RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: respiratory failure
Accession: DOID:11162
browse the term
Definition: Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)
Synonyms: exact_synonym: Depressions, Ventilatory; Respiratory Depression; Respiratory Insufficiency; Ventilatory Depression; acute and chronic respiratory failure; acute respiratory Failure; acute-on-chronic respiratory failure; chronic respiratory failure; respiratory insufficiency/failure
primary_id: MESH:D012131 ; RDO:0002123
xref: ICD10CM:J96.0 ; ICD9CM:518.81 ; NCI:C27043
For additional species annotation, visit the
Alliance of Genome Resources .
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32558485
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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Cacna1s
calcium voltage-gated channel subunit alpha1 S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19822448
NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
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Ecel1
endothelin converting enzyme-like 1
ISO
RGD
PMID:10400672
RGD:734911
NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
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Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
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Fst
follistatin
ISO
RGD
PMID:7885475
RGD:737711
NCBI chr 2:46,537,589...46,544,813
Ensembl chr 2:46,538,700...46,544,457
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Ift80
intraflagellar transport 80
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17468754
NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
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Igf1r
insulin-like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620343
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Il15
interleukin 15
ISO
associated with Influenza
RGD
PMID:20003352
RGD:4888530
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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Il18
interleukin 18
ISO
associated with pancreatitis; protein:increased expression:plasma
RGD
PMID:19357034
RGD:4889556
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Lztfl1
leucine zipper transcription factor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32558485
NCBI chr 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839
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Mapt
microtubule-associated protein tau
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14595660
NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
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Mbl2
mannose binding lectin 2
ISO
DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:18582923
RGD:4889496
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mecp2
methyl CpG binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19559301
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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Mgme1
mitochondrial genome maintenance exonuclease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313956
NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666
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Musk
muscle associated receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Respiratory insufficiency
ClinVar
PMID:25537362 PMID:25741868 PMID:30311386
NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27192616
NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
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Pdyn
prodynorphin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6662192
NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25331496
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Sftpb
surfactant protein B
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human) associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human)
RGD
PMID:1622844 , PMID:12639841 , PMID:12515908 , PMID:8163685
RGD:4143460 , RGD:4143410 , RGD:4143414 , RGD:1624152
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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Slc23a1
solute carrier family 23 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984597
NCBI chr18:28,413,910...28,428,133
Ensembl chr18:28,414,009...28,428,117
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Sod1
superoxide dismutase 1
ISO
ClinVar Annotator: match by term: Respiratory insufficiency
ClinVar
PMID:30311386
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Tbcd
tubulin folding cofactor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27666374
NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
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Trh
thyrotropin releasing hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1305443 PMID:1833029
NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
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Acaa2
acetyl-CoA acyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12204859 PMID:22009550 , PMID:15118671
RGD:1331525
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Ace2
angiotensin I converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22009550
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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Aco2
aconitase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
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Ager
advanced glycosylation end product-specific receptor
IEP
protein:increased expression:lung
