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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
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Accession:DOID:11162 term browser browse the term
Definition:A lung disease characterized by inadequate gas exchange by the respiratory system. (DO)
Synonyms:exact_synonym: Depressions, Ventilatory;   Respiratory Depression;   Respiratory Insufficiency;   Ventilatory Depression;   acute and chronic respiratory failure;   acute-on-chronic respiratory failure;   respiratory insufficiency/failure
 narrow_synonym: PROGRESSIVE PULMONARY FAILURE;   acute respiratory failure;   chronic respiratory failure
 primary_id: MESH:D012131
 xref: EFO:0009686;   EFO:0009842;   ICD10CM:J96.0;   ICD9CM:518.81;   NCI:C27043
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
respiratory failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency ClinVar 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
JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19822448 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO RGD PMID:10400672 RGD:734911 NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
G Fst follistatin ISO RGD PMID:7885475 RGD:737711 NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il15 interleukin 15 ISO associated with Influenza RGD PMID:20003352 RGD:4888530 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Il18 interleukin 18 ISO associated with pancreatitis; protein:increased expression:plasma RGD PMID:19357034 RGD:4889556 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Respiratory failure ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Respiratory failure ClinVar PMID:25741868 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:14595660 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:mutations:5' utr, exon:multiple (human) RGD PMID:18582923 RGD:4889496 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Respiratory insufficiency ClinVar PMID:25537362 PMID:25741868 PMID:28492532 PMID:31974414 NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
JBrowse link
G Nup188 nucleoporin 188 ISO DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) RGD PMID:32275884 RGD:243048418 NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: therapeutic CTD PMID:6662192 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Respiratory insufficiency ClinVar PMID:25741868 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G 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 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984597 NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Respiratory failure ClinVar 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
JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Respiratory failure ClinVar PMID:25741868 PMID:34077761 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:1305443 PMID:1833029 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Progressive pulmonary failure ClinVar PMID:11863428 PMID:36214313 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
JBrowse link
adult respiratory distress syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12204859 PMID:22009550 PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009550 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Aco2 aconitase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP protein:increased expression:lung RGD PMID:16456142 RGD:1625343 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12394941 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ambp alpha-1-microglobulin/bikunin precursor ISO RGD PMID:15710155 RGD:6904148 NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G 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 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C3ar1 complement C3a receptor 1 treatment IMP RGD PMID:16782534 RGD:2303017 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G 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 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G C5ar1 complement C5a receptor 1 treatment IMP RGD PMID:16782534 RGD:2303017 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ces3a carboxylesterase 3a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr19:32,992,386...33,000,562 JBrowse link
G Chpt1 choline phosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292752 NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP RGD PMID:9288136 RGD:2311389 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO RGD PMID:8810593 RGD:4143190 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Cyb5a cytochrome b5 type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535
JBrowse link
G Ebf1 EBF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665
JBrowse link
G Edn1 endothelin 1 treatment IEP
ISO
IDA
protein:increased secretion:plasma (rat)
CTD Direct Evidence: marker/mechanism
protein:increased secretion:plasma (human)
CTD
RGD
PMID:16625121 PMID:1618274 PMID:16741035 PMID:8256914 RGD:4145073, RGD:8662284, RGD:4145079 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (mouse) RGD PMID:16713977 RGD:5131902 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:10528607 RGD:11340213 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
JBrowse link
G G8 G8 gene EXP CTD Direct Evidence: marker/mechanism CTD PMID:25070658
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr14:36,068,725...36,548,946
Ensembl chr14:36,080,393...36,548,948
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Hmox1 heme oxygenase 1 susceptibility ISO DNA:polymorphism:promoter RGD PMID:19526221 RGD:4145346 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IDA RGD PMID:12235111 RGD:5688755 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased secretion:plasma (human) RGD PMID:19858233 RGD:4145485 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 6:57,269,395...57,317,833
Ensembl chr 6:57,269,384...57,288,990
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
JBrowse link
G Il10 interleukin 10 treatment IEP associated with Sepsis RGD PMID:22037734 RGD:11049486 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il15 interleukin 15 ISO associated with Influenza;protein:increased expression:serum RGD PMID:21062445 RGD:5128683 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G 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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist disease_progression ISO
IDA
RGD PMID:8686976 PMID:22810359 PMID:8810593 RGD:4143191, RGD:6909177, RGD:4143190 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il9 interleukin 9 ISO associated with Influenza;protein:increased expression:serum RGD PMID:21062445 RGD:5128683 NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lct lactase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
JBrowse link
G Lep leptin disease_progression ISO respiratory system fluid/secretion RGD PMID:21317313 RGD:5128773 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lim2 lens intrinsic membrane protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorhpism:blood: RGD PMID:16135717 RGD:4143247 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:missense mutation:exon:p.G54N (human) RGD PMID:17133182 RGD:4889476 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mdh1 malate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
