interstitial lung disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

show annotations for term's descendants Sort by:
Rat (503) Mouse (508) Human (3557) Chinchilla (431) Bonobo (474) Dog (487) Squirrel (442) Pig (481) Green Monkey (462) Naked Mole-rat (430) All
Genes (498) QTL (3) Strains (2)

interstitial lung disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Interstitial lung disease

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

adaptor related protein complex 3 subunit beta 1

associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human)

RGD

NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935

G

brain-derived neurotrophic factor

associated with Sjogren's Syndrome;protein:decreased expression:serum:

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

C-C motif chemokine ligand 17

protein:increased expression:serum

RGD

NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819

G

C-C motif chemokine ligand 2

treatment

associated with Scleroderma, Systemic;protein:increased expression:plasma
associated with Arthritis, Rheumatoid;protein:increased expression:serum
associated with Scleroderma, Systemic;protein:increased expression:respiratory system fluid/secretion

RGD

PMID:20404807 PMID:1387671 PMID:20056091 PMID:19615053

RGD:4142853, RGD:8549558, RGD:4891442, RGD:4891453

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 5

mRNA:increased expression:lung (mouse)

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine receptor 2

severity

protein:increased expression: T cell

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 5

associated with Scleroderma, Systemic; protein:increased expression:blood, T cell (human)

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

Cd28 molecule

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

chymase 1

protein:increased expression:lung, mast cell (human)

RGD

NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233

G

COPI coat complex subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874

G

C-X-C motif chemokine ligand 10

protein:increased expression:alveolar macrophage
protein:increased expression:serum

RGD

PMID:19816001 PMID:19565490

RGD:5135305, RGD:5135306

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 9

protein:increased expression:alveolar macrophage
protein:increased expression:serum

RGD

PMID:19816001 PMID:19565490

RGD:5135305, RGD:5135306

NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435

G

desmin

ClinVar Annotator: match by term: Interstitial lung disease

PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More...

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

endoglin

ClinVar Annotator: match by term: Interstitial pneumonitis

PMID:25741868 PMID:28492532

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

phenylalanyl-tRNA synthetase subunit beta

ClinVar Annotator: match by term: Interstitial pneumonitis

NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045

G

hepatocyte growth factor

severity

associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human)

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

heme oxygenase 1

Idiopathic Interstitial Pneumonias;protein:increased expression:lung

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Interstitial pneumonitis

PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More...

NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522

G

interleukin 18

associated with dermatomyositis; protein:increased expression:serum
associated with Pseudomonas Infection; protein:increased expression:lung

RGD

PMID:20601655 PMID:21257923 PMID:20543002

RGD:4889547, RGD:5144220, RGD:4889883

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

susceptibility

associated with sclerosis: DNA:SNPs:5' UTR, exon, intron:
associated with Immune Complex Diseases

RGD

PMID:12528118 PMID:1826836

RGD:4142806, RGD:7794767

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 receptor antagonist

protein:increased expression:alveolar macrophage
associated with Scleroderma, Systemic;protein:increased expression:plasma

RGD

PMID:8342915 PMID:20404807

RGD:4143199, RGD:4142853

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4 receptor

Idiopathic Interstitial Pneumonias

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

KIT proto-oncogene receptor tyrosine kinase

RGD

NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652

G

matrix metallopeptidase 9

associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid

RGD

PMID:17643278 PMID:20185904

RGD:5130207, RGD:5130857

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myeloperoxidase

associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid

RGD

NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819

G

mucin 1, cell surface associated

severity

protein:increased expression:serum
associated with Scleroderma, Systemic;protein:increased expression:serum

RGD

PMID:15088311 PMID:19286849 PMID:15654008

RGD:5131176, RGD:4143496, RGD:5131173

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

nerve growth factor

associated with Sjogren's Syndrome;protein:increased expression:serum:

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nitric oxide synthase 2

protein:increased expression:lung

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nuclear receptor subfamily 3, group C, member 1

disease_progression

protein:increased expression:lung

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

peptidyl arginine deiminase 4

ClinVar Annotator: match by term: Interstitial lung disease

NCBI chr 5:153,041,351...153,074,412
Ensembl chr 5:153,041,352...153,074,362

G

serpin family E member 1

susceptibility

Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human)

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

surfactant protein A1

protein:increased expression:serum
protein:decreased expression:lung

RGD

PMID:9216212 PMID:11445799

RGD:4143449, RGD:4143430

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

surfactant protein B

associated with Scleroderma, Systemic;DNA:SNP: :p.T131I (rs1130866) (human)
protein:decreased expression:lung

RGD

PMID:18263595 PMID:11445799

RGD:4143377, RGD:4143430

NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436

G

surfactant protein C

susceptibility

DNA:missense mutation:exon:p.I73T (human)
ClinVar Annotator: match by term: Interstitial lung disease
protein:decreased expression:lung
DNA:mutations: :multiple (human)
DNA:polymorphism:exon:p.N186S (human)

PMID:25741868 PMID:15756222 PMID:12519727 PMID:11445799 PMID:19443464 More...

RGD:4143400, RGD:4143413, RGD:4143430, RGD:4144064, RGD:4144126

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

G

surfactant protein D

protein:increased expression:serum
associated with Scleroderma, Systemic;protein:increased expression:serum

RGD

PMID:9216212 PMID:19286849

RGD:4143449, RGD:4143496

NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Interstitial pneumonitis

PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More...

NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Interstitial lung disease

PMID:25741868 PMID:28492532 PMID:31268371

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

transforming growth factor, beta 1

associated with Arthritis, Rheumatoid;protein:increased expression:serum

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 9

mRNA, protein:increased expression:lung (human)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: Interstitial lung disease

PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More...

NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987

anthracosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687

G

flagellum associated containing coiled-coil domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

CTD Direct Evidence: marker/mechanism

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

RNA binding motif protein 26

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

anti-basement membrane glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma

RGD

PMID:21282555 PMID:7550093

RGD:5129185, RGD:11039051

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

protein:increased expression:kidney

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

BCL2 associated X, apoptosis regulator

mRNA, protein:increased expression:kidney

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

mRNA, protein:decreased expression:kidney

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

C-C motif chemokine ligand 17

mRNA:increased expression:glomerulus

RGD

NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819

G

C-C motif chemokine ligand 2

treatment

mRNA:increased expression:glomerulus

RGD

PMID:17898087 PMID:20071465 PMID:21894146

RGD:2307059, RGD:4145614, RGD:6218988

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 22

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine ligand 4

mRNA:increased expression:glomerulus

RGD

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine ligand 5

mRNA:increased expression:glomerulus

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

CD274 molecule

treatment

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

Cd80 molecule

RGD

NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030

G

complement factor B

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

clusterin

protein:increased expression:urine

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

colony stimulating factor 1

treatment

RGD

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

colony stimulating factor 1 receptor

treatment
ameliorates

RGD

PMID:19242505 PMID:21519331

RGD:7257569, RGD:151665824

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

cytotoxic T-lymphocyte-associated protein 4

treatment

RGD

PMID:10712436 PMID:8206086 PMID:10712436

RGD:6902936, RGD:11352257, RGD:6902936

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

C-X3-C motif chemokine ligand 1

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

C-X-C motif chemokine ligand 12

mRNA:increased expression:glomerulus

RGD

NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168

G

dual specificity phosphatase 1

mRNA:increased expression:glomerulus

RGD

NCBI chr10:16,680,478...16,683,275

G

Fc gamma receptor 3A

no_association

DNA:cnv: :
DNA:polymorphism:exon:(rs396991)(human)