RGD
PMID:16456142
RGD:1625343
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Akr1b1
aldo-keto reductase family 1 member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
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Alad
aminolevulinate dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
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Alb
albumin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12394941
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Ambp
alpha-1-microglobulin/bikunin precursor
ISO
RGD
PMID:15710155
RGD:6904148
NCBI chr 5:78,975,690...78,986,021
Ensembl chr 5:78,975,678...78,985,990
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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C3
complement C3
ISO
protein:increased activation:respiratory system fluid/secretion protein:increased expression:plasma
RGD
PMID:3826891 , PMID:2784515
RGD:5130153 , RGD:5129694
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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C3ar1
complement C3a receptor 1
treatment
IMP
RGD
PMID:16782534
RGD:2303017
NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
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C5
complement C5
ISO IDA
protein:increased activation:respiratory system fluid/secretion associated with Burns (epidermis) associated with Sepsis;protein:increased activation:plasma
RGD
PMID:3826891 , PMID:10486240 , PMID:3264125
RGD:5130153 , RGD:1600658 , RGD:5130150
NCBI chr 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
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C5ar1
complement C5a receptor 1
treatment
IMP
RGD
PMID:16782534
RGD:2303017
NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ces3a
carboxylesterase 3a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr19:37,070,705...37,079,411
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Chpt1
choline phosphotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16292752
NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
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Cxcl10
C-X-C motif chemokine ligand 10
IMP
RGD
PMID:9288136
RGD:2311389
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
RGD
PMID:8810593
RGD:4143190
NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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Cyb5a
cytochrome b5 type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
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Ebf1
EBF transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr10:23,654,849...24,051,627
Ensembl chr10:23,661,013...24,050,209
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Edn1
endothelin 1
treatment
IEP ISO IDA
protein:increased secretion:plasma (rat) CTD Direct Evidence: marker/mechanism protein:increased secretion:plasma (human)
CTD
PMID:16625121 , PMID:1618274 , PMID:16741035 , PMID:8256914
RGD:4145073 , RGD:8662284 , RGD:4145079
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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Egr1
early growth response 1
ISO
protein:increased expression:lung (mouse)
RGD
PMID:16713977
RGD:5131902
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
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Eif2ak1
eukaryotic translation initiation factor 2 alpha kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146
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F3
coagulation factor III, tissue factor
ISO
protein:increased expression:plasma
RGD
PMID:10528607
RGD:11340213
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
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Fgfr4
fibroblast growth factor receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
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G8
G8 gene
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
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Gabrb1
gamma-aminobutyric acid type A receptor subunit beta1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
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Gnrh1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875 Ensembl chr15:44,442,555...44,442,875
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Hmox1
heme oxygenase 1
susceptibility
ISO
DNA:polymorphism:promoter
RGD
PMID:19526221
RGD:4145346
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Hspa4
heat shock protein family A (Hsp70) member 4
IDA
RGD
PMID:12235111
RGD:5688755
NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
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Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19858233
RGD:4145485
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifrd1
interferon-related developmental regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 6:60,132,025...60,151,354
Ensembl chr 6:60,132,024...60,151,420
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Igfbp6
insulin-like growth factor binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
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Il10
interleukin 10
treatment
IEP
associated with Sepsis
RGD
PMID:22037734
RGD:11049486
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il15
interleukin 15
ISO
associated with Influenza;protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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Il1b
interleukin 1 beta
disease_progression
ISO
protein:increased expression:lung protein:increased expression:bronchioalveolar lavage fluid (human)