JBrowse link
G Mfn1 mitofusin 1 treatment IEP RGD PMID:27830717 RGD:12910765 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mir126a microRNA 126a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
JBrowse link
G Mir128-2 microRNA 128-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 8:112,085,467...112,085,550
Ensembl chr 8:112,085,467...112,085,550
JBrowse link
G Mir135b microRNA 135b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr13:43,638,857...43,638,953
Ensembl chr13:43,638,857...43,638,953
JBrowse link
G Mir155 microRNA 155 ISO associated with sepsis;miRNA:increased expression:lung RGD PMID:28125526 RGD:24922218 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir18a microRNA 18a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr15:92,180,765...92,180,860
Ensembl chr15:92,180,765...92,180,860
JBrowse link
G Mir19a microRNA 19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
JBrowse link
G Mir210 microRNA 210 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:Bronchoalveolar lavage RGD PMID:28931657 RGD:21408568 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mir26a microRNA 26a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mir30b microRNA 30b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
JBrowse link
G Mir344-1 microRNA 344-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:115,306,861...115,306,958 JBrowse link
G Mir346 microRNA 346 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr16:10,218,118...10,218,215
Ensembl chr16:10,218,118...10,218,215
JBrowse link
G Mir349 microRNA 349 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:120,243,311...120,243,407
Ensembl chr 7:120,243,311...120,243,407
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
JBrowse link
G Mirlet7b microRNA let-7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270
JBrowse link
G Mirlet7d microRNA let-7d ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:lung RGD PMID:21211006 RGD:5129208 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mt3 metallothionein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Muc1 mucin 1, cell surface associated ISO associated with critical illness; protein:increased expression:plasma RGD PMID:16779848 RGD:5131171 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Mylk myosin light chain kinase ISO DNA:missense mutations, silent mutation:CDS:p.H21P, p.P147S, p.T335T (human) RGD PMID:18828194 RGD:4891491 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Nppb natriuretic peptide B ISO associated with Ventilator-Induced Lung Injury;protein:increased expression:serum: RGD PMID:23837838 RGD:7247620 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:19741160 RGD:5683903 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pdpn podoplanin IEP RGD PMID:11790662 RGD:2292244 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:22173044 RGD:6482717 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Pla2g4a phospholipase A2 group 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:10881173 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:17994220 RGD:4892109 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Ppbp pro-platelet basic protein ISO protein:increased expression:plasma, respiratory system fluid/secretion : RGD PMID:8498526 RGD:401794588 NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
JBrowse link
G Prdx6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:22363101 RGD:6483444 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP
ISO
mRNA:decreased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25070658 PMID:17068622 RGD:1642683 NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO associated with avian influenza;mRNA, protein:increased expression, increased phosphorylation:lung (human) RGD PMID:31080811 RGD:127229928 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
JBrowse link
G Septin5 septin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
JBrowse link
G 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 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8810955 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G 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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinh1 serpin family H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung
protein:increased expression:serum
RGD PMID:17662121 PMID:10588595 RGD:4143379, RGD:4143436 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G 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 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Sftpc surfactant protein C ISO protein:decreased expression:lung RGD PMID:17662121 PMID:9720777 RGD:4143379, RGD:4144159 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Sftpd surfactant protein D ISO protein:increased expression:serum RGD PMID:10588595 RGD:4143436 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410
JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO
mRNA:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25070658 PMID:25070658 RGD:11035305 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment IMP RGD PMID:1934328 RGD:11059533 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
JBrowse link
G Thbd thrombomodulin IEP
ISO
protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12707536 PMID:12707536 RGD:1601651 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tlr3 toll-like receptor 3 ISO RGD PMID:18849495 RGD:5129134 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:decreased expression:lung (mouse) RGD PMID:12763043 RGD:5129557 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
JBrowse link
G Tlr9 toll-like receptor 9 ISO RGD PMID:17925007 RGD:5130709 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G 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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G 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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G 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 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Tspan8 tetraspanin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:51,444,946...51,479,360
Ensembl chr 7:51,445,074...51,479,356
JBrowse link
Airway Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1 deoxyribonuclease 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28780505 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
JBrowse link
G 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 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNPs (human) RGD PMID:17690329 RGD:4142510 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il9 interleukin 9 ISO associated with Bronchitis, Chronic;mRNA:increased expression:respiratory system fluid/secretion, T cell RGD PMID:14605067 RGD:5128696 NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO associated with Asthma; DNA:insertion:promoter:g.-1607insG (human) RGD PMID:19191136 RGD:4890372 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Ptgfr prostaglandin F receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1219628 NCBI chr 2:240,731,185...240,766,674
Ensembl chr 2:240,733,375...240,765,650