RGD

PMID:19946017 PMID:19640933

RGD:5508400, RGD:5508403

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

glycoprotein VI

RGD

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326

G

interleukin 10

treatment

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 17A

treatment

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney

RGD

PMID:22046355 PMID:9198037

RGD:6893447, RGD:7401232

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 4

RGD

PMID:9350645 PMID:17898087

RGD:2317673, RGD:2307059

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

integrin subunit alpha 4

treatment

RGD

PMID:9032136 PMID:7679412

RGD:2308810, RGD:9698425

NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715

G

mitogen activated protein kinase 14

RGD

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

mitogen-activated protein kinase 8

RGD

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

macrophage migration inhibitory factor

RGD

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504

G

matrix metallopeptidase 12

RGD

NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611

G

matrix metallopeptidase 14

mRNA:increased expression:kidney, macrophage

RGD

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

nitric oxide synthase 2

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

natriuretic peptide B

RGD

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

programmed cell death 1

treatment

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

platelet factor 4

treatment

RGD

NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365

G

peroxisome proliferator activated receptor alpha

RGD

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

protein tyrosine kinase 2 beta

protein:increased expression:glomerulus

RGD

NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282

G

Rap guanine nucleotide exchange factor 1

protein:increased expression:renal glomerulus

RGD

NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

selectin P

RGD

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

G

solute carrier family 34 member 1

protein:decreased expression:kidney, brush border membrane (mouse)

RGD

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

G

slit guidance ligand 2

mRNA:decreased expression:kidney, glomerulus

RGD

NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

spleen associated tyrosine kinase

RGD

NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410

G

tumor necrosis factor

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

vascular cell adhesion molecule 1

protein:increased expression:urine, serum:

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

X-C motif chemokine ligand 1

mRNA:increased expression:glomerulus

RGD

NCBI chr13:77,248,687...77,252,343
Ensembl chr13:77,248,717...77,252,329

asbestosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arginase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422

G

activating transcription factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177

G

complement factor D

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053

G

chloride channel accessory 1

mRNA, protein:increased expression:lung

RGD

NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369

G

cytochrome P450, family 2, subfamily e, polypeptide 1

mRNA:decreased expression:leukocyte

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

DNA-damage inducible transcript 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201

G

epoxide hydrolase 1

susceptibility

DNA:SNP:exon:p.Y113H (rs1051740) (human)

RGD

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion: :

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

NLR family, pyrin domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:lung

CTD
RGD

PMID:12160931 PMID:12160931 PMID:12051993

RGD:4891441, RGD:4891438

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

peroxiredoxin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856

G

peroxiredoxin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

PMID:16221779 PMID:21514415

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

tenascin C

protein:increased expression:pleura

RGD

NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

PMID:8473757 PMID:20486865

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

tropomyosin 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984

autoimmune interstitial lung, joint, and kidney disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atypical chemokine receptor 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983

G

ADAM metallopeptidase with thrombospondin type 1 motif, 4

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065

G

absent in melanoma 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975

G

amyloid P component, serum

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298

G

apolipoprotein A2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355

G

Rho GTPase activating protein 30

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885

G

activating transcription factor 6

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177

G

ATPase Na+/K+ transporting subunit alpha 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544

G

ATPase Na+/K+ transporting subunit alpha 4

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687

G

beta-1,4-galactosyltransferase 3

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,691,378...83,697,448
Ensembl chr13:83,691,446...83,697,448

G

similar to human chromosome 1 open reading frame 226

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,530,589...82,538,676
Ensembl chr13:82,530,577...82,820,949

G

cell adhesion molecule 3

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,784,785...85,817,412
Ensembl chr13:85,786,483...85,817,749

G

calsequestrin 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339

G

CD244 molecule

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,051,339...84,082,864
Ensembl chr13:84,052,493...84,074,492

G

Cd48 molecule

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,184,884...84,209,144
Ensembl chr13:84,185,532...84,209,142

G

CD84 molecule

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,327,580...84,367,153
Ensembl chr13:84,327,553...84,362,076

G

cilia and flagella associated protein 126

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552

G

cilia and flagella associated protein 45

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878

G

COPI coat complex subunit alpha

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 chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874

G

C-reactive protein

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

DDB1 and CUL4 associated factor 8

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726

G

discoidin domain receptor tyrosine kinase 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

death effector domain-containing

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,755,874...83,769,982
Ensembl chr13:83,756,108...83,769,332

G

dual specificity phosphatase 12

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285

G

dual specificity phosphatase 23

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,097,899...85,100,054
Ensembl chr13:85,097,899...85,100,093

G

F11 receptor

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402

G

Fc epsilon receptor Ia

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351

G

Fc epsilon receptor Ig

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,649,447...83,654,248
Ensembl chr13:83,649,449...83,671,443

G

Fc gamma receptor 2A

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778

G

Fc gamma receptor 3A

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

Fc receptor-like 6

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,062,709...85,072,308
Ensembl chr13:85,066,694...85,072,600

G

Fc receptor-like A

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762

G

Fc receptor-like B

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957

G

heat shock protein family A (Hsp70) member 6 like, pseudogene 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,273,176...83,274,317

G

immunoglobulin superfamily, member 8

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576

G

immunoglobulin superfamily, member 9

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,948,643...84,965,616
Ensembl chr13:84,948,619...84,965,607

G

intelectin 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227

G

potassium inwardly-rectifying channel, subfamily J, member 10

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461

G

potassium inwardly-rectifying channel, subfamily J, member 9

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928

G

kelch domain containing 9

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,790,390...83,794,080
Ensembl chr13:83,790,269...83,793,354

G

lymphocyte antigen 9

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,079,345...84,100,783
Ensembl chr13:84,079,458...84,100,823

G

myeloid cell nuclear differentiation antigen

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:86,017,888...86,035,556
Ensembl chr13:86,017,892...86,034,201

G

myelin protein zero

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679

G

nicastrin

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454

G

NADH:ubiquinone oxidoreductase core subunit S2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420

G

nectin cell adhesion molecule 4

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709

G

nescient helix loop helix 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,517,347...84,522,548
Ensembl chr13:84,517,289...84,525,094

G

nitrilase 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,769,888...83,773,324
Ensembl chr13:83,765,941...83,773,332

G

NLR family, pyrin domain containing 12

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

PMID:25741868 PMID:28492532

NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934

G

nitric oxide synthase 1 adaptor protein

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949

G

nuclear receptor subfamily 1, group I, member 3

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906

G

olfactomedin-like 2B

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,869,414...82,906,607
Ensembl chr13:82,869,433...82,906,607

G

olfactory receptor family 10 subfamily J member 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,723,300...85,724,290
Ensembl chr13:85,719,234...85,724,767

G

olfactory receptor family 10 subfamily J member 3

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,667,254...85,668,195
Ensembl chr13:85,662,666...85,669,540

G

olfactory receptor family 10 subfamily J member 5

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,430,655...85,431,584
Ensembl chr13:85,424,254...85,432,107

G

olfactory receptor family 6 subfamily K member 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:86,186,442...86,190,391
Ensembl chr13:86,185,529...86,190,815

G

olfactory receptor family 6 subfamily K member 14B

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:86,164,244...86,165,191
Ensembl chr13:86,160,158...86,166,214

G

olfactory receptor family 6 subfamily K member 6

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:86,148,402...86,149,325
Ensembl chr13:86,147,303...86,152,153

G

olfactory receptor family 6 subfamily N member 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:86,106,912...86,107,850
Ensembl chr13:86,102,080...86,108,363

G

olfactory receptor family 6 subfamily N member 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:86,076,857...86,087,100

G

Purkinje cell protein 4-like 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,588,992...83,612,631
Ensembl chr13:83,588,992...83,609,966

G

proliferation and apoptosis adaptor protein 15

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499

G

peroxisomal biogenesis factor 19

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608

G

prefoldin subunit 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,772,301...83,791,367
Ensembl chr13:83,753,877...83,790,504

G

phosphatidylinositol glycan anchor biosynthesis, class M

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381

G

protoporphyrinogen oxidase

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253

G

SH2 domain containing 1B

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,485,076...82,519,401

G

signaling lymphocytic activation molecule family member 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,270,316...84,305,497
Ensembl chr13:84,270,316...84,305,497

G

SLAM family member 6

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,384,561...84,405,300
Ensembl chr13:84,383,742...84,405,300

G

SLAM family member 7

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,135,656...84,154,528
Ensembl chr13:84,136,899...84,154,105

G

SLAM family member 8

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,047,729...85,057,571
Ensembl chr13:85,047,727...85,057,211

G

SLAM family member 9

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,941,896...84,944,749
Ensembl chr13:84,941,982...84,944,748

G

spermatogenesis associated 46

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,541,183...82,544,808
Ensembl chr13:82,541,183...82,544,808

G

spectrin, alpha, erythrocytic 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371