RGD
PMID:18065658 , PMID:8810593
RGD:4142869 , RGD:4143190
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1rn
interleukin 1 receptor antagonist
disease_progression
ISO IDA
RGD
PMID:8686976 , PMID:22810359 , PMID:8810593
RGD:4143191 , RGD:6909177 , RGD:4143190
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il9
interleukin 9
ISO
associated with Influenza;protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
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Lcn2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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Lct
lactase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr13:44,998,414...45,040,593
Ensembl chr13:44,998,414...45,040,593
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Lep
leptin
disease_progression
ISO
respiratory system fluid/secretion
RGD
PMID:21317313
RGD:5128773
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Lim2
lens intrinsic membrane protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249
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LOC299277
similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B
ISO
protein:increased expression:serum
RGD
PMID:2432615
RGD:5147458
NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
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Lta
lymphotoxin alpha
ISO
DNA:polymorhpism:blood:
RGD
PMID:16135717
RGD:4143247
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:missense mutation:exon:p.G54N (human)
RGD
PMID:17133182
RGD:4889476
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mdh1
malate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
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Mfn1
mitofusin 1
treatment
IEP
RGD
PMID:27830717
RGD:12910765
NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
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Mir126b
microRNA 126b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 3:4,042,488...4,042,560
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Mir127
microRNA 127
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 6:133,713,430...133,713,526
Ensembl chr 6:133,713,430...133,713,526
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Mir128-2
microRNA 128-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 8:120,378,945...120,379,028
Ensembl chr 8:120,378,945...120,379,028
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Mir135b
microRNA 135b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr13:48,976,986...48,977,082
Ensembl chr13:48,976,986...48,977,082
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Mir155
microRNA 155
ISO
associated with sepsis;miRNA:increased expression:lung
RGD
PMID:28125526
RGD:24922218
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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Mir18a
microRNA 18a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr15:100,180,015...100,180,110
Ensembl chr15:100,180,015...100,180,110
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr15:100,180,162...100,180,243
Ensembl chr15:100,180,162...100,180,243
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Mir210
microRNA 210
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 1:214,208,355...214,208,464
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Mir223
microRNA 223
ISO
RNA:increased expression:Bronchoalveolar lavage
RGD
PMID:28931657
RGD:21408568
NCBI chr X:65,367,812...65,367,921
Ensembl chr X:65,367,812...65,367,921
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Mir26a
microRNA 26a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
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Mir30a
microRNA 30a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
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Mir30b
microRNA 30b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:109,282,662...109,282,747
Ensembl chr 7:109,282,658...109,282,752
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Mir337
microRNA 337
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 6:133,705,920...133,706,016
Ensembl chr 6:133,705,920...133,706,016
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Mir344-1
microRNA 344-1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
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Mir346
microRNA 346
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr16:11,250,054...11,250,151
Ensembl chr16:11,250,054...11,250,151
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Mir349
microRNA 349
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:130,146,518...130,146,614
Ensembl chr 7:130,146,518...130,146,614
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Mir99a
microRNA 99a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
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Mirlet7b
microRNA let-7b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:126,590,627...126,590,711
Ensembl chr 7:126,590,627...126,590,711
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Mirlet7d
microRNA let-7d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr17:16,419,980...16,420,077
Ensembl chr17:16,419,980...16,420,077
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:lung
RGD
PMID:21211006
RGD:5129208
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Mt3
metallothionein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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Muc1
mucin 1, cell surface associated
ISO