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:23727623 PMID:23727623 RGD:11062088 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
autosomal recessive distal hereditary motor neuronopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO
ISS
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM:604320
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... RGD:737748 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd4 abhydrolase domain containing 4, N-acyl phospholipase B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966
JBrowse link
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
G Arf6 ADP-ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114
JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
JBrowse link
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Brms1l BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:73,266,673...73,300,630
Ensembl chr 6:73,266,691...73,300,631
JBrowse link
G C15h14orf119 similar to human chromosome 14 open reading frame 119 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
JBrowse link
G C15h14orf93 similar to human chromosome 14 open reading frame 93 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
JBrowse link
G C6h14orf28 similar to human chromosome 14 open reading frame 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612
JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
JBrowse link
G Cideb cell death-inducing DFFA-like effector b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
JBrowse link
G Clec14a C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612
JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
JBrowse link
G Ctsg cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,677,286...27,697,120
Ensembl chr15:27,677,268...27,697,347
JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
JBrowse link
G Dhrs2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
JBrowse link
G Dhrs4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
JBrowse link
G Eapp E2F-associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734
JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025
JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
JBrowse link
G Fbxo33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669
JBrowse link
G Fitm1 fat storage-inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
JBrowse link
G Foxa1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,527,849...82,530,641 JBrowse link
G G2e3 G2/M-phase specific E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924
JBrowse link
G Gemin2 gem (nuclear organelle) associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153
JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
JBrowse link
G Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
JBrowse link
G Gzmf granzyme F ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
JBrowse link
G Haus4 HAUS augmin-like complex, subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
JBrowse link
G Hectd1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,181,429...69,268,045
Ensembl chr 6:69,181,436...69,268,053
JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G Insm2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,973,861...72,976,453 JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424
JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187
JBrowse link
G Klhl28 kelch-like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
JBrowse link
G LOC103693823 epididymal secretory protein E3-beta-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623
JBrowse link
G Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,263,199...29,265,716 JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316
JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374
JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126
JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905
JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026
JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
G Mia2 MIA SH3 domain ER export factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211
JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,755,293...75,090,403
Ensembl chr 6:74,755,395...75,086,811
JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
JBrowse link
G Mis18bp1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841
JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | 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)
OMIM
CTD
ClinVar
RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977
JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
JBrowse link
G Nova1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:63,780,105...63,905,567
Ensembl chr 6:63,783,489...63,906,289
JBrowse link
G Npas3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
JBrowse link
G Or10g1b olfactory receptor family 10 subfamily G member 1B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188
JBrowse link
G Or10g3 olfactory receptor family 10 subfamily G member 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615
JBrowse link
G Or4e2 olfactory receptor family 4 subfamily E member 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297
JBrowse link
G Or5au1 olfactory receptor family 5 subfamily AU member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632
JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
JBrowse link
G Pnn pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889
JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
JBrowse link
G Ppp1r3e protein phosphatase 1, regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,084,736...28,085,655 JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G Rn7sl1 RNA component of signal recognition particle 7SL1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
JBrowse link
G Rnase1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624
JBrowse link
G Rnase13 ribonuclease A family member 13 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670
JBrowse link
G Rnase2 ribonuclease A family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479
JBrowse link
G Rnase3 ribonuclease A family member 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
JBrowse link
G Rnase6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328
JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
JBrowse link
G Rpl36al1 ribosomal protein L36A like 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,654,808...87,656,202
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr10:97,766,179...97,768,892
JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
JBrowse link
G Sall2 spalt-like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
JBrowse link
G Scfd1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
JBrowse link
G Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560
JBrowse link
G Sec23a Sec23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
JBrowse link
G Slc22a17 solute carrier family 22, member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
JBrowse link
G Slc39a2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850
JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
JBrowse link
G Snx6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911
JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
JBrowse link
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