G

transgelin 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972

G

translocase of outer mitochondrial membrane 40 like

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,636,692...83,641,654
Ensembl chr13:83,638,195...83,641,654

G

thiosulfate sulfurtransferase like domain containing 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,853,421...83,854,875
Ensembl chr13:83,822,035...83,854,885

G

UDP-N-acetylglucosamine pyrophosphorylase 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469

G

ubiquitin-fold modifier conjugating enzyme 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,709,329...83,719,762
Ensembl chr13:83,709,330...83,716,076

G

U2AF homology motif kinase 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:82,396,646...82,416,292
Ensembl chr13:82,401,187...82,416,292

G

upstream transcription factor 1

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885

G

ubiquitin specific peptidase 21

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:83,702,672...83,709,215
Ensembl chr13:83,702,631...83,708,717

G

VANGL planar cell polarity protein 2

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378

G

V-set and immunoglobulin domain containing 8

ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome

NCBI chr13:85,023,177...85,031,364
Ensembl chr13:85,023,177...85,031,364

berylliosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

CTD Direct Evidence: marker/mechanism

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

butyrophilin-like 2

susceptibility

DNA:SNP: :rs3117099(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17927685 PMID:17927685

NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341

G

C-C motif chemokine receptor 5

disease_progression

DNA:polymorphisms:5' utr:multiple (human)

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

Cd28 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

glutamate cysteine ligase, modifier subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535

G

heme oxygenase 1

protein:increased activity:sputum

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

RT1 class II, locus Db1

CTD Direct Evidence: marker/mechanism

PMID:16272364 PMID:17927685

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

CTD Direct Evidence: marker/mechanism

PMID:8105536 PMID:11551429 PMID:14662898 PMID:15273960 PMID:17927685 More...

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

transforming growth factor, beta 1

severity

DNA:polymorphisms: :-509C>T (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15750822 PMID:17785866 PMID:17785866

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

bird fancier's lung

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mucin 1, cell surface associated

protein:increased expression:serum

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

bronchiolitis obliterans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

adenosine A2a receptor

RGD

NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386

G

C-C motif chemokine ligand 17

RGD

NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819

G

C-C motif chemokine ligand 2

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 22

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine ligand 5

mRNA:increased expression:lung (rat)

RGD

PMID:19840961 PMID:14611812

RGD:4889978, RGD:2307195

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine ligand 7

protein:increased expression:bronchoalveolar Lavage fluid

RGD

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

C-C motif chemokine receptor 2

mRNA:increased expression:trachea:

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

CD86 molecule

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

colony stimulating factor 2

associated with Respiratory Aspiration;protein:increased expression:serum

RGD

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

C-X-C motif chemokine ligand 10

protein:increased expression:respiratory system fluid/secretion

RGD

PMID:16709871 PMID:12097412 PMID:12097412

RGD:5135441, RGD:5135451, RGD:5135451

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 11

protein:increased expression:respiratory system fluid/secretion

RGD

PMID:12097412 PMID:12097412

RGD:5135451, RGD:5135451

NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271

G

C-X-C motif chemokine ligand 9

protein:increased expression:respiratory system fluid/secretion

RGD

PMID:16709871 PMID:12097412 PMID:12097412

RGD:5135441, RGD:5135451, RGD:5135451

NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435

G

C-X-C motif chemokine receptor 3

RGD

PMID:16709871 PMID:12097412

RGD:5135441, RGD:5135451

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

endothelin 1

human gene in a rat model

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

forkhead box P3

mRNA:increased expression:lung

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

granzyme B

RGD

NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814

G

heme oxygenase 1

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

interferon gamma

CTD Direct Evidence: therapeutic

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 13

protein:increased expression:bronchoalveolar lavage fluid

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 13 receptor subunit alpha 1

RGD

NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681

G

interleukin 13 receptor subunit alpha 2

RGD

NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381

G

interleukin 17A

mRNA:increased expression:trachea

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 receptor antagonist

protein:increased expression:lung

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 4

protein:increased expression:serum

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

mannose binding lectin 2

resistance

DNA:transversion:5' utr:-290C>G rs7096206 (human)

RGD

NCBI chr 1:228,016,439...228,024,736

G

matrix metallopeptidase 9

protein:increased expression, increased activity:bronchoalveolar lavage fluid

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mucin 1, cell surface associated

protein:increased expression:serum

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

nucleotide-binding oligomerization domain containing 2

RGD

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 2

associated with lung transplantation; protein:increased expression:lung

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

protein:increased expression:lung

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

secretoglobin family 1A member 1

associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage

RGD

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

G

surfactant protein D

RGD

NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927

G

toll-like receptor 9

DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

cryptogenic organizing pneumonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 1A

protein:increased expression:lung, macrophage (human)

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

protein:increased expression:lung, lymphocyte (human)

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

desquamative interstitial pneumonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

surfactant protein C

OMIM:263000

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

diffuse pulmonary fibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis

PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More...

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

extrinsic allergic alveolitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

protein:increased expression:plasma

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

C-C motif chemokine ligand 5

protein:increased secretion:lung, secretion (mouse)
mRNA:increased expression:lung:bronchoalveolar lavage cell (human)

RGD

PMID:16387809 PMID:10384061

RGD:4891434, RGD:4891436

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine ligand 7

RGD

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

C-C motif chemokine receptor 3

RGD

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

CD86 molecule

associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse)

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

C-X-C motif chemokine ligand 10

mRNA:increased expression:alveolar macrophage

RGD

PMID:14991597 PMID:15725351

RGD:5135448, RGD:5135490

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 11

RGD

NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271

G

C-X-C motif chemokine ligand 9

mRNA:increased expression:alveolar macrophage

RGD

PMID:14991597 PMID:15725351

RGD:5135448, RGD:5135490

NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435

G

C-X-C motif chemokine receptor 3

RGD

PMID:14991597 PMID:19842835

RGD:5135448, RGD:4145620

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

cytochrome P450, family 2, subfamily e, polypeptide 1

mRNA:decreased expression:leukocyte

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

interleukin 13

mRNA:increased expression:lung

RGD

PMID:9916735 PMID:20861649

RGD:4145650, RGD:5128548

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

associated with Silicosis

RGD

PMID:20421647 PMID:19151189

RGD:4888525, RGD:4889106

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 17 receptor A

RGD

NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174

G

interleukin 1 alpha

protein:increased expression:Bronchoalveolar Lavage Fluid

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

disease_progression

protein:increased expression:serum (human)

RGD

PMID:19556641 PMID:1519663

RGD:4142842, RGD:7401229

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 5

protein:increased expression:lung,respiratory system fluid/secretion

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

nitric oxide synthase 2

protein:increased expression:lung

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

surfactant protein A1

protein:decreased expression:lung

RGD

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:polymorphisms:cds:P. D637G, P661P (human)

RGD

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

toll-like receptor 6

RGD

NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685

G

tenascin C

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624

G

tumor necrosis factor

protein:increased expression:Bronchoalveolar Lavage Fluid

RGD

PMID:10882225 PMID:15653992

RGD:4142832, RGD:4143466

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

protein:increased expression:alveolar macrophage (human)

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

protein:increased expression:alveolar macrophage (human)

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

vascular endothelial growth factor A

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

farmer's lung

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 12B

RGD

NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

tumor necrosis factor

protein:increased secretion:macrophage
DNA:polymorphism:promoter

RGD

PMID:8466130 PMID:11179110

RGD:4143375, RGD:4143374

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

granulomatosis with polyangiitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 3

protein:increased expression:nasal cavity epithelium
protein:increased expression:blood, T cell

RGD

PMID:11529927 PMID:12716450

RGD:4145634, RGD:6893409

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 5

DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD36 molecule

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cytotoxic T-lymphocyte-associated protein 4

DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human)

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

Fc alpha receptor

RGD

NCBI chr 1:69,626,458...69,660,558

G

insulin-like growth factor 1

protein:increased expression:nasal cavity mucosa, blood vessel:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

proteinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944

G

thrombomodulin

protein:increased expression:serum

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

vitronectin

RGD

NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810

idiopathic interstitial pneumonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine ligand 6

associated with Scleroderma, Diffuse
protein:increased expression:serum

RGD

PMID:18432520 PMID:16085216

RGD:5135258, RGD:5135260

NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093

G

intercellular adhesion molecule 1

protein:increased expression:lung, alveolar macrophage (human)

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 6

protein:increased expression:bronchoalveolar lavage (rat)

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

Kelch-like ECH-associated protein 1

protein:increased expression:hyperplastic lung epithelium, alveolus (human)

RGD

NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862

G

mechanistic target of rapamycin kinase

RGD

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

secretoglobin family 1A member 1

protein:increased expression:serum

RGD

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

idiopathic pulmonary fibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:15976379 PMID:17597647 PMID:18024538 PMID:18246475 PMID:18317237 More...

