mRNA:increased expression:lung (mouse)
RGD PMID:19347046 PMID:19679873 PMID:20539010 RGD:4144870, RGD:5131644, RGD:5131877 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:19995276 RGD:10450562 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ELN elastin EXP CTD Direct Evidence: marker/mechanism CTD PMID:10761639 PMID:26817844 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21312187 RGD:5147767 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V severity ISO RGD PMID:11307811 RGD:11564339 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FAM13A family with sequence similarity 13 member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
JBrowse link
G FGF1 fibroblast growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8952537 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15677771 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FN1 fibronectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26817844 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30658076 NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452
JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:23739137 RGD:401700390 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist EXP CTD Direct Evidence: marker/mechanism CTD PMID:17975199 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IEP associated with Scleroderma, Systemic RGD PMID:17044913 RGD:4142516 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HABP2 hyaluronan binding protein 2 ISO RGD PMID:20818495 RGD:11353855 NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
JBrowse link
G HGF hepatocyte growth factor IEP
EXP
associated with myositis;protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16324872 PMID:8952317 RGD:8548628 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HMGB1 high mobility group box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27616297 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15814490 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 ISO protein:decreased expression:lung (rat) RGD PMID:24670792 RGD:10445835 NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A EXP CTD Direct Evidence: therapeutic CTD PMID:37307957 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B EXP CTD Direct Evidence: therapeutic CTD PMID:37307957 NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO mRNA,protein:increased expression:lungs RGD PMID:22227563 RGD:5685632 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:11746186 RGD:12910545 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (rat) RGD PMID:19254480 RGD:4145516 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15286697 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP RGD PMID:15681824 RGD:1626120 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 IEP RGD PMID:15681824 RGD:1626120 NCBI chr 2:216,672,105...216,695,549
Ensembl chr 2:216,672,105...216,695,549
JBrowse link
G IL12B interleukin 12B ISO
EXP
protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12193738 PMID:18598692 PMID:20176803 RGD:4889581, RGD:4888529 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL13 interleukin 13 treatment IEP
EXP
ISO
idiopathic pulmonary fibrosis
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15322207 PMID:19654941 PMID:20176803 PMID:19154443 RGD:4145627, RGD:4888529, RGD:2314537 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL15 interleukin 15 IEP RGD PMID:21309737 RGD:5147438 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL17A interleukin 17A IEP
ISO
Idiopathic Pulmonary Fibrosis
protein:increased expression:lung, bronchioalveolar lavage fluid (rat)
RGD PMID:20176803 PMID:24721403 PMID:18338242 PMID:20176803 RGD:4888529, RGD:9179762, RGD:4889110, RGD:4888529 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 IEP
ISO
idiopathic pulmonary fibrosis; protein:increased expression:lung, serum RGD PMID:15308504 PMID:18598692 RGD:4889841, RGD:4889581 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL18R1 interleukin 18 receptor 1 IEP protein:increased expression:lung RGD PMID:15308504 RGD:4889841 NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777
JBrowse link
G IL1A interleukin 1 alpha IAGP
ISO
idiopathic pulmonary fibrosis; DNA:polymorphism:promoter:
mRNA, protein:increased expression:alveolar macrophage:
RGD PMID:17309781 PMID:9100454 RGD:4142803, RGD:4142838 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta ISO
EXP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
CTD
RGD
PMID:17266442 PMID:23640035 PMID:19945540 PMID:23132788 PMID:20522787 RGD:4142813, RGD:7193137, RGD:4142535 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility
disease_progression
IAGP
EXP
IEP
DNA:polymorphism (human)
CTD Direct Evidence: therapeutic
protein:increased expression:lung
CTD
RGD
PMID:18403674 PMID:10934117 PMID:17056243 PMID:7767546 RGD:4143177, RGD:4142874, RGD:4143194 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL4 interleukin 4 treatment ISO
EXP
associated with Silicosis;protein:increased expression:respiratory system fluid/secretion
CTD Direct Evidence: marker/mechanism
associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung
CTD
RGD
PMID:12574379 PMID:15322207 PMID:20490462 PMID:24269241 PMID:20861649 RGD:5128555, RGD:10402793, RGD:5128548 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL5 interleukin 5 ISO
EXP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung
CTD
RGD
PMID:17620002 PMID:14975941 PMID:17986108 RGD:4890954, RGD:4890942 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G IL6 interleukin 6 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17266442 PMID:25216247 PMID:20846163 RGD:4143241 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL9 interleukin 9 ISO associated with Silicosis RGD PMID:11306428 RGD:5128702 NCBI chr 5:135,892,246...135,895,841
Ensembl chr 5:135,892,246...135,895,841
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO protein:increased expression:lung RGD PMID:27982686 RGD:155663660 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G KIF15 kinesin family member 15 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:35417304 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
JBrowse link
G LAMB1 laminin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28444932 NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213
JBrowse link
G LEPR leptin receptor ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21317313 RGD:5128773 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LIAS lipoic acid synthetase EXP CTD Direct Evidence: therapeutic CTD PMID:32017981 NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:20301779 PMID:21931702 PMID:25741868 PMID:28492532 PMID:30995915 More... NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC110806306 telomerase RNA component (TERC) promoter IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 More... NCBI chr 3:169,764,689...169,765,858 JBrowse link
G MBL2 mannose binding lectin 2 IAGP associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:18637104 RGD:4889479 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MECP2 methyl-CpG binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21435439 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MFN2 mitofusin 2 treatment ISO RGD PMID:24912636 RGD:13204824 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MIR100HG mir-100-let-7a-2-mir-125b-1 cluster host gene EXP CTD Direct Evidence: therapeutic CTD PMID:35472619 NCBI chr11:122,028,329...122,422,871
Ensembl chr11:122,028,325...122,556,721
JBrowse link
G MIR101-1 microRNA 101-1 EXP CTD Direct Evidence: therapeutic CTD PMID:28726637 NCBI chr 1:65,058,434...65,058,508
Ensembl chr 1:65,058,434...65,058,508
JBrowse link
G MIR10A microRNA 10a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947
JBrowse link
G MIR122 microRNA 122 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
JBrowse link
G MIR125A microRNA 125a EXP CTD Direct Evidence: therapeutic CTD PMID:30658076 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
JBrowse link
G MIR140 microRNA 140 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:25926378 PMID:32462952 NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
JBrowse link
G MIR145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MIR193A microRNA 193a EXP CTD Direct Evidence: therapeutic CTD PMID:30744607 NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
JBrowse link
G MIR200C microRNA 200c EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:25926378 PMID:29113749 NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766
JBrowse link
G MIR21 microRNA 21 treatment ISO RGD PMID:29084974 RGD:41404715 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MIR223 microRNA 223 disease_progression ISO RGD PMID:32329871 RGD:25824948 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979
JBrowse link
G MIR23C microRNA 23c EXP CTD Direct Evidence: therapeutic CTD PMID:29216763 NCBI chr  X:20,017,088...20,017,187
Ensembl chr  X:20,017,088...20,017,187
JBrowse link
G MIR26B microRNA 26b EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 2:218,402,646...218,402,722
Ensembl chr 2:218,402,646...218,402,722
JBrowse link
G MIR29C microRNA 29c EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939
JBrowse link
G MIR30A microRNA 30a EXP
ISO
CTD Direct Evidence: marker/mechanism
RNA:decreased expression:lung
CTD
RGD
PMID:25926378 PMID:25284615 RGD:35673291 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621
JBrowse link
G MIR326 microRNA 326 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr11:75,335,092...75,335,186
Ensembl chr11:75,335,092...75,335,186
JBrowse link
G MIR345 microRNA 345 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr14:100,307,859...100,307,956
Ensembl chr14:100,307,859...100,307,956
JBrowse link
G MIR378A microRNA 378a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 5:149,732,825...149,732,890
Ensembl chr 5:149,732,825...149,732,890
JBrowse link
G MIR425 microRNA 425 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 3:49,020,148...49,020,234
Ensembl chr 3:49,020,148...49,020,234
JBrowse link
G MIR451A microRNA 451a EXP CTD Direct Evidence: therapeutic CTD PMID:34460027 NCBI chr17:28,861,369...28,861,440
Ensembl chr17:28,861,369...28,861,440
JBrowse link