associated with critical illness; protein:increased expression:plasma
RGD
PMID:16779848
RGD:5131171
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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Mylk
myosin light chain kinase
ISO
RGD
PMID:18766098
RGD:4891491
NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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Nppb
natriuretic peptide B
ISO
associated with Ventilator-Induced Lung Injury;protein:increased expression:serum:
RGD
PMID:23837838
RGD:7247620
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Parp1
poly (ADP-ribose) polymerase 1
ISO
RGD
PMID:19741160
RGD:5683903
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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Pdpn
podoplanin
IEP
RGD
PMID:11790662
RGD:2292244
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
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Pla2g2a
phospholipase A2 group IIA
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:22173044
RGD:6482717
NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
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Pla2g4a
phospholipase A2 group IVA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10881173
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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Plau
plasminogen activator, urokinase
ISO
RGD
PMID:17994220
RGD:4892109
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Prdx6
peroxiredoxin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
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Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
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Psma4
proteasome 20S subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 8:59,532,456...59,539,916
Ensembl chr 8:59,532,389...59,539,920
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:22363101
RGD:6483444
NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
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Ramp2
receptor activity modifying protein 2
IEP ISO
mRNA:decreased expression:lung CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658 , PMID:17068622
RGD:1642683
NCBI chr10:89,166,170...89,168,962
Ensembl chr10:89,166,890...89,168,965
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S100a4
S100 calcium-binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604
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S100a9
S100 calcium binding protein A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 2:190,097,436...190,100,209
Ensembl chr 2:190,097,554...190,100,276
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Septin5
septin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
IMP ISO
associated with pancreatitis protein:increased expression:serum
RGD
PMID:8574716 , PMID:2432615
RGD:5147448 , RGD:5147458
NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
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Serpinc1
serpin family C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8810955
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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Serpine1
serpin family E member 1
ISO
protein:increased expression:plasma associated with Pneumonia, aspiration; protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:17667242 , PMID:16284739
RGD:4144037 , RGD:4144039
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Serpinh1
serpin family H member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 1:164,301,010...164,308,306
Ensembl chr 1:164,301,010...164,308,317
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Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung protein:increased expression:serum
RGD
PMID:17662121 , PMID:10588595
RGD:4143379 , RGD:4143436
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sftpb
surfactant protein B
susceptibility
ISO
protein:increased expression:plasma protein:decreased expression:lung associated with Pneumonia;DNA:polymorphism: :1580C>T (human) associated with Lung Injury;DNA:polymorphism:intron (human)
RGD
PMID:9351625 , PMID:17662121 , PMID:15190959 , PMID:14718442
RGD:4143447 , RGD:4143379 , RGD:4143404 , RGD:4143408
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:17662121 , PMID:9720777
RGD:4143379 , RGD:4144159
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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Sftpd
surfactant protein D
ISO
protein:increased expression:serum
RGD
PMID:10588595
RGD:4143436
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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Slc25a11
solute carrier family 25 member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
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Sod2
superoxide dismutase 2
IEP ISO
mRNA:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658 , PMID:25070658
RGD:11035305
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Tbxa2r
thromboxane A2 receptor
treatment
IMP
RGD
PMID:1934328
RGD:11059533
NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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Thbd
thrombomodulin
IEP ISO
protein:decreased expression:lung CTD Direct Evidence: marker/mechanism
CTD
PMID:12707536 , PMID:12707536
RGD:1601651
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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Tlr3
toll-like receptor 3
ISO
RGD
PMID:18849495
RGD:5129134
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Tlr5