G Sstr1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802
JBrowse link
G Strn3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102
JBrowse link
G Stxbp6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349
JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
JBrowse link
G Tppp2 tubulin polymerization-promoting protein family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
JBrowse link
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024
JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
JBrowse link
G Zfp219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
JBrowse link
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33217309 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
congenital central hypoventilation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar
RGD
PMID:11840487 PMID:25741868 PMID:28492532 PMID:11840487 RGD:734643 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome
CTD
ClinVar
PMID:8696331 PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
JBrowse link
G Phox2b paired-like homeobox 2b ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation
OMIM:209880
DNA:duplication: :c.691_698dup (human)
DNA:repeats
CTD
ClinVar
MouseDO
RGD
PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... RGD:11058834, RGD:12910557 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation
CTD
ClinVar
PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:17,789,706...17,792,207
Ensembl chr10:17,790,053...17,792,207
JBrowse link
Congenital Central Hypoventilation Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
JBrowse link
G Phox2b paired-like homeobox 2b susceptibility ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM
PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1h myosin IH ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM
ClinVar
PMID:25741868 PMID:28779001 NCBI chr12:42,248,942...42,300,103
Ensembl chr12:42,247,138...42,323,730
JBrowse link
Congenital Central Hypoventilation Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbx1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 OMIM
ClinVar
PMID:30487221 NCBI chr 1:244,083,873...244,085,690
Ensembl chr 1:244,083,873...244,085,690
JBrowse link
congenital myopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnc2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar
PMID:33755597 NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029
JBrowse link
congenital myopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
JBrowse link
congenital myopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 ISO ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure OMIM
ClinVar
PMID:36264506 PMID:36344539 NCBI chr 2:241,129,346...241,159,272
Ensembl chr 2:241,130,340...241,159,089
JBrowse link
congenital myopathy 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30770808 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
JBrowse link
developmental and epileptic encephalopathy 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar
PMID:25741868 PMID:30575854 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM
ClinVar
PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
Hyaline Membrane Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 ISO RGD PMID:8981909 RGD:4144850 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Respiratory distress associated with prematurity ClinVar PMID:24033266 PMID:25741868 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpc surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
Hypoventilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl5 C-C motif chemokine ligand 5 ISO associated with Obesity; protein:increased secretion:serum (human) RGD PMID:19701463 RGD:4892041 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Dctn1 dynactin subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136952 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Lep leptin ISO Obesity Hypoventilation Syndrome RGD PMID:16179823 RGD:5128870 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Phox2b paired-like homeobox 2b ISO RGD PMID:14566559 PMID:12640453 RGD:1599147, RGD:1599148 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oas1a 2'-5' oligoadenylate synthetase 1A ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar
PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517
JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
JBrowse link
G 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 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
JBrowse link
myofibrillar myopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy 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 Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy 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 Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
OMIM
ClinVar
CTD
PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
Nasal Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:9288221 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal OMIM
ClinVar
PMID:25741868 PMID:27640307 PMID:29053797 PMID:29053800 PMID:31727539 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med11 mediator complex subunit 11 ISO ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities OMIM
ClinVar
PMID:36001086 NCBI chr10:55,164,322...55,165,940
Ensembl chr10:55,164,326...55,166,533
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar
PMID:25741868 PMID:32004447 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
JBrowse link
newborn respiratory distress syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Cat catalase susceptibility ISO DNA:haplotype: : RGD PMID:22574884 RGD:8655661 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar 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
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISS OMIM:267450 MouseDO NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:17666888 PMID:25741868 PMID:30755392 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:increased expression:blood cells RGD PMID:18301921 RGD:4145353 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G 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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO RGD PMID:25879044 RGD:12910849 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Megf10 multiple EGF-like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:18097062 RGD:4891007 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:267450 MouseDO NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
JBrowse link
G Nprl2 NPR2-like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:16938805 RGD:4891932 NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
JBrowse link
G 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 chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G 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 More... RGD:4143416, RGD:4143455, RGD:4143433, RGD:4143428, RGD:4143418, RGD:4143376 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Sftpc surfactant protein C IEP
ISO
mRNA, protein:decreased expression:lung
ClinVar Annotator: match by term: Neonatal respiratory distress
protein:altered processing:amniotic fluid, lung
ClinVar
RGD