G MIR490 microRNA 490 EXP CTD Direct Evidence: therapeutic CTD PMID:33482250 NCBI chr 7:136,903,167...136,903,294
Ensembl chr 7:136,903,167...136,903,294
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:22571259 RGD:7207277 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21468558 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:21871427 RGD:8694097 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO
EXP
protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21468558 PMID:17121240 PMID:23318412 RGD:1642054, RGD:13204970 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MT2A metallothionein 2A ISO CTD Direct Evidence: therapeutic CTD PMID:18528683 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G MTOR mechanistic target of rapamycin kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28936961 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO mRNA, protein:increased expression:lung
mRNA:increased expression:lung
RGD PMID:14680076 PMID:19154443 RGD:5131207, RGD:2314537 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23570914 PMID:19138753 RGD:6893396 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NGF nerve growth factor IEP protein:increased expression:sputum RGD PMID:12917229 RGD:4891121 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:17576803 RGD:5144067 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NKX2-5 NK2 homeobox 5 ISO mRNA:decreased expression:lung, fibroblast RGD PMID:19395679 RGD:5131637 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:20668217 RGD:4891482 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:lung RGD PMID:27982686 RGD:155663660 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA, protein:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:35654123 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:9736620 PMID:16199547 PMID:25741868 PMID:25848748 PMID:26482878 More... NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27704718 PMID:23260200 RGD:10413908 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PDGFA platelet derived growth factor subunit A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16324872 NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15286697 PMID:21868503 PMID:22523431 RGD:6482756, RGD:6482831 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO RGD PMID:9458803 RGD:11080970 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PLAU plasminogen activator, urokinase treatment IDA
ISO
human protein in rat model RGD PMID:7516275 PMID:23327706 PMID:12376355 RGD:7241204, RGD:7241544, RGD:7241206 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PSEN2 presenilin 2 ISO RGD PMID:10518543 RGD:1302521 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO
IAGP
associated with sarcoidosis; DNA:SNP: :-765G>C (human) RGD PMID:17825173 PMID:21681100 RGD:1642597, RGD:5135504 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G PTX3 pentraxin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22210019 NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 More... NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 More... NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 IEP
ISO
associated with scleroderma, systemic; protein:increased expression:serum:
mRNA,protein:decreased expression:lung
RGD PMID:21239758 PMID:16369113 RGD:5144130, RGD:5144139 NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
JBrowse link
G SCGB3A2 secretoglobin family 3A member 2 ISO RGD PMID:21478551 RGD:5144129 NCBI chr 5:147,878,711...147,882,191
Ensembl chr 5:147,870,682...147,882,191
JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:72955 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO
IDA
protein:increased activity:plasma
Idiopathic Pulmonary Fibrosis
RGD PMID:16224526 PMID:22659625 PMID:20061390 RGD:4144842, RGD:8547927, RGD:4143513 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SFTPA1 surfactant protein A1 disease_progression
susceptibility
IEP
IAGP
mRNA:increased expression:lung
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
protein:decreased expression:lung
RGD PMID:19347046 PMID:13680361 PMID:10543276 RGD:4144870, RGD:4143409, RGD:4143437 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:19100526 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPB surfactant protein B susceptibility IAGP DNA:polymorphism (human) RGD PMID:13680361 RGD:4143409 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C susceptibility IAGP
ISO
DNA:polymorphisms: :p.M71V, p.I73T (human)
ClinVar Annotator: match by term: Pulmonary fibrosis
ClinVar
RGD
PMID:15039969 PMID:15293602 PMID:15572558 PMID:15756222 PMID:17597647 More... RGD:4144060, RGD:4144124 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SKIL SKI like proto-oncogene EXP CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr 3:170,357,715...170,396,849
Ensembl chr 3:170,357,342...170,396,835
JBrowse link
G SMAD4 SMAD family member 4 treatment ISO associated with Silicosis RGD PMID:21941776 PMID:22558986 RGD:12880047, RGD:12880048 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G SMAD7 SMAD family member 7 EXP CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965
JBrowse link