toll-like receptor 5
ISO
mRNA:decreased expression:lung (mouse)
RGD
PMID:12763043
RGD:5129557
NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
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Tlr9
toll-like receptor 9
ISO
RGD
PMID:17925007
RGD:5130709
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum associated lung injury; DNA:polymorphism:promoter:
RGD
PMID:21062445 , PMID:16135717
RGD:5128683 , RGD:4143247
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:lung (mouse) protein:increased expression:plasma (human)
RGD
PMID:21512145 , PMID:21070800 , PMID:21283009
RGD:5131206 , RGD:5131145 , RGD:5131096
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Tnfrsf1b
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:lung (mouse) human protein in rat model
RGD
PMID:21512145 , PMID:19916860 , PMID:11159038
RGD:5131206 , RGD:5131423 , RGD:5131147
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Tspan8
tetraspanin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:58,814,805...58,847,564
Ensembl chr 7:58,814,805...58,847,563
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Dnase1
deoxyribonuclease 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28780505
NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620
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Gstp1
glutathione S-transferase pi 1
severity
ISO
associated with Bronchial Hyperreactivity;DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:10919500
RGD:4142525
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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Il10
interleukin 10
susceptibility
ISO
DNA:SNPs (human)
RGD
PMID:17690329
RGD:4142510
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il9
interleukin 9
ISO
associated with Bronchitis, Chronic;mRNA:increased expression:respiratory system fluid/secretion, T cell
RGD
PMID:14605067
RGD:5128696
NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
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Mmp1
matrix metallopeptidase 1
ISO
associated with Asthma; DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:19191136
RGD:4890372
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25331496
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Ptgfr
prostaglandin F receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1219628
NCBI chr 2:257,005,813...257,039,036
Ensembl chr 2:257,005,829...257,038,105
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23727623 , PMID:23727623
RGD:11062088
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 ClinVar Annotator: match by OMIM:613819
OMIM ClinVar
PMID:18414213 PMID:21258341 PMID:22773737 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29068549
NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
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Wdr19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY ClinVar Annotator: match by OMIM:614376
OMIM ClinVar
PMID:19430947 PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:30266093 PMID:31837199 PMID:32165824
NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress DNA:missense mutation exon:p.L224R (c.671T>G) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human) ClinVar Annotator: match by OMIM:610978
OMIM ClinVar
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:18788921 PMID:19176457 PMID:19336474 PMID:24555207 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29538355 , PMID:26839702 , PMID:18788921 , PMID:23379327 , PMID:23911641
RGD:12914770 , RGD:11073166 , RGD:12914769 , RGD:12914768
NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:25741868 PMID:27738187
NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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Ascl1
achaete-scute family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar Annotator: match by OMIM:209880
OMIM ClinVar
PMID:14532329
NCBI chr 7:28,038,662...28,040,504
Ensembl chr 7:28,038,662...28,040,510
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Bdnf
brain-derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar
PMID:11840487 PMID:25741868 , PMID:11840487
RGD:734643
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Edn3
endothelin 3
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532
NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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Gdnf
glial cell derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Congenital Ondine curse CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8896568 PMID:8896569 PMID:9215674 PMID:9497256 PMID:11565554 PMID:11823451 PMID:12640453 PMID:19184120 PMID:22729463 PMID:24033266
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar
PMID:14532329
NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
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Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation DNA:duplication: :c.691_698dup (human) DNA:repeats CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 PMID:15024693 PMID:15121777 PMID:15334515 PMID:15338462 PMID:16763219 PMID:16830328 PMID:16888290 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:20208042 PMID:20301600 PMID:24033266 PMID:24728327 PMID:25326635 PMID:25741868 PMID:26063465 PMID:28492532 PMID:29098737 PMID:29531718 PMID:29543228 PMID:30672101 , PMID:24799442 , PMID:19201717
RGD:11058834 , RGD:12910557
NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 PMID:8099202 PMID:8626834 PMID:8640806 PMID:8797874 PMID:8896569 PMID:9067749 PMID:9090527 PMID:9174404 PMID:9230192 PMID:9452077 PMID:9497256 PMID:9498388 PMID:9502784 PMID:9839497 PMID:9868860 PMID:9879991 PMID:10049754 PMID:10090908 PMID:10618407 PMID:10826520 PMID:10876191 PMID:10921886 PMID:11114642 PMID:11238493 PMID:11732489 PMID:12019403 PMID:12086152 PMID:12410354 PMID:12566528 PMID:12640453 PMID:14557476 PMID:14633923 PMID:15184865 PMID:15386323 PMID:15741265 PMID:15858153 PMID:16118333 PMID:16325365 PMID:16532227 PMID:16839264 PMID:16849421 PMID:17108762 PMID:17316110 PMID:17384210 PMID:17466010 PMID:17590169 PMID:17605401 PMID:17704047 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:19445625 PMID:19958926 PMID:20013610 PMID:20039896 PMID:20041006 PMID:20369307 PMID:20456320 PMID:20473317 PMID:20497437 PMID:20516206 PMID:20532249 PMID:20979234 PMID:21134561 PMID:21479187 PMID:21711375 PMID:21810974 PMID:21995290 PMID:22174939 PMID:22274720 PMID:22584709 PMID:22648184 PMID:22703879 PMID:22729463 PMID:22837065 PMID:23084198 PMID:23259706 PMID:23341727 PMID:23468374 PMID:24033266 PMID:24055113 PMID:24134185 PMID:24336963 PMID:24361808 PMID:24617864 PMID:24728327 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25637381 PMID:25741868 PMID:25759805 PMID:25810047 PMID:26034076 PMID:26071011 PMID:26559152 PMID:26580448 PMID:26845104 PMID:28492532 PMID:28946813 PMID:29625052
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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Tlx3
T-cell leukemia, homeobox 3
ISS
OMIM:209880
MouseDO
NCBI chr10:18,128,869...18,131,745
Ensembl chr10:18,129,408...18,131,562
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 ClinVar Annotator: match by OMIM:604320
ClinVar OMIM
PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15248100 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:21353777 PMID:21902652 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27450922 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28492532 PMID:28902413 PMID:29858556 PMID:30311386 PMID:30598237 PMID:32488064 , PMID:11528396
RGD:737748
NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Sftpa1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sftpc
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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Ccl5
C-C motif chemokine ligand 5
ISO
associated with Obesity; protein:increased secretion:serum (human)
RGD
PMID:19701463
RGD:4892041
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Dctn1
dynactin subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19136952
NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
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Lep
leptin
ISO
Obesity Hypoventilation Syndrome
RGD
PMID:16179823
RGD:5128870
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Phox2b
paired-like homeobox 2b
ISO
RGD
PMID:14566559 , PMID:12640453
RGD:1599147 , RGD:1599148
NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia ClinVar Annotator: match by OMIM:156550 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4014370 PMID:4214536 PMID:7849719 PMID:7874117 PMID:7981752 PMID:9066888 PMID:9468540 PMID:10406661 PMID:11297324 PMID:12995812 PMID:23188137 PMID:25741868 PMID:28492532
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29901129 PMID:30311386
NCBI chr 5:155,812,096...155,913,751
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Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
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Ttn
titin
ISO
ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT
ClinVar OMIM
PMID:1745277 PMID:10053013 PMID:10462489 PMID:11310621 PMID:11717165 PMID:12145747 PMID:12669942 PMID:15802564 PMID:16084088 PMID:17344846 PMID:17444505 PMID:18414213 PMID:18948003 PMID:19608031 PMID:20890277 PMID:21520333 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:22577215 PMID:22577218 PMID:22577220 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23478172 PMID:23486992 PMID:23514108 PMID:23518707 PMID:23606733 PMID:23620651 PMID:23675308 PMID:23757202 PMID:23852418 PMID:23861362 PMID:23975875 PMID:23995273 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24384345 PMID:24395473 PMID:24440382 PMID:24444549 PMID:24459294 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24575448 PMID:24578547 PMID:24636144 PMID:24892279 PMID:24980681 PMID:25016126 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25253871 PMID:25447171 PMID:25498755 PMID:25500009 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25889363 PMID:25979592 PMID:26269091 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26518445 PMID:26559152 PMID:26627873 PMID:26701604 PMID:26718681 PMID:26777568 PMID:27066507 PMID:27194543 PMID:27273923 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27788187 PMID:27854218 PMID:27854229 PMID:27868399 PMID:27930701 PMID:28045975 PMID:28166282 PMID:28256728 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28822653 PMID:28831623 PMID:28857138 PMID:29099038 PMID:29221435 PMID:29361395 PMID:29386531 PMID:29540445 PMID:29892087 PMID:29961767 PMID:29970176 PMID:30311386 PMID:30615648 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31127727 PMID:31795264 PMID:31983221
NCBI chr 3:63,565,160...63,837,815
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Myod1
myogenic differentiation 1
ISO
ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
OMIM ClinVar
PMID:25741868 PMID:26733463 PMID:30403323 PMID:31260566
NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