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

aryl-hydrocarbon receptor repressor

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673

G

AKT serine/threonine kinase 1

mRNA:increased expression:blood plasma (human)

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

apolipoprotein A1

protein: decreased expression: respiratory system fluid/secretion

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

ATPase phospholipid transporting 11A

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640

G

bone morphogenetic protein 1

ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776

G

bromodomain containing 4

RGD

NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539

G

bromodomain containing 9

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016

G

C-C motif chemokine ligand 12

CTD Direct Evidence: therapeutic

NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780

G

centrosomal protein 72

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271

G

CASP8 and FADD-like apoptosis regulator

mRNA,protein:increased expression:lung myofibroblast:

RGD

NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298

G

C-X-C motif chemokine ligand 6

DNA:polymorphism:promoter:-156G>C (human)
protein:increased expression:lung, macrophage, type II pneumocyte

RGD

PMID:20137269 PMID:11751193

RGD:5135241, RGD:5135250

NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093

G

discoidin domain receptor tyrosine kinase 1

treatment

mRNA:increased expression:lung (human)

RGD

PMID:30119248 PMID:30119248

RGD:151347411, RGD:151347411

NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468

G

dipeptidyl peptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541

G

desmoplakin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

dystrobrevin binding protein 1

ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661

G

euchromatic histone lysine methyltransferase 2

RGD

NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547

G

E1A binding protein p300

treatment

mRNA:increased expression:lung (human)

RGD

PMID:30119248 PMID:30119248

RGD:151347411, RGD:151347411

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

exocyst complex component 3

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045

G

coagulation factor III, tissue factor

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

family with sequence similarity 13, member A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860

G

Fas cell surface death receptor

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

fibroblast growth factor receptor 2

protein:increased expression:lung (human)

RGD

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

G protein-coupled estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: therapeutic

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632

G

interleukin 1 receptor-like 1

protein:increased expression:serum

RGD

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:16199547 PMID:19494218 PMID:21792839 PMID:22940634 PMID:26100510 More...

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2 receptor subunit alpha

RGD

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

laminin subunit alpha 3

ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353

G

microRNA 184

RNA:decreased expression:blood plasma (human)

RGD

NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210

G

microRNA 31

RNA:increased expression:blood plasma (human)

RGD

NCBI chr 5:103,599,038...103,599,143

G

matrix metallopeptidase 1

protein:increased expression:lung,bronchoalveolar lavage fluid:
ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 19

ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555

G

matrix metallopeptidase 3

mRNA, protein:increased expression:lung
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:28434932 PMID:21871427

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

mucin 1, cell surface associated

protein:increased expression:serum:

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

mucin 5B, oligomeric mucus/gel-forming

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2

CTD
OMIM
ClinVar

PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 More...

NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250

G

NKD inhibitor of WNT signaling pathway 2

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821

G

NK2 homeobox 1

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:25741868 PMID:28492532

NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791

G

neurotrophic receptor tyrosine kinase 2

mRNA:increased expression:lung

RGD

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

poly(A)-specific ribonuclease

CTD Direct Evidence: marker/mechanism

NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560

G

poly (ADP-ribose) polymerase 1

mRNA,protein:increased expression, increased activity:fibroblast

RGD

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

programmed cell death 6

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189

G

plasminogen activator, urokinase

CTD Direct Evidence: therapeutic

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

prostaglandin-endoperoxide synthase 2

DNA:SNPs: :3050G>C, 8473C>T (human)
protein:decreased expression:lung:

RGD

PMID:21319594 PMID:14511257 PMID:20203246

RGD:5135280, RGD:5135507, RGD:5135461

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

regulator of telomere elongation helicase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 More...

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

rhotekin 2

ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr20:20,536,628...20,609,951
Ensembl chr20:20,525,256...20,609,951

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

G

SET domain containing 2, histone lysine methyltransferase

exacerbates

associated with lung squamous cell carcinoma; DNA:mutations:multiple (human)

RGD

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

surfactant protein A1

ClinVar Annotator: match by term: Interstitial lung disease 2 | ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to

PMID:13680361 PMID:24033266 PMID:25741868

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

surfactant protein C

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 More...

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

G

solute carrier family 12 member 7

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302

G

solute carrier family 6 member 18

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925

G

solute carrier family 6 member 19

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962

G

solute carrier family 9 member A3

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417

G

SMAD family member 2

mRNA:increased expression:blood plasma (human)

RGD

NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323

G

SMAD family member 6

mRNA:decreased expression:blood plasma (human)

RGD

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

G

ST14 transmembrane serine protease matriptase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30481203 PMID:22684844

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

STN1 subunit of CST complex

CTD Direct Evidence: marker/mechanism

NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531

G

telomerase RNA component

ClinVar Annotator: match by term: Interstitial lung disease 2
CTD Direct Evidence: marker/mechanism

PMID:17392301 PMID:17460043 PMID:23535734

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

DNA:deletion, missense mutations, splice-site mutations:multiple
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Interstitial lung disease 2
ClinVar Annotator: match by term: Familial 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: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:2602487 PMID:9536098 PMID:12629597 PMID:15814878 PMID:15885610 More...

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tissue factor pathway inhibitor

severity

protein:increased expression:Bronchoalveolar lavage,epithelial cell:

RGD

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

thrombomodulin

severity

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

toll interacting protein

ClinVar Annotator: match by term: Interstitial lung disease 2

NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625

G

tubulin polymerization promoting protein

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134

G

thyroid hormone receptor interactor 13

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074

G

Wnt family member 5A

CTD Direct Evidence: marker/mechanism

NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234

G

zinc finger, DHHC-type containing 11

ClinVar Annotator: match by term: Interstitial lung disease 2

PMID:12629597 PMID:28492532

NCBI chr 1:29,296,334...29,327,227
Ensembl chr 1:29,296,334...29,326,898

INTERSTITIAL LUNG AND LIVER DISEASE

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GTPase activating protein 9

ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND

PMID:9536098 PMID:17576681 PMID:24482476 PMID:28492532 PMID:35303589

NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524

G

dynactin subunit 2

ClinVar Annotator: match by term: Interstitial lung and liver disease

NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543

G

DNA-damage inducible transcript 3

ClinVar Annotator: match by term: Interstitial lung and liver disease

NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201

G

phenylalanyl-tRNA synthetase subunit beta

ClinVar Annotator: match by term: Interstitial lung and liver disease

NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045

G

kinesin family member 5A

ClinVar Annotator: match by term: Interstitial lung and liver disease

NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858

G

methionyl-tRNA synthetase 1

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

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More...

NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495

G

methyl-CpG binding domain protein 6

ClinVar Annotator: match by term: Interstitial lung and liver disease

NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274

Interstitial Lung Disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

surfactant protein A1

ClinVar Annotator: match by term: Interstitial lung disease 1

PMID:24033266 PMID:25741868 PMID:26792177 PMID:30854216 PMID:31601679 More...

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

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

integrin subunit alpha 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

OMIM
CTD
ClinVar

PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 More...

NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118

Langerhans-cell histiocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

OMIM:246400 | OMIM:604856

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

pneumoconiosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aggrecan

CTD Direct Evidence: marker/mechanism

NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627

G

ALG11, alpha-1,2-mannosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601

G

Rho GTPase activating protein 22

CTD Direct Evidence: marker/mechanism

NCBI chr16:8,473,806...8,631,552
Ensembl chr16:8,476,306...8,631,548

G

N-acylsphingosine amidohydrolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233

G

ATR serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136

G

carbonic anhydrase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208

G

carbonic anhydrase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,770,418...86,780,011
Ensembl chr 2:86,770,420...86,784,280

G

catalase

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

coiled-coil domain containing 180

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,154,883...60,223,508
Ensembl chr 5:60,154,910...60,223,522

G

cadherin-related 23

CTD Direct Evidence: marker/mechanism

NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419

G

enolase-phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:9,531,336...9,557,797
Ensembl chr14:9,531,339...9,569,273

G

EPH receptor B4

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314

G

FCH and mu domain containing endocytic adaptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,413,452...18,430,795
Ensembl chr16:18,413,363...18,435,104

G

H3.4 histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chr10:43,740,702...43,741,262

G

heparan sulfate-glucosamine 3-sulfotransferase 6

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133

G

interleukin 27 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

leucine rich repeat containing 29

CTD Direct Evidence: marker/mechanism

NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545

G

MDM4 regulator of p53

CTD Direct Evidence: marker/mechanism

NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226

G

nucleoporin 35

CTD Direct Evidence: marker/mechanism

NCBI chr 3:65,555,203...65,594,488
Ensembl chr 3:65,558,968...65,585,130

G

peroxiredoxin like 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:165,462,610...165,465,213

G

proteasome 20S subunit beta 9

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512

G

protein tyrosine phosphatase, receptor type Z1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

SPNS lysolipid transporter 1, lysophospholipid

CTD Direct Evidence: marker/mechanism

NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370

G

transporter 1, ATP binding cassette subfamily B member

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

G

TIR domain containing adaptor molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,102,559...1,111,023
Ensembl chr 9:1,102,366...1,123,147

G

transmembrane serine protease 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363

pulmonary fibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

angiotensin I converting enzyme

associated with Hypertension
CTD Direct Evidence: therapeutic
associated with Radiation Pneumonitis
associated with Lung Injury
associated with Lung Injury;protein:decreased expression:lung

CTD
RGD

PMID:33007385 PMID:17506718 PMID:17506716 PMID:20651228 PMID:20581171

RGD:4140923, RGD:4140925, RGD:4140478, RGD:4140483

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensin converting enzyme 2

associated with Lung Injury;protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:27550926 PMID:33007385 PMID:20581171

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: therapeutic

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

advanced glycosylation end product-specific receptor

mRNA:decreased expression:lung (human)
mRNA, protein:decreased expression:lung

RGD

PMID:22669512 PMID:24226635

RGD:7245533, RGD:8695997

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

treatment

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:28960804 PMID:31181250 PMID:24168260

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

arachidonate 5-lipoxygenase

protein:altered localization:alveolar macrophage, nuclear membrane

RGD

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

annexin A1

protein:decreased expression:lung

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

adaptor related protein complex 3 subunit beta 1

RGD

NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935

G

apolipoprotein A1

protein:decreased expression: respiratory system fluid/secretion

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

amphiregulin

CTD Direct Evidence: marker/mechanism

NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535

G

beta-1,3-glucuronyltransferase 1

protein:increased expression:lung

RGD

NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395

G

BCL2-associated agonist of cell death

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

bradykinin receptor B1

RGD

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

brain-derived neurotrophic factor

protein:increased expression:sputum

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

bone morphogenetic protein 7

CTD Direct Evidence: therapeutic

NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788

G

bromodomain containing 4

treatment

RGD

NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539

G

calcitonin-related polypeptide alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

calreticulin

protein:increased expression:lung

RGD

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

catalase

mRNA, protein:decreased expression:lung
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:19684199 PMID:21190578

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

caveolin 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:36053221 PMID:18759267

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 11

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16314464 PMID:17620002 PMID:17620002 PMID:16314464

RGD:4145458, RGD:4145395

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

C-C motif chemokine ligand 17

mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion

RGD

PMID:15993846 PMID:19715610

RGD:2306304, RGD:4145488

NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819

G

C-C motif chemokine ligand 19

mRNA:increased expression:lung

RGD

NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung, eosinophil (rat)

CTD
RGD

PMID:16324872 PMID:17720292 PMID:26163174 PMID:20833968 PMID:7525714

RGD:4145112, RGD:8549730

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 21

mRNA:increased expression:lung

RGD

NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686

G

C-C motif chemokine ligand 22

mRNA:increased expression:lung
protein:increased expression:respiratory system fluid/secretion

RGD

PMID:15993846 PMID:19715610

RGD:2306304, RGD:4145488

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine ligand 3

CTD Direct Evidence: marker/mechanism

PMID:16324872 PMID:17720292

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine ligand 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine ligand 5

protein:increased expression:lung (mouse)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17620002 PMID:20833968

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

cellular communication network factor 2

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15298857 PMID:15677772 PMID:25815693 PMID:26817844 PMID:19154443

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

C-C motif chemokine receptor 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14609568 PMID:15743780

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 3

associated with Lung Injury
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16314464 PMID:16314464

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 4

mRNA:increased expression:lung

RGD

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

C-C motif chemokine receptor 5

protein:decreased expression:lung, lymphocyte (human)
mRNA:increased expression:lung (mouse)

RGD

PMID:15802346 PMID:19762220

RGD:4892101, RGD:4145622

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

C-C motif chemokine receptor 8

mRNA:increased expression:lung

RGD

NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629

G

Cd28 molecule

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

CD36 molecule

severity

associated with Silicosis

RGD

PMID:19439069 PMID:20056742

RGD:2307220, RGD:6893557

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD86 molecule

protein:increased expression:lung, dendritic cell (mouse)

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cadherin 1

RGD

PMID:20495078 PMID:16924102

RGD:5132892, RGD:5132890

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

CCAAT/enhancer binding protein alpha

CTD Direct Evidence: therapeutic

NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412

G

CCAAT/enhancer binding protein beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473

G

complement factor D

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053

G

CASP8 and FADD-like apoptosis regulator

mRNA,protein:increased expression:lung myofibroblast:

RGD

NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034

G

chitinase 3 like 1

severity

protein:increased secretion:serum, lung (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

cholinergic receptor, muscarinic 3

RGD

NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278

G

chymase 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233

G

collagen type I alpha 1 chain

treatment

associated with Middle East respiratory syndrome;

RGD

PMID:7511187 PMID:31838832 PMID:17579094

RGD:7257543, RGD:30309204, RGD:11041177

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

RGD

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

collagen type III alpha 1 chain

disease_progression

CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;

CTD
RGD

PMID:26817844 PMID:31838832

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

colony stimulating factor 2

mRNA:increased expression:lung:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17894541 PMID:9881949

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

C-X-C motif chemokine receptor 2

RGD

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

C-X-C motif chemokine receptor 3

associated with Lung Injury

RGD

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

cysteinyl leukotriene receptor 1

associated with Pneumonia
mRNA:increased expression:lung

RGD

PMID:14970333 PMID:20959046

RGD:4847792, RGD:4781441

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

cysteinyl leukotriene receptor 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15328359 PMID:20497024 PMID:15328359

RGD:4781445, RGD:5143997

NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136

G

defensin beta 1

protein:increased expression:serum

RGD

NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604

G

defensin beta 4

protein:increased expression:serum

RGD

NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665

G

defensin beta 5

protein:increased expression:serum

NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Pulmonary fibrosis

G

dynamin 1-like

mRNA,protein:increased expression:lung,mitochondrion

RGD

PMID:25284615 PMID:25284615

RGD:35673291, RGD:35673291

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

G

desmoplakin

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

endothelin 1

protein:increased expression:lung, airway epithelium, leukocyte (rat)
CTD Direct Evidence: marker/mechanism
Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human)
associated with Scleroderma, Systemic; protein:increased expression:lung (human)

CTD
RGD

PMID:17235729 PMID:9279246 PMID:8099638 PMID:9284832

RGD:4144892, RGD:4144889, RGD:4144866

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

epidermal growth factor receptor

mRNA:increased expression:lung (rat)

RGD

PMID:7524566 PMID:21177177 PMID:8879184

RGD:5131873, RGD:5131634, RGD:5131638

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

early growth response 1

disease_progression

mRNA:increased expression:lung (human)
mRNA:increased expression:lung (mouse)

RGD

PMID:19347046 PMID:19679873 PMID:20539010

RGD:4144870, RGD:5131644, RGD:5131877

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

elastase, neutrophil expressed

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

elastin

CTD Direct Evidence: marker/mechanism

PMID:10761639 PMID:26817844

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

coagulation factor II, thrombin

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor V

severity

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

family with sequence similarity 13, member A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860