G SNHG6 small nucleolar RNA host gene 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35785413 NCBI chr 8:66,921,690...66,925,541
Ensembl chr 8:66,920,561...66,926,398
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26699812 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD3 superoxide dismutase 3 EXP CTD Direct Evidence: therapeutic CTD PMID:15298984 NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO associated with Middle East respiratory syndrome;mRNA:increased expression:lung: RGD PMID:31838832 RGD:30309204 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
JBrowse link
G SPP1 secreted phosphoprotein 1 EXP
ISO
CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;mRNA:increased expression:lung:
CTD
RGD
PMID:25216247 PMID:31838832 RGD:30309204 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO RGD PMID:16806015 RGD:1600092 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30658076 PMID:22684844 RGD:6892915 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STAT6 signal transducer and activator of transcription 6 EXP CTD Direct Evidence: therapeutic CTD PMID:26699812 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 treatment ISO RGD PMID:32506869 RGD:155663374 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
JBrowse link
G TERC telomerase RNA component IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 More... NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17264120 More... NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFPI tissue factor pathway inhibitor treatment IDA RGD PMID:16338226 RGD:11062084 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G TGFA transforming growth factor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment IMP
ISO
EXP
associated with Middle East respiratory syndrome;mRNA:increased expression:lung
CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
associated with Silicosis
associated with Asthma
CTD
RGD
PMID:15286001 PMID:16324872 PMID:16365456 PMID:17266442 PMID:19817698 More... RGD:4145279, RGD:30309204, RGD:14995444, RGD:4145112, RGD:2307220, RGD:4145133 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO RGD PMID:17077588 RGD:1601591 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21468558 PMID:23318412 RGD:13204970 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis ClinVar PMID:18252230 PMID:21536674 PMID:28492532 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TLR2 toll like receptor 2 ISO associated with Pneumonia RGD PMID:20610040 PMID:19109203 RGD:4144177, RGD:4145324 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR4 toll like receptor 4 ISO associated with acute lung injury RGD PMID:20610040 PMID:20017955 RGD:4144177, RGD:4144120 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR9 toll like receptor 9 IEP mRNA:increased expression:lung (human) RGD PMID:18633634 RGD:5130206 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor treatment ISO
EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter
CTD
RGD
PMID:11394717 PMID:16324872 PMID:17266442 PMID:25216247 PMID:26368622 More... RGD:4142851, RGD:2314537, RGD:4143258, RGD:4143417 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IEP mRNA:increased expression:lung RGD PMID:19893041 RGD:5131599 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
G VWF von Willebrand factor ISO associated with Radiation Injuries;protein:increased expression:lung parenchyma RGD PMID:8811296 RGD:11079207 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1
ClinVar PMID:16199547 PMID:16247010 PMID:17392301 PMID:17460043 PMID:19489057 More... NCBI chr 5:1,294,628...1,298,988 JBrowse link
G TERT telomerase reverse transcriptase IAGP
EXP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 More... NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110806306 telomerase RNA component (TERC) promoter IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2
ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More... NCBI chr 3:169,764,689...169,765,858 JBrowse link
G TERC telomerase RNA component IAGP
EXP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2
ClinVar
CTD
OMIM
PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More... NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G FNDC11 fibronectin type III domain containing 11 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,553,020...63,556,708
Ensembl chr20:63,547,891...63,556,695
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,587,605...63,627,101
Ensembl chr20:63,587,602...63,627,101
JBrowse link
G HELZ2 helicase with zinc finger 2 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206
JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP
EXP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 More... NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23329068 PMID:23453664 More... NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749
JBrowse link
G STMN3 stathmin 3 IAGP ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARN poly(A)-specific ribonuclease IAGP
EXP
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4
OMIM
ClinVar
CTD