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Fxr1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES
ClinVar OMIM
PMID:30770808
NCBI chr 2:120,529,716...120,570,356
Ensembl chr 2:120,512,899...120,570,355
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Npy
neuropeptide Y
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9288221
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
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Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Epas1
endothelial PAS domain protein 1
ISS
OMIM:267450
MouseDO
NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
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Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Icam1
intercellular adhesion molecule 1
ISO IEP
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:20888423 , PMID:19837405
RGD:4145440 , RGD:4145493
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Mbl2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Megf10
multiple EGF-like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
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Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:267450
MouseDO
NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
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Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
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Sftpa1
surfactant protein A1
susceptibility
ISO IEP
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 , PMID:11504697
RGD:4143433 , RGD:4143428
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sftpb
surfactant protein B
susceptibility
ISO IEP
DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung
RGD
PMID:12490037 , PMID:7832777 , PMID:11063734 , PMID:11504697 , PMID:12424586 , PMID:18353230
RGD:4143416 , RGD:4143455 , RGD:4143433 , RGD:4143428 , RGD:4143418 , RGD:4143376
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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Sftpc
surfactant protein C
IEP ISO
mRNA, protein:decreased expression:lung protein:altered processing:amniotic fluid, lung
RGD
PMID:11504697 , PMID:7537464
RGD:4143428 , RGD:4144127
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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Sftpd
surfactant protein D
susceptibility
ISO IEP
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:17524024 , PMID:11504697
RGD:4143507 , RGD:4143428
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
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Vegfa
vascular endothelial growth factor A
ISS
OMIM:267450
MouseDO
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Skil
SKI-like proto-oncogene
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23590892
NCBI chr 2:115,862,932...115,891,304
Ensembl chr 2:115,866,701...115,891,097
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Smad7
SMAD family member 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23590892
NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:lung,serum:
RGD
PMID:24535699
RGD:11073678
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Dctn1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Perry syndrome ClinVar Annotator: match by OMIM:168605
ClinVar OMIM
PMID:15326253 PMID:17824900 PMID:18812314 PMID:19136952 PMID:19506225 PMID:20437543 PMID:22777741 PMID:23143281 PMID:24343258 PMID:24627108 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:28130640 PMID:28430856 PMID:28492532 PMID:29525180 , PMID:20702129 , PMID:19136952
RGD:5534575 , RGD:5535748
NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
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Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL
ClinVar OMIM
PMID:25741868 PMID:29053800 PMID:31727539
NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
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Ada
adenosine deaminase
IMP
associated with Acute Lung Injury
RGD
PMID:20228181
RGD:5128842
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25945502
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adora2a
adenosine A2a receptor
ISO
associated with Reperfusion Injury
RGD
PMID:19909990
RGD:4890361
NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
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Adrb2
adrenoceptor beta 2
IMP ISO
DNA:SNPs: :46A>G, 79C>G and 523C>A (human)
RGD
PMID:18987456 , PMID:20546540
RGD:5129128 , RGD:4144884
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Agt
angiotensinogen
ISO
DNA:polymorphism: :p.M235T (human)
RGD
PMID:21393362
RGD:5129160
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Alox5
arachidonate 5-lipoxygenase
IMP
RGD
PMID:8111595
RGD:4890432
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15612528
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl2
C-C motif chemokine ligand 2
IEP
associated with Shock, Septic;protein:increased expression:lung
RGD
PMID:18555988
RGD:2307014
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ghrh
growth hormone releasing hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22308467
NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
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Il13
interleukin 13
ISO
aosciated with Enterovirus Infections
RGD
PMID:15635619
RGD:4145737
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28600744
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il18
interleukin 18
ISO
RGD
PMID:19394645
RGD:4889555