G

fibroblast growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

FYN proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911

G

GTP cyclohydrolase 1

treatment

RGD

NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698

G

gremlin 1, DAN family BMP antagonist

CTD Direct Evidence: marker/mechanism

NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082

G

glutathione S-transferase pi 1

associated with Scleroderma, Systemic

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

hyaluronan binding protein 2

RGD

NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160

G

hepatocyte growth factor

associated with myositis;protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16324872 PMID:8952317

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

heat shock protein 90 alpha family class B member 1

protein:decreased expression:lung (rat)

RGD

NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488

G

heat shock protein family A (Hsp70) member 1A

CTD Direct Evidence: therapeutic

NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227

G

heat shock protein family A (Hsp70) member 1B

CTD Direct Evidence: therapeutic

NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240

G

heat shock protein family A (Hsp70) member 5

mRNA,protein:increased expression:lungs

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

heat shock protein family D (Hsp60) member 1

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

intercellular adhesion molecule 1

protein:increased expression:lung (rat)

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

insulin-like growth factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

insulin-like growth factor binding protein 5

RGD

NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156

G

interleukin 12B

protein:increased expression:lung
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12193738 PMID:18598692 PMID:20176803

RGD:4889581, RGD:4888529

NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

interleukin 13

treatment

idiopathic pulmonary fibrosis
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15322207 PMID:19654941 PMID:20176803 PMID:19154443

RGD:4145627, RGD:4888529, RGD:2314537

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 15

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

interleukin 17A

protein:increased expression:lung, bronchioalveolar lavage fluid (rat)

RGD

PMID:20176803 PMID:24721403 PMID:18338242

RGD:4888529, RGD:9179762, RGD:4889110

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

protein:increased expression:lung
idiopathic pulmonary fibrosis; protein:increased expression:lung, serum

RGD

PMID:18598692 PMID:15308504

RGD:4889581, RGD:4889841

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 18 receptor 1

protein:increased expression:lung

RGD

NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715

G

interleukin 1 alpha

idiopathic pulmonary fibrosis;DNA:polymorphism:promoter:
mRNA, protein:increased expression:alveolar macrophage

RGD

PMID:17309781 PMID:9100454

RGD:4142803, RGD:4142838

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:lung

CTD
RGD

PMID:17266442 PMID:23640035 PMID:19945540 PMID:23132788 PMID:20522787

RGD:4142813, RGD:7193137, RGD:4142535

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

disease_progression
susceptibility

DNA:polymorphism (human)
CTD Direct Evidence: therapeutic
protein:increased expression:lung

CTD
RGD

PMID:18403674 PMID:17056243 PMID:7767546 PMID:10934117

RGD:4142874, RGD:4143194, RGD:4143177

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 4

treatment

associated with Silicosis;protein:increased expression:respiratory system fluid/secretion
CTD Direct Evidence: marker/mechanism
associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung

CTD
RGD

PMID:12574379 PMID:15322207 PMID:20490462 PMID:24269241 PMID:20861649

RGD:5128555, RGD:10402793, RGD:5128548

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 5

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung

CTD
RGD

PMID:17620002 PMID:14975941 PMID:17986108

RGD:4890954, RGD:4890942

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

interleukin 6

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17266442 PMID:25216247 PMID:20846163

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 9

associated with Silicosis

RGD

NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895

G

jagged canonical Notch ligand 1

protein:increased expression:lung

RGD

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

kinesin family member 15

ClinVar Annotator: match by term: Pulmonary fibrosis

NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750

G

laminin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585

G

leptin receptor

associated with Diabetes Mellitus, Type 2

RGD

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

lipoic acid synthetase

CTD Direct Evidence: therapeutic

NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783

G

mannose binding lectin 2

associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human)

RGD

NCBI chr 1:228,016,439...228,024,736

G

methyl CpG binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689

G

mitofusin 2

treatment

RGD

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

G

microRNA 101a

CTD Direct Evidence: therapeutic

NCBI chr 5:115,966,332...115,966,406
Ensembl chr 5:115,966,328...115,966,410

G

microRNA 10a

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280

G

microRNA 122

CTD Direct Evidence: marker/mechanism

NCBI chr18:58,758,703...58,758,787

G

microRNA 125a

CTD Direct Evidence: therapeutic

NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710

G

microRNA 140

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:25926378 PMID:32462952

NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675

G

microRNA 145

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

microRNA 193a

CTD Direct Evidence: therapeutic

NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454

G

microRNA 200c

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:25926378 PMID:29113749

NCBI chr 4:157,523,679...157,523,747

G

microRNA 21

treatment

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 223

disease_progression

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

microRNA 26b

CTD Direct Evidence: marker/mechanism

NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680

G

microRNA 30a

CTD Direct Evidence: marker/mechanism
RNA:decreased expression:lung

CTD
RGD

PMID:25926378 PMID:25284615

NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670

G

microRNA 326

CTD Direct Evidence: marker/mechanism

NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123

G

microRNA 345

CTD Direct Evidence: marker/mechanism

NCBI chr 6:127,754,027...127,754,122
Ensembl chr 6:127,754,027...127,754,122

G

microRNA 425

CTD Direct Evidence: marker/mechanism

NCBI chr 8:109,264,555...109,264,637
Ensembl chr 8:109,264,555...109,264,637

G

microRNA 451a

CTD Direct Evidence: therapeutic

NCBI chr10:62,961,520...62,961,591
Ensembl chr10:62,961,520...62,961,591

G

microRNA 490

CTD Direct Evidence: therapeutic

NCBI chr 4:65,047,548...65,047,631
Ensembl chr 4:65,047,548...65,047,631

G

matrix metallopeptidase 1

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 3

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

treatment

protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21468558 PMID:17121240 PMID:23318412

RGD:1642054, RGD:13204970

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

metallothionein 2A

CTD Direct Evidence: therapeutic

NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784

G

mechanistic target of rapamycin kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

mucin 5AC, oligomeric mucus/gel-forming

mRNA, protein:increased expression:lung
mRNA:increased expression:lung

RGD

PMID:14680076 PMID:19154443

RGD:5131207, RGD:2314537

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

nuclear assembly factor 1 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:25741868 PMID:28492532

NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23570914 PMID:19138753

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nerve growth factor

protein:increased expression:sputum

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nerve growth factor receptor

RGD

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

NK2 homeobox 5

mRNA:decreased expression:lung, fibroblast

RGD

NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

G

nitric oxide synthase 2

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

notch receptor 1

protein:increased expression:lung

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

neurotrophic receptor tyrosine kinase 2

mRNA, protein:increased expression:lung

RGD

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

8-oxoguanine DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

poly(A)-specific ribonuclease

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:9736620 PMID:16199547 PMID:25741868 PMID:25848748 PMID:26482878 More...

NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27704718 PMID:23260200

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15286697 PMID:21868503 PMID:22523431

RGD:6482756, RGD:6482831

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

platelet derived growth factor receptor alpha

RGD

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

plasminogen activator, urokinase

treatment

human protein in rat model

RGD

PMID:7516275 PMID:23327706 PMID:12376355

RGD:7241204, RGD:7241544, RGD:7241206

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

presenilin 2

RGD

NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174

G

prostaglandin-endoperoxide synthase 2

associated with sarcoidosis; DNA:SNP: :-765G>C (human)

RGD

PMID:17825173 PMID:21681100

RGD:1642597, RGD:5135504

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

pentraxin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:16199547 PMID:23329068 PMID:23453664 PMID:23959892 PMID:24033266 More...

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

secretoglobin family 1A member 1

associated with scleroderma, systemic; protein:increased expression:serum:
mRNA,protein:decreased expression:lung

RGD

PMID:21239758 PMID:16369113

RGD:5144130, RGD:5144139

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

G

secretoglobin, family 3A, member 2

RGD

NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

serpin family E member 1

treatment

Idiopathic Pulmonary Fibrosis
protein:increased activity:plasma

RGD

PMID:20061390 PMID:22659625 PMID:16224526

RGD:4143513, RGD:8547927, RGD:4144842

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

surfactant protein A1

disease_progression
susceptibility

mRNA:increased expression:lung
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
protein:decreased expression:lung

RGD

PMID:19347046 PMID:13680361 PMID:10543276

RGD:4144870, RGD:4143409, RGD:4143437

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

surfactant protein B

susceptibility

DNA:polymorphism (human)

RGD

NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436

G

surfactant protein C

susceptibility

DNA:polymorphisms: :p.M71V, p.I73T (human)
ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:15039969 PMID:15293602 PMID:15572558 PMID:15756222 PMID:17597647 More...