PMID:9736620 PMID:16199547 PMID:16281054 PMID:22834816 PMID:25741868 More... NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZCCHC8 zinc finger CCHC-type containing 8 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:31488579 NCBI chr12:122,471,600...122,500,932
Ensembl chr12:122,471,600...122,500,932
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPA1 replication protein A1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
ClinVar Annotator: match by term: RPA1-related short telomere syndrome
OMIM
ClinVar
PMID:25741868 PMID:34767620 NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP ClinVar Annotator: match by term: NAF1-related condition
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
OMIM
ClinVar
PMID:25741868 PMID:27510903 PMID:28492532 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 ClinVar
OMIM
PMID:35420632 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOP10 NOP10 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 OMIM
ClinVar
PMID:32139460 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
pulmonary sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase severity IAGP RGD PMID:9036208 RGD:5128833 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024
JBrowse link
G ADA adenosine deaminase IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:10410539 RGD:5128856 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G BDNF brain derived neurotrophic factor IEP RGD PMID:16315781 RGD:4891110 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G C3 complement C3 IEP protein:altered expression:lung RGD PMID:18069416 RGD:5129502 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CCL19 C-C motif chemokine ligand 19 IEP mRNA, protein:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
JBrowse link
G CCL5 C-C motif chemokine ligand 5 IEP mRNA:increased expression:lung:bronchoalveolar lavage cell (human) RGD PMID:10384061 RGD:4891436 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCR5 C-C motif chemokine receptor 5 disease_progression IEP
IAGP
protein:altered expression:lung, lymphocyte, macrophage (human)
DNA:polymorphisms:5' utr:multiple (human)
RGD PMID:11790661 PMID:19679608 RGD:4892099, RGD:4892066 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CCR7 C-C motif chemokine receptor 7 IEP mRNA:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,553,769...40,565,472
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP DNA:mutations:whole blood : RGD PMID:20722470 RGD:4139905 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:serum (human) RGD PMID:15763444 RGD:4892634 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CRP C-reactive protein severity IEP RGD PMID:21086905 RGD:5131289 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:17550373 PMID:9834133 RGD:5135438, RGD:5135492 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 IEP protein:increased expression:serum RGD PMID:17550373 RGD:5135438 NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 disease_progression IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:17052298 RGD:5135244 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 IEP protein:increased expression:serum, respiratory system fluid/secretion RGD PMID:17550373 RGD:5135438 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 IEP protein:increased expression:respiratory system fluid/secretion, T cell RGD PMID:9834133 RGD:5135492 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G CYBA cytochrome b-245 alpha chain no_association IAGP DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G DEFB1 defensin beta 1 IEP protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
JBrowse link
G EGR1 early growth response 1 IEP protein:increased expression:lung (human) RGD PMID:16933469 RGD:5131899 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility
severity
IAGP DNA:polymorphism:cds:DRB1*15 (human)
DNA:polymorphism:cds:DRB1*03 (human)
RGD PMID:15881283 PMID:15881283 RGD:40818305, RGD:40818305 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HMOX1 heme oxygenase 1 IEP protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IL15 interleukin 15 IEP mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:bronchoalveolar lavage fluid
protein:increased expression:serum
RGD PMID:16734560 PMID:11174201 RGD:4889823, RGD:4889863 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL18R1 interleukin 18 receptor 1 severity IEP RGD PMID:14641797 RGD:5024944 NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP RGD PMID:8239179 RGD:4143198 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G LTA lymphotoxin alpha susceptibility IAGP DNA:SNP:intron: RGD PMID:15713215 RGD:4143248 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:serum RGD PMID:14665489 RGD:5131177 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G NGF nerve growth factor IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781 PMID:21059230 RGD:4891110, RGD:5144061 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 disease_progression IAGP DNA:polymorphism:exon:2104C>T (human) RGD PMID:19679608 RGD:4892066 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NOS2 nitric oxide synthase 2 IEP protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IEP protein:increased expression:lung RGD PMID:2255800 RGD:4892566 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G NTF3 neurotrophin 3 disease_progression IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781 PMID:21059230 RGD:4891110, RGD:5144061 NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IEP protein:increased expression: : RGD PMID:16315781 RGD:4891110 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G SFTPA1 surfactant protein A1 IEP protein:decreased expression:lung RGD PMID:10543276 RGD:4143437 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G TGFB1 transforming growth factor beta 1 severity IAGP DNA:polymorphisms: :-509C>T (human) RGD PMID:17785866 RGD:4145294 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 IEP