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b
interleukin 1 beta
ISO
associated with Subarachnoid Hemorrhage;protein:increased expression:lung
RGD
PMID:19875734
RGD:4142817
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il33
interleukin 33
ISO
associated with Plasmodium falciparum malaria;protein:increased expression:lung
RGD
PMID:26437894
RGD:11342349
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Mif
macrophage migration inhibitory factor
ISO
associated with hemorrhage
RGD
PMID:17277045
RGD:4891015
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Nos2
nitric oxide synthase 2
IEP
protein:increased expression:alveolus protein:increased expression:lung
RGD
PMID:16256382 , PMID:14767587
RGD:4891463 , RGD:5132626
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
IEP ISO
protein:increased expression:lung CTD Direct Evidence: therapeutic
CTD
PMID:16844920 , PMID:14767587
RGD:5132626
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11818323
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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Sftpa1
surfactant protein A1
susceptibility
ISO
DNA:SNPs:cds:1101C>T, 3192T>C, 3234T>C (human)
RGD
PMID:16162765
RGD:4144872
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sgms1
sphingomyelin synthase 1
IDA IEP IMP
mRNA:increased expression:lung (rat)
RGD
PMID:12353928 , PMID:12353928 , PMID:12353928
RGD:1302423 , RGD:1302423 , RGD:1302423
NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
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Tacr1
tachykinin receptor 1
ISO
RGD
PMID:19633070
RGD:5147816
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11919079
NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
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Tlr4
toll-like receptor 4
ISO
associated with reperfusion injury
RGD
PMID:19376887
RGD:4144136
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tnf
tumor necrosis factor
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid CTD Direct Evidence: therapeutic
CTD
PMID:21188088 , PMID:9628235
RGD:4142833
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Vegfa
vascular endothelial growth factor A
IDA
RGD
PMID:16793871
RGD:1580547
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Dnm1l
dynamin 1-like
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
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Fis1
fission, mitochondrial 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25373139
NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
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Hmox1
heme oxygenase 1
IEP
protein:increased expression:lung
RGD
PMID:21296072
RGD:10755745
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Mfn2
mitofusin 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
IMP
compared to SS/JrHsdMcwi
RGD
PMID:30605394
RGD:38500203
NCBI chr10:99,330,894...99,391,551
Ensembl chr10:99,388,130...99,389,898
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Kcnj16em1Mcwi
potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
compared to SS/JrHsdMcwi
RGD
PMID:30605394
RGD:38500203
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Ghrh
growth hormone releasing hormone
IEP
mRNA, protein:decreased expression:hypothalamus (rat)
RGD
PMID:21406516
RGD:5687169
NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
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Ghrhr
growth hormone releasing hormone receptor
IEP
mRNA, protein:decreased expression:hypothalamus
RGD
PMID:21406516
RGD:5687169
NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16085
disease of anatomical entity
15340
respiratory system disease
2761
lung disease
1652
respiratory failure
189
Airway Obstruction +
11
Circumvallate Placenta Syndrome
0
Hypoventilation +
11
Infantile Apparent Life-Threatening Event
0
Laryngeal Granuloma
0
MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
1
MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES
1
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL
1
Positive-Pressure Respiration, Intrinsic
0
Respiratory Acidosis
0
Respiratory Paralysis
0
Respiratory Underresponsiveness to Hypoxia and Hypercapnia
3
Tauopathy and Respiratory Failure
0
Thompson Baraitser Syndrome
0
adult respiratory distress syndrome
107
asphyxiating thoracic dystrophy 4
1
asphyxiating thoracic dystrophy 5
1
hantavirus pulmonary syndrome
0
myofibrillar myopathy 9
1
neonatal respiratory failure
0
newborn respiratory distress syndrome +
23
pulmonary edema +
33
Path 2
disease
16085
disease of anatomical entity
15340
respiratory system disease
2761
lower respiratory tract disease
1693
lung disease
1652
respiratory failure
189
Airway Obstruction +
11
Circumvallate Placenta Syndrome
0
Hypoventilation +
11
Infantile Apparent Life-Threatening Event
0
Laryngeal Granuloma
0
MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
1
MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES
1
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL
1
Positive-Pressure Respiration, Intrinsic
0
Respiratory Acidosis
0
Respiratory Paralysis
0
Respiratory Underresponsiveness to Hypoxia and Hypercapnia
3
Tauopathy and Respiratory Failure
0
Thompson Baraitser Syndrome
0
adult respiratory distress syndrome
107
asphyxiating thoracic dystrophy 4
1
asphyxiating thoracic dystrophy 5
1
hantavirus pulmonary syndrome
0
myofibrillar myopathy 9
1
neonatal respiratory failure
0
newborn respiratory distress syndrome +
23
pulmonary edema +
33