RGD:4144060, RGD:4144124

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

G

SKI-like proto-oncogene

CTD Direct Evidence: therapeutic

NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080

G

SMAD family member 4

treatment

associated with Silicosis

RGD

PMID:21941776 PMID:22558986

RGD:12880047, RGD:12880048

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

SMAD family member 7

CTD Direct Evidence: therapeutic

NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 3

CTD Direct Evidence: therapeutic

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

G

secreted protein acidic and cysteine rich

associated with Middle East respiratory syndrome;mRNA:increased expression:lung:

RGD

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism
associated with Middle East respiratory syndrome;mRNA:increased expression:lung:

CTD
RGD

PMID:25216247 PMID:31838832

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

signal transducer and activator of transcription 1

RGD

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30658076 PMID:22684844

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 6

CTD Direct Evidence: therapeutic

NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495

G

TGF-beta activated kinase 1/MAP3K7 binding protein 2

treatment

RGD

NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756

G

telomerase RNA component

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:10721988 PMID:14630445 PMID:15082312 PMID:15886322 PMID:17460043 More...

NCBI chr 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:17264120 More...

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tissue factor pathway inhibitor

treatment

RGD

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894

G

transforming growth factor, beta 1

treatment

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 chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transforming growth factor, beta receptor 2

RGD

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

TIMP metallopeptidase inhibitor 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21468558 PMID:23318412

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Pulmonary fibrosis

PMID:18252230 PMID:21536674 PMID:28492532

NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984

G

toll-like receptor 2

associated with Pneumonia

RGD

PMID:19109203 PMID:20610040

RGD:4145324, RGD:4144177

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

associated with acute lung injury

RGD

PMID:20610040 PMID:20017955

RGD:4144177, RGD:4144120

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 9

mRNA:increased expression:lung (human)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

treatment

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter

CTD
RGD

PMID:11394717 PMID:16324872 PMID:17266442 PMID:25216247 PMID:26368622 More...

RGD:4142851, RGD:4143258, RGD:2314537, RGD:4143417

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

twist family bHLH transcription factor 1

mRNA:increased expression:lung

RGD

NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653

G

von Willebrand factor

associated with Radiation Injuries;protein:increased expression:lung parenchyma

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

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

telomerase reverse transcriptase

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

OMIM
ClinVar
CTD

PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 More...

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

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

telomerase RNA component

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2

OMIM
CTD
ClinVar

PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More...

NCBI chr 2:112,815,654...112,816,041

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

eukaryotic translation elongation factor 1 alpha 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071

G

fibronectin type III domain containing 11

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617

G

glucocorticoid modulatory element binding protein 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788

G

helicase with zinc finger 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

G

pancreatic progenitor cell differentiation and proliferation factor

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036

G

protein tyrosine kinase 6

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664

G

regulator of telomere elongation helicase 1

CTD Direct Evidence: marker/mechanism
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

OMIM
CTD
ClinVar

PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 More...

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915

G

stathmin 3

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056

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

poly(A)-specific ribonuclease

ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, 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

OMIM
ClinVar
CTD

PMID:9736620 PMID:16199547 PMID:16281054 PMID:22834816 PMID:25741868 More...

NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560

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

zinc finger CCHC-type containing 8

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5

PMID:25741868 PMID:28492532 PMID:31488579

NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325

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

replication protein A1

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

PMID:25741868 PMID:34767620

NCBI chr10:60,148,869...60,199,970
Ensembl chr10:60,148,793...60,199,949

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

nuclear assembly factor 1 ribonucleoprotein

ClinVar Annotator: match by term: NAF1-related condition | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

PMID:25741868 PMID:27510903 PMID:28492532

NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293

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

protection of telomeres 1

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8

NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042

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 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9

NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942

pulmonary sarcoidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

severity

RGD

NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423

G

adenosine deaminase

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

brain-derived neurotrophic factor

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

complement C3

protein:altered expression:lung

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

C-C motif chemokine ligand 19

mRNA, protein:increased expression:lung

RGD

NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308

G

C-C motif chemokine ligand 5

mRNA:increased expression:lung:bronchoalveolar lavage cell (human)

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine receptor 5

disease_progression

protein:altered expression:lung, lymphocyte, macrophage (human)
DNA:polymorphisms:5' utr:multiple (human)

RGD

PMID:11790661 PMID:19679608

RGD:4892099, RGD:4892066

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

C-C motif chemokine receptor 7

mRNA:increased expression:lung

RGD

NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309

G

CF transmembrane conductance regulator

DNA:mutations:whole blood :

RGD

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

chitinase 3 like 1

protein:increased secretion:serum (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

C-reactive protein

severity

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

C-X-C motif chemokine ligand 10

protein:increased expression:respiratory system fluid/secretion

RGD

PMID:17550373 PMID:9834133

RGD:5135438, RGD:5135492

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 11

protein:increased expression:serum

RGD

NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271

G

C-X-C motif chemokine ligand 6

disease_progression

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093

G

C-X-C motif chemokine ligand 9

protein:increased expression:serum, respiratory system fluid/secretion

RGD

NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435

G

C-X-C motif chemokine receptor 3

protein:increased expression:respiratory system fluid/secretion, T cell

RGD

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

cytochrome b-245 alpha chain

no_association

DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)

RGD

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

defensin beta 1

protein:increased expression:serum

RGD

NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604

G

defensin beta 4

protein:increased expression:serum

RGD

NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665

G

defensin beta 5

protein:increased expression:serum

NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467

G

early growth response 1

protein:increased expression:lung (human)

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

heme oxygenase 1

protein:increased activity:sputum

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

interleukin 15

mRNA, protein:increased expression:lung

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

interleukin 18

protein:increased expression:serum
protein:increased expression:bronchoalveolar lavage fluid

RGD

PMID:11174201 PMID:16734560

RGD:4889863, RGD:4889823

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 18 receptor 1

severity

RGD

NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715

G

interleukin 1 receptor antagonist

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

lymphotoxin alpha

susceptibility

DNA:SNP:intron:

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

mucin 1, cell surface associated

protein:increased expression:serum

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

nerve growth factor

protein:increased expression:respiratory system fluid/secretion

RGD

PMID:16315781 PMID:21059230

RGD:4891110, RGD:5144061

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nucleotide-binding oligomerization domain containing 2

disease_progression

DNA:polymorphism:exon:2104C>T (human)

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 2

protein:increased expression:lung

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nuclear receptor subfamily 3, group C, member 1

protein:increased expression:lung

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

neurotrophin 3

disease_progression

protein:increased expression:respiratory system fluid/secretion

RGD

PMID:16315781 PMID:21059230

RGD:4891110, RGD:5144061

NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596

G

neurotrophic receptor tyrosine kinase 1

protein:increased expression: :

RGD

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

RT1 class II, locus Db1

severity
susceptibility

DNA:polymorphism:cds:DRB1*03 (human)
DNA:polymorphism:cds:DRB1*15 (human)

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

surfactant protein A1

protein:decreased expression:lung

RGD

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

transforming growth factor, beta 1

severity

DNA:polymorphisms: :-509C>T (human)

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

mRNA:decreased expression:alveolar macrophage

RGD

PMID:20813038 PMID:23668840

RGD:4145301, RGD:8553184

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

tenascin C

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624

G

tumor necrosis factor

DNA:polymorphism:promoter

RGD

PMID:20070603 PMID:15653992

RGD:4143236, RGD:4143466

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1B

protein:increased expression:serum (human)

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

vasoactive intestinal peptide

RGD

NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216

Pulmonary Surfactant Metabolism Dysfunction 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

RAB5B, member RAS oncogene family

ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder

PMID:25741868 PMID:35121658

NCBI chr 7:1,109,449...1,128,348
Ensembl chr 7:1,109,454...1,128,268

G

surfactant protein B

ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7491219 PMID:8163685 PMID:9506635 PMID:9682215 PMID:9973546 More...

NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436

G

surfactant protein C

ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

Pulmonary Surfactant Metabolism Dysfunction 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 1

ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776

G

surfactant protein C

ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:5942662 PMID:11207353 PMID:11893657 PMID:11991887 PMID:12538769 More...

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

G

usherin

ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2

PMID:10729113 PMID:10909849 PMID:19881469 PMID:20507924 PMID:24033266 More...

NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922

Pulmonary Surfactant Metabolism Dysfunction 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

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 chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

Pulmonary Surfactant Metabolism Dysfunction 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 2 receptor subunit beta

ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 More...

NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157

Radiation Pneumonitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate 5-lipoxygenase

RGD

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

ATM serine/threonine kinase

susceptibility

associated with lung cancer;DNA:SNPs:promoter:��111G>A,126713G>A (rs189037, s373759) (human)

RGD

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

complement C3

Protein: increased expression: plasma

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement component 4 binding protein, alpha

Protein: increased expression: plasma

RGD

NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205

G

Cbl proto-oncogene B

susceptibility

associated with lung non-small cell carcinoma; DNA:SNP,haplotype: :rs2305035(human)

RGD

NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839

G

C-C motif chemokine ligand 17

mRNA, protein:increased expression:lung, alveolar macrophage

RGD

NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819

G

C-C motif chemokine ligand 22

mRNA, protein:increased expression:lung, alveolar macrophage

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

interleukin 13

susceptibility

associated with carcinoma, non-small-cell lung; DNA:SNPs: :rs20541, rs180925 (human)

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 1 alpha

susceptibility

associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1800587,rs17561(human)

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

macrophage migration inhibitory factor

susceptibility

associated with carcinoma, non-small-cell lung; DNA:SNP: :rs755622(human)

RGD

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504

G

nitric oxide synthase 3

susceptibility

associated with carcinoma, non-small-cell lung;DNA:SNP:cds:c.894G>T rs1799983 (human)

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

surfactant protein D

susceptibility

RGD

NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927

G

transforming growth factor, beta 1

susceptibility

protein:increased expression:blood
DNA:SNP:exon:869T>C (rs1982073) (human)

RGD

PMID:19943923 PMID:19380441 PMID:18411002

RGD:4145121, RGD:4145136, RGD:4145278

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

susceptibility

associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

vitronectin

Protein: increased expression: plasma

RGD

NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810

Rajab Interstitial Lung Disease with Brain Calcifications

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phenylalanyl-tRNA synthetase subunit beta

ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications

PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More...

NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045

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

phenylalanyl-tRNA synthetase subunit beta

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 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045

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

phenylalanyl-tRNA synthetase subunit alpha

ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2

PMID:25741868 PMID:31355908

NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980

sick building syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

patatin-like phospholipase domain containing 6

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734

silicosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

arginase 1

mRNA:increased expression:lung (rat)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15292275 PMID:17365572

NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422

G

actin related protein 2/3 complex, subunit 2

mRNA:altered expression:lung (rat)

RGD

NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471

G

complement C3

DNA:polymorphism (human)

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

caveolin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 7

RGD

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

CD36 molecule

treatment

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

chitinase, acidic

mRNA:increased expression:lung (rat)

RGD

NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533

G

carboxypeptidase M

CTD Direct Evidence: marker/mechanism

NCBI chr 7:53,225,647...53,286,220
Ensembl chr 7:53,225,696...53,286,220

G

colony stimulating factor 2

protein:increased expression:serum:

RGD

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

cytotoxic T-lymphocyte-associated protein 4

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

early growth response 1

protein:increased expression:lung, epithelial cell, macrophage (rat)

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

elastin

protein:increased expression:lung connective tissue:

RGD

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

G

FTO, alpha-ketoglutarate dependent dioxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

heme oxygenase 1

protein:increased expression:serum, lung

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

heterogeneous nuclear ribonucleoprotein A3

protein:increased expression:lung

RGD

NCBI chr 3:60,578,574...60,588,755
Ensembl chr 3:60,578,673...60,588,306

G

intraflagellar transport 88

protein:decreased expression:lung

RGD

NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147

G

interleukin 17A

mRNA, protein:increased expression:lung

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

susceptibility
treatment

DNA:SNP (human)

RGD

PMID:11264025 PMID:23842733

RGD:4142816, RGD:8551847

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2 receptor subunit alpha

RGD

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

kinesin family member 3a

protein:decreased expression:lung
protein:increased expression:respiratory system fluid/secretion:

RGD

PMID:32042332 PMID:32042332

RGD:155791682, RGD:155791682

NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191

G

macrophage receptor with collagenous structure

treatment

RGD

NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521

G

matrix metallopeptidase 13

mRNA:increased expression:lung, fibroblast

RGD

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15292275 PMID:15205031

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nucleophosmin 1

CTD Direct Evidence: therapeutic

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645

G

PDZ domain containing RING finger 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:123,816,961...123,965,491
Ensembl chr 7:123,816,961...123,965,491

G

protein kinase C, beta

protein:increased activation:alveolar macrophage

RGD

NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

RT1 class II, locus Bb

DNA:polymorphism: :HLA-DQB1*0402(human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

regulator of telomere elongation helicase 1

mRNA:decreased expression:lung (rat)

RGD

NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

G

telomerase reverse transcriptase

mRNA:increased expression:lung (rat)

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tumor necrosis factor

treatment

DNA:polymorphisms: :

RGD

PMID:11264025 PMID:25199287

RGD:4142816, RGD:10450591

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

Silicotuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

stimulator of interferon response cGAMP interactor 1

severity

RGD

NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335

Surfactant Dysfunction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Pulmonary Surfactant Metabolism Dysfunction, Recessive | ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction

PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More...

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

bone morphogenetic protein 1

ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction

PMID:24033266 PMID:28492532

NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776

G

surfactant protein B

ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction

PMID:7491219 PMID:9506635 PMID:9973546 PMID:10571948 PMID:10712351 More...

NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436

G

surfactant protein C

ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction

PMID:11893657 PMID:14735158 PMID:15039969 PMID:15293602 PMID:15516475 More...

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

Term paths to the root

Path 1
Term	Annotations
disease	21128
disease of anatomical entity	18211
musculoskeletal system disease	8272
connective tissue disease	5757
interstitial lung disease	503
Goodpasture syndrome +	57
INTERSTITIAL LUNG AND LIVER DISEASE	7
Interstitial Lung Disease 1	1
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	3
Pulmonary Surfactant Metabolism Dysfunction 3	1
Pulmonary Surfactant Metabolism Dysfunction 5	1
Radiation Pneumonitis	16
Rajab Interstitial Lung Disease with Brain Calcifications +	2
Surfactant Dysfunction	4
autoimmune interstitial lung, joint, and kidney disease	86
bronchiolitis obliterans +	37
desquamative interstitial pneumonia	1
extrinsic allergic alveolitis +	29
granulomatosis with polyangiitis +	11
idiopathic interstitial pneumonia +	81
pneumoconiosis +	95
pulmonary fibrosis +	258
pulmonary sarcoidosis +	42
rheumatoid arthritis interstitial lung disease	0
Path 2
Term	Annotations
disease	21128
disease of anatomical entity	18211
respiratory system disease	3609
lower respiratory tract disease	2296
lung disease	2259
interstitial lung disease	503
Goodpasture syndrome +	57
INTERSTITIAL LUNG AND LIVER DISEASE	7
Interstitial Lung Disease 1	1
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	3
Pulmonary Surfactant Metabolism Dysfunction 3	1
Pulmonary Surfactant Metabolism Dysfunction 5	1
Radiation Pneumonitis	16
Rajab Interstitial Lung Disease with Brain Calcifications +	2
Surfactant Dysfunction	4
autoimmune interstitial lung, joint, and kidney disease	86
bronchiolitis obliterans +	37
desquamative interstitial pneumonia	1
extrinsic allergic alveolitis +	29
granulomatosis with polyangiitis +	11
idiopathic interstitial pneumonia +	81
pneumoconiosis +	95
pulmonary fibrosis +	258
pulmonary sarcoidosis +	42
rheumatoid arthritis interstitial lung disease	0

paths to the root