ISO
mRNA:decreased expression:alveolar macrophage RGD PMID:20813038 PMID:23668840 RGD:4145301, RGD:8553184 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TNC tenascin C IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:9780295 RGD:4889595 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
JBrowse link
G TNF tumor necrosis factor IDA
IAGP
DNA:polymorphism:promoter RGD PMID:15653992 PMID:20070603 RGD:4143466, RGD:4143236 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP protein:increased expression:serum (human) RGD PMID:21508170 RGD:5131275 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G VIP vasoactive intestinal peptide IDA RGD PMID:20442436 RGD:5685623 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G RAB5B RAB5B, member RAS oncogene family IAGP ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder ClinVar PMID:25741868 PMID:35121658 NCBI chr12:55,973,949...55,996,683
Ensembl chr12:55,973,913...55,996,683
JBrowse link
G SFTPB surfactant protein B IAGP
EXP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7491219 PMID:8163685 PMID:9506635 PMID:9682215 PMID:9973546 More... NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP1 bone morphogenetic protein 1 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G LOC129999976 ATAC-STARR-seq lymphoblastoid silent region 18982 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 ClinVar NCBI chr 8:22,164,628...22,165,667 JBrowse link
G SFTPC surfactant protein C IAGP
EXP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:5942662 PMID:11207353 PMID:11893657 PMID:11991887 PMID:12538769 More... NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 ClinVar PMID:10729113 PMID:10909849 PMID:19881469 PMID:20507924 PMID:24033266 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP
EXP
ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency
ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G LOC130058230 ATAC-STARR-seq lymphoblastoid silent region 7042 IAGP ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency ClinVar NCBI chr16:2,340,579...2,341,038 JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP
EXP
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 More... NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G LOC126863140 BRD4-independent group 4 enhancer GRCh37_chr22:37321546-37322745 IAGP ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:36,925,504...36,926,703 JBrowse link
Radiation Pneumonitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:1886988 RGD:4890434 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ATM ATM serine/threonine kinase susceptibility IAGP associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A (rs189037, s373759) (human) RGD PMID:20171797 RGD:150340755 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G C3 complement C3 IEP Protein: increased expression: plasma RGD PMID:20510197 RGD:5129484 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C4BPA complement component 4 binding protein alpha IEP Protein: increased expression: plasma RGD PMID:20510197 RGD:5129484 NCBI chr 1:207,104,233...207,144,972
Ensembl chr 1:207,104,233...207,144,972
JBrowse link
G CBLB Cbl proto-oncogene B susceptibility IAGP associated with lung non-small cell carcinoma; DNA:SNP,haplotype: :rs2305035(human) RGD PMID:26732495 RGD:150540334 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA, protein:increased expression:lung, alveolar macrophage RGD PMID:15293604 RGD:4145517 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:lung, alveolar macrophage RGD PMID:15293604 RGD:4145517 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
JBrowse link
G IL13 interleukin 13 susceptibility IAGP associated with carcinoma, non-small-cell lung; DNA:SNPs: :rs20541, rs180925 (human) RGD PMID:20811626 RGD:5131286 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL1A interleukin 1 alpha susceptibility IAGP associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1800587,rs17561(human) RGD PMID:20811626 RGD:5131286 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G MIF macrophage migration inhibitory factor susceptibility IAGP associated with carcinoma, non-small-cell lung; DNA:SNP: :rs755622(human) RGD PMID:20811626 RGD:5131286 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP associated with carcinoma, non-small-cell lung;DNA:SNP:cds:c.894G>T rs1799983 (human) RGD PMID:20811626 RGD:5131286 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G SFTPD surfactant protein D susceptibility IEP RGD PMID:20459699 RGD:4143486 NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