PMID:25741868 PMID:11504697 PMID:7537464 RGD:4143428, RGD:4144127 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G 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 chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22574884 RGD:8655661 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789933 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:267450 MouseDO NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Paraquat Lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn4 cellular communication network factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35387687 NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
JBrowse link
G Skil SKI-like proto-oncogene ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:lung,serum: RGD PMID:24535699 RGD:11073678 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
Perry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 More... RGD:5534575, RGD:5535748 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
pulmonary edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase IMP associated with Acute Lung Injury RGD PMID:20228181 RGD:5128842 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: therapeutic CTD PMID:25945502 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adora2a adenosine A2a receptor ISO associated with Reperfusion Injury RGD PMID:19909990 RGD:4890361 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G 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 chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Agt angiotensinogen ISO DNA:polymorphism: :p.M235T (human) RGD PMID:21393362 RGD:5129160 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:8111595 RGD:4890432 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15612528 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP associated with Shock, Septic;protein:increased expression:lung RGD PMID:18555988 RGD:2307014 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ghrh growth hormone releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:22308467 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
JBrowse link
G Il13 interleukin 13 ISO aosciated with Enterovirus Infections RGD PMID:15635619 RGD:4145737 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28600744 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:19394645 RGD:4889555 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO associated with Subarachnoid Hemorrhage;protein:increased expression:lung RGD PMID:19875734 RGD:4142817 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il33 interleukin 33 ISO associated with Plasmodium falciparum malaria;protein:increased expression:lung RGD PMID:26437894 RGD:11342349 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with hemorrhage RGD PMID:17277045 RGD:4891015 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33012731 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:alveolus
protein:increased expression:lung
RGD PMID:16256382 PMID:14767587 RGD:4891463, RGD:5132626 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
protein:increased expression:lung
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:16844920 PMID:14767587 RGD:5132626 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11818323 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO DNA:SNPs:cds:1101C>T, 3192T>C, 3234T>C (human) RGD PMID:16162765 RGD:4144872 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G 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 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603
JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:19633070 RGD:5147816 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:11919079 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with reperfusion injury RGD PMID:19376887 RGD:4144136 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Bronchoalveolar Lavage Fluid
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:21188088 PMID:34390737 PMID:9628235 RGD:4142833 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vegfa vascular endothelial growth factor A IDA RGD PMID:16793871 RGD:1580547 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Pulmonary Edema of Mountaineers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Mfn2 mitofusin 2 IEP mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
Respiratory Underresponsiveness to Hypoxia and Hypercapnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
JBrowse link
G 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
Upper Airway Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghrh growth hormone releasing hormone IEP mRNA, protein:decreased expression:hypothalamus (rat) RGD PMID:21406516 RGD:5687169 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
JBrowse link
G Ghrhr growth hormone releasing hormone receptor IEP mRNA, protein:decreased expression:hypothalamus RGD PMID:21406516 RGD:5687169 NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      respiratory system disease 3627
        Respiration Disorders 483
          respiratory failure 390
            Airway Obstruction + 11
            Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities 1
            Circumvallate Placenta Syndrome 0
            FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 1
            Hypoventilation + 13
            IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA 1
            Infantile Apparent Life-Threatening Event 0
            Laryngeal Granuloma 0
            NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 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 108
            asphyxiating thoracic dystrophy 4 1
            asphyxiating thoracic dystrophy 5 1
            congenital myopathy 17 1
            congenital myopathy 21 1
            congenital myopathy 9A 1
            hantavirus pulmonary syndrome 0
            myofibrillar myopathy 9 1
            neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1
            neonatal respiratory failure + 3
            newborn respiratory distress syndrome + 205
            pulmonary edema + 35
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      respiratory system disease 3627
        lower respiratory tract disease 2303
          lung disease 2265
            respiratory failure 390
              Airway Obstruction + 11
              Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities 1
              Circumvallate Placenta Syndrome 0
              FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES 1
              Hypoventilation + 13
              IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA 1
              Infantile Apparent Life-Threatening Event 0
              Laryngeal Granuloma 0
              NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 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 108
              asphyxiating thoracic dystrophy 4 1
              asphyxiating thoracic dystrophy 5 1
              congenital myopathy 17 1
              congenital myopathy 21 1
              congenital myopathy 9A 1
              hantavirus pulmonary syndrome 0
              myofibrillar myopathy 9 1
              neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1
              neonatal respiratory failure + 3
              newborn respiratory distress syndrome + 205
              pulmonary edema + 35
paths to the root