JBrowse link
G TGFB1 transforming growth factor beta 1 susceptibility IEP
ISO
IAGP
protein:increased expression:blood
DNA:SNP:exon:869T>C (rs1982073) (human)
RGD PMID:19943923 PMID:18411002 PMID:19380441 RGD:4145121, RGD:4145278, RGD:4145136 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNF tumor necrosis factor susceptibility IAGP associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) RGD PMID:20811626 RGD:5131286 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:18347190 RGD:5131153 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G VTN vitronectin IEP Protein: increased expression: plasma RGD PMID:20510197 RGD:5129484 NCBI chr17:28,367,284...28,370,307
Ensembl chr17:28,367,284...28,373,091
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications ClinVar PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More... NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP
EXP
ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 PMID:29979980 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 OMIM
ClinVar
PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614 PMID:35918773 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
JBrowse link
G FARSA-AS1 FARSA antisense RNA 1 IAGP ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 ClinVar PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614 NCBI chr19:12,930,522...12,933,296
Ensembl chr19:12,930,522...12,933,296
JBrowse link
sick building syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23418070 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
silicosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22273745 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G ARG1 arginase 1 ISO
EXP
mRNA:increased expression:lung (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15292275 PMID:17365572 RGD:4143368 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO mRNA:altered expression:lung (rat) RGD PMID:18685790 RGD:4893904 NCBI chr 2:218,217,189...218,254,348
Ensembl chr 2:218,217,141...218,254,356
JBrowse link
G C3 complement C3 IAGP DNA:polymorphism (human) RGD PMID:12096683 RGD:5129516 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAV1 caveolin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36053221 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26163174 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO RGD PMID:21830856 RGD:6483764 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
JBrowse link
G CD36 CD36 molecule (CD36 blood group) treatment ISO RGD PMID:24053919 RGD:11041147 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CHIA chitinase acidic ISO mRNA:increased expression:lung (rat) RGD PMID:18685790 RGD:4893904 NCBI chr 1:111,290,851...111,320,563
Ensembl chr 1:111,290,851...111,320,566
JBrowse link
G CPM carboxypeptidase M EXP CTD Direct Evidence: marker/mechanism CTD PMID:24986923 NCBI chr12:68,842,197...68,963,469
Ensembl chr12:68,842,197...68,971,570
JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:serum: RGD PMID:21505002 RGD:10450467 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP RGD PMID:16831302 RGD:4891515 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G EGR1 early growth response 1 ISO protein:increased expression:lung, epithelial cell, macrophage (rat) RGD PMID:15033019 RGD:5131937 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G ELN elastin ISO protein:increased expression:lung connective tissue: RGD PMID:7573374 RGD:9585691 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:37979906 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism: :HLA-DQB1*0402(human) RGD PMID:11776400 RGD:36049758 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HMOX1 heme oxygenase 1 ISO
IEP
protein:increased expression:serum, lung RGD PMID:16858012 PMID:16858012 RGD:4145384, RGD:4145384 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 ISO protein:increased expression:lung RGD PMID:19534998 RGD:10059658 NCBI chr 2:177,212,794...177,223,959
Ensembl chr 2:177,212,694...177,223,959
JBrowse link
G IFT88 intraflagellar transport 88 ISO protein:decreased expression:lung RGD PMID:32042332 RGD:155791682 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
JBrowse link
G IL17A interleukin 17A ISO mRNA, protein:increased expression:lung RGD PMID:20421647 RGD:4888525 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:23640035 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility
treatment
IAGP
ISO
DNA:SNP (human) RGD PMID:11264025 PMID:23842733 RGD:4142816, RGD:8551847 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO RGD PMID:21072213 RGD:4891500 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:27621875 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
JBrowse link
G KIF3A kinesin family member 3A ISO
IEP
protein:decreased expression:lung
protein:increased expression:respiratory system fluid/secretion:
RGD PMID:32042332 PMID:32042332 RGD:155791682, RGD:155791682 NCBI chr 5:132,688,812...132,737,546
Ensembl chr 5:132,692,628...132,737,638
JBrowse link
G MARCO macrophage receptor with collagenous structure treatment ISO RGD PMID:30391304 RGD:41412200 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA:increased expression:lung, fibroblast RGD PMID:9614183 RGD:10043156 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G NOS2 nitric oxide synthase 2 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15292275 PMID:15205031 RGD:4891445 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NPM1 nucleophosmin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:37399107 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G PDZRN4 PDZ domain containing ring finger 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24986923 NCBI chr12:41,188,320...41,574,745
Ensembl chr12:41,188,320...41,574,745
JBrowse link
G PRKCB protein kinase C beta ISO protein:increased activation:alveolar macrophage RGD PMID:14680365 RGD:1625527 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:27621875 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO mRNA:decreased expression:lung (rat) RGD PMID:29230030 RGD:152977761 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:lung (rat) RGD PMID:29230030 RGD:152977761 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TNF tumor necrosis factor treatment IAGP
ISO
DNA:polymorphisms: : RGD PMID:11264025 PMID:25199287 RGD:4142816, RGD:10450591 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:11208652 RGD:5131150 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:11208652 RGD:5131150 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
Silicotuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STING1 stimulator of interferon response cGAMP interactor 1 severity ISO RGD PMID:31141689 RGD:39128194 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
Surfactant Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction
ClinVar Annotator: match by term: Pulmonary Surfactant Metabolism Dysfunction, Recessive | ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction
ClinVar PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:24033266 PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G SFTPB surfactant protein B IAGP ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:7491219 PMID:9506635 PMID:9973546 PMID:10571948 PMID:10712351 More... NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:11893657 PMID:14735158 PMID:15039969 PMID:15293602 PMID:15516475 More... NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      musculoskeletal system disease 11817
        connective tissue disease 7576
          interstitial lung disease 533
            Goodpasture syndrome + 53
            INTERSTITIAL LUNG AND LIVER DISEASE 9
            Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
            Langerhans-cell histiocytosis + 1
            Pulmonary Surfactant Metabolism Dysfunction 1 4
            Pulmonary Surfactant Metabolism Dysfunction 2 4
            Pulmonary Surfactant Metabolism Dysfunction 3 2
            Pulmonary Surfactant Metabolism Dysfunction 5 2
            Radiation Pneumonitis 16
            Rajab Interstitial Lung Disease with Brain Calcifications + 3
            Surfactant Dysfunction 4
            autoimmune interstitial lung, joint, and kidney disease 93
            bronchiolitis obliterans + 37
            desquamative interstitial pneumonia 1
            extrinsic allergic alveolitis + 29
            granulomatosis with polyangiitis + 12
            idiopathic interstitial pneumonia + 94
            interstitial lung disease 1 1
            pneumoconiosis + 99
            pulmonary fibrosis + 276
            pulmonary sarcoidosis + 41
            rheumatoid arthritis interstitial lung disease 0
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      respiratory system disease 4145
        lower respiratory tract disease 2546
          lung disease 2501
            interstitial lung disease 533
              Goodpasture syndrome + 53
              INTERSTITIAL LUNG AND LIVER DISEASE 9
              Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome 1
              Langerhans-cell histiocytosis + 1
              Pulmonary Surfactant Metabolism Dysfunction 1 4
              Pulmonary Surfactant Metabolism Dysfunction 2 4
              Pulmonary Surfactant Metabolism Dysfunction 3 2
              Pulmonary Surfactant Metabolism Dysfunction 5 2
              Radiation Pneumonitis 16
              Rajab Interstitial Lung Disease with Brain Calcifications + 3
              Surfactant Dysfunction 4
              autoimmune interstitial lung, joint, and kidney disease 93
              bronchiolitis obliterans + 37
              desquamative interstitial pneumonia 1
              extrinsic allergic alveolitis + 29
              granulomatosis with polyangiitis + 12
              idiopathic interstitial pneumonia + 94
              interstitial lung disease 1 1
              pneumoconiosis + 99
              pulmonary fibrosis + 276
              pulmonary sarcoidosis + 41
              rheumatoid arthritis interstitial lung disease 0
paths